17-7162219-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7162219
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7162219
    reference: chr 17
allele count: 2
allele frequency: 1.647582173160887e-5
allele num: 121390
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000460947
  ensembl transcript: ENST00000570322
  gene symbol: ELP5
  hgvsc: ENST00000570322.1:c.713+217C>T
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379868
  ensembl transcript: ENST00000396627
  gene symbol: ELP5
  hgvsc: ENST00000396627.2:c.810C>T
  hgvsp: ENST00000396627.2:c.810C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000459835
  ensembl transcript: ENST00000574993
  gene symbol: ELP5
  hgvsc: ENST00000574993.1:c.*112C>T
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379869
  ensembl transcript: ENST00000396628
  gene symbol: ELP5
  hgvsc: ENST00000396628.2:c.810C>T
  hgvsp: ENST00000396628.2:c.810C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000262302
  ensembl protein: ENSP00000460571
  ensembl transcript: ENST00000577138
  gene symbol: RP1-4G17.5
  hgvsc: ENST00000577138.1:c.223+2921G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000346412
  ensembl transcript: ENST00000354429
  gene symbol: ELP5
  hgvsc: ENST00000354429.2:c.810C>T
  hgvsp: ENST00000354429.2:c.810C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000459010
  ensembl transcript: ENST00000576496
  gene symbol: ELP5
  hgvsc: ENST00000576496.1:c.758C>T
  hgvsp: ENST00000576496.1:c.758C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000459535
  ensembl transcript: ENST00000571146
  gene symbol: ELP5
  hgvsc: ENST00000571146.1:c.*468C>T
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000349111
  ensembl transcript: ENST00000356683
  gene symbol: ELP5
  hgvsc: ENST00000356683.2:c.*112C>T
  variant of: http://identifiers.org/hgnc/30617
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13077
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4122
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26231
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13312
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3132
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3632
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ile270Ile
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum

17-7162222-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7162222
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7162222
    reference: chr 17
allele count: 11
allele frequency: 9.062000560196398e-5
allele num: 121386
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000459835
  ensembl transcript: ENST00000574993
  gene symbol: ELP5
  hgvsc: ENST00000574993.1:c.*115G>C
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000346412
  ensembl transcript: ENST00000354429
  gene symbol: ELP5
  hgvsc: ENST00000354429.2:c.813G>C
  hgvsp: ENST00000354429.2:c.813G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000459010
  ensembl transcript: ENST00000576496
  gene symbol: ELP5
  hgvsc: ENST00000576496.1:c.761G>C
  hgvsp: ENST00000576496.1:c.761G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379869
  ensembl transcript: ENST00000396628
  gene symbol: ELP5
  hgvsc: ENST00000396628.2:c.813G>C
  hgvsp: ENST00000396628.2:c.813G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000459535
  ensembl transcript: ENST00000571146
  gene symbol: ELP5
  hgvsc: ENST00000571146.1:c.*471G>C
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000460947
  ensembl transcript: ENST00000570322
  gene symbol: ELP5
  hgvsc: ENST00000570322.1:c.713+220G>C
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000262302
  ensembl protein: ENSP00000460571
  ensembl transcript: ENST00000577138
  gene symbol: RP1-4G17.5
  hgvsc: ENST00000577138.1:c.223+2918C>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379868
  ensembl transcript: ENST00000396627
  gene symbol: ELP5
  hgvsc: ENST00000396627.2:c.813G>C
  hgvsp: ENST00000396627.2:c.813G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000349111
  ensembl transcript: ENST00000356683
  gene symbol: ELP5
  hgvsc: ENST00000356683.2:c.*115G>C
  variant of: http://identifiers.org/hgnc/30617
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26224
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13076
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13310
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4117
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3632
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 988
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu271Leu
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

17-7162254-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7162254
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7162254
    reference: chr 17
allele count: 2
allele frequency: 1.654396558855158e-5
allele num: 120890
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000459010
  ensembl transcript: ENST00000576496
  gene symbol: ELP5
  hgvsc: ENST00000576496.1:c.*5G>A
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000459535
  ensembl transcript: ENST00000571146
  gene symbol: ELP5
  hgvsc: ENST00000571146.1:c.*503G>A
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000460947
  ensembl transcript: ENST00000570322
  gene symbol: ELP5
  hgvsc: ENST00000570322.1:c.713+252G>A
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000349111
  ensembl transcript: ENST00000356683
  gene symbol: ELP5
  hgvsc: ENST00000356683.2:c.*147G>A
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379868
  ensembl transcript: ENST00000396627
  gene symbol: ELP5
  hgvsc: ENST00000396627.2:c.836+9G>A
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000262302
  ensembl protein: ENSP00000460571
  ensembl transcript: ENST00000577138
  gene symbol: RP1-4G17.5
  hgvsc: ENST00000577138.1:c.223+2886C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000346412
  ensembl transcript: ENST00000354429
  gene symbol: ELP5
  hgvsc: ENST00000354429.2:c.836+9G>A
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000459835
  ensembl transcript: ENST00000574993
  gene symbol: ELP5
  hgvsc: ENST00000574993.1:c.*147G>A
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379869
  ensembl transcript: ENST00000396628
  gene symbol: ELP5
  hgvsc: ENST00000396628.2:c.836+9G>A
  variant of: http://identifiers.org/hgnc/30617
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12628
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13175
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1738
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3963
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25475
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3056
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 753
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQ

17-7162255-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7162255
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7162255
    reference: chr 17
allele count: 1
allele frequency: 8.275816409288777e-6
allele num: 120834
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000459010
  ensembl transcript: ENST00000576496
  gene symbol: ELP5
  hgvsc: ENST00000576496.1:c.*6G>A
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000459835
  ensembl transcript: ENST00000574993
  gene symbol: ELP5
  hgvsc: ENST00000574993.1:c.*148G>A
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000459535
  ensembl transcript: ENST00000571146
  gene symbol: ELP5
  hgvsc: ENST00000571146.1:c.*504G>A
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000349111
  ensembl transcript: ENST00000356683
  gene symbol: ELP5
  hgvsc: ENST00000356683.2:c.*148G>A
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379869
  ensembl transcript: ENST00000396628
  gene symbol: ELP5
  hgvsc: ENST00000396628.2:c.836+10G>A
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379868
  ensembl transcript: ENST00000396627
  gene symbol: ELP5
  hgvsc: ENST00000396627.2:c.836+10G>A
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000262302
  ensembl protein: ENSP00000460571
  ensembl transcript: ENST00000577138
  gene symbol: RP1-4G17.5
  hgvsc: ENST00000577138.1:c.223+2885C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000460947
  ensembl transcript: ENST00000570322
  gene symbol: ELP5
  hgvsc: ENST00000570322.1:c.713+253G>A
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000346412
  ensembl transcript: ENST00000354429
  gene symbol: ELP5
  hgvsc: ENST00000354429.2:c.836+10G>A
  variant of: http://identifiers.org/hgnc/30617
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13176
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12517
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3925
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25346
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ

