5-42808456-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42808456
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 42808456
    reference: chr 5
allele count: 1
allele frequency: 1.25741877074741e-5
allele num: 79528
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000427414
  ensembl transcript: ENST00000510965
  gene symbol: SEPP1
  hgvsc: ENST00000510965.1:c.-1A>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000506078
  gene symbol: SEPP1
  hgvsc: ENST00000506078.1:n.70A>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000512980
  gene symbol: SEPP1
  hgvsc: ENST00000512980.1:n.70A>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000420939
  ensembl transcript: ENST00000514985
  gene symbol: SEPP1
  hgvsc: ENST00000514985.1:c.-1A>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000510650
  gene symbol: SEPP1
  hgvsc: ENST00000510650.1:n.55-1246A>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000473340
  ensembl transcript: ENST00000507920
  gene symbol: SEPP1
  hgvsc: ENST00000507920.1:c.-1A>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000425915
  ensembl transcript: ENST00000506577
  gene symbol: SEPP1
  hgvsc: ENST00000506577.1:c.-1A>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000508937
  gene symbol: SEPP1
  hgvsc: ENST00000508937.1:n.70A>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000515626
  gene symbol: SEPP1
  hgvsc: ENST00000515626.1:n.70A>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000421626
  ensembl transcript: ENST00000514218
  gene symbol: SEPP1
  hgvsc: ENST00000514218.1:c.-1A>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000427671
  ensembl transcript: ENST00000511224
  gene symbol: SEPP1
  hgvsc: ENST00000511224.1:c.-1A>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000509276
  gene symbol: SEPP1
  hgvsc: ENST00000509276.1:n.13A>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000505309
  gene symbol: SEPP1
  hgvsc: ENST00000505309.1:n.52A>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000513303
  gene symbol: SEPP1
  hgvsc: ENST00000513303.1:n.71A>G
  variant of: http://identifiers.org/hgnc/10751
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13406
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2082
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5006
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9187
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14942
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13392
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: African
population: East Asian
reference allele: T
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

5-42808474-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42808474
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 42808474
    reference: chr 5
allele count: 1
allele frequency: 1.597852486258469e-5
allele num: 62584
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000427414
  ensembl transcript: ENST00000510965
  gene symbol: SEPP1
  hgvsc: ENST00000510965.1:c.-13-6T>C
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000473340
  ensembl transcript: ENST00000507920
  gene symbol: SEPP1
  hgvsc: ENST00000507920.1:c.-13-6T>C
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000505309
  gene symbol: SEPP1
  hgvsc: ENST00000505309.1:n.34T>C
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000513303
  gene symbol: SEPP1
  hgvsc: ENST00000513303.1:n.59-6T>C
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000515626
  gene symbol: SEPP1
  hgvsc: ENST00000515626.1:n.58-6T>C
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000506078
  gene symbol: SEPP1
  hgvsc: ENST00000506078.1:n.58-6T>C
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000508937
  gene symbol: SEPP1
  hgvsc: ENST00000508937.1:n.58-6T>C
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000427671
  ensembl transcript: ENST00000511224
  gene symbol: SEPP1
  hgvsc: ENST00000511224.1:c.-13-6T>C
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000420939
  ensembl transcript: ENST00000514985
  gene symbol: SEPP1
  hgvsc: ENST00000514985.1:c.-13-6T>C
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000512980
  gene symbol: SEPP1
  hgvsc: ENST00000512980.1:n.58-6T>C
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000425915
  ensembl transcript: ENST00000506577
  gene symbol: SEPP1
  hgvsc: ENST00000506577.1:c.-13-6T>C
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000510650
  gene symbol: SEPP1
  hgvsc: ENST00000510650.1:n.55-1264T>C
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000421626
  ensembl transcript: ENST00000514218
  gene symbol: SEPP1
  hgvsc: ENST00000514218.1:c.-13-6T>C
  variant of: http://identifiers.org/hgnc/10751
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19211
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4773
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2042
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8434
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19587
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.-13-6T>C
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

5-42808477-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42808477
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 42808477
    reference: chr 5
allele count: 1
allele frequency: 1.700680272108843e-5
allele num: 58800
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000510650
  gene symbol: SEPP1
  hgvsc: ENST00000510650.1:n.55-1267C>T
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000420939
  ensembl transcript: ENST00000514985
  gene symbol: SEPP1
  hgvsc: ENST00000514985.1:c.-13-9C>T
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000513303
  gene symbol: SEPP1
  hgvsc: ENST00000513303.1:n.59-9C>T
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000473340
  ensembl transcript: ENST00000507920
  gene symbol: SEPP1
  hgvsc: ENST00000507920.1:c.-13-9C>T
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000515626
  gene symbol: SEPP1
  hgvsc: ENST00000515626.1:n.58-9C>T
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000427671
  ensembl transcript: ENST00000511224
  gene symbol: SEPP1
  hgvsc: ENST00000511224.1:c.-13-9C>T
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000506078
  gene symbol: SEPP1
  hgvsc: ENST00000506078.1:n.58-9C>T
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000505309
  gene symbol: SEPP1
  hgvsc: ENST00000505309.1:n.31C>T
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000508937
  gene symbol: SEPP1
  hgvsc: ENST00000508937.1:n.58-9C>T
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000425915
  ensembl transcript: ENST00000506577
  gene symbol: SEPP1
  hgvsc: ENST00000506577.1:c.-13-9C>T
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000421626
  ensembl transcript: ENST00000514218
  gene symbol: SEPP1
  hgvsc: ENST00000514218.1:c.-13-9C>T
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000427414
  ensembl transcript: ENST00000510965
  gene symbol: SEPP1
  hgvsc: ENST00000510965.1:c.-13-9C>T
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000512980
  gene symbol: SEPP1
  hgvsc: ENST00000512980.1:n.58-9C>T
  variant of: http://identifiers.org/hgnc/10751
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2200
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3144
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19499
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20150
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9594
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/5-42808483-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42808483
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 42808483
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 54040
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000515626
  gene symbol: SEPP1
  hgvsc: ENST00000515626.1:n.58-15T>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000513303
  gene symbol: SEPP1
  hgvsc: ENST00000513303.1:n.59-15T>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000506078
  gene symbol: SEPP1
  hgvsc: ENST00000506078.1:n.58-15T>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000505309
  gene symbol: SEPP1
  hgvsc: ENST00000505309.1:n.25T>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000425915
  ensembl transcript: ENST00000506577
  gene symbol: SEPP1
  hgvsc: ENST00000506577.1:c.-13-15T>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000427671
  ensembl transcript: ENST00000511224
  gene symbol: SEPP1
  hgvsc: ENST00000511224.1:c.-13-15T>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000508937
  gene symbol: SEPP1
  hgvsc: ENST00000508937.1:n.58-15T>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000510650
  gene symbol: SEPP1
  hgvsc: ENST00000510650.1:n.55-1273T>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000427414
  ensembl transcript: ENST00000510965
  gene symbol: SEPP1
  hgvsc: ENST00000510965.1:c.-13-15T>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000512980
  gene symbol: SEPP1
  hgvsc: ENST00000512980.1:n.58-15T>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000420939
  ensembl transcript: ENST00000514985
  gene symbol: SEPP1
  hgvsc: ENST00000514985.1:c.-13-15T>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000421626
  ensembl transcript: ENST00000514218
  gene symbol: SEPP1
  hgvsc: ENST00000514218.1:c.-13-15T>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000473340
  ensembl transcript: ENST00000507920
  gene symbol: SEPP1
  hgvsc: ENST00000507920.1:c.-13-15T>G
  variant of: http://identifiers.org/hgnc/10751
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2336
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2089
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11255
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19791
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19945
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2411
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP

5-42808488-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42808488
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 42808488
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 46668
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000427671
  ensembl transcript: ENST00000511224
  gene symbol: SEPP1
  hgvsc: ENST00000511224.1:c.-13-20A>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000508937
  gene symbol: SEPP1
  hgvsc: ENST00000508937.1:n.58-20A>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000512980
  gene symbol: SEPP1
  hgvsc: ENST00000512980.1:n.58-20A>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000420939
  ensembl transcript: ENST00000514985
  gene symbol: SEPP1
  hgvsc: ENST00000514985.1:c.-13-20A>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000425915
  ensembl transcript: ENST00000506577
  gene symbol: SEPP1
  hgvsc: ENST00000506577.1:c.-13-20A>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000427414
  ensembl transcript: ENST00000510965
  gene symbol: SEPP1
  hgvsc: ENST00000510965.1:c.-13-20A>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000505309
  gene symbol: SEPP1
  hgvsc: ENST00000505309.1:n.20A>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000473340
  ensembl transcript: ENST00000507920
  gene symbol: SEPP1
  hgvsc: ENST00000507920.1:c.-13-20A>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000421626
  ensembl transcript: ENST00000514218
  gene symbol: SEPP1
  hgvsc: ENST00000514218.1:c.-13-20A>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000513303
  gene symbol: SEPP1
  hgvsc: ENST00000513303.1:n.59-20A>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000506078
  gene symbol: SEPP1
  hgvsc: ENST00000506078.1:n.58-20A>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000510650
  gene symbol: SEPP1
  hgvsc: ENST00000510650.1:n.55-1278A>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000515626
  gene symbol: SEPP1
  hgvsc: ENST00000515626.1:n.58-20A>G
  variant of: http://identifiers.org/hgnc/10751
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13965
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2154
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20111
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18324
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

5-42808494-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42808494
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 42808494
    reference: chr 5
allele count: 1
allele frequency: 2.45122070791254e-5
allele num: 40796
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000515626
  gene symbol: SEPP1
  hgvsc: ENST00000515626.1:n.58-26A>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000421626
  ensembl transcript: ENST00000514218
  gene symbol: SEPP1
  hgvsc: ENST00000514218.1:c.-13-26A>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000425915
  ensembl transcript: ENST00000506577
  gene symbol: SEPP1
  hgvsc: ENST00000506577.1:c.-13-26A>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000512980
  gene symbol: SEPP1
  hgvsc: ENST00000512980.1:n.58-26A>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000427671
  ensembl transcript: ENST00000511224
  gene symbol: SEPP1
  hgvsc: ENST00000511224.1:c.-13-26A>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000473340
  ensembl transcript: ENST00000507920
  gene symbol: SEPP1
  hgvsc: ENST00000507920.1:c.-13-26A>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000505309
  gene symbol: SEPP1
  hgvsc: ENST00000505309.1:n.14A>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000513303
  gene symbol: SEPP1
  hgvsc: ENST00000513303.1:n.59-26A>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000508937
  gene symbol: SEPP1
  hgvsc: ENST00000508937.1:n.58-26A>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000427414
  ensembl transcript: ENST00000510965
  gene symbol: SEPP1
  hgvsc: ENST00000510965.1:c.-13-26A>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000510650
  gene symbol: SEPP1
  hgvsc: ENST00000510650.1:n.55-1284A>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000506078
  gene symbol: SEPP1
  hgvsc: ENST00000506078.1:n.58-26A>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000420939
  ensembl transcript: ENST00000514985
  gene symbol: SEPP1
  hgvsc: ENST00000514985.1:c.-13-26A>G
  variant of: http://identifiers.org/hgnc/10751
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16329
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15725
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20879
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

5-42808500-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42808500
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 42808500
    reference: chr 5
allele count: 1
allele frequency: 2.646202699126753e-5
allele num: 37790
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000513303
  gene symbol: SEPP1
  hgvsc: ENST00000513303.1:n.59-32T>C
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000515626
  gene symbol: SEPP1
  hgvsc: ENST00000515626.1:n.58-32T>C
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000420939
  ensembl transcript: ENST00000514985
  gene symbol: SEPP1
  hgvsc: ENST00000514985.1:c.-13-32T>C
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000427414
  ensembl transcript: ENST00000510965
  gene symbol: SEPP1
  hgvsc: ENST00000510965.1:c.-13-32T>C
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000510650
  gene symbol: SEPP1
  hgvsc: ENST00000510650.1:n.55-1290T>C
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000512980
  gene symbol: SEPP1
  hgvsc: ENST00000512980.1:n.58-32T>C
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000421626
  ensembl transcript: ENST00000514218
  gene symbol: SEPP1
  hgvsc: ENST00000514218.1:c.-13-32T>C
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000505309
  gene symbol: SEPP1
  hgvsc: ENST00000505309.1:n.8T>C
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000425915
  ensembl transcript: ENST00000506577
  gene symbol: SEPP1
  hgvsc: ENST00000506577.1:c.-13-32T>C
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000473340
  ensembl transcript: ENST00000507920
  gene symbol: SEPP1
  hgvsc: ENST00000507920.1:c.-13-32T>C
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000508937
  gene symbol: SEPP1
  hgvsc: ENST00000508937.1:n.58-32T>C
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000506078
  gene symbol: SEPP1
  hgvsc: ENST00000506078.1:n.58-32T>C
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000427671
  ensembl transcript: ENST00000511224
  gene symbol: SEPP1
  hgvsc: ENST00000511224.1:c.-13-32T>C
  variant of: http://identifiers.org/hgnc/10751
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14842
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16777
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21539
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ

5-42808501-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42808501
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 42808501
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 36890
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000427414
  ensembl transcript: ENST00000510965
  gene symbol: SEPP1
  hgvsc: ENST00000510965.1:c.-13-33A>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000513303
  gene symbol: SEPP1
  hgvsc: ENST00000513303.1:n.59-33A>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000473340
  ensembl transcript: ENST00000507920
  gene symbol: SEPP1
  hgvsc: ENST00000507920.1:c.-13-33A>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000427671
  ensembl transcript: ENST00000511224
  gene symbol: SEPP1
  hgvsc: ENST00000511224.1:c.-13-33A>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000512980
  gene symbol: SEPP1
  hgvsc: ENST00000512980.1:n.58-33A>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000508937
  gene symbol: SEPP1
  hgvsc: ENST00000508937.1:n.58-33A>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000420939
  ensembl transcript: ENST00000514985
  gene symbol: SEPP1
  hgvsc: ENST00000514985.1:c.-13-33A>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000505309
  gene symbol: SEPP1
  hgvsc: ENST00000505309.1:n.7A>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000421626
  ensembl transcript: ENST00000514218
  gene symbol: SEPP1
  hgvsc: ENST00000514218.1:c.-13-33A>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000510650
  gene symbol: SEPP1
  hgvsc: ENST00000510650.1:n.55-1291A>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000425915
  ensembl transcript: ENST00000506577
  gene symbol: SEPP1
  hgvsc: ENST00000506577.1:c.-13-33A>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000515626
  gene symbol: SEPP1
  hgvsc: ENST00000515626.1:n.58-33A>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000506078
  gene symbol: SEPP1
  hgvsc: ENST00000506078.1:n.58-33A>G
  variant of: http://identifiers.org/hgnc/10751
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14483
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16977
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21692
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2065
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: East Asian
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/5-42808502-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42808502
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 42808502
    reference: chr 5
allele count: 1
allele frequency: 2.83077619883372e-5
allele num: 35326
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000427671
  ensembl transcript: ENST00000511224
  gene symbol: SEPP1
  hgvsc: ENST00000511224.1:c.-13-34T>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000505309
  gene symbol: SEPP1
  hgvsc: ENST00000505309.1:n.6T>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000473340
  ensembl transcript: ENST00000507920
  gene symbol: SEPP1
  hgvsc: ENST00000507920.1:c.-13-34T>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000427414
  ensembl transcript: ENST00000510965
  gene symbol: SEPP1
  hgvsc: ENST00000510965.1:c.-13-34T>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000513303
  gene symbol: SEPP1
  hgvsc: ENST00000513303.1:n.59-34T>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000506078
  gene symbol: SEPP1
  hgvsc: ENST00000506078.1:n.58-34T>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000510650
  gene symbol: SEPP1
  hgvsc: ENST00000510650.1:n.55-1292T>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000512980
  gene symbol: SEPP1
  hgvsc: ENST00000512980.1:n.58-34T>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000508937
  gene symbol: SEPP1
  hgvsc: ENST00000508937.1:n.58-34T>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000515626
  gene symbol: SEPP1
  hgvsc: ENST00000515626.1:n.58-34T>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000425915
  ensembl transcript: ENST00000506577
  gene symbol: SEPP1
  hgvsc: ENST00000506577.1:c.-13-34T>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000420939
  ensembl transcript: ENST00000514985
  gene symbol: SEPP1
  hgvsc: ENST00000514985.1:c.-13-34T>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000421626
  ensembl transcript: ENST00000514218
  gene symbol: SEPP1
  hgvsc: ENST00000514218.1:c.-13-34T>G
  variant of: http://identifiers.org/hgnc/10751
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13796
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22065
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17208
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum

5-42808516-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42808516
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 42808516
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 25450
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000421626
  ensembl transcript: ENST00000514218
  gene symbol: SEPP1
  hgvsc: ENST00000514218.1:c.-13-48A>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000427671
  ensembl transcript: ENST00000511224
  gene symbol: SEPP1
  hgvsc: ENST00000511224.1:c.-13-48A>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000515626
  gene symbol: SEPP1
  hgvsc: ENST00000515626.1:n.58-48A>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000427414
  ensembl transcript: ENST00000510965
  gene symbol: SEPP1
  hgvsc: ENST00000510965.1:c.-13-48A>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000513303
  gene symbol: SEPP1
  hgvsc: ENST00000513303.1:n.59-48A>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000512980
  gene symbol: SEPP1
  hgvsc: ENST00000512980.1:n.58-48A>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000425915
  ensembl transcript: ENST00000506577
  gene symbol: SEPP1
  hgvsc: ENST00000506577.1:c.-13-48A>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000506078
  gene symbol: SEPP1
  hgvsc: ENST00000506078.1:n.58-48A>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000510650
  gene symbol: SEPP1
  hgvsc: ENST00000510650.1:n.55-1306A>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000420939
  ensembl transcript: ENST00000514985
  gene symbol: SEPP1
  hgvsc: ENST00000514985.1:c.-13-48A>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000473340
  ensembl transcript: ENST00000507920
  gene symbol: SEPP1
  hgvsc: ENST00000507920.1:c.-13-48A>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000508937
  gene symbol: SEPP1
  hgvsc: ENST00000508937.1:n.58-48A>G
  variant of: http://identifiers.org/hgnc/10751
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 17467
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9625
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25524
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2224
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: African
population: European (Finnish)
reference allele: T
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

5-42810751-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42810751
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 42810751
    reference: chr 5
allele count: 1
allele frequency: 1.832172957127153e-4
allele num: 5458
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000425915
  ensembl transcript: ENST00000506577
  gene symbol: SEPP1
  hgvsc: ENST00000506577.1:c.-13-2283C>T
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000513303
  gene symbol: SEPP1
  hgvsc: ENST00000513303.1:n.58+1187C>T
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000510650
  gene symbol: SEPP1
  hgvsc: ENST00000510650.1:n.54+1187C>T
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000421626
  ensembl transcript: ENST00000514218
  gene symbol: SEPP1
  hgvsc: ENST00000514218.1:c.-13-2283C>T
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000473340
  ensembl transcript: ENST00000507920
  gene symbol: SEPP1
  hgvsc: ENST00000507920.1:c.-14+1187C>T
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000515626
  gene symbol: SEPP1
  hgvsc: ENST00000515626.1:n.57+1187C>T
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000420939
  ensembl transcript: ENST00000514985
  gene symbol: SEPP1
  hgvsc: ENST00000514985.1:c.-14+1187C>T
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000427414
  ensembl transcript: ENST00000510965
  gene symbol: SEPP1
  hgvsc: ENST00000510965.1:c.-14+42C>T
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000508937
  gene symbol: SEPP1
  hgvsc: ENST00000508937.1:n.57+1187C>T
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000512980
  gene symbol: SEPP1
  hgvsc: ENST00000512980.1:n.57+1187C>T
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000506078
  gene symbol: SEPP1
  hgvsc: ENST00000506078.1:n.57+1187C>T
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000427671
  ensembl transcript: ENST00000511224
  gene symbol: SEPP1
  hgvsc: ENST00000511224.1:c.-42-861C>T
  variant of: http://identifiers.org/hgnc/10751
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5490
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2510
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Other
population: Latino
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: BaseQRankSum

5-42810764-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42810764
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 42810764
    reference: chr 5
allele count: 1
allele frequency: 1.722949689869056e-4
allele num: 5804
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000512980
  gene symbol: SEPP1
  hgvsc: ENST00000512980.1:n.57+1174C>T
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000420939
  ensembl transcript: ENST00000514985
  gene symbol: SEPP1
  hgvsc: ENST00000514985.1:c.-14+1174C>T
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000473340
  ensembl transcript: ENST00000507920
  gene symbol: SEPP1
  hgvsc: ENST00000507920.1:c.-14+1174C>T
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000427671
  ensembl transcript: ENST00000511224
  gene symbol: SEPP1
  hgvsc: ENST00000511224.1:c.-42-874C>T
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000513303
  gene symbol: SEPP1
  hgvsc: ENST00000513303.1:n.58+1174C>T
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000510650
  gene symbol: SEPP1
  hgvsc: ENST00000510650.1:n.54+1174C>T
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000515626
  gene symbol: SEPP1
  hgvsc: ENST00000515626.1:n.57+1174C>T
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000425915
  ensembl transcript: ENST00000506577
  gene symbol: SEPP1
  hgvsc: ENST00000506577.1:c.-13-2296C>T
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000427414
  ensembl transcript: ENST00000510965
  gene symbol: SEPP1
  hgvsc: ENST00000510965.1:c.-14+29C>T
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000506078
  gene symbol: SEPP1
  hgvsc: ENST00000506078.1:n.57+1174C>T
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000508937
  gene symbol: SEPP1
  hgvsc: ENST00000508937.1:n.57+1174C>T
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000421626
  ensembl transcript: ENST00000514218
  gene symbol: SEPP1
  hgvsc: ENST00000514218.1:c.-13-2296C>T
  variant of: http://identifiers.org/hgnc/10751
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4956
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2963
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ

5-42810796-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42810796
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 42810796
    reference: chr 5
allele count: 1
allele frequency: 1.441753171856978e-4
allele num: 6936
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000515626
  gene symbol: SEPP1
  hgvsc: ENST00000515626.1:n.57+1142C>T
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000427414
  ensembl transcript: ENST00000510965
  gene symbol: SEPP1
  hgvsc: ENST00000510965.1:c.-17C>T
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000510650
  gene symbol: SEPP1
  hgvsc: ENST00000510650.1:n.54+1142C>T
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000427671
  ensembl transcript: ENST00000511224
  gene symbol: SEPP1
  hgvsc: ENST00000511224.1:c.-42-906C>T
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000421626
  ensembl transcript: ENST00000514218
  gene symbol: SEPP1
  hgvsc: ENST00000514218.1:c.-13-2328C>T
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000425915
  ensembl transcript: ENST00000506577
  gene symbol: SEPP1
  hgvsc: ENST00000506577.1:c.-13-2328C>T
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000513303
  gene symbol: SEPP1
  hgvsc: ENST00000513303.1:n.58+1142C>T
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000508937
  gene symbol: SEPP1
  hgvsc: ENST00000508937.1:n.57+1142C>T
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000512980
  gene symbol: SEPP1
  hgvsc: ENST00000512980.1:n.57+1142C>T
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000473340
  ensembl transcript: ENST00000507920
  gene symbol: SEPP1
  hgvsc: ENST00000507920.1:c.-14+1142C>T
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000506078
  gene symbol: SEPP1
  hgvsc: ENST00000506078.1:n.57+1142C>T
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000420939
  ensembl transcript: ENST00000514985
  gene symbol: SEPP1
  hgvsc: ENST00000514985.1:c.-14+1142C>T
  variant of: http://identifiers.org/hgnc/10751
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4416
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2971
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum

5-42810797-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42810797
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 42810797
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 7004
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000473340
  ensembl transcript: ENST00000507920
  gene symbol: SEPP1
  hgvsc: ENST00000507920.1:c.-14+1141A>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000425915
  ensembl transcript: ENST00000506577
  gene symbol: SEPP1
  hgvsc: ENST00000506577.1:c.-13-2329A>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000421626
  ensembl transcript: ENST00000514218
  gene symbol: SEPP1
  hgvsc: ENST00000514218.1:c.-13-2329A>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000427671
  ensembl transcript: ENST00000511224
  gene symbol: SEPP1
  hgvsc: ENST00000511224.1:c.-42-907A>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000510650
  gene symbol: SEPP1
  hgvsc: ENST00000510650.1:n.54+1141A>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000508937
  gene symbol: SEPP1
  hgvsc: ENST00000508937.1:n.57+1141A>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000515626
  gene symbol: SEPP1
  hgvsc: ENST00000515626.1:n.57+1141A>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000427414
  ensembl transcript: ENST00000510965
  gene symbol: SEPP1
  hgvsc: ENST00000510965.1:c.-18A>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000513303
  gene symbol: SEPP1
  hgvsc: ENST00000513303.1:n.58+1141A>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000506078
  gene symbol: SEPP1
  hgvsc: ENST00000506078.1:n.57+1141A>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000420939
  ensembl transcript: ENST00000514985
  gene symbol: SEPP1
  hgvsc: ENST00000514985.1:c.-14+1141A>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000512980
  gene symbol: SEPP1
  hgvsc: ENST00000512980.1:n.57+1141A>G
  variant of: http://identifiers.org/hgnc/10751
canonical: false
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2883
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4466
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

5-42810798-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42810798
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 42810798
    reference: chr 5
allele count: 1
allele frequency: 1.40686550365785e-4
allele num: 7108
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000515626
  gene symbol: SEPP1
  hgvsc: ENST00000515626.1:n.57+1140C>A
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000512980
  gene symbol: SEPP1
  hgvsc: ENST00000512980.1:n.57+1140C>A
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000427414
  ensembl transcript: ENST00000510965
  gene symbol: SEPP1
  hgvsc: ENST00000510965.1:c.-19C>A
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000425915
  ensembl transcript: ENST00000506577
  gene symbol: SEPP1
  hgvsc: ENST00000506577.1:c.-13-2330C>A
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000420939
  ensembl transcript: ENST00000514985
  gene symbol: SEPP1
  hgvsc: ENST00000514985.1:c.-14+1140C>A
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000510650
  gene symbol: SEPP1
  hgvsc: ENST00000510650.1:n.54+1140C>A
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000473340
  ensembl transcript: ENST00000507920
  gene symbol: SEPP1
  hgvsc: ENST00000507920.1:c.-14+1140C>A
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000421626
  ensembl transcript: ENST00000514218
  gene symbol: SEPP1
  hgvsc: ENST00000514218.1:c.-13-2330C>A
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000427671
  ensembl transcript: ENST00000511224
  gene symbol: SEPP1
  hgvsc: ENST00000511224.1:c.-42-908C>A
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000508937
  gene symbol: SEPP1
  hgvsc: ENST00000508937.1:n.57+1140C>A
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000513303
  gene symbol: SEPP1
  hgvsc: ENST00000513303.1:n.58+1140C>A
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000506078
  gene symbol: SEPP1
  hgvsc: ENST00000506078.1:n.57+1140C>A
  variant of: http://identifiers.org/hgnc/10751
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4503
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2839
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD

5-42810802-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42810802
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 42810802
    reference: chr 5
allele count: 2
allele frequency: 2.729257641921397e-4
allele num: 7328
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000421626
  ensembl transcript: ENST00000514218
  gene symbol: SEPP1
  hgvsc: ENST00000514218.1:c.-13-2334G>A
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000425915
  ensembl transcript: ENST00000506577
  gene symbol: SEPP1
  hgvsc: ENST00000506577.1:c.-13-2334G>A
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000427414
  ensembl transcript: ENST00000510965
  gene symbol: SEPP1
  hgvsc: ENST00000510965.1:c.-23G>A
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000473340
  ensembl transcript: ENST00000507920
  gene symbol: SEPP1
  hgvsc: ENST00000507920.1:c.-14+1136G>A
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000510650
  gene symbol: SEPP1
  hgvsc: ENST00000510650.1:n.54+1136G>A
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000427671
  ensembl transcript: ENST00000511224
  gene symbol: SEPP1
  hgvsc: ENST00000511224.1:c.-42-912G>A
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000512980
  gene symbol: SEPP1
  hgvsc: ENST00000512980.1:n.57+1136G>A
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000420939
  ensembl transcript: ENST00000514985
  gene symbol: SEPP1
  hgvsc: ENST00000514985.1:c.-14+1136G>A
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000508937
  gene symbol: SEPP1
  hgvsc: ENST00000508937.1:n.57+1136G>A
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000513303
  gene symbol: SEPP1
  hgvsc: ENST00000513303.1:n.58+1136G>A
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000515626
  gene symbol: SEPP1
  hgvsc: ENST00000515626.1:n.57+1136G>A
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000506078
  gene symbol: SEPP1
  hgvsc: ENST00000506078.1:n.57+1136G>A
  variant of: http://identifiers.org/hgnc/10751
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4643
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2618
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  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: Other
population: South Asian
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

5-42810803-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42810803
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 42810803
    reference: chr 5
allele count: 1
allele frequency: 1.352813852813853e-4
allele num: 7392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000427414
  ensembl transcript: ENST00000510965
  gene symbol: SEPP1
  hgvsc: ENST00000510965.1:c.-24C>T
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000515626
  gene symbol: SEPP1
  hgvsc: ENST00000515626.1:n.57+1135C>T
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000510650
  gene symbol: SEPP1
  hgvsc: ENST00000510650.1:n.54+1135C>T
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000508937
  gene symbol: SEPP1
  hgvsc: ENST00000508937.1:n.57+1135C>T
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000427671
  ensembl transcript: ENST00000511224
  gene symbol: SEPP1
  hgvsc: ENST00000511224.1:c.-42-913C>T
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000420939
  ensembl transcript: ENST00000514985
  gene symbol: SEPP1
  hgvsc: ENST00000514985.1:c.-14+1135C>T
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000473340
  ensembl transcript: ENST00000507920
  gene symbol: SEPP1
  hgvsc: ENST00000507920.1:c.-14+1135C>T
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000425915
  ensembl transcript: ENST00000506577
  gene symbol: SEPP1
  hgvsc: ENST00000506577.1:c.-13-2335C>T
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000512980
  gene symbol: SEPP1
  hgvsc: ENST00000512980.1:n.57+1135C>T
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000506078
  gene symbol: SEPP1
  hgvsc: ENST00000506078.1:n.57+1135C>T
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000513303
  gene symbol: SEPP1
  hgvsc: ENST00000513303.1:n.58+1135C>T
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000421626
  ensembl transcript: ENST00000514218
  gene symbol: SEPP1
  hgvsc: ENST00000514218.1:c.-13-2335C>T
  variant of: http://identifiers.org/hgnc/10751
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4691
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2507
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

5-42810851-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42810851
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 42810851
    reference: chr 5
allele count: 2
allele frequency: 2.007628990162618e-4
allele num: 9962
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000506078
  gene symbol: SEPP1
  hgvsc: ENST00000506078.1:n.57+1087G>A
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000512980
  gene symbol: SEPP1
  hgvsc: ENST00000512980.1:n.57+1087G>A
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000473340
  ensembl transcript: ENST00000507920
  gene symbol: SEPP1
  hgvsc: ENST00000507920.1:c.-14+1087G>A
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000515626
  gene symbol: SEPP1
  hgvsc: ENST00000515626.1:n.57+1087G>A
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000420939
  ensembl transcript: ENST00000514985
  gene symbol: SEPP1
  hgvsc: ENST00000514985.1:c.-14+1087G>A
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000513303
  gene symbol: SEPP1
  hgvsc: ENST00000513303.1:n.58+1087G>A
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000425915
  ensembl transcript: ENST00000506577
  gene symbol: SEPP1
  hgvsc: ENST00000506577.1:c.-13-2383G>A
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000427671
  ensembl transcript: ENST00000511224
  gene symbol: SEPP1
  hgvsc: ENST00000511224.1:c.-42-961G>A
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000510650
  gene symbol: SEPP1
  hgvsc: ENST00000510650.1:n.54+1087G>A
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000427414
  ensembl transcript: ENST00000510965
  gene symbol: SEPP1
  hgvsc: ENST00000510965.1:c.-72G>A
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000508937
  gene symbol: SEPP1
  hgvsc: ENST00000508937.1:n.57+1087G>A
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000421626
  ensembl transcript: ENST00000514218
  gene symbol: SEPP1
  hgvsc: ENST00000514218.1:c.-13-2383G>A
  variant of: http://identifiers.org/hgnc/10751
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1860
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4324
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2041
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum

5-42810871-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42810871
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 42810871
    reference: chr 5
allele count: 1
allele frequency: 9.891196834817012e-5
allele num: 10110
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000508937
  gene symbol: SEPP1
  hgvsc: ENST00000508937.1:n.57+1067A>C
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000427671
  ensembl transcript: ENST00000511224
  gene symbol: SEPP1
  hgvsc: ENST00000511224.1:c.-42-981A>C
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000513303
  gene symbol: SEPP1
  hgvsc: ENST00000513303.1:n.58+1067A>C
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000510650
  gene symbol: SEPP1
  hgvsc: ENST00000510650.1:n.54+1067A>C
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000425915
  ensembl transcript: ENST00000506577
  gene symbol: SEPP1
  hgvsc: ENST00000506577.1:c.-13-2403A>C
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000512980
  gene symbol: SEPP1
  hgvsc: ENST00000512980.1:n.57+1067A>C
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000506078
  gene symbol: SEPP1
  hgvsc: ENST00000506078.1:n.57+1067A>C
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000421626
  ensembl transcript: ENST00000514218
  gene symbol: SEPP1
  hgvsc: ENST00000514218.1:c.-13-2403A>C
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000420939
  ensembl transcript: ENST00000514985
  gene symbol: SEPP1
  hgvsc: ENST00000514985.1:c.-14+1067A>C
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000427414
  ensembl transcript: ENST00000510965
  gene symbol: SEPP1
  hgvsc: ENST00000510965.1:c.-92A>C
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000473340
  ensembl transcript: ENST00000507920
  gene symbol: SEPP1
  hgvsc: ENST00000507920.1:c.-14+1067A>C
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000515626
  gene symbol: SEPP1
  hgvsc: ENST00000515626.1:n.57+1067A>C
  variant of: http://identifiers.org/hgnc/10751
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3778
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1848
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2289
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: MQRankSum

5-42810873-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42810873
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 42810873
    reference: chr 5
allele count: 1
allele frequency: 1.003814495081309e-4
allele num: 9962
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000513303
  gene symbol: SEPP1
  hgvsc: ENST00000513303.1:n.58+1065C>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000515626
  gene symbol: SEPP1
  hgvsc: ENST00000515626.1:n.57+1065C>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000427671
  ensembl transcript: ENST00000511224
  gene symbol: SEPP1
  hgvsc: ENST00000511224.1:c.-42-983C>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000425915
  ensembl transcript: ENST00000506577
  gene symbol: SEPP1
  hgvsc: ENST00000506577.1:c.-13-2405C>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000427414
  ensembl transcript: ENST00000510965
  gene symbol: SEPP1
  hgvsc: ENST00000510965.1:c.-94C>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000512980
  gene symbol: SEPP1
  hgvsc: ENST00000512980.1:n.57+1065C>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000508937
  gene symbol: SEPP1
  hgvsc: ENST00000508937.1:n.57+1065C>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000473340
  ensembl transcript: ENST00000507920
  gene symbol: SEPP1
  hgvsc: ENST00000507920.1:c.-14+1065C>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000506078
  gene symbol: SEPP1
  hgvsc: ENST00000506078.1:n.57+1065C>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000510650
  gene symbol: SEPP1
  hgvsc: ENST00000510650.1:n.54+1065C>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000421626
  ensembl transcript: ENST00000514218
  gene symbol: SEPP1
  hgvsc: ENST00000514218.1:c.-13-2405C>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000420939
  ensembl transcript: ENST00000514985
  gene symbol: SEPP1
  hgvsc: ENST00000514985.1:c.-14+1065C>G
  variant of: http://identifiers.org/hgnc/10751
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2406
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3676
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1821
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

5-42810877-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42810877
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 42810877
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 9860
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000508937
  gene symbol: SEPP1
  hgvsc: ENST00000508937.1:n.57+1061C>T
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000510650
  gene symbol: SEPP1
  hgvsc: ENST00000510650.1:n.54+1061C>T
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000473340
  ensembl transcript: ENST00000507920
  gene symbol: SEPP1
  hgvsc: ENST00000507920.1:c.-14+1061C>T
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000506078
  gene symbol: SEPP1
  hgvsc: ENST00000506078.1:n.57+1061C>T
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000515626
  gene symbol: SEPP1
  hgvsc: ENST00000515626.1:n.57+1061C>T
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000427414
  ensembl transcript: ENST00000510965
  gene symbol: SEPP1
  hgvsc: ENST00000510965.1:c.-98C>T
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000512980
  gene symbol: SEPP1
  hgvsc: ENST00000512980.1:n.57+1061C>T
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000425915
  ensembl transcript: ENST00000506577
  gene symbol: SEPP1
  hgvsc: ENST00000506577.1:c.-13-2409C>T
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000421626
  ensembl transcript: ENST00000514218
  gene symbol: SEPP1
  hgvsc: ENST00000514218.1:c.-13-2409C>T
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000420939
  ensembl transcript: ENST00000514985
  gene symbol: SEPP1
  hgvsc: ENST00000514985.1:c.-14+1061C>T
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000513303
  gene symbol: SEPP1
  hgvsc: ENST00000513303.1:n.58+1061C>T
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000427671
  ensembl transcript: ENST00000511224
  gene symbol: SEPP1
  hgvsc: ENST00000511224.1:c.-42-987C>T
  variant of: http://identifiers.org/hgnc/10751
canonical: false
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 3507
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2616
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

5-42810880-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42810880
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 42810880
    reference: chr 5
allele count: 89
allele frequency: 9.124461759278245e-3
allele num: 9754
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000473340
  ensembl transcript: ENST00000507920
  gene symbol: SEPP1
  hgvsc: ENST00000507920.1:c.-14+1058C>T
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000427414
  ensembl transcript: ENST00000510965
  gene symbol: SEPP1
  hgvsc: ENST00000510965.1:c.-101C>T
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000506078
  gene symbol: SEPP1
  hgvsc: ENST00000506078.1:n.57+1058C>T
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000515626
  gene symbol: SEPP1
  hgvsc: ENST00000515626.1:n.57+1058C>T
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000420939
  ensembl transcript: ENST00000514985
  gene symbol: SEPP1
  hgvsc: ENST00000514985.1:c.-14+1058C>T
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000508937
  gene symbol: SEPP1
  hgvsc: ENST00000508937.1:n.57+1058C>T
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000425915
  ensembl transcript: ENST00000506577
  gene symbol: SEPP1
  hgvsc: ENST00000506577.1:c.-13-2412C>T
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000427671
  ensembl transcript: ENST00000511224
  gene symbol: SEPP1
  hgvsc: ENST00000511224.1:c.-42-990C>T
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000512980
  gene symbol: SEPP1
  hgvsc: ENST00000512980.1:n.57+1058C>T
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000421626
  ensembl transcript: ENST00000514218
  gene symbol: SEPP1
  hgvsc: ENST00000514218.1:c.-13-2412C>T
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000513303
  gene symbol: SEPP1
  hgvsc: ENST00000513303.1:n.58+1058C>T
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000510650
  gene symbol: SEPP1
  hgvsc: ENST00000510650.1:n.54+1058C>T
  variant of: http://identifiers.org/hgnc/10751
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3400
  bin: 7.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2752
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 1.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.-101C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

5-42810881-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42810881
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 42810881
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 9716
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000508937
  gene symbol: SEPP1
  hgvsc: ENST00000508937.1:n.57+1057G>A
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000512980
  gene symbol: SEPP1
  hgvsc: ENST00000512980.1:n.57+1057G>A
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000427414
  ensembl transcript: ENST00000510965
  gene symbol: SEPP1
  hgvsc: ENST00000510965.1:c.-101-1G>A
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000421626
  ensembl transcript: ENST00000514218
  gene symbol: SEPP1
  hgvsc: ENST00000514218.1:c.-13-2413G>A
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000513303
  gene symbol: SEPP1
  hgvsc: ENST00000513303.1:n.58+1057G>A
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000473340
  ensembl transcript: ENST00000507920
  gene symbol: SEPP1
  hgvsc: ENST00000507920.1:c.-14+1057G>A
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000425915
  ensembl transcript: ENST00000506577
  gene symbol: SEPP1
  hgvsc: ENST00000506577.1:c.-13-2413G>A
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000427671
  ensembl transcript: ENST00000511224
  gene symbol: SEPP1
  hgvsc: ENST00000511224.1:c.-42-991G>A
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000510650
  gene symbol: SEPP1
  hgvsc: ENST00000510650.1:n.54+1057G>A
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000506078
  gene symbol: SEPP1
  hgvsc: ENST00000506078.1:n.57+1057G>A
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000420939
  ensembl transcript: ENST00000514985
  gene symbol: SEPP1
  hgvsc: ENST00000514985.1:c.-14+1057G>A
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000515626
  gene symbol: SEPP1
  hgvsc: ENST00000515626.1:n.57+1057G>A
  variant of: http://identifiers.org/hgnc/10751
canonical: false
consequence: splice acceptor
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3390
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1754
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2791
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.-101-1G>A
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/5-42810894-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42810894
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 42810894
    reference: chr 5
allele count: 1
allele frequency: 1.095290251916758e-4
allele num: 9130
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000420939
  ensembl transcript: ENST00000514985
  gene symbol: SEPP1
  hgvsc: ENST00000514985.1:c.-14+1044T>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000427414
  ensembl transcript: ENST00000510965
  gene symbol: SEPP1
  hgvsc: ENST00000510965.1:c.-101-14T>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000508937
  gene symbol: SEPP1
  hgvsc: ENST00000508937.1:n.57+1044T>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000512980
  gene symbol: SEPP1
  hgvsc: ENST00000512980.1:n.57+1044T>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000506078
  gene symbol: SEPP1
  hgvsc: ENST00000506078.1:n.57+1044T>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000513303
  gene symbol: SEPP1
  hgvsc: ENST00000513303.1:n.58+1044T>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000425915
  ensembl transcript: ENST00000506577
  gene symbol: SEPP1
  hgvsc: ENST00000506577.1:c.-13-2426T>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000473340
  ensembl transcript: ENST00000507920
  gene symbol: SEPP1
  hgvsc: ENST00000507920.1:c.-14+1044T>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000515626
  gene symbol: SEPP1
  hgvsc: ENST00000515626.1:n.57+1044T>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000421626
  ensembl transcript: ENST00000514218
  gene symbol: SEPP1
  hgvsc: ENST00000514218.1:c.-13-2426T>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000427671
  ensembl transcript: ENST00000511224
  gene symbol: SEPP1
  hgvsc: ENST00000511224.1:c.-42-1004T>G
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000510650
  gene symbol: SEPP1
  hgvsc: ENST00000510650.1:n.54+1044T>G
  variant of: http://identifiers.org/hgnc/10751
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3530
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1703
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2998
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