17-7162261-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7162261
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7162261
    reference: chr 17
allele count: 3
allele frequency: 2.492025518341308e-5
allele num: 120384
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000459010
  ensembl transcript: ENST00000576496
  gene symbol: ELP5
  hgvsc: ENST00000576496.1:c.*12G>A
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379868
  ensembl transcript: ENST00000396627
  gene symbol: ELP5
  hgvsc: ENST00000396627.2:c.836+16G>A
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000459535
  ensembl transcript: ENST00000571146
  gene symbol: ELP5
  hgvsc: ENST00000571146.1:c.*510G>A
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000349111
  ensembl transcript: ENST00000356683
  gene symbol: ELP5
  hgvsc: ENST00000356683.2:c.*154G>A
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000346412
  ensembl transcript: ENST00000354429
  gene symbol: ELP5
  hgvsc: ENST00000354429.2:c.836+16G>A
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000262302
  ensembl protein: ENSP00000460571
  ensembl transcript: ENST00000577138
  gene symbol: RP1-4G17.5
  hgvsc: ENST00000577138.1:c.223+2879C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000460947
  ensembl transcript: ENST00000570322
  gene symbol: ELP5
  hgvsc: ENST00000570322.1:c.713+259G>A
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000459835
  ensembl transcript: ENST00000574993
  gene symbol: ELP5
  hgvsc: ENST00000574993.1:c.*154G>A
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379869
  ensembl transcript: ENST00000396628
  gene symbol: ELP5
  hgvsc: ENST00000396628.2:c.836+16G>A
  variant of: http://identifiers.org/hgnc/30617
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3699
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2372
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11390
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24359
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13333
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8361
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2971
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3585
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2361
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum

17-7162264-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7162264
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7162264
    reference: chr 17
allele count: 2
allele frequency: 1.6627315353663e-5
allele num: 120284
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000460947
  ensembl transcript: ENST00000570322
  gene symbol: ELP5
  hgvsc: ENST00000570322.1:c.713+262T>C
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000459835
  ensembl transcript: ENST00000574993
  gene symbol: ELP5
  hgvsc: ENST00000574993.1:c.*157T>C
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000262302
  ensembl protein: ENSP00000460571
  ensembl transcript: ENST00000577138
  gene symbol: RP1-4G17.5
  hgvsc: ENST00000577138.1:c.223+2876A>G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000459535
  ensembl transcript: ENST00000571146
  gene symbol: ELP5
  hgvsc: ENST00000571146.1:c.*513T>C
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000346412
  ensembl transcript: ENST00000354429
  gene symbol: ELP5
  hgvsc: ENST00000354429.2:c.836+19T>C
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000349111
  ensembl transcript: ENST00000356683
  gene symbol: ELP5
  hgvsc: ENST00000356683.2:c.*157T>C
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379868
  ensembl transcript: ENST00000396627
  gene symbol: ELP5
  hgvsc: ENST00000396627.2:c.836+19T>C
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000459010
  ensembl transcript: ENST00000576496
  gene symbol: ELP5
  hgvsc: ENST00000576496.1:c.*15T>C
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379869
  ensembl transcript: ENST00000396628
  gene symbol: ELP5
  hgvsc: ENST00000396628.2:c.836+19T>C
  variant of: http://identifiers.org/hgnc/30617
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3594
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2908
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10811
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13529
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23853
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 955
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1216
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: T
site quality: QD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD

17-7162266-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7162266
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7162266
    reference: chr 17
allele count: 4
allele frequency: 3.328285433758799e-5
allele num: 120182
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379869
  ensembl transcript: ENST00000396628
  gene symbol: ELP5
  hgvsc: ENST00000396628.2:c.836+21C>T
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000459835
  ensembl transcript: ENST00000574993
  gene symbol: ELP5
  hgvsc: ENST00000574993.1:c.*159C>T
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000349111
  ensembl transcript: ENST00000356683
  gene symbol: ELP5
  hgvsc: ENST00000356683.2:c.*159C>T
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000346412
  ensembl transcript: ENST00000354429
  gene symbol: ELP5
  hgvsc: ENST00000354429.2:c.836+21C>T
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000262302
  ensembl protein: ENSP00000460571
  ensembl transcript: ENST00000577138
  gene symbol: RP1-4G17.5
  hgvsc: ENST00000577138.1:c.223+2874G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000459535
  ensembl transcript: ENST00000571146
  gene symbol: ELP5
  hgvsc: ENST00000571146.1:c.*515C>T
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000460947
  ensembl transcript: ENST00000570322
  gene symbol: ELP5
  hgvsc: ENST00000570322.1:c.713+264C>T
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379868
  ensembl transcript: ENST00000396627
  gene symbol: ELP5
  hgvsc: ENST00000396627.2:c.836+21C>T
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000459010
  ensembl transcript: ENST00000576496
  gene symbol: ELP5
  hgvsc: ENST00000576496.1:c.*17C>T
  variant of: http://identifiers.org/hgnc/30617
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10573
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3195
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1952
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3560
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23426
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13646
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 852
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8131
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3551
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2877
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP

17-7162267-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7162267
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7162267
    reference: chr 17
allele count: 13
allele frequency: 1.082629624077683e-4
allele num: 120078
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379868
  ensembl transcript: ENST00000396627
  gene symbol: ELP5
  hgvsc: ENST00000396627.2:c.836+22G>A
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000459835
  ensembl transcript: ENST00000574993
  gene symbol: ELP5
  hgvsc: ENST00000574993.1:c.*160G>A
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000349111
  ensembl transcript: ENST00000356683
  gene symbol: ELP5
  hgvsc: ENST00000356683.2:c.*160G>A
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000460947
  ensembl transcript: ENST00000570322
  gene symbol: ELP5
  hgvsc: ENST00000570322.1:c.713+265G>A
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000346412
  ensembl transcript: ENST00000354429
  gene symbol: ELP5
  hgvsc: ENST00000354429.2:c.836+22G>A
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000459010
  ensembl transcript: ENST00000576496
  gene symbol: ELP5
  hgvsc: ENST00000576496.1:c.*18G>A
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000459535
  ensembl transcript: ENST00000571146
  gene symbol: ELP5
  hgvsc: ENST00000571146.1:c.*516G>A
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379869
  ensembl transcript: ENST00000396628
  gene symbol: ELP5
  hgvsc: ENST00000396628.2:c.836+22G>A
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000262302
  ensembl protein: ENSP00000460571
  ensembl transcript: ENST00000577138
  gene symbol: RP1-4G17.5
  hgvsc: ENST00000577138.1:c.223+2873C>T
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3654
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22891
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3503
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10134
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13689
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2456
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3501
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1208
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 951
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 984
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

17-7162839-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7162839
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7162839
    reference: chr 17
allele count: 1
allele frequency: 8.258456659619451e-6
allele num: 121088
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000459835
  ensembl transcript: ENST00000574993
  gene symbol: ELP5
  hgvsc: ENST00000574993.1:c.*732C>T
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379869
  ensembl transcript: ENST00000396628
  gene symbol: ELP5
  hgvsc: ENST00000396628.2:c.837-51C>T
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000262302
  ensembl protein: ENSP00000460571
  ensembl transcript: ENST00000577138
  gene symbol: RP1-4G17.5
  hgvsc: ENST00000577138.1:c.223+2301G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000346412
  ensembl transcript: ENST00000354429
  gene symbol: ELP5
  hgvsc: ENST00000354429.2:c.837-51C>T
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379868
  ensembl transcript: ENST00000396627
  gene symbol: ELP5
  hgvsc: ENST00000396627.2:c.837-51C>T
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000349111
  ensembl transcript: ENST00000356683
  gene symbol: ELP5
  hgvsc: ENST00000356683.2:c.*732C>T
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000460947
  ensembl transcript: ENST00000570322
  gene symbol: ELP5
  hgvsc: ENST00000570322.1:c.714-51C>T
  variant of: http://identifiers.org/hgnc/30617
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17235
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4738
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24525
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6362
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5188
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34992
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1616
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2504
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP

17-7162844-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7162844
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7162844
    reference: chr 17
allele count: 1
allele frequency: 8.254911672445104e-6
allele num: 121140
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000349111
  ensembl transcript: ENST00000356683
  gene symbol: ELP5
  hgvsc: ENST00000356683.2:c.*737C>T
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379868
  ensembl transcript: ENST00000396627
  gene symbol: ELP5
  hgvsc: ENST00000396627.2:c.837-46C>T
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000262302
  ensembl protein: ENSP00000460571
  ensembl transcript: ENST00000577138
  gene symbol: RP1-4G17.5
  hgvsc: ENST00000577138.1:c.223+2296G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000346412
  ensembl transcript: ENST00000354429
  gene symbol: ELP5
  hgvsc: ENST00000354429.2:c.837-46C>T
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000460947
  ensembl transcript: ENST00000570322
  gene symbol: ELP5
  hgvsc: ENST00000570322.1:c.714-46C>T
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000459835
  ensembl transcript: ENST00000574993
  gene symbol: ELP5
  hgvsc: ENST00000574993.1:c.*737C>T
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379869
  ensembl transcript: ENST00000396628
  gene symbol: ELP5
  hgvsc: ENST00000396628.2:c.837-46C>T
  variant of: http://identifiers.org/hgnc/30617
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6695
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24673
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4733
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17269
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 862
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36025
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum

http://identifiers.org/exac.variant/17-7162845-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7162845
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7162844
    reference: chr 17
allele count: 1
allele frequency: 8.253140319891718e-6
allele num: 121166
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000262302
  ensembl protein: ENSP00000460571
  ensembl transcript: ENST00000577138
  gene symbol: RP1-4G17.5
  hgvsc: ENST00000577138.1:c.223+2294delT
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379869
  ensembl transcript: ENST00000396628
  gene symbol: ELP5
  hgvsc: ENST00000396628.2:c.837-43delA
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000459835
  ensembl transcript: ENST00000574993
  gene symbol: ELP5
  hgvsc: ENST00000574993.1:c.*740delA
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000460947
  ensembl transcript: ENST00000570322
  gene symbol: ELP5
  hgvsc: ENST00000570322.1:c.714-43delA
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000349111
  ensembl transcript: ENST00000356683
  gene symbol: ELP5
  hgvsc: ENST00000356683.2:c.*740delA
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000346412
  ensembl transcript: ENST00000354429
  gene symbol: ELP5
  hgvsc: ENST00000354429.2:c.837-43delA
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379868
  ensembl transcript: ENST00000396627
  gene symbol: ELP5
  hgvsc: ENST00000396627.2:c.837-43delA
  variant of: http://identifiers.org/hgnc/30617
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6732
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24730
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17285
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4735
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2506
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1577
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: CA
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-7162864-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7162864
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7162864
    reference: chr 17
allele count: 1
allele frequency: 8.244294947896055e-6
allele num: 121296
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000349111
  ensembl transcript: ENST00000356683
  gene symbol: ELP5
  hgvsc: ENST00000356683.2:c.*757A>G
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000459835
  ensembl transcript: ENST00000574993
  gene symbol: ELP5
  hgvsc: ENST00000574993.1:c.*757A>G
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379868
  ensembl transcript: ENST00000396627
  gene symbol: ELP5
  hgvsc: ENST00000396627.2:c.837-26A>G
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379869
  ensembl transcript: ENST00000396628
  gene symbol: ELP5
  hgvsc: ENST00000396628.2:c.837-26A>G
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000460947
  ensembl transcript: ENST00000570322
  gene symbol: ELP5
  hgvsc: ENST00000570322.1:c.714-26A>G
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000262302
  ensembl protein: ENSP00000460571
  ensembl transcript: ENST00000577138
  gene symbol: RP1-4G17.5
  hgvsc: ENST00000577138.1:c.223+2276T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000346412
  ensembl transcript: ENST00000354429
  gene symbol: ELP5
  hgvsc: ENST00000354429.2:c.837-26A>G
  variant of: http://identifiers.org/hgnc/30617
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4749
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17484
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25225
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7198
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37398
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9351
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2679
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 865
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

17-7162867-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7162867
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7162867
    reference: chr 17
allele count: 1
allele frequency: 8.243615319934711e-6
allele num: 121306
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000459835
  ensembl transcript: ENST00000574993
  gene symbol: ELP5
  hgvsc: ENST00000574993.1:c.*760A>G
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000346412
  ensembl transcript: ENST00000354429
  gene symbol: ELP5
  hgvsc: ENST00000354429.2:c.837-23A>G
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379869
  ensembl transcript: ENST00000396628
  gene symbol: ELP5
  hgvsc: ENST00000396628.2:c.837-23A>G
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000349111
  ensembl transcript: ENST00000356683
  gene symbol: ELP5
  hgvsc: ENST00000356683.2:c.*760A>G
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000262302
  ensembl protein: ENSP00000460571
  ensembl transcript: ENST00000577138
  gene symbol: RP1-4G17.5
  hgvsc: ENST00000577138.1:c.223+2273T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379868
  ensembl transcript: ENST00000396627
  gene symbol: ELP5
  hgvsc: ENST00000396627.2:c.837-23A>G
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000460947
  ensembl transcript: ENST00000570322
  gene symbol: ELP5
  hgvsc: ENST00000570322.1:c.714-23A>G
  variant of: http://identifiers.org/hgnc/30617
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7172
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25283
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17501
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4750
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2678
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5168
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

17-7162880-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7162880
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7162880
    reference: chr 17
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000349111
  ensembl transcript: ENST00000356683
  gene symbol: ELP5
  hgvsc: ENST00000356683.2:c.*773C>T
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379869
  ensembl transcript: ENST00000396628
  gene symbol: ELP5
  hgvsc: ENST00000396628.2:c.837-10C>T
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000460947
  ensembl transcript: ENST00000570322
  gene symbol: ELP5
  hgvsc: ENST00000570322.1:c.714-10C>T
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000262302
  ensembl protein: ENSP00000460571
  ensembl transcript: ENST00000577138
  gene symbol: RP1-4G17.5
  hgvsc: ENST00000577138.1:c.223+2260G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000459835
  ensembl transcript: ENST00000574993
  gene symbol: ELP5
  hgvsc: ENST00000574993.1:c.*773C>T
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000346412
  ensembl transcript: ENST00000354429
  gene symbol: ELP5
  hgvsc: ENST00000354429.2:c.837-10C>T
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379868
  ensembl transcript: ENST00000396627
  gene symbol: ELP5
  hgvsc: ENST00000396627.2:c.837-10C>T
  variant of: http://identifiers.org/hgnc/30617
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17536
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7152
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4755
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25391
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2561
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37612
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2674
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

17-7162881-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7162881
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7162881
    reference: chr 17
allele count: 1
allele frequency: 8.240626287597857e-6
allele num: 121350
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000459835
  ensembl transcript: ENST00000574993
  gene symbol: ELP5
  hgvsc: ENST00000574993.1:c.*774C>G
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379869
  ensembl transcript: ENST00000396628
  gene symbol: ELP5
  hgvsc: ENST00000396628.2:c.837-9C>G
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000460947
  ensembl transcript: ENST00000570322
  gene symbol: ELP5
  hgvsc: ENST00000570322.1:c.714-9C>G
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379868
  ensembl transcript: ENST00000396627
  gene symbol: ELP5
  hgvsc: ENST00000396627.2:c.837-9C>G
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000349111
  ensembl transcript: ENST00000356683
  gene symbol: ELP5
  hgvsc: ENST00000356683.2:c.*774C>G
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000346412
  ensembl transcript: ENST00000354429
  gene symbol: ELP5
  hgvsc: ENST00000354429.2:c.837-9C>G
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000262302
  ensembl protein: ENSP00000460571
  ensembl transcript: ENST00000577138
  gene symbol: RP1-4G17.5
  hgvsc: ENST00000577138.1:c.223+2259G>C
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17538
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7143
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25396
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4756
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9379
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2560
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37604
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2675
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