5-42810907-CTG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42810907
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 42810905
    reference: chr 5
allele count: 8
allele frequency: 9.080590238365494e-4
allele num: 8810
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000473340
  ensembl transcript: ENST00000507920
  gene symbol: SEPP1
  hgvsc: ENST00000507920.1:c.-14+1029_-14+1030delCA
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000427414
  ensembl transcript: ENST00000510965
  gene symbol: SEPP1
  hgvsc: ENST00000510965.1:c.-101-29_-101-28delCA
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000515626
  gene symbol: SEPP1
  hgvsc: ENST00000515626.1:n.57+1029_57+1030delCA
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000508937
  gene symbol: SEPP1
  hgvsc: ENST00000508937.1:n.57+1029_57+1030delCA
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000506078
  gene symbol: SEPP1
  hgvsc: ENST00000506078.1:n.57+1029_57+1030delCA
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000425915
  ensembl transcript: ENST00000506577
  gene symbol: SEPP1
  hgvsc: ENST00000506577.1:c.-13-2441_-13-2440delCA
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000420939
  ensembl transcript: ENST00000514985
  gene symbol: SEPP1
  hgvsc: ENST00000514985.1:c.-14+1029_-14+1030delCA
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000512980
  gene symbol: SEPP1
  hgvsc: ENST00000512980.1:n.57+1029_57+1030delCA
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000513303
  gene symbol: SEPP1
  hgvsc: ENST00000513303.1:n.58+1029_58+1030delCA
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000427671
  ensembl transcript: ENST00000511224
  gene symbol: SEPP1
  hgvsc: ENST00000511224.1:c.-42-1019_-42-1018delCA
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl transcript: ENST00000510650
  gene symbol: SEPP1
  hgvsc: ENST00000510650.1:n.54+1029_54+1030delCA
  variant of: http://identifiers.org/hgnc/10751
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250722
  ensembl protein: ENSP00000421626
  ensembl transcript: ENST00000514218
  gene symbol: SEPP1
  hgvsc: ENST00000514218.1:c.-13-2441_-13-2440delCA
  variant of: http://identifiers.org/hgnc/10751
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3779
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2871
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: East Asian
reference allele: CTG
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff

5-43039519-CTG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43039519
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43039517
    reference: chr 5
allele count: 4
allele frequency: 3.633456870866943e-5
allele num: 110088
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000177721
  ensembl protein: ENSP00000315915
  ensembl transcript: ENST00000314890
  gene symbol: ANXA2R
  hgvsc: ENST00000314890.3:c.*46_*47delCA
  variant of: http://identifiers.org/hgnc/33463
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177738
  ensembl transcript: ENST00000503152
  gene symbol: CTD-2201E18.3
  hgvsc: ENST00000503152.1:n.194-24269_194-24268delCA
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3269
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2689
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4537
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12228
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2992
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5750
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4034
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9828
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1777
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2105
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3955
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2178
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2699
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21649
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 859
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2822
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1585
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14399
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2449
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5680
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3280
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9006
  num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
reference allele: CTG
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP

5-43039520-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43039520
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43039520
    reference: chr 5
allele count: 1
allele frequency: 9.083477155054955e-6
allele num: 110090
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000177721
  ensembl protein: ENSP00000315915
  ensembl transcript: ENST00000314890
  gene symbol: ANXA2R
  hgvsc: ENST00000314890.3:c.*47A>G
  variant of: http://identifiers.org/hgnc/33463
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177738
  ensembl transcript: ENST00000503152
  gene symbol: CTD-2201E18.3
  hgvsc: ENST00000503152.1:n.194-24268A>G
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5750
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1776
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4033
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3012
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9830
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3955
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2105
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2689
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4537
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12227
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3269
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2178
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2697
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2885
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21645
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 781
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3284
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5685
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2447
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1584
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14422
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8522
  num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: South Asian
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

5-43039523-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43039523
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43039523
    reference: chr 5
allele count: 164
allele frequency: 1.48950083557364e-3
allele num: 110104
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177738
  ensembl transcript: ENST00000503152
  gene symbol: CTD-2201E18.3
  hgvsc: ENST00000503152.1:n.194-24271C>T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000177721
  ensembl protein: ENSP00000315915
  ensembl transcript: ENST00000314890
  gene symbol: ANXA2R
  hgvsc: ENST00000314890.3:c.*44C>T
  variant of: http://identifiers.org/hgnc/33463
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12230
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4533
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 8.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2101
  bin: 6.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5749
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3269
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3951
  bin: 4.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 7.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 4027
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3091
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 7.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 9.75e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 9835
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 8.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 431
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  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1782
  bin: 6.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 2685
  bin: 5.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 1587
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2697
  bin: 8.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14545
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21669
  bin: 9.75e1
  variant carriers: 159
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2986
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genotype quality: GenotypeQuality
  all individuals: 95
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genotype quality: GenotypeQuality
  all individuals: 2175
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3278
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 5
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 1.110370863868532e-4
  allele num: 9006
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

5-43039532-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43039532
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43039532
    reference: chr 5
allele count: 1
allele frequency: 9.080342873746913e-6
allele num: 110128
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000177721
  ensembl protein: ENSP00000315915
  ensembl transcript: ENST00000314890
  gene symbol: ANXA2R
  hgvsc: ENST00000314890.3:c.*35G>A
  variant of: http://identifiers.org/hgnc/33463
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177738
  ensembl transcript: ENST00000503152
  gene symbol: CTD-2201E18.3
  hgvsc: ENST00000503152.1:n.194-24280G>A
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5755
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12298
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2095
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4007
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9876
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3269
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3271
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1772
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2682
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3950
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4539
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1591
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5701
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2177
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21556
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2451
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3263
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2701
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14794
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3288
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 786
  num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: C
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

5-43039533-AAGG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43039533
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43039530
    reference: chr 5
allele count: 2
allele frequency: 1.815837736739845e-5
allele num: 110142
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177738
  ensembl transcript: ENST00000503152
  gene symbol: CTD-2201E18.3
  hgvsc: ENST00000503152.1:n.194-24284_194-24282delCCT
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000177721
  ensembl protein: ENSP00000315915
  ensembl transcript: ENST00000314890
  gene symbol: ANXA2R
  hgvsc: ENST00000314890.3:c.*31_*33delCCT
  variant of: http://identifiers.org/hgnc/33463
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3329
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3270
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4003
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5756
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2683
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2095
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4539
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3950
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2451
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2701
  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 1591
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 3308
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 5714
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 235
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21558
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2178
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9962
  num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
reference allele: AAGG
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD

5-43039539-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43039539
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43039539
    reference: chr 5
allele count: 2
allele frequency: 1.81458563936925e-5
allele num: 110218
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000177721
  ensembl protein: ENSP00000315915
  ensembl transcript: ENST00000314890
  gene symbol: ANXA2R
  hgvsc: ENST00000314890.3:c.*28C>G
  variant of: http://identifiers.org/hgnc/33463
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177738
  ensembl transcript: ENST00000503152
  gene symbol: CTD-2201E18.3
  hgvsc: ENST00000503152.1:n.194-24287C>G
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1772
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3505
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3952
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4538
  bin: 4.25e1
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genotype depth: GenotypeDepth
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  bin: 2.5e0
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genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3401
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2704
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3294
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genotype quality: GenotypeQuality
  all individuals: 120
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genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 111
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 21558
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 422
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genotype quality: GenotypeQuality
  all individuals: 222
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 832
  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 142
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 2
  allele frequency: 3.134992789516584e-5
  allele num: 63796
  num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/5-43039545-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43039545
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43039545
    reference: chr 5
allele count: 1
allele frequency: 9.064046552943095e-6
allele num: 110326
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177738
  ensembl transcript: ENST00000503152
  gene symbol: CTD-2201E18.3
  hgvsc: ENST00000503152.1:n.194-24293G>T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000177721
  ensembl protein: ENSP00000315915
  ensembl transcript: ENST00000314890
  gene symbol: ANXA2R
  hgvsc: ENST00000314890.3:c.*22G>T
  variant of: http://identifiers.org/hgnc/33463
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3788
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3612
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 789
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genotype depth: GenotypeDepth
  all individuals: 812
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 364
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1772
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9895
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genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 541
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genotype quality: GenotypeQuality
  all individuals: 260
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 1593
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  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 786
  num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/5-43039546-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43039546
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43039547
    reference: chr 5
allele count: 1
allele frequency: 9.064210869801675e-6
allele num: 110324
alternate allele: CA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177738
  ensembl transcript: ENST00000503152
  gene symbol: CTD-2201E18.3
  hgvsc: ENST00000503152.1:n.194-24295dupT
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000177721
  ensembl protein: ENSP00000315915
  ensembl transcript: ENST00000314890
  gene symbol: ANXA2R
  hgvsc: ENST00000314890.3:c.*20dupT
  variant of: http://identifiers.org/hgnc/33463
canonical: true
consequence: 3' UTR
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 3740
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2096
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21556
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11476
  num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: African
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

5-43039553-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43039553
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43039553
    reference: chr 5
allele count: 1
allele frequency: 9.054854307394194e-6
allele num: 110438
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177738
  ensembl transcript: ENST00000503152
  gene symbol: CTD-2201E18.3
  hgvsc: ENST00000503152.1:n.194-24301G>A
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000177721
  ensembl protein: ENSP00000315915
  ensembl transcript: ENST00000314890
  gene symbol: ANXA2R
  hgvsc: ENST00000314890.3:c.*14G>A
  variant of: http://identifiers.org/hgnc/33463
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3430
  bin: 2.5e0
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genotype depth: GenotypeDepth
  all individuals: 2096
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 364
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4538
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 21556
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8524
  num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff

5-43039554-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43039554
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43039554
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 110498
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000177721
  ensembl protein: ENSP00000315915
  ensembl transcript: ENST00000314890
  gene symbol: ANXA2R
  hgvsc: ENST00000314890.3:c.*13G>A
  variant of: http://identifiers.org/hgnc/33463
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177738
  ensembl transcript: ENST00000503152
  gene symbol: CTD-2201E18.3
  hgvsc: ENST00000503152.1:n.194-24302G>A
canonical: true
consequence: 3' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2683
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11482
  num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

5-43039562-GCTAT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43039562
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43039558
    reference: chr 5
allele count: 1
allele frequency: 9.035872413481521e-6
allele num: 110670
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000177721
  ensembl protein: ENSP00000315915
  ensembl transcript: ENST00000314890
  gene symbol: ANXA2R
  hgvsc: ENST00000314890.3:c.*1_*4delATAG
  variant of: http://identifiers.org/hgnc/33463
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177738
  ensembl transcript: ENST00000503152
  gene symbol: CTD-2201E18.3
  hgvsc: ENST00000503152.1:n.194-24314_194-24311delATAG
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3815
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2718
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num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 1.091703056768559e-4
  allele num: 9160
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: East Asian
reference allele: GCTAT
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD

5-43039576-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43039576
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43039576
    reference: chr 5
allele count: 1
allele frequency: 9.001710324961744e-6
allele num: 111090
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177738
  ensembl transcript: ENST00000503152
  gene symbol: CTD-2201E18.3
  hgvsc: ENST00000503152.1:n.194-24324G>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177721
  ensembl protein: ENSP00000315915
  ensembl transcript: ENST00000314890
  gene symbol: ANXA2R
  hgvsc: ENST00000314890.3:c.573G>C
  hgvsp: ENSP00000315915.3:p.Lys191Asn
  variant of: http://identifiers.org/hgnc/33463
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2181
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  variant carriers: 0
hgvs: p.Lys191Asn
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9390
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

5-43039578-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43039578
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43039578
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 111210
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177721
  ensembl protein: ENSP00000315915
  ensembl transcript: ENST00000314890
  gene symbol: ANXA2R
  hgvsc: ENST00000314890.3:c.571A>G
  hgvsp: ENSP00000315915.3:p.Lys191Glu
  variant of: http://identifiers.org/hgnc/33463
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177738
  ensembl transcript: ENST00000503152
  gene symbol: CTD-2201E18.3
  hgvsc: ENST00000503152.1:n.194-24326A>G
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 4538
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3876
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3952
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3273
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12518
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5755
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3474
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2095
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2683
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9921
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1772
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1498
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2719
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15529
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21553
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1595
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3317
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2181
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3137
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2489
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5797
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Lys191Glu
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6612
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ

5-43039580-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43039580
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43039580
    reference: chr 5
allele count: 1
allele frequency: 8.986502273585076e-6
allele num: 111278
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177738
  ensembl transcript: ENST00000503152
  gene symbol: CTD-2201E18.3
  hgvsc: ENST00000503152.1:n.194-24328C>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177721
  ensembl protein: ENSP00000315915
  ensembl transcript: ENST00000314890
  gene symbol: ANXA2R
  hgvsc: ENST00000314890.3:c.569C>A
  hgvsp: ENSP00000315915.3:p.Ala190Asp
  variant of: http://identifiers.org/hgnc/33463
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9924
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1772
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
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genotype depth: GenotypeDepth
  all individuals: 3951
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
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genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
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genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.25e1
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genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2683
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala190Asp
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11488
  num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

5-43039593-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43039593
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43039593
    reference: chr 5
allele count: 204
allele frequency: 1.819738813958467e-3
allele num: 112104
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177721
  ensembl protein: ENSP00000315915
  ensembl transcript: ENST00000314890
  gene symbol: ANXA2R
  hgvsc: ENST00000314890.3:c.556C>T
  hgvsp: ENSP00000315915.3:p.Arg186Trp
  variant of: http://identifiers.org/hgnc/33463
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177738
  ensembl transcript: ENST00000503152
  gene symbol: CTD-2201E18.3
  hgvsc: ENST00000503152.1:n.194-24341C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 9.75e1
  variant carriers: 120
genotype depth: GenotypeDepth
  all individuals: 3915
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3788
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 4
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 8
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  variant carriers: 7
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 8.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 361
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  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 8.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2719
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg186Trp
num of homozygotes: 2
population: Latino
  type: Population
  allele count: 3
  allele frequency: 2.609149417289963e-4
  allele num: 11498
  num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ

5-43039601-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43039601
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43039601
    reference: chr 5
allele count: 1
allele frequency: 8.875319511502414e-6
allele num: 112672
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177721
  ensembl protein: ENSP00000315915
  ensembl transcript: ENST00000314890
  gene symbol: ANXA2R
  hgvsc: ENST00000314890.3:c.548G>C
  hgvsp: ENSP00000315915.3:p.Cys183Ser
  variant of: http://identifiers.org/hgnc/33463
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177738
  ensembl transcript: ENST00000503152
  gene symbol: CTD-2201E18.3
  hgvsc: ENST00000503152.1:n.194-24349G>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3944
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3261
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
  all individuals: 4546
  bin: 4.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 3690
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.75e1
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genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Cys183Ser
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11498
  num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

5-43039603-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43039603
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43039603
    reference: chr 5
allele count: 7
allele frequency: 6.199847660886046e-5
allele num: 112906
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177721
  ensembl protein: ENSP00000315915
  ensembl transcript: ENST00000314890
  gene symbol: ANXA2R
  hgvsc: ENST00000314890.3:c.546G>A
  hgvsp: ENST00000314890.3:c.546G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/33463
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177738
  ensembl transcript: ENST00000503152
  gene symbol: CTD-2201E18.3
  hgvsc: ENST00000503152.1:n.194-24351G>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4031
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9980
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3944
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3628
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3428
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2503
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15760
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21418
  bin: 9.75e1
  variant carriers: 6
hgvs: p.Ala182Ala
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 64444
  num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

5-43039607-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43039607
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43039607
    reference: chr 5
allele count: 1
allele frequency: 8.811504300014099e-6
allele num: 113488
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177721
  ensembl protein: ENSP00000315915
  ensembl transcript: ENST00000314890
  gene symbol: ANXA2R
  hgvsc: ENST00000314890.3:c.542G>C
  hgvsp: ENSP00000315915.3:p.Trp181Ser
  variant of: http://identifiers.org/hgnc/33463
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177738
  ensembl transcript: ENST00000503152
  gene symbol: CTD-2201E18.3
  hgvsc: ENST00000503152.1:n.194-24355G>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5776
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Trp181Ser
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 64602
  num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

5-43039611-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43039611
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43039611
    reference: chr 5
allele count: 1
allele frequency: 8.77808988764045e-6
allele num: 113920
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177738
  ensembl transcript: ENST00000503152
  gene symbol: CTD-2201E18.3
  hgvsc: ENST00000503152.1:n.194-24359C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177721
  ensembl protein: ENSP00000315915
  ensembl transcript: ENST00000314890
  gene symbol: ANXA2R
  hgvsc: ENST00000314890.3:c.538C>T
  hgvsp: ENSP00000315915.3:p.Leu180Phe
  variant of: http://identifiers.org/hgnc/33463
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4298
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5776
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.25e1
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genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9980
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 355
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
hgvs: p.Leu180Phe
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 812
  num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

5-43039612-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43039612
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43039612
    reference: chr 5
allele count: 1
allele frequency: 8.773469029654325e-6
allele num: 113980
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177738
  ensembl transcript: ENST00000503152
  gene symbol: CTD-2201E18.3
  hgvsc: ENST00000503152.1:n.194-24360A>T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177721
  ensembl protein: ENSP00000315915
  ensembl transcript: ENST00000314890
  gene symbol: ANXA2R
  hgvsc: ENST00000314890.3:c.537A>T
  hgvsp: ENST00000314890.3:c.537A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/33463
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4313
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9980
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 361
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Val179Val
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 64702
  num of homozygotes: 0
population: Other
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum

5-43039612-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43039612
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43039612
    reference: chr 5
allele count: 1
allele frequency: 8.773469029654325e-6
allele num: 113980
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177721
  ensembl protein: ENSP00000315915
  ensembl transcript: ENST00000314890
  gene symbol: ANXA2R
  hgvsc: ENST00000314890.3:c.537A>C
  hgvsp: ENST00000314890.3:c.537A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/33463
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177738
  ensembl transcript: ENST00000503152
  gene symbol: CTD-2201E18.3
  hgvsc: ENST00000503152.1:n.194-24360A>C
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4545
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9980
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.75e1
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  variant carriers: 0
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  variant carriers: 0
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  variant carriers: 0
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2191
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2729
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21415
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3330
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2502
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5862
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1597
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val179Val
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.545547278291243e-5
  allele num: 64702
  num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

5-43039612-TAC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43039612
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43039610
    reference: chr 5
allele count: 6
allele frequency: 5.264081417792595e-5
allele num: 113980
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000177721
  ensembl protein: ENSP00000315915
  ensembl transcript: ENST00000314890
  gene symbol: ANXA2R
  hgvsc: ENST00000314890.3:c.535_536delGT
  hgvsp: ENSP00000315915.3:p.Val179ThrfsTer12
  variant of: http://identifiers.org/hgnc/33463
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177738
  ensembl transcript: ENST00000503152
  gene symbol: CTD-2201E18.3
  hgvsc: ENST00000503152.1:n.194-24362_194-24361delGT
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9980
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5777
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4313
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2084
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12687
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3353
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3259
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4545
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3943
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5862
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3313
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15998
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2191
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2502
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1597
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3330
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21415
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 2729
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Val179ThrfsTer12
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 6
  allele frequency: 9.273283669747458e-5
  allele num: 64702
  num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: TAC
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum

5-43039618-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43039618
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43039618
    reference: chr 5
allele count: 1
allele frequency: 8.716116098666435e-6
allele num: 114730
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177721
  ensembl protein: ENSP00000315915
  ensembl transcript: ENST00000314890
  gene symbol: ANXA2R
  hgvsc: ENST00000314890.3:c.531C>G
  hgvsp: ENSP00000315915.3:p.Phe177Leu
  variant of: http://identifiers.org/hgnc/33463
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177738
  ensembl transcript: ENST00000503152
  gene symbol: CTD-2201E18.3
  hgvsc: ENST00000503152.1:n.194-24366C>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12725
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9980
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4623
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3256
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5774
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4541
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3932
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2726
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21438
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1597
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2187
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 5883
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 2512
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 3129
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16343
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Phe177Leu
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11992
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

5-43039618-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43039618
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43039618
    reference: chr 5
allele count: 175
allele frequency: 1.525320317266626e-3
allele num: 114730
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177721
  ensembl protein: ENSP00000315915
  ensembl transcript: ENST00000314890
  gene symbol: ANXA2R
  hgvsc: ENST00000314890.3:c.531C>A
  hgvsp: ENSP00000315915.3:p.Phe177Leu
  variant of: http://identifiers.org/hgnc/33463
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177738
  ensembl transcript: ENST00000503152
  gene symbol: CTD-2201E18.3
  hgvsc: ENST00000503152.1:n.194-24366C>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9980
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3111
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 7.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 4623
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 534
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  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 5774
  bin: 3.75e1
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genotype depth: GenotypeDepth
  all individuals: 835
  bin: 9.75e1
  variant carriers: 95
genotype depth: GenotypeDepth
  all individuals: 3256
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 7.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 12725
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4541
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3932
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 9.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3129
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2726
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 369
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 3334
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  variant carriers: 0
hgvs: p.Phe177Leu
num of homozygotes: 1
population: Other
  type: Population
  allele count: 1
  allele frequency: 1.213592233009709e-3
  allele num: 824
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/5-43039619-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43039619
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43039619
    reference: chr 5
allele count: 1
allele frequency: 8.708373972411871e-6
allele num: 114832
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177721
  ensembl protein: ENSP00000315915
  ensembl transcript: ENST00000314890
  gene symbol: ANXA2R
  hgvsc: ENST00000314890.3:c.530T>G
  hgvsp: ENSP00000315915.3:p.Phe177Cys
  variant of: http://identifiers.org/hgnc/33463
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177738
  ensembl transcript: ENST00000503152
  gene symbol: CTD-2201E18.3
  hgvsc: ENST00000503152.1:n.194-24367T>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4553
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1748
  bin: 6.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12738
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1603
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2191
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21376
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Phe177Cys
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11522
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum

5-43039623-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43039623
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43039623
    reference: chr 5
allele count: 1
allele frequency: 8.676639017110332e-6
allele num: 115252
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177721
  ensembl protein: ENSP00000315915
  ensembl transcript: ENST00000314890
  gene symbol: ANXA2R
  hgvsc: ENST00000314890.3:c.526G>C
  hgvsp: ENSP00000315915.3:p.Ala176Pro
  variant of: http://identifiers.org/hgnc/33463
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177738
  ensembl transcript: ENST00000503152
  gene symbol: CTD-2201E18.3
  hgvsc: ENST00000503152.1:n.194-24371G>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2081
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2800
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9995
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4904
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4553
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12798
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3955
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1748
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3265
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2688
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5793
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2190
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2731
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3336
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2834
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16620
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5904
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2528
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21375
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1606
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala176Pro
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10312
  num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff

5-43039625-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43039625
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43039625
    reference: chr 5
allele count: 1
allele frequency: 8.644387199391435e-6
allele num: 115682
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177738
  ensembl transcript: ENST00000503152
  gene symbol: CTD-2201E18.3
  hgvsc: ENST00000503152.1:n.194-24373C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177721
  ensembl protein: ENSP00000315915
  ensembl transcript: ENST00000314890
  gene symbol: ANXA2R
  hgvsc: ENST00000314890.3:c.524C>T
  hgvsp: ENSP00000315915.3:p.Ala175Val
  variant of: http://identifiers.org/hgnc/33463
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2684
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10002
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5794
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3266
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4556
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2687
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3952
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
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genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2081
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5919
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1604
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3338
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2189
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2732
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 2530
  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 369
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala175Val
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 65112
  num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD

http://identifiers.org/exac.variant/5-43039635-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43039635
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43039635
    reference: chr 5
allele count: 1
allele frequency: 8.527184664711099e-6
allele num: 117272
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177721
  ensembl protein: ENSP00000315915
  ensembl transcript: ENST00000314890
  gene symbol: ANXA2R
  hgvsc: ENST00000314890.3:c.514G>T
  hgvsp: ENSP00000315915.3:p.Val172Phe
  variant of: http://identifiers.org/hgnc/33463
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177738
  ensembl transcript: ENST00000503152
  gene symbol: CTD-2201E18.3
  hgvsc: ENST00000503152.1:n.194-24383G>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4555
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5796
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13029
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2687
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3954
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2040
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 114
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 27
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genotype quality: GenotypeQuality
  all individuals: 1606
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 269
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3344
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val172Phe
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.526484506182262e-5
  allele num: 65510
  num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

5-43039637-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43039637
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43039637
    reference: chr 5
allele count: 1
allele frequency: 8.498487269266071e-6
allele num: 117668
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177738
  ensembl transcript: ENST00000503152
  gene symbol: CTD-2201E18.3
  hgvsc: ENST00000503152.1:n.194-24385G>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177721
  ensembl protein: ENSP00000315915
  ensembl transcript: ENST00000314890
  gene symbol: ANXA2R
  hgvsc: ENST00000314890.3:c.512G>C
  hgvsp: ENSP00000315915.3:p.Arg171Pro
  variant of: http://identifiers.org/hgnc/33463
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5937
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
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genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2190
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg171Pro
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.523925632429137e-5
  allele num: 65620
  num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: African
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum

5-43039640-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43039640
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43039640
    reference: chr 5
allele count: 1
allele frequency: 8.450656616019065e-6
allele num: 118334
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177721
  ensembl protein: ENSP00000315915
  ensembl transcript: ENST00000314890
  gene symbol: ANXA2R
  hgvsc: ENST00000314890.3:c.509T>A
  hgvsp: ENSP00000315915.3:p.Leu170His
  variant of: http://identifiers.org/hgnc/33463
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177738
  ensembl transcript: ENST00000503152
  gene symbol: CTD-2201E18.3
  hgvsc: ENST00000503152.1:n.194-24388T>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3266
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10035
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5792
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6288
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2688
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4554
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13134
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3954
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1606
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18166
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2745
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21375
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1606
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2553
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2190
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3358
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6047
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu170His
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10358
  num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: Latino
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