17-7162886-TCAGA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7162886
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7162882
    reference: chr 17
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379868
  ensembl transcript: ENST00000396627
  gene symbol: ELP5
  hgvsc: ENST00000396627.2:c.837_840delACAG
  hgvsp: ENSP00000379868.2:p.Lys279AsnfsTer46
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000459835
  ensembl transcript: ENST00000574993
  gene symbol: ELP5
  hgvsc: ENST00000574993.1:c.*783_*786delACAG
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000346412
  ensembl transcript: ENST00000354429
  gene symbol: ELP5
  hgvsc: ENST00000354429.2:c.837_840delACAG
  hgvsp: ENSP00000346412.2:p.Lys279AsnfsTer46
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000349111
  ensembl transcript: ENST00000356683
  gene symbol: ELP5
  hgvsc: ENST00000356683.2:c.*783_*786delACAG
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000262302
  ensembl protein: ENSP00000460571
  ensembl transcript: ENST00000577138
  gene symbol: RP1-4G17.5
  hgvsc: ENST00000577138.1:c.223+2250_223+2253delTCTG
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000460947
  ensembl transcript: ENST00000570322
  gene symbol: ELP5
  hgvsc: ENST00000570322.1:c.714_717delACAG
  hgvsp: ENSP00000460947.1:p.Thr239GlnfsTer37
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379869
  ensembl transcript: ENST00000396628
  gene symbol: ELP5
  hgvsc: ENST00000396628.2:c.837_840delACAG
  hgvsp: ENSP00000379869.2:p.Lys279AsnfsTer46
  variant of: http://identifiers.org/hgnc/30617
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4756
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17546
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7151
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25408
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2678
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2561
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9377
  bin: 6.75e1
  variant carriers: 0
hgvs: c.837_840delACAG
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: TCAGA
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

17-7162890-A-ACAG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7162890
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7162893
    reference: chr 17
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: ACAG
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: splice_region_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379868
  ensembl transcript: ENST00000396627
  gene symbol: ELP5
  hgvsc: ENST00000396627.2:c.841_843dupCAG
  hgvsp: ENSP00000379868.2:p.Gln281dup
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  consequence: splice_region_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379869
  ensembl transcript: ENST00000396628
  gene symbol: ELP5
  hgvsc: ENST00000396628.2:c.841_843dupCAG
  hgvsp: ENSP00000379869.2:p.Gln281dup
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: splice_region_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000346412
  ensembl transcript: ENST00000354429
  gene symbol: ELP5
  hgvsc: ENST00000354429.2:c.841_843dupCAG
  hgvsp: ENSP00000346412.2:p.Gln281dup
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000349111
  ensembl transcript: ENST00000356683
  gene symbol: ELP5
  hgvsc: ENST00000356683.2:c.*787_*789dupCAG
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: splice_region_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000460947
  ensembl transcript: ENST00000570322
  gene symbol: ELP5
  hgvsc: ENST00000570322.1:c.718_720dupCAG
  hgvsp: ENSP00000460947.1:p.Ala240dup
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000459835
  ensembl transcript: ENST00000574993
  gene symbol: ELP5
  hgvsc: ENST00000574993.1:c.*787_*789dupCAG
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000262302
  ensembl protein: ENSP00000460571
  ensembl transcript: ENST00000577138
  gene symbol: RP1-4G17.5
  hgvsc: ENST00000577138.1:c.223+2247_223+2249dupCTG
canonical: true
consequence: inframe insertion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7159
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17551
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25413
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4758
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1603
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2676
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5170
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gln281dup
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Finnish)
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/17-7162906-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7162906
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7162906
    reference: chr 17
allele count: 2
allele frequency: 1.647527884409444e-5
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000349111
  ensembl transcript: ENST00000356683
  gene symbol: ELP5
  hgvsc: ENST00000356683.2:c.*799C>A
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000460947
  ensembl transcript: ENST00000570322
  gene symbol: ELP5
  hgvsc: ENST00000570322.1:c.730C>A
  hgvsp: ENSP00000460947.1:p.Ala244Glu
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000346412
  ensembl transcript: ENST00000354429
  gene symbol: ELP5
  hgvsc: ENST00000354429.2:c.853C>A
  hgvsp: ENST00000354429.2:c.853C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379868
  ensembl transcript: ENST00000396627
  gene symbol: ELP5
  hgvsc: ENST00000396627.2:c.853C>A
  hgvsp: ENST00000396627.2:c.853C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379869
  ensembl transcript: ENST00000396628
  gene symbol: ELP5
  hgvsc: ENST00000396628.2:c.853C>A
  hgvsp: ENST00000396628.2:c.853C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000262302
  ensembl protein: ENSP00000460571
  ensembl transcript: ENST00000577138
  gene symbol: RP1-4G17.5
  hgvsc: ENST00000577138.1:c.223+2234G>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000459835
  ensembl transcript: ENST00000574993
  gene symbol: ELP5
  hgvsc: ENST00000574993.1:c.*799C>A
  variant of: http://identifiers.org/hgnc/30617
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7135
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17562
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25449
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4757
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5169
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37671
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2562
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala244Glu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-7162906-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7162906
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7162906
    reference: chr 17
allele count: 8
allele frequency: 6.590111537637774e-5
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000459835
  ensembl transcript: ENST00000574993
  gene symbol: ELP5
  hgvsc: ENST00000574993.1:c.*799C>T
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000460947
  ensembl transcript: ENST00000570322
  gene symbol: ELP5
  hgvsc: ENST00000570322.1:c.730C>T
  hgvsp: ENSP00000460947.1:p.Ala244Val
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000346412
  ensembl transcript: ENST00000354429
  gene symbol: ELP5
  hgvsc: ENST00000354429.2:c.853C>T
  hgvsp: ENSP00000346412.2:p.Arg285Trp
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379869
  ensembl transcript: ENST00000396628
  gene symbol: ELP5
  hgvsc: ENST00000396628.2:c.853C>T
  hgvsp: ENSP00000379869.2:p.Arg285Trp
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000262302
  ensembl protein: ENSP00000460571
  ensembl transcript: ENST00000577138
  gene symbol: RP1-4G17.5
  hgvsc: ENST00000577138.1:c.223+2234G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379868
  ensembl transcript: ENST00000396627
  gene symbol: ELP5
  hgvsc: ENST00000396627.2:c.853C>T
  hgvsp: ENSP00000379868.2:p.Arg285Trp
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000349111
  ensembl transcript: ENST00000356683
  gene symbol: ELP5
  hgvsc: ENST00000356683.2:c.*799C>T
  variant of: http://identifiers.org/hgnc/30617
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17562
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4757
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25449
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7135
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1600
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg285Trp
num of homozygotes: 0
population: Other
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ

17-7162907-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7162907
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7162907
    reference: chr 17
allele count: 4
allele frequency: 3.294947198471145e-5
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000346412
  ensembl transcript: ENST00000354429
  gene symbol: ELP5
  hgvsc: ENST00000354429.2:c.854G>A
  hgvsp: ENSP00000346412.2:p.Arg285Gln
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000459835
  ensembl transcript: ENST00000574993
  gene symbol: ELP5
  hgvsc: ENST00000574993.1:c.*800G>A
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000460947
  ensembl transcript: ENST00000570322
  gene symbol: ELP5
  hgvsc: ENST00000570322.1:c.731G>A
  hgvsp: ENST00000570322.1:c.731G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000262302
  ensembl protein: ENSP00000460571
  ensembl transcript: ENST00000577138
  gene symbol: RP1-4G17.5
  hgvsc: ENST00000577138.1:c.223+2233C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379869
  ensembl transcript: ENST00000396628
  gene symbol: ELP5
  hgvsc: ENST00000396628.2:c.854G>A
  hgvsp: ENSP00000379869.2:p.Arg285Gln
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379868
  ensembl transcript: ENST00000396627
  gene symbol: ELP5
  hgvsc: ENST00000396627.2:c.854G>A
  hgvsp: ENSP00000379868.2:p.Arg285Gln
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000349111
  ensembl transcript: ENST00000356683
  gene symbol: ELP5
  hgvsc: ENST00000356683.2:c.*800G>A
  variant of: http://identifiers.org/hgnc/30617
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4758
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25457
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7133
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17567
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg285Gln
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

17-7162908-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7162908
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7162908
    reference: chr 17
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379868
  ensembl transcript: ENST00000396627
  gene symbol: ELP5
  hgvsc: ENST00000396627.2:c.855G>A
  hgvsp: ENST00000396627.2:c.855G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000460947
  ensembl transcript: ENST00000570322
  gene symbol: ELP5
  hgvsc: ENST00000570322.1:c.732G>A
  hgvsp: ENSP00000460947.1:p.Ala245Thr
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000346412
  ensembl transcript: ENST00000354429
  gene symbol: ELP5
  hgvsc: ENST00000354429.2:c.855G>A
  hgvsp: ENST00000354429.2:c.855G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000459835
  ensembl transcript: ENST00000574993
  gene symbol: ELP5
  hgvsc: ENST00000574993.1:c.*801G>A
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000349111
  ensembl transcript: ENST00000356683
  gene symbol: ELP5
  hgvsc: ENST00000356683.2:c.*801G>A
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379869
  ensembl transcript: ENST00000396628
  gene symbol: ELP5
  hgvsc: ENST00000396628.2:c.855G>A
  hgvsp: ENST00000396628.2:c.855G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000262302
  ensembl protein: ENSP00000460571
  ensembl transcript: ENST00000577138
  gene symbol: RP1-4G17.5
  hgvsc: ENST00000577138.1:c.223+2232C>T
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7133
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25465
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17564
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4759
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9389
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1600
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2565
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2680
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala245Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
population: Latino
reference allele: G
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

17-7162909-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7162909
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7162909
    reference: chr 17
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000262302
  ensembl protein: ENSP00000460571
  ensembl transcript: ENST00000577138
  gene symbol: RP1-4G17.5
  hgvsc: ENST00000577138.1:c.223+2231G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000349111
  ensembl transcript: ENST00000356683
  gene symbol: ELP5
  hgvsc: ENST00000356683.2:c.*802C>T
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379869
  ensembl transcript: ENST00000396628
  gene symbol: ELP5
  hgvsc: ENST00000396628.2:c.856C>T
  hgvsp: ENSP00000379869.2:p.Pro286Ser
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000459835
  ensembl transcript: ENST00000574993
  gene symbol: ELP5
  hgvsc: ENST00000574993.1:c.*802C>T
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379868
  ensembl transcript: ENST00000396627
  gene symbol: ELP5
  hgvsc: ENST00000396627.2:c.856C>T
  hgvsp: ENSP00000379868.2:p.Pro286Ser
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000460947
  ensembl transcript: ENST00000570322
  gene symbol: ELP5
  hgvsc: ENST00000570322.1:c.733C>T
  hgvsp: ENSP00000460947.1:p.Ala245Val
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000346412
  ensembl transcript: ENST00000354429
  gene symbol: ELP5
  hgvsc: ENST00000354429.2:c.856C>T
  hgvsp: ENSP00000346412.2:p.Pro286Ser
  variant of: http://identifiers.org/hgnc/30617
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17564
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25467
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4759
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7136
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37708
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1600
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2679
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro286Ser
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/17-7162912-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7162912
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7162912
    reference: chr 17
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: stop_lost
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000460947
  ensembl transcript: ENST00000570322
  gene symbol: ELP5
  hgvsc: ENST00000570322.1:c.736A>C
  hgvsp: ENSP00000460947.1:p.Ter246SerextTer11
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000262302
  ensembl protein: ENSP00000460571
  ensembl transcript: ENST00000577138
  gene symbol: RP1-4G17.5
  hgvsc: ENST00000577138.1:c.223+2228T>G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379869
  ensembl transcript: ENST00000396628
  gene symbol: ELP5
  hgvsc: ENST00000396628.2:c.859A>C
  hgvsp: ENST00000396628.2:c.859A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000346412
  ensembl transcript: ENST00000354429
  gene symbol: ELP5
  hgvsc: ENST00000354429.2:c.859A>C
  hgvsp: ENST00000354429.2:c.859A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379868
  ensembl transcript: ENST00000396627
  gene symbol: ELP5
  hgvsc: ENST00000396627.2:c.859A>C
  hgvsp: ENST00000396627.2:c.859A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000349111
  ensembl transcript: ENST00000356683
  gene symbol: ELP5
  hgvsc: ENST00000356683.2:c.*805A>C
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000459835
  ensembl transcript: ENST00000574993
  gene symbol: ELP5
  hgvsc: ENST00000574993.1:c.*805A>C
  variant of: http://identifiers.org/hgnc/30617
canonical: false
consequence: stop lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25473
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4759
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7131
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17565
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37685
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1600
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2562
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9386
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2678
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ter246SerextTer11
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

17-7162917-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7162917
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7162917
    reference: chr 17
allele count: 6
allele frequency: 4.942583653228331e-5
allele num: 121394
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000346412
  ensembl transcript: ENST00000354429
  gene symbol: ELP5
  hgvsc: ENST00000354429.2:c.864A>G
  hgvsp: ENST00000354429.2:c.864A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000459835
  ensembl transcript: ENST00000574993
  gene symbol: ELP5
  hgvsc: ENST00000574993.1:c.*810A>G
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000262302
  ensembl protein: ENSP00000460571
  ensembl transcript: ENST00000577138
  gene symbol: RP1-4G17.5
  hgvsc: ENST00000577138.1:c.223+2223T>C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379869
  ensembl transcript: ENST00000396628
  gene symbol: ELP5
  hgvsc: ENST00000396628.2:c.864A>G
  hgvsp: ENST00000396628.2:c.864A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000460947
  ensembl transcript: ENST00000570322
  gene symbol: ELP5
  hgvsc: ENST00000570322.1:c.*4A>G
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379868
  ensembl transcript: ENST00000396627
  gene symbol: ELP5
  hgvsc: ENST00000396627.2:c.864A>G
  hgvsp: ENST00000396627.2:c.864A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000349111
  ensembl transcript: ENST00000356683
  gene symbol: ELP5
  hgvsc: ENST00000356683.2:c.*810A>G
  variant of: http://identifiers.org/hgnc/30617
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17564
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7127
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4759
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25487
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 37714
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2563
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5147
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro288Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

17-7162920-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7162920
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7162920
    reference: chr 17
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000262302
  ensembl protein: ENSP00000460571
  ensembl transcript: ENST00000577138
  gene symbol: RP1-4G17.5
  hgvsc: ENST00000577138.1:c.223+2220C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000459835
  ensembl transcript: ENST00000574993
  gene symbol: ELP5
  hgvsc: ENST00000574993.1:c.*813G>A
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379869
  ensembl transcript: ENST00000396628
  gene symbol: ELP5
  hgvsc: ENST00000396628.2:c.867G>A
  hgvsp: ENST00000396628.2:c.867G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000460947
  ensembl transcript: ENST00000570322
  gene symbol: ELP5
  hgvsc: ENST00000570322.1:c.*7G>A
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379868
  ensembl transcript: ENST00000396627
  gene symbol: ELP5
  hgvsc: ENST00000396627.2:c.867G>A
  hgvsp: ENST00000396627.2:c.867G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000349111
  ensembl transcript: ENST00000356683
  gene symbol: ELP5
  hgvsc: ENST00000356683.2:c.*813G>A
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000346412
  ensembl transcript: ENST00000354429
  gene symbol: ELP5
  hgvsc: ENST00000354429.2:c.867G>A
  hgvsp: ENST00000354429.2:c.867G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30617
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7122
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25497
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4760
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17563
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2679
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37715
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1599
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly289Gly
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