5-43039652-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43039652
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43039652
    reference: chr 5
allele count: 26
allele frequency: 2.172205791434826e-4
allele num: 119694
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177721
  ensembl protein: ENSP00000315915
  ensembl transcript: ENST00000314890
  gene symbol: ANXA2R
  hgvsc: ENST00000314890.3:c.497T>C
  hgvsp: ENSP00000315915.3:p.Leu166Pro
  variant of: http://identifiers.org/hgnc/33463
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177738
  ensembl transcript: ENST00000503152
  gene symbol: CTD-2201E18.3
  hgvsc: ENST00000503152.1:n.194-24400T>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10060
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2685
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5786
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7014
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3954
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1746
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3264
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4554
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18914
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1602
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2755
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 6126
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 21380
  bin: 9.75e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 3364
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2191
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2559
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu166Pro
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10376
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum

5-43039660-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43039660
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43039660
    reference: chr 5
allele count: 1
allele frequency: 8.320990530712775e-6
allele num: 120178
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177738
  ensembl transcript: ENST00000503152
  gene symbol: CTD-2201E18.3
  hgvsc: ENST00000503152.1:n.194-24408A>G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177721
  ensembl protein: ENSP00000315915
  ensembl transcript: ENST00000314890
  gene symbol: ANXA2R
  hgvsc: ENST00000314890.3:c.489A>G
  hgvsp: ENST00000314890.3:c.489A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/33463
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10053
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3264
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2685
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1746
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4557
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13449
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3954
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21364
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6133
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2195
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2561
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 111
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 1604
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3367
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2748
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser163Ser
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8652
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

5-43039662-A-AGTG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43039662
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43039665
    reference: chr 5
allele count: 6
allele frequency: 4.989024146876871e-5
allele num: 120264
alternate allele: AGTG
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000177721
  ensembl protein: ENSP00000315915
  ensembl transcript: ENST00000314890
  gene symbol: ANXA2R
  hgvsc: ENST00000314890.3:c.486_487insCAC
  hgvsp: ENSP00000315915.3:p.Phe162_Ser163insHis
  variant of: http://identifiers.org/hgnc/33463
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177738
  ensembl transcript: ENST00000503152
  gene symbol: CTD-2201E18.3
  hgvsc: ENST00000503152.1:n.194-24411_194-24410insCAC
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 13475
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2686
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3953
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4555
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7353
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1745
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5771
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3264
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1606
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2750
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19348
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3369
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21370
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 54
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2565
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2194
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6127
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Phe162_Ser163insHis
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10384
  num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

5-43039664-A-AGC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43039664
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43039666
    reference: chr 5
allele count: 6
allele frequency: 4.985956223304359e-5
allele num: 120338
alternate allele: AGC
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000177721
  ensembl protein: ENSP00000315915
  ensembl transcript: ENST00000314890
  gene symbol: ANXA2R
  hgvsc: ENST00000314890.3:c.484_485insGC
  hgvsp: ENSP00000315915.3:p.Phe162CysfsTer35
  variant of: http://identifiers.org/hgnc/33463
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177738
  ensembl transcript: ENST00000503152
  gene symbol: CTD-2201E18.3
  hgvsc: ENST00000503152.1:n.194-24413_194-24412insGC
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 1745
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3953
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4553
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21368
  bin: 9.75e1
  variant carriers: 6
hgvs: p.Phe162CysfsTer35
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/5-43039665-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43039665
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43039665
    reference: chr 5
allele count: 6
allele frequency: 4.984547901505333e-5
allele num: 120372
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177738
  ensembl transcript: ENST00000503152
  gene symbol: CTD-2201E18.3
  hgvsc: ENST00000503152.1:n.194-24413T>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177721
  ensembl protein: ENSP00000315915
  ensembl transcript: ENST00000314890
  gene symbol: ANXA2R
  hgvsc: ENST00000314890.3:c.484T>G
  hgvsp: ENSP00000315915.3:p.Phe162Val
  variant of: http://identifiers.org/hgnc/33463
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3953
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Phe162Val
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

5-43039668-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43039668
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43039669
    reference: chr 5
allele count: 1
allele frequency: 8.300132802124834e-6
allele num: 120480
alternate allele: CT
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000177721
  ensembl protein: ENSP00000315915
  ensembl transcript: ENST00000314890
  gene symbol: ANXA2R
  hgvsc: ENST00000314890.3:c.480_481insA
  hgvsp: ENSP00000315915.3:p.Gly161ArgfsTer31
  variant of: http://identifiers.org/hgnc/33463
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177738
  ensembl transcript: ENST00000503152
  gene symbol: CTD-2201E18.3
  hgvsc: ENST00000503152.1:n.194-24417_194-24416insA
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 6135
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly161ArgfsTer31
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.511944360447536e-4
  allele num: 6614
  num of homozygotes: 0
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/5-43039669-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43039669
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43039669
    reference: chr 5
allele count: 9
allele frequency: 7.469127605895631e-5
allele num: 120496
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177721
  ensembl protein: ENSP00000315915
  ensembl transcript: ENST00000314890
  gene symbol: ANXA2R
  hgvsc: ENST00000314890.3:c.480G>T
  hgvsp: ENST00000314890.3:c.480G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/33463
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177738
  ensembl transcript: ENST00000503152
  gene symbol: CTD-2201E18.3
  hgvsc: ENST00000503152.1:n.194-24417G>T
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2684
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 2191
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  variant carriers: 0
hgvs: p.Pro160Pro
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8652
  num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

5-43039670-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43039670
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43039670
    reference: chr 5
allele count: 1
allele frequency: 8.296964970213896e-6
allele num: 120526
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177738
  ensembl transcript: ENST00000503152
  gene symbol: CTD-2201E18.3
  hgvsc: ENST00000503152.1:n.194-24418C>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177721
  ensembl protein: ENSP00000315915
  ensembl transcript: ENST00000314890
  gene symbol: ANXA2R
  hgvsc: ENST00000314890.3:c.479C>G
  hgvsp: ENSP00000315915.3:p.Pro160Arg
  variant of: http://identifiers.org/hgnc/33463
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5756
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19461
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2192
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro160Arg
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 900
  num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

5-43039675-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43039675
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43039675
    reference: chr 5
allele count: 2
allele frequency: 1.658429798666623e-5
allele num: 120596
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177738
  ensembl transcript: ENST00000503152
  gene symbol: CTD-2201E18.3
  hgvsc: ENST00000503152.1:n.194-24423C>T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177721
  ensembl protein: ENSP00000315915
  ensembl transcript: ENST00000314890
  gene symbol: ANXA2R
  hgvsc: ENST00000314890.3:c.474C>T
  hgvsp: ENST00000314890.3:c.474C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/33463
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3257
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.25e1
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genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.75e1
  variant carriers: 0
hgvs: p.His158His
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10390
  num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

5-43039678-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43039678
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43039678
    reference: chr 5
allele count: 2
allele frequency: 1.657797450307521e-5
allele num: 120642
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177721
  ensembl protein: ENSP00000315915
  ensembl transcript: ENST00000314890
  gene symbol: ANXA2R
  hgvsc: ENST00000314890.3:c.471C>T
  hgvsp: ENST00000314890.3:c.471C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/33463
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177738
  ensembl transcript: ENST00000503152
  gene symbol: CTD-2201E18.3
  hgvsc: ENST00000503152.1:n.194-24426C>T
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1744
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg157Arg
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10394
  num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

5-43039705-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43039705
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43039705
    reference: chr 5
allele count: 1
allele frequency: 8.280202036929701e-6
allele num: 120770
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177738
  ensembl transcript: ENST00000503152
  gene symbol: CTD-2201E18.3
  hgvsc: ENST00000503152.1:n.194-24453C>T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177721
  ensembl protein: ENSP00000315915
  ensembl transcript: ENST00000314890
  gene symbol: ANXA2R
  hgvsc: ENST00000314890.3:c.444C>T
  hgvsp: ENST00000314890.3:c.444C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/33463
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2072
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1744
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 194
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  variant carriers: 0
hgvs: p.Arg148Arg
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.504755025881786e-5
  allele num: 66456
  num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum

5-43039726-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43039726
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43039726
    reference: chr 5
allele count: 1
allele frequency: 8.281573498964803e-6
allele num: 120750
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177721
  ensembl protein: ENSP00000315915
  ensembl transcript: ENST00000314890
  gene symbol: ANXA2R
  hgvsc: ENST00000314890.3:c.423C>T
  hgvsp: ENST00000314890.3:c.423C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/33463
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177738
  ensembl transcript: ENST00000503152
  gene symbol: CTD-2201E18.3
  hgvsc: ENST00000503152.1:n.194-24474C>T
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9807
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3232
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 21265
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser141Ser
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66474
  num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQ

5-43039731-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43039731
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43039731
    reference: chr 5
allele count: 3
allele frequency: 2.484472049689441e-5
allele num: 120750
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177721
  ensembl protein: ENSP00000315915
  ensembl transcript: ENST00000314890
  gene symbol: ANXA2R
  hgvsc: ENST00000314890.3:c.418G>A
  hgvsp: ENSP00000315915.3:p.Asp140Asn
  variant of: http://identifiers.org/hgnc/33463
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177738
  ensembl transcript: ENST00000503152
  gene symbol: CTD-2201E18.3
  hgvsc: ENST00000503152.1:n.194-24479G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6583
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asp140Asn
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8650
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/5-43039736-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43039736
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43039736
    reference: chr 5
allele count: 4
allele frequency: 3.311642077724239e-5
allele num: 120786
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177738
  ensembl transcript: ENST00000503152
  gene symbol: CTD-2201E18.3
  hgvsc: ENST00000503152.1:n.194-24484T>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177721
  ensembl protein: ENSP00000315915
  ensembl transcript: ENST00000314890
  gene symbol: ANXA2R
  hgvsc: ENST00000314890.3:c.413T>G
  hgvsp: ENSP00000315915.3:p.Val138Gly
  variant of: http://identifiers.org/hgnc/33463
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3916
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 416
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Val138Gly
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66508
  num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

5-43039740-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43039740
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43039740
    reference: chr 5
allele count: 1
allele frequency: 8.282533792737874e-6
allele num: 120736
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177721
  ensembl protein: ENSP00000315915
  ensembl transcript: ENST00000314890
  gene symbol: ANXA2R
  hgvsc: ENST00000314890.3:c.409G>A
  hgvsp: ENSP00000315915.3:p.Glu137Lys
  variant of: http://identifiers.org/hgnc/33463
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177738
  ensembl transcript: ENST00000503152
  gene symbol: CTD-2201E18.3
  hgvsc: ENST00000503152.1:n.194-24488G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3916
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Glu137Lys
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16130
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: QD

5-43039742-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43039742
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43039742
    reference: chr 5
allele count: 1
allele frequency: 8.279242283746192e-6
allele num: 120784
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177738
  ensembl transcript: ENST00000503152
  gene symbol: CTD-2201E18.3
  hgvsc: ENST00000503152.1:n.194-24490C>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177721
  ensembl protein: ENSP00000315915
  ensembl transcript: ENST00000314890
  gene symbol: ANXA2R
  hgvsc: ENST00000314890.3:c.407C>G
  hgvsp: ENSP00000315915.3:p.Thr136Ser
  variant of: http://identifiers.org/hgnc/33463
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13801
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  variant carriers: 0
hgvs: p.Thr136Ser
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.503578516870151e-5
  allele num: 66508
  num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

5-43039749-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43039749
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43039749
    reference: chr 5
allele count: 1
allele frequency: 8.279927799029592e-6
allele num: 120774
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000177721
  ensembl protein: ENSP00000315915
  ensembl transcript: ENST00000314890
  gene symbol: ANXA2R
  hgvsc: ENST00000314890.3:c.400C>T
  hgvsp: ENSP00000315915.3:p.Gln134Ter
  variant of: http://identifiers.org/hgnc/33463
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177738
  ensembl transcript: ENST00000503152
  gene symbol: CTD-2201E18.3
  hgvsc: ENST00000503152.1:n.194-24497C>T
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2071
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4449
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13819
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6495
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9816
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2675
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3233
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5615
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3913
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18513
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21276
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5991
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2700
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1569
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2474
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3291
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2163
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gln134Ter
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66500
  num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

5-43039751-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43039751
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 43039751
    reference: chr 5
allele count: 11
allele frequency: 9.106261796748236e-5
allele num: 120796
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177721
  ensembl protein: ENSP00000315915
  ensembl transcript: ENST00000314890
  gene symbol: ANXA2R
  hgvsc: ENST00000314890.3:c.398A>G
  hgvsp: ENSP00000315915.3:p.Gln133Arg
  variant of: http://identifiers.org/hgnc/33463
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177738
  ensembl transcript: ENST00000503152
  gene symbol: CTD-2201E18.3
  hgvsc: ENST00000503152.1:n.194-24499A>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4442
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13829
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9813
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2673
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3914
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 6531
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5613
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3294
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21284
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 6009
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2489
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2711
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1571
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2163
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gln133Arg
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16160
  num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP

GenotypeDepth
all individuals: 21
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 292
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 345
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 600
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1511
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 799
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 108
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 534
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24822
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5157
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 597
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20327
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1681
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1767
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8144
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.241750358680058e-5
allele num: 44608
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 570
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8146
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4972
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6832
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6256
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.869999999999999e0

DP
type: SiteQuality
SIO_000300: 9.23477e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.07e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.04e-2

VQSLOD
type: SiteQuality
SIO_000300: -8.254e-1

FS
type: SiteQuality
SIO_000300: 7.71e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -3.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.87e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.13e0

GenotypeDepth
all individuals: 1
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 66
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
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variant carriers: 0

GenotypeDepth
all individuals: 4113
bin: 2.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 175
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7956
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 8705
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 30
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variant carriers: 0

GenotypeQuality
all individuals: 671
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variant carriers: 0

GenotypeQuality
all individuals: 802
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 804
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2096
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variant carriers: 0

GenotypeQuality
all individuals: 807
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variant carriers: 0

GenotypeQuality
all individuals: 175
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variant carriers: 0

GenotypeQuality
all individuals: 51
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variant carriers: 0

GenotypeQuality
all individuals: 2769
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6084
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5504
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4016
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 35368
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5010
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 440
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.622849724115547e-4
allele num: 6162
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 6.87171e5

VQSLOD
type: SiteQuality
SIO_000300: -2.959e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.68e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.74e-1

QD
type: SiteQuality
SIO_000300: 1.343e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.82e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.59e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.45e0

GenotypeDepth
all individuals: 20
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5
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variant carriers: 0

GenotypeDepth
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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: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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
all individuals: 49
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variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 9.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3784
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5624
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.13857998289136e-4
allele num: 4676
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5790
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 33264
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5244
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 418
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.306e1

DP
type: SiteQuality
SIO_000300: 6.42279e5

MQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.515e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: -2.691e0

FS
type: SiteQuality
SIO_000300: 9.548e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.06e-2

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

GenotypeDepth
all individuals: 47
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variant carriers: 0

GenotypeDepth
all individuals: 6
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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: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1414
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
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variant carriers: 0

GenotypeQuality
all individuals: 146
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variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5380
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30446
num of homozygotes: 0

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

Other
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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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East Asian
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num of homozygotes: 0

InbreedingCoeff
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SIO_000300: -4.13e-2

ReadPosRankSum
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SIO_000300: -3.02e0

VQSLOD
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FS
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ClippingRankSum
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MQRankSum
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DP
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SIO_000300: 1.1327e5

QD
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MQ
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SIO_000300: 5.915e1

BaseQRankSum
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SIO_000300: 2.45e0

GenotypeDepth
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variant carriers: 0

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

South Asian
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allele frequency: 2.747252747252747e-3
allele num: 364
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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European (Finnish)
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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DP
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FS
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BaseQRankSum
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MQRankSum
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SIO_000300: 6.94e-1

QD
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MQ
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SIO_000300: 5.844e1

GenotypeDepth
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variant carriers: 0

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

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

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

European (Finnish)
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African
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allele num: 1432
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South Asian
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VQSLOD
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MQ
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DP
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BaseQRankSum
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FS
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InbreedingCoeff
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SIO_000300: -2.59e-2

QD
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ReadPosRankSum
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SIO_000300: -8.95e-1

ClippingRankSum
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SIO_000300: 2.72e-1

MQRankSum
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SIO_000300: -4.28e-1

GenotypeDepth
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variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 712
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 310
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4330
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 56
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
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SIO_000300: -1.884e0

MQRankSum
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DP
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MQ
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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QD
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ReadPosRankSum
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SIO_000300: -9.88e-1

GenotypeDepth
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variant carriers: 0

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

African
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allele count: 1
allele frequency: 6.925207756232687e-4
allele num: 1444
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 count: 0
allele frequency: 0.0e0
allele num: 58
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Latino
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

African
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allele frequency: 6.896551724137931e-4
allele num: 1450
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 count: 0
allele frequency: 0.0e0
allele num: 4458
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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Other
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South Asian
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QD
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MQRankSum
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MQ
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VQSLOD
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FS
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DP
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 4492
num of homozygotes: 0

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

East Asian
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African
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allele frequency: 5.91715976331361e-4
allele num: 1690
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Other
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European (Non-Finnish)
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allele frequency: 1.77999288002848e-4
allele num: 5618
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Latino
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European (Finnish)
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InbreedingCoeff
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DP
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ReadPosRankSum
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BaseQRankSum
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QD
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MQRankSum
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MQ
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VQSLOD
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SIO_000300: 1.04e0

FS
type: SiteQuality
SIO_000300: 3.073e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.231e0

GenotypeDepth
all individuals: 30
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4098
bin: 2.25e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2230
bin: 7.5e0
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 5.973715651135006e-4
allele num: 1674
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 524
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5754
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1772
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 268
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 86
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.6285e5

VQSLOD
type: SiteQuality
SIO_000300: -2.962e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.186e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.41e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.87e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.01e-2

QD
type: SiteQuality
SIO_000300: 9.84e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.43e-1

GenotypeDepth
all individuals: 69
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variant carriers: 0

GenotypeQuality
all individuals: 112
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 185
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variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 524
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.337135614702154e-4
allele num: 1578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1764
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5714
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 82
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 268
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -2.12e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.964e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.19e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.344e0

DP
type: SiteQuality
SIO_000300: 1.61566e5

QD
type: SiteQuality
SIO_000300: 1.538e1

GenotypeDepth
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 171
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variant carriers: 0

GenotypeQuality
all individuals: 695
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variant carriers: 0

GenotypeQuality
all individuals: 25
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variant carriers: 1

GenotypeQuality
all individuals: 1740
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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
all individuals: 2510
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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
all individuals: 489
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GenotypeQuality
all individuals: 3575
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GenotypeQuality
all individuals: 16
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variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5710
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1774
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 530
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 78
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1468
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 268
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.05e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.589e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.15e-2

MQ
type: SiteQuality
SIO_000300: 5.519e1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.589e0

DP
type: SiteQuality
SIO_000300: 1.60097e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

QD
type: SiteQuality
SIO_000300: 1.029e1

GenotypeDepth
all individuals: 12
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variant carriers: 1

GenotypeQuality
all individuals: 25
bin: 4.75e1
variant carriers: 2

GenotypeQuality
all individuals: 319
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variant carriers: 1

GenotypeQuality
all individuals: 2642
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 56
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variant carriers: 0

GenotypeQuality
all individuals: 265
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variant carriers: 0

GenotypeQuality
all individuals: 26
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GenotypeQuality
all individuals: 179
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 266
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GenotypeQuality
all individuals: 14
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variant carriers: 0

GenotypeQuality
all individuals: 16
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GenotypeQuality
all individuals: 771
bin: 9.75e1
variant carriers: 84

GenotypeQuality
all individuals: 1701
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GenotypeQuality
all individuals: 3355
bin: 2.25e1
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GenotypeQuality
all individuals: 100
bin: 8.75e1
variant carriers: 3

GenotypeQuality
all individuals: 113
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GenotypeQuality
all individuals: 268
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variant carriers: 1

GenotypeQuality
all individuals: 189
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variant carriers: 2

GenotypeQuality
all individuals: 185
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variant carriers: 1

GenotypeQuality
all individuals: 162
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 79
allele frequency: 1.386938202247191e-2
allele num: 5696
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 1.69683257918552e-3
allele num: 1768
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 534
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.455604075691412e-3
allele num: 1374
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 1.111111111111111e-2
allele num: 270
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.5e-2
allele num: 80
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.168e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.66e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.82e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.75e-1

QD
type: SiteQuality
SIO_000300: 1.269e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.66185e5

VQSLOD
type: SiteQuality
SIO_000300: 6.44e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.61e-1

MQ
type: SiteQuality
SIO_000300: 5.871e1

GenotypeDepth
all individuals: 120
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variant carriers: 0

GenotypeQuality
all individuals: 2712
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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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 740
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 283
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GenotypeQuality
all individuals: 25
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GenotypeQuality
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GenotypeQuality
all individuals: 271
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GenotypeQuality
all individuals: 1714
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GenotypeQuality
all individuals: 98
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GenotypeQuality
all individuals: 191
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GenotypeQuality
all individuals: 27
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GenotypeQuality
all individuals: 113
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GenotypeQuality
all individuals: 186
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 536
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 270
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1770
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5680
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1348
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.623e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.22e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.017e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.37e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 4.3e0

DP
type: SiteQuality
SIO_000300: 1.64286e5

ClippingRankSum
type: SiteQuality
SIO_000300: -4.21e-1

GenotypeDepth
all individuals: 10
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variant carriers: 0

GenotypeQuality
all individuals: 67
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1645
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GenotypeQuality
all individuals: 16
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 266
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 544
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1786
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.111111111111111e-3
allele num: 900
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 76
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5526
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 6.5e0

FS
type: SiteQuality
SIO_000300: 3.424e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.66e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
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SIO_000300: -3.87e-1

VQSLOD
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DP
type: SiteQuality
SIO_000300: 1.58377e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.98e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.43e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.17e-1

GenotypeDepth
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 36
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 747
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GenotypeQuality
all individuals: 136
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GenotypeQuality
all individuals: 149
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GenotypeQuality
all individuals: 52
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 100
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GenotypeQuality
all individuals: 481
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GenotypeQuality
all individuals: 92
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 268
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.832844574780059e-4
allele num: 5456
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 70
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.529051987767584e-3
allele num: 654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1792
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East Asian
type: Population
allele count: 6
allele frequency: 1.115241635687732e-2
allele num: 538
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.47e-1

FS
type: SiteQuality
SIO_000300: 1.213e0

QD
type: SiteQuality
SIO_000300: 1.545e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 9.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.36e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.22e0

DP
type: SiteQuality
SIO_000300: 1.55015e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.23e-2

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9934
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.273328942003074e-5
allele num: 63762
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11472
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8518
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.95e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.43e-1

FS
type: SiteQuality
SIO_000300: 8.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.9e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.47e0

MQ
type: SiteQuality
SIO_000300: 5.993e1

QD
type: SiteQuality
SIO_000300: 1.739e1

DP
type: SiteQuality
SIO_000300: 2.318325e6

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.56852903347241e-5
allele num: 63754
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 784
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9938
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9006
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11474
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.59e0

DP
type: SiteQuality
SIO_000300: 2.318129e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

FS
type: SiteQuality
SIO_000300: 3.757e0

MQRankSum
type: SiteQuality
SIO_000300: 1.58e0

VQSLOD
type: SiteQuality
SIO_000300: -1.188e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.6e-2

MQ
type: SiteQuality
SIO_000300: 5.963e1

QD
type: SiteQuality
SIO_000300: 1.589e1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8522
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.136566087447463e-5
allele num: 63764
num of homozygotes: 0

African
type: Population
allele count: 159
allele frequency: 1.599597585513078e-2
allele num: 9940
num of homozygotes: 5

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

Latino
type: Population
allele count: 2
allele frequency: 1.742767514813524e-4
allele num: 11476
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 784
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.975e1

VQSLOD
type: SiteQuality
SIO_000300: 6.91e0

DP
type: SiteQuality
SIO_000300: 2.320109e6

MQRankSum
type: SiteQuality
SIO_000300: 3.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.898e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.11e-2

QD
type: SiteQuality
SIO_000300: 1.456e1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8522
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.004217714400482e-4
allele num: 9958
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9006
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63768
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11476
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.72e0

DP
type: SiteQuality
SIO_000300: 2.316415e6

MQ
type: SiteQuality
SIO_000300: 5.726e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.662e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.54e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

MQRankSum
type: SiteQuality
SIO_000300: -6.15e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.031e0

QD
type: SiteQuality
SIO_000300: 1.533e1

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.13607426223853e-5
allele num: 63774
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8522
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9012
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11474
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.796e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.67e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.35e-1

QD
type: SiteQuality
SIO_000300: 1.422e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

FS
type: SiteQuality
SIO_000300: 2.893e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.14e-1

DP
type: SiteQuality
SIO_000300: 2.317168e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.14e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.08e0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10002
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8522
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11476
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9024
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.2e-2

MQRankSum
type: SiteQuality
SIO_000300: -9.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.65e0

FS
type: SiteQuality
SIO_000300: 6.411e0

QD
type: SiteQuality
SIO_000300: 1.034e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.3e-2

DP
type: SiteQuality
SIO_000300: 2.320752e6

MQ
type: SiteQuality
SIO_000300: 5.961e1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8524
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10074
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.566906925728612e-5
allele num: 63820
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11480
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9030
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.27e1

FS
type: SiteQuality
SIO_000300: 4.392e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQ
type: SiteQuality
SIO_000300: 5.911e1

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

DP
type: SiteQuality
SIO_000300: 2.323727e6

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63814
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8520
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.10692937790569e-4
allele num: 9034
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10082
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.006e1

FS
type: SiteQuality
SIO_000300: 8.423999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.12e0

MQRankSum
type: SiteQuality
SIO_000300: 6.3e-1

DP
type: SiteQuality
SIO_000300: 2.324359e6

QD
type: SiteQuality
SIO_000300: 1.379e1

VQSLOD
type: SiteQuality
SIO_000300: -1.254e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.88e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.007e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.566268834382733e-5
allele num: 63846
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10140
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9048
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.67e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.977e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

DP
type: SiteQuality
SIO_000300: 2.328329e6

FS
type: SiteQuality
SIO_000300: 3.661e0

MQRankSum
type: SiteQuality
SIO_000300: 2.88e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.06e-1

QD
type: SiteQuality
SIO_000300: 1.269e1

MQ
type: SiteQuality
SIO_000300: 5.919e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10152
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9088
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8524
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63854
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.92e0

QD
type: SiteQuality
SIO_000300: 1.195e1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

DP
type: SiteQuality
SIO_000300: 2.329185e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.22e0

VQSLOD
type: SiteQuality
SIO_000300: 5.600000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.92e0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10190
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63914
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11480
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8528
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.722e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.92e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.155e0

DP
type: SiteQuality
SIO_000300: 2.334453e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.333e0

FS
type: SiteQuality
SIO_000300: 8.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.090000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.475e1

VQSLOD
type: SiteQuality
SIO_000300: 1.44e0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8544
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.786651008025054e-5
allele num: 10218
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 796
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64042
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.97e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.155e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.068e0

DP
type: SiteQuality
SIO_000300: 2.342704e6

MQRankSum
type: SiteQuality
SIO_000300: 1.38e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

QD
type: SiteQuality
SIO_000300: 1.166e1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64066
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10220
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8548
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11492
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 800
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.24e0

QD
type: SiteQuality
SIO_000300: 2.09e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

DP
type: SiteQuality
SIO_000300: 2.343625e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10222
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 800
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64096
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.169864295741694e-4
allele num: 8548
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.271e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.508e0

DP
type: SiteQuality
SIO_000300: 2.344694e6

QD
type: SiteQuality
SIO_000300: 1.286e1

FS
type: SiteQuality
SIO_000300: 1.63e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.54e0

MQRankSum
type: SiteQuality
SIO_000300: -1.768e0

MQ
type: SiteQuality
SIO_000300: 5.927e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.139e0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8566
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 806
num of homozygotes: 0

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

African
type: Population
allele count: 200
allele frequency: 1.952743604764694e-2
allele num: 10242
num of homozygotes: 2

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10100
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.555693839452396e-5
allele num: 64280
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.1e0

VQSLOD
type: SiteQuality
SIO_000300: 6.8e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.259e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.4e-1

DP
type: SiteQuality
SIO_000300: 2.361833e6

MQRankSum
type: SiteQuality
SIO_000300: 3.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.900000000000001e-3

MQ
type: SiteQuality
SIO_000300: 5.972e1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10516
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 804
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10256
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.552602161222208e-5
allele num: 64408
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.62e0

DP
type: SiteQuality
SIO_000300: 2.349707e6

MQRankSum
type: SiteQuality
SIO_000300: -1.124e0

FS
type: SiteQuality
SIO_000300: 8.378e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -6.943e-1

QD
type: SiteQuality
SIO_000300: 1.12e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.514e0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10266
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: 7
allele frequency: 6.548175865294668e-4
allele num: 10690
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8580
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 808
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.03e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

MQRankSum
type: SiteQuality
SIO_000300: 3.7e-1

FS
type: SiteQuality
SIO_000300: 1.75e0

VQSLOD
type: SiteQuality
SIO_000300: 2.72e0

DP
type: SiteQuality
SIO_000300: 2.351207e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.600000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.1e-1

QD
type: SiteQuality
SIO_000300: 1.251e1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 808
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10272
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8584
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.015506671474937e-5
allele num: 11092
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -9.53e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.4e-1

FS
type: SiteQuality
SIO_000300: 1.908e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.936e1

MQRankSum
type: SiteQuality
SIO_000300: 6.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.371e0

QD
type: SiteQuality
SIO_000300: 1.562e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.03e-1

DP
type: SiteQuality
SIO_000300: 2.354125e6

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11422
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.545881770962157e-5
allele num: 64688
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10276
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -4.35e-1

DP
type: SiteQuality
SIO_000300: 2.357101e6

FS
type: SiteQuality
SIO_000300: 2.447e0

VQSLOD
type: SiteQuality
SIO_000300: 4.83e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.5e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.397e0

QD
type: SiteQuality
SIO_000300: 9.970000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.96e-1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 812
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10276
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.722958827634333e-5
allele num: 11464
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.979e1

MQRankSum
type: SiteQuality
SIO_000300: -4.77e-1

QD
type: SiteQuality
SIO_000300: 1.341e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.11e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.97e-1

FS
type: SiteQuality
SIO_000300: 2.523e0

DP
type: SiteQuality
SIO_000300: 2.358275e6

VQSLOD
type: SiteQuality
SIO_000300: 2.75e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 6.66e-1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 812
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10276
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.11e-1

FS
type: SiteQuality
SIO_000300: 2.523e0

VQSLOD
type: SiteQuality
SIO_000300: 2.75e0

QD
type: SiteQuality
SIO_000300: 1.341e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

DP
type: SiteQuality
SIO_000300: 2.358275e6

MQRankSum
type: SiteQuality
SIO_000300: -4.77e-1

MQ
type: SiteQuality
SIO_000300: 5.979e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.97e-1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10276
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: 11464
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 812
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.97e-1

DP
type: SiteQuality
SIO_000300: 2.358275e6

QD
type: SiteQuality
SIO_000300: 1.341e1

FS
type: SiteQuality
SIO_000300: 2.523e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

MQ
type: SiteQuality
SIO_000300: 5.979e1

MQRankSum
type: SiteQuality
SIO_000300: -4.77e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.75e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.66e-1

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: 11522
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10294
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.541354542371836e-5
allele num: 64878
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.973e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.315e0

FS
type: SiteQuality
SIO_000300: 1.827e0

QD
type: SiteQuality
SIO_000300: 9.890000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: 2.82e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

DP
type: SiteQuality
SIO_000300: 2.369915e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.4e-2

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 136
allele frequency: 2.096242177625697e-3
allele num: 64878
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.535833081342606e-4
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 10
allele frequency: 8.679048776254123e-4
allele num: 11522
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.914319020788809e-4
allele num: 10294
num of homozygotes: 0

South Asian
type: Population
allele count: 22
allele frequency: 1.834556370913943e-3
allele num: 11992
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.827e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.315e0

VQSLOD
type: SiteQuality
SIO_000300: 2.82e0

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

DP
type: SiteQuality
SIO_000300: 2.369915e6

QD
type: SiteQuality
SIO_000300: 9.890000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.18e-1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10298
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.540927021696253e-5
allele num: 64896
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12064
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.975e1

QD
type: SiteQuality
SIO_000300: 1.645e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 2.361167e6

FS
type: SiteQuality
SIO_000300: 6.437e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.33e0

VQSLOD
type: SiteQuality
SIO_000300: -1.785e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.88e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.62e-1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12356
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11524
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 832
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.538698261270965e-5
allele num: 64990
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.28e0

FS
type: SiteQuality
SIO_000300: 2.543e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.11e0

VQSLOD
type: SiteQuality
SIO_000300: -9.677e-1

QD
type: SiteQuality
SIO_000300: 6.82e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.62e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

DP
type: SiteQuality
SIO_000300: 2.366413e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10318
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: 1
allele frequency: 7.903888713246918e-5
allele num: 12652
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
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MQRankSum
type: SiteQuality
SIO_000300: -2.31e-1

DP
type: SiteQuality
SIO_000300: 2.368805e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

QD
type: SiteQuality
SIO_000300: 9.73e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.021e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.87e-1

FS
type: SiteQuality
SIO_000300: 4.821e0

VQSLOD
type: SiteQuality
SIO_000300: 5.5e-1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10344
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13770
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.62e0

FS
type: SiteQuality
SIO_000300: 9.5e-1

QD
type: SiteQuality
SIO_000300: 1.701e1

MQRankSum
type: SiteQuality
SIO_000300: 6.22e-1

DP
type: SiteQuality
SIO_000300: 2.383607e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.9e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.42e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.78e-1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10350
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14030
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQ
type: SiteQuality
SIO_000300: 6.054e1

VQSLOD
type: SiteQuality
SIO_000300: 2.32e0

QD
type: SiteQuality
SIO_000300: 1.558e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.24e-1

DP
type: SiteQuality
SIO_000300: 2.387478e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.86e0

FS
type: SiteQuality
SIO_000300: 1.875e0

MQRankSum
type: SiteQuality
SIO_000300: 1.29e0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.519895431194334e-5
allele num: 65794
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
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num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
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: 11550
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.43e-1

FS
type: SiteQuality
SIO_000300: 4.272e0

MQ
type: SiteQuality
SIO_000300: 5.928e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.99e-1

QD
type: SiteQuality
SIO_000300: 1.214e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -3.45e-1

DP
type: SiteQuality
SIO_000300: 2.39225e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.72e0

Latino
type: Population
allele count: 7
allele frequency: 6.058507876060239e-4
allele num: 11554
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15458
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 19
allele frequency: 2.872260015117158e-4
allele num: 66150
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.88e-1

QD
type: SiteQuality
SIO_000300: 1.297e1

VQSLOD
type: SiteQuality
SIO_000300: 1.71e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.16e-1

FS
type: SiteQuality
SIO_000300: 2.163e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.72e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 5.580000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

DP
type: SiteQuality
SIO_000300: 2.406794e6

MQRankSum
type: SiteQuality
SIO_000300: -1.18e-1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508659706716553e-5
allele num: 66284
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15804
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.454e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.533e0

FS
type: SiteQuality
SIO_000300: 7.292e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.195e0

VQSLOD
type: SiteQuality
SIO_000300: -1.434e0

MQRankSum
type: SiteQuality
SIO_000300: -1.774e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.379999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 2.410665e6

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66302
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 5.189413596263622e-4
allele num: 11562
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15854
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.107e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 2.41105e6

FS
type: SiteQuality
SIO_000300: 2.675e0

MQ
type: SiteQuality
SIO_000300: 5.503e1

VQSLOD
type: SiteQuality
SIO_000300: -1.74e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -7.13e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.935e0

QD
type: SiteQuality
SIO_000300: 8.09e0

Latino
type: Population
allele count: 6
allele frequency: 5.191209551825575e-4
allele num: 11558
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15902
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66328
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 7.58e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.97e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.6e-2

MQRankSum
type: SiteQuality
SIO_000300: -3.327e0

MQ
type: SiteQuality
SIO_000300: 5.497e1

DP
type: SiteQuality
SIO_000300: 2.411501e6

FS
type: SiteQuality
SIO_000300: 2.554e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.72e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.967e0

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

Latino
type: Population
allele count: 6
allele frequency: 5.191209551825575e-4
allele num: 11558
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15926
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66340
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.682e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.29e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.32e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.018e0

DP
type: SiteQuality
SIO_000300: 2.411768e6

VQSLOD
type: SiteQuality
SIO_000300: -6.312e0

MQ
type: SiteQuality
SIO_000300: 5.497e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.99e0

QD
type: SiteQuality
SIO_000300: 7.58e0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16002
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66374
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.411e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 2.412583e6

MQ
type: SiteQuality
SIO_000300: 6.079e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.38e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.41e0

MQRankSum
type: SiteQuality
SIO_000300: -1.005e0

QD
type: SiteQuality
SIO_000300: 1.859e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.238e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.44e0

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: 11558
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66364
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
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South Asian
type: Population
allele count: 9
allele frequency: 5.617977528089888e-4
allele num: 16020
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ClippingRankSum
type: SiteQuality
SIO_000300: -9.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.412424e6

MQRankSum
type: SiteQuality
SIO_000300: 5.7e-2

QD
type: SiteQuality
SIO_000300: 1.451e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.26e0

VQSLOD
type: SiteQuality
SIO_000300: 1.55e0

MQ
type: SiteQuality
SIO_000300: 5.934e1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66380
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.624639076034648e-5
allele num: 10390
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16038
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VQSLOD
type: SiteQuality
SIO_000300: -1.032e0

FS
type: SiteQuality
SIO_000300: 2.507e0

MQ
type: SiteQuality
SIO_000300: 5.89e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.058e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -7.81e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.2e0

MQRankSum
type: SiteQuality
SIO_000300: -5.610000000000001e-1

DP
type: SiteQuality
SIO_000300: 2.412018e6

QD
type: SiteQuality
SIO_000300: 1.423e1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16084
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.012229652388698e-5
allele num: 66396
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 6.13e-1

QD
type: SiteQuality
SIO_000300: 1.303e1

DP
type: SiteQuality
SIO_000300: 2.412508e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.409e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.37e0

VQSLOD
type: SiteQuality
SIO_000300: 2.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.46e-1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66408
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 2
allele frequency: 1.730103806228374e-4
allele num: 11560
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: 900
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QD
type: SiteQuality
SIO_000300: 1.629e1

FS
type: SiteQuality
SIO_000300: 1.107e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.454e0

VQSLOD
type: SiteQuality
SIO_000300: 1.96e0

DP
type: SiteQuality
SIO_000300: 2.412954e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.95e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.9e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16196
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
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: 11560
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.40907e6

QD
type: SiteQuality
SIO_000300: 1.331e1

MQRankSum
type: SiteQuality
SIO_000300: 2.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.49e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

FS
type: SiteQuality
SIO_000300: 4.818e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.162e0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16166
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Latino
type: Population
allele count: 1
allele frequency: 8.653513326410523e-5
allele num: 11556
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.19e-1

QD
type: SiteQuality
SIO_000300: 1.07e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.89e0

MQRankSum
type: SiteQuality
SIO_000300: -1.4e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.04e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 2.400502e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.14e-1

MQ
type: SiteQuality
SIO_000300: 5.896e1

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

Latino
type: Population
allele count: 2
allele frequency: 1.730103806228374e-4
allele num: 11560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50407604608489e-5
allele num: 66486
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
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FS
type: SiteQuality
SIO_000300: 1.222e0

MQRankSum
type: SiteQuality
SIO_000300: -2.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.94e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.079e0

DP
type: SiteQuality
SIO_000300: 2.399253e6

QD
type: SiteQuality
SIO_000300: 1.479e1

VQSLOD
type: SiteQuality
SIO_000300: 4.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.28e-1

African
type: Population
allele count: 4
allele frequency: 3.849855630413859e-4
allele num: 10390
num of homozygotes: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 904
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8650
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MQRankSum
type: SiteQuality
SIO_000300: -1.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.45e0

FS
type: SiteQuality
SIO_000300: 6.185e0

DP
type: SiteQuality
SIO_000300: 2.397663e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

QD
type: SiteQuality
SIO_000300: 1.525e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 5.08e0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 1.3595e1

VQSLOD
type: SiteQuality
SIO_000300: -1.693e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -7.6e-2

MQRankSum
type: SiteQuality
SIO_000300: -7.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.419999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.258e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

DP
type: SiteQuality
SIO_000300: 2.397458e6

QD
type: SiteQuality
SIO_000300: 1.459e1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16154
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

East Asian
type: Population
allele count: 0
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allele num: 8654
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.04e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 2.397103e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.719e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.21e0

MQRankSum
type: SiteQuality
SIO_000300: 4.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.4e-1

QD
type: SiteQuality
SIO_000300: 1.381e1

South Asian
type: Population
allele count: 0
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allele num: 16150
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
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FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.54e0

VQSLOD
type: SiteQuality
SIO_000300: -3.046e-1

DP
type: SiteQuality
SIO_000300: 2.39812e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.82e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.41e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.83e-1

QD
type: SiteQuality
SIO_000300: 9.35e0

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
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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: 8654
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 1.653936368557166e-4
allele num: 66508
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.969e1

MQRankSum
type: SiteQuality
SIO_000300: 4.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.76e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.59e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.12e-1

QD
type: SiteQuality
SIO_000300: 1.359e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.7e-3

DP
type: SiteQuality
SIO_000300: 2.398371e6