17-7162921-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7162921
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7162921
    reference: chr 17
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000459835
  ensembl transcript: ENST00000574993
  gene symbol: ELP5
  hgvsc: ENST00000574993.1:c.*814C>T
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000346412
  ensembl transcript: ENST00000354429
  gene symbol: ELP5
  hgvsc: ENST00000354429.2:c.868C>T
  hgvsp: ENSP00000346412.2:p.Gln290Ter
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379869
  ensembl transcript: ENST00000396628
  gene symbol: ELP5
  hgvsc: ENST00000396628.2:c.868C>T
  hgvsp: ENSP00000379869.2:p.Gln290Ter
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379868
  ensembl transcript: ENST00000396627
  gene symbol: ELP5
  hgvsc: ENST00000396627.2:c.868C>T
  hgvsp: ENSP00000379868.2:p.Gln290Ter
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000262302
  ensembl protein: ENSP00000460571
  ensembl transcript: ENST00000577138
  gene symbol: RP1-4G17.5
  hgvsc: ENST00000577138.1:c.223+2219G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000460947
  ensembl transcript: ENST00000570322
  gene symbol: ELP5
  hgvsc: ENST00000570322.1:c.*8C>T
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000349111
  ensembl transcript: ENST00000356683
  gene symbol: ELP5
  hgvsc: ENST00000356683.2:c.*814C>T
  variant of: http://identifiers.org/hgnc/30617
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7121
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4762
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25498
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17562
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2680
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2563
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9390
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 859
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gln290Ter
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/17-7162927-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7162927
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7162927
    reference: chr 17
allele count: 37
allele frequency: 3.089099652685012e-4
allele num: 119776
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000346412
  ensembl transcript: ENST00000354429
  gene symbol: ELP5
  hgvsc: ENST00000354429.2:c.874A>C
  hgvsp: ENSP00000346412.2:p.Thr292Pro
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000262302
  ensembl protein: ENSP00000460571
  ensembl transcript: ENST00000577138
  gene symbol: RP1-4G17.5
  hgvsc: ENST00000577138.1:c.223+2213T>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379868
  ensembl transcript: ENST00000396627
  gene symbol: ELP5
  hgvsc: ENST00000396627.2:c.874A>C
  hgvsp: ENSP00000379868.2:p.Thr292Pro
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000349111
  ensembl transcript: ENST00000356683
  gene symbol: ELP5
  hgvsc: ENST00000356683.2:c.*820A>C
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000459835
  ensembl transcript: ENST00000574993
  gene symbol: ELP5
  hgvsc: ENST00000574993.1:c.*820A>C
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000460947
  ensembl transcript: ENST00000570322
  gene symbol: ELP5
  hgvsc: ENST00000570322.1:c.*14A>C
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379869
  ensembl transcript: ENST00000396628
  gene symbol: ELP5
  hgvsc: ENST00000396628.2:c.874A>C
  hgvsp: ENSP00000379869.2:p.Thr292Pro
  variant of: http://identifiers.org/hgnc/30617
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7083
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25464
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17534
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4751
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 9.75e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 806
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2639
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2538
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1544
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 37648
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 3.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr292Pro
num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

17-7162931-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7162931
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7162931
    reference: chr 17
allele count: 11
allele frequency: 9.060209208467177e-5
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379869
  ensembl transcript: ENST00000396628
  gene symbol: ELP5
  hgvsc: ENST00000396628.2:c.878G>C
  hgvsp: ENSP00000379869.2:p.Ser293Thr
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000459835
  ensembl transcript: ENST00000574993
  gene symbol: ELP5
  hgvsc: ENST00000574993.1:c.*824G>C
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000349111
  ensembl transcript: ENST00000356683
  gene symbol: ELP5
  hgvsc: ENST00000356683.2:c.*824G>C
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000460947
  ensembl transcript: ENST00000570322
  gene symbol: ELP5
  hgvsc: ENST00000570322.1:c.*18G>C
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000262302
  ensembl protein: ENSP00000460571
  ensembl transcript: ENST00000577138
  gene symbol: RP1-4G17.5
  hgvsc: ENST00000577138.1:c.223+2209C>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379868
  ensembl transcript: ENST00000396627
  gene symbol: ELP5
  hgvsc: ENST00000396627.2:c.878G>C
  hgvsp: ENSP00000379868.2:p.Ser293Thr
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000346412
  ensembl transcript: ENST00000354429
  gene symbol: ELP5
  hgvsc: ENST00000354429.2:c.878G>C
  hgvsp: ENSP00000346412.2:p.Ser293Thr
  variant of: http://identifiers.org/hgnc/30617
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25985
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4833
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7139
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17934
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4247
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2615
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38350
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser293Thr
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD

http://identifiers.org/exac.variant/17-7162941-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7162941
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7162941
    reference: chr 17
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000349111
  ensembl transcript: ENST00000356683
  gene symbol: ELP5
  hgvsc: ENST00000356683.2:c.*834C>A
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000460947
  ensembl transcript: ENST00000570322
  gene symbol: ELP5
  hgvsc: ENST00000570322.1:c.*28C>A
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000346412
  ensembl transcript: ENST00000354429
  gene symbol: ELP5
  hgvsc: ENST00000354429.2:c.888C>A
  hgvsp: ENSP00000346412.2:p.Phe296Leu
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379869
  ensembl transcript: ENST00000396628
  gene symbol: ELP5
  hgvsc: ENST00000396628.2:c.888C>A
  hgvsp: ENSP00000379869.2:p.Phe296Leu
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379868
  ensembl transcript: ENST00000396627
  gene symbol: ELP5
  hgvsc: ENST00000396627.2:c.888C>A
  hgvsp: ENSP00000379868.2:p.Phe296Leu
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000459835
  ensembl transcript: ENST00000574993
  gene symbol: ELP5
  hgvsc: ENST00000574993.1:c.*834C>A
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000262302
  ensembl protein: ENSP00000460571
  ensembl transcript: ENST00000577138
  gene symbol: RP1-4G17.5
  hgvsc: ENST00000577138.1:c.223+2199G>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17936
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4834
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25993
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7143
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9567
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2757
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38368
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Phe296Leu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD

17-7162942-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7162942
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7162942
    reference: chr 17
allele count: 14
allele frequency: 1.153098540506704e-4
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000460947
  ensembl transcript: ENST00000570322
  gene symbol: ELP5
  hgvsc: ENST00000570322.1:c.*29T>C
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000459835
  ensembl transcript: ENST00000574993
  gene symbol: ELP5
  hgvsc: ENST00000574993.1:c.*835T>C
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379869
  ensembl transcript: ENST00000396628
  gene symbol: ELP5
  hgvsc: ENST00000396628.2:c.889T>C
  hgvsp: ENSP00000379869.2:p.Tyr297His
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000349111
  ensembl transcript: ENST00000356683
  gene symbol: ELP5
  hgvsc: ENST00000356683.2:c.*835T>C
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000346412
  ensembl transcript: ENST00000354429
  gene symbol: ELP5
  hgvsc: ENST00000354429.2:c.889T>C
  hgvsp: ENSP00000346412.2:p.Tyr297His
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379868
  ensembl transcript: ENST00000396627
  gene symbol: ELP5
  hgvsc: ENST00000396627.2:c.889T>C
  hgvsp: ENSP00000379868.2:p.Tyr297His
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000262302
  ensembl protein: ENSP00000460571
  ensembl transcript: ENST00000577138
  gene symbol: RP1-4G17.5
  hgvsc: ENST00000577138.1:c.223+2198A>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7135
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25992
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 17934
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4835
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4248
  bin: 9.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2614
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Tyr297His
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD

17-7162943-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7162943
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7162943
    reference: chr 17
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000459835
  ensembl transcript: ENST00000574993
  gene symbol: ELP5
  hgvsc: ENST00000574993.1:c.*836A>G
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379869
  ensembl transcript: ENST00000396628
  gene symbol: ELP5
  hgvsc: ENST00000396628.2:c.890A>G
  hgvsp: ENSP00000379869.2:p.Tyr297Cys
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000262302
  ensembl protein: ENSP00000460571
  ensembl transcript: ENST00000577138
  gene symbol: RP1-4G17.5
  hgvsc: ENST00000577138.1:c.223+2197T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000346412
  ensembl transcript: ENST00000354429
  gene symbol: ELP5
  hgvsc: ENST00000354429.2:c.890A>G
  hgvsp: ENSP00000346412.2:p.Tyr297Cys
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000349111
  ensembl transcript: ENST00000356683
  gene symbol: ELP5
  hgvsc: ENST00000356683.2:c.*836A>G
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379868
  ensembl transcript: ENST00000396627
  gene symbol: ELP5
  hgvsc: ENST00000396627.2:c.890A>G
  hgvsp: ENSP00000379868.2:p.Tyr297Cys
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000460947
  ensembl transcript: ENST00000570322
  gene symbol: ELP5
  hgvsc: ENST00000570322.1:c.*30A>G
  variant of: http://identifiers.org/hgnc/30617
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7135
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17939
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25997
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1586
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4837
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9564
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2615
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4235
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Tyr297Cys
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: A
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

17-7162947-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7162947
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7162947
    reference: chr 17
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000349111
  ensembl transcript: ENST00000356683
  gene symbol: ELP5
  hgvsc: ENST00000356683.2:c.*840G>A
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000459835
  ensembl transcript: ENST00000574993
  gene symbol: ELP5
  hgvsc: ENST00000574993.1:c.*840G>A
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379869
  ensembl transcript: ENST00000396628
  gene symbol: ELP5
  hgvsc: ENST00000396628.2:c.894G>A
  hgvsp: ENST00000396628.2:c.894G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000460947
  ensembl transcript: ENST00000570322
  gene symbol: ELP5
  hgvsc: ENST00000570322.1:c.*34G>A
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000262302
  ensembl protein: ENSP00000460571
  ensembl transcript: ENST00000577138
  gene symbol: RP1-4G17.5
  hgvsc: ENST00000577138.1:c.223+2193C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000346412
  ensembl transcript: ENST00000354429
  gene symbol: ELP5
  hgvsc: ENST00000354429.2:c.894G>A
  hgvsp: ENST00000354429.2:c.894G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379868
  ensembl transcript: ENST00000396627
  gene symbol: ELP5
  hgvsc: ENST00000396627.2:c.894G>A
  hgvsp: ENST00000396627.2:c.894G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30617
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25997
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7135
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17941
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4836
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1624
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9564
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2615
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38370
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Glu298Glu
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-7162949-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7162949
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7162949
    reference: chr 17
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379868
  ensembl transcript: ENST00000396627
  gene symbol: ELP5
  hgvsc: ENST00000396627.2:c.896C>G
  hgvsp: ENSP00000379868.2:p.Pro299Arg
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000460947
  ensembl transcript: ENST00000570322
  gene symbol: ELP5
  hgvsc: ENST00000570322.1:c.*36C>G
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379869
  ensembl transcript: ENST00000396628
  gene symbol: ELP5
  hgvsc: ENST00000396628.2:c.896C>G
  hgvsp: ENSP00000379869.2:p.Pro299Arg
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000262302
  ensembl protein: ENSP00000460571
  ensembl transcript: ENST00000577138
  gene symbol: RP1-4G17.5
  hgvsc: ENST00000577138.1:c.223+2191G>C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000349111
  ensembl transcript: ENST00000356683
  gene symbol: ELP5
  hgvsc: ENST00000356683.2:c.*842C>G
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000459835
  ensembl transcript: ENST00000574993
  gene symbol: ELP5
  hgvsc: ENST00000574993.1:c.*842C>G
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000346412
  ensembl transcript: ENST00000354429
  gene symbol: ELP5
  hgvsc: ENST00000354429.2:c.896C>G
  hgvsp: ENSP00000346412.2:p.Pro299Arg
  variant of: http://identifiers.org/hgnc/30617
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7136
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17941
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4836
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25999
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2758
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38376
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1624
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro299Arg
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

17-7162955-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7162955
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7162955
    reference: chr 17
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379868
  ensembl transcript: ENST00000396627
  gene symbol: ELP5
  hgvsc: ENST00000396627.2:c.902C>T
  hgvsp: ENSP00000379868.2:p.Ala301Val
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379869
  ensembl transcript: ENST00000396628
  gene symbol: ELP5
  hgvsc: ENST00000396628.2:c.902C>T
  hgvsp: ENSP00000379869.2:p.Ala301Val
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000262302
  ensembl protein: ENSP00000460571
  ensembl transcript: ENST00000577138
  gene symbol: RP1-4G17.5
  hgvsc: ENST00000577138.1:c.223+2185G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000460947
  ensembl transcript: ENST00000570322
  gene symbol: ELP5
  hgvsc: ENST00000570322.1:c.*42C>T
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000459835
  ensembl transcript: ENST00000574993
  gene symbol: ELP5
  hgvsc: ENST00000574993.1:c.*848C>T
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000349111
  ensembl transcript: ENST00000356683
  gene symbol: ELP5
  hgvsc: ENST00000356683.2:c.*848C>T
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000346412
  ensembl transcript: ENST00000354429
  gene symbol: ELP5
  hgvsc: ENST00000354429.2:c.902C>T
  hgvsp: ENSP00000346412.2:p.Ala301Val
  variant of: http://identifiers.org/hgnc/30617
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17939
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4836
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26001
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7135
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38373
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala301Val
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum

http://identifiers.org/exac.variant/17-7162977-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7162977
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7162977
    reference: chr 17
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379868
  ensembl transcript: ENST00000396627
  gene symbol: ELP5
  hgvsc: ENST00000396627.2:c.924A>C
  hgvsp: ENSP00000379868.2:p.Glu308Asp
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000459835
  ensembl transcript: ENST00000574993
  gene symbol: ELP5
  hgvsc: ENST00000574993.1:c.*870A>C
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379869
  ensembl transcript: ENST00000396628
  gene symbol: ELP5
  hgvsc: ENST00000396628.2:c.924A>C
  hgvsp: ENSP00000379869.2:p.Glu308Asp
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000262302
  ensembl protein: ENSP00000460571
  ensembl transcript: ENST00000577138
  gene symbol: RP1-4G17.5
  hgvsc: ENST00000577138.1:c.223+2163T>G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000349111
  ensembl transcript: ENST00000356683
  gene symbol: ELP5
  hgvsc: ENST00000356683.2:c.*870A>C
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000460947
  ensembl transcript: ENST00000570322
  gene symbol: ELP5
  hgvsc: ENST00000570322.1:c.*64A>C
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000346412
  ensembl transcript: ENST00000354429
  gene symbol: ELP5
  hgvsc: ENST00000354429.2:c.924A>C
  hgvsp: ENSP00000346412.2:p.Glu308Asp
  variant of: http://identifiers.org/hgnc/30617
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7124
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17940
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4835
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26001
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4230
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1624
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9563
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Glu308Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD

17-7162980-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7162980
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7162980
    reference: chr 17
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000349111
  ensembl transcript: ENST00000356683
  gene symbol: ELP5
  hgvsc: ENST00000356683.2:c.*873C>G
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379868
  ensembl transcript: ENST00000396627
  gene symbol: ELP5
  hgvsc: ENST00000396627.2:c.927C>G
  hgvsp: ENSP00000379868.2:p.Asp309Glu
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000459835
  ensembl transcript: ENST00000574993
  gene symbol: ELP5
  hgvsc: ENST00000574993.1:c.*873C>G
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000460947
  ensembl transcript: ENST00000570322
  gene symbol: ELP5
  hgvsc: ENST00000570322.1:c.*67C>G
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379869
  ensembl transcript: ENST00000396628
  gene symbol: ELP5
  hgvsc: ENST00000396628.2:c.927C>G
  hgvsp: ENSP00000379869.2:p.Asp309Glu
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000262302
  ensembl protein: ENSP00000460571
  ensembl transcript: ENST00000577138
  gene symbol: RP1-4G17.5
  hgvsc: ENST00000577138.1:c.223+2160G>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000346412
  ensembl transcript: ENST00000354429
  gene symbol: ELP5
  hgvsc: ENST00000354429.2:c.927C>G
  hgvsp: ENSP00000346412.2:p.Asp309Glu
  variant of: http://identifiers.org/hgnc/30617
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17946
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4834
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7116
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26000
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2758
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38358
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4229
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asp309Glu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: InbreedingCoeff

17-7162985-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7162985
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7162985
    reference: chr 17
allele count: 2
allele frequency: 1.647500741375333e-5
allele num: 121396
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000349111
  ensembl transcript: ENST00000356683
  gene symbol: ELP5
  hgvsc: ENST00000356683.2:c.*878A>G
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379869
  ensembl transcript: ENST00000396628
  gene symbol: ELP5
  hgvsc: ENST00000396628.2:c.932A>G
  hgvsp: ENSP00000379869.2:p.Asp311Gly
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000346412
  ensembl transcript: ENST00000354429
  gene symbol: ELP5
  hgvsc: ENST00000354429.2:c.932A>G
  hgvsp: ENSP00000346412.2:p.Asp311Gly
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000459835
  ensembl transcript: ENST00000574993
  gene symbol: ELP5
  hgvsc: ENST00000574993.1:c.*878A>G
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000262302
  ensembl protein: ENSP00000460571
  ensembl transcript: ENST00000577138
  gene symbol: RP1-4G17.5
  hgvsc: ENST00000577138.1:c.223+2155T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379868
  ensembl transcript: ENST00000396627
  gene symbol: ELP5
  hgvsc: ENST00000396627.2:c.932A>G
  hgvsp: ENSP00000379868.2:p.Asp311Gly
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000460947
  ensembl transcript: ENST00000570322
  gene symbol: ELP5
  hgvsc: ENST00000570322.1:c.*72A>G
  variant of: http://identifiers.org/hgnc/30617
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17943
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25998
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7119
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4834
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1625
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4227
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asp311Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

17-7162987-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7162987
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7162987
    reference: chr 17
allele count: 2
allele frequency: 1.647527884409444e-5
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000346412
  ensembl transcript: ENST00000354429
  gene symbol: ELP5
  hgvsc: ENST00000354429.2:c.934G>A
  hgvsp: ENSP00000346412.2:p.Asp312Asn
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379869
  ensembl transcript: ENST00000396628
  gene symbol: ELP5
  hgvsc: ENST00000396628.2:c.934G>A
  hgvsp: ENSP00000379869.2:p.Asp312Asn
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000460947
  ensembl transcript: ENST00000570322
  gene symbol: ELP5
  hgvsc: ENST00000570322.1:c.*74G>A
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000349111
  ensembl transcript: ENST00000356683
  gene symbol: ELP5
  hgvsc: ENST00000356683.2:c.*880G>A
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000459835
  ensembl transcript: ENST00000574993
  gene symbol: ELP5
  hgvsc: ENST00000574993.1:c.*880G>A
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000262302
  ensembl protein: ENSP00000460571
  ensembl transcript: ENST00000577138
  gene symbol: RP1-4G17.5
  hgvsc: ENST00000577138.1:c.223+2153C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379868
  ensembl transcript: ENST00000396627
  gene symbol: ELP5
  hgvsc: ENST00000396627.2:c.934G>A
  hgvsp: ENSP00000379868.2:p.Asp312Asn
  variant of: http://identifiers.org/hgnc/30617
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17941
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7112
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25999
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4833
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38350
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2612
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2757
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asp312Asn
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

17-7162989-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7162989
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7162989
    reference: chr 17
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379869
  ensembl transcript: ENST00000396628
  gene symbol: ELP5
  hgvsc: ENST00000396628.2:c.936C>T
  hgvsp: ENST00000396628.2:c.936C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000346412
  ensembl transcript: ENST00000354429
  gene symbol: ELP5
  hgvsc: ENST00000354429.2:c.936C>T
  hgvsp: ENST00000354429.2:c.936C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379868
  ensembl transcript: ENST00000396627
  gene symbol: ELP5
  hgvsc: ENST00000396627.2:c.936C>T
  hgvsp: ENST00000396627.2:c.936C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000262302
  ensembl protein: ENSP00000460571
  ensembl transcript: ENST00000577138
  gene symbol: RP1-4G17.5
  hgvsc: ENST00000577138.1:c.223+2151G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000349111
  ensembl transcript: ENST00000356683
  gene symbol: ELP5
  hgvsc: ENST00000356683.2:c.*882C>T
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000460947
  ensembl transcript: ENST00000570322
  gene symbol: ELP5
  hgvsc: ENST00000570322.1:c.*76C>T
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000459835
  ensembl transcript: ENST00000574993
  gene symbol: ELP5
  hgvsc: ENST00000574993.1:c.*882C>T
  variant of: http://identifiers.org/hgnc/30617
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7108
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26001
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1584
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4831
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17940
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2612
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9558
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2755
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asp312Asp
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-7162990-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7162990
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7162990
    reference: chr 17
allele count: 3
allele frequency: 2.47137325974133e-5
allele num: 121390
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000346412
  ensembl transcript: ENST00000354429
  gene symbol: ELP5
  hgvsc: ENST00000354429.2:c.937G>A
  hgvsp: ENSP00000346412.2:p.Asp313Asn
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000460947
  ensembl transcript: ENST00000570322
  gene symbol: ELP5
  hgvsc: ENST00000570322.1:c.*77G>A
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379868
  ensembl transcript: ENST00000396627
  gene symbol: ELP5
  hgvsc: ENST00000396627.2:c.937G>A
  hgvsp: ENSP00000379868.2:p.Asp313Asn
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000459835
  ensembl transcript: ENST00000574993
  gene symbol: ELP5
  hgvsc: ENST00000574993.1:c.*883G>A
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000349111
  ensembl transcript: ENST00000356683
  gene symbol: ELP5
  hgvsc: ENST00000356683.2:c.*883G>A
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379869
  ensembl transcript: ENST00000396628
  gene symbol: ELP5
  hgvsc: ENST00000396628.2:c.937G>A
  hgvsp: ENSP00000379869.2:p.Asp313Asn
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000262302
  ensembl protein: ENSP00000460571
  ensembl transcript: ENST00000577138
  gene symbol: RP1-4G17.5
  hgvsc: ENST00000577138.1:c.223+2150C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7110
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25998
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17940
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4832
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2612
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9556
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asp313Asn
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

17-7163001-TTGAC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7163001
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7162997
    reference: chr 17
allele count: 6
allele frequency: 4.944620253164557e-5
allele num: 121344
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379868
  ensembl transcript: ENST00000396627
  gene symbol: ELP5
  hgvsc: ENST00000396627.2:c.951_*3delACTG
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379869
  ensembl transcript: ENST00000396628
  gene symbol: ELP5
  hgvsc: ENST00000396628.2:c.951_*3delACTG
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000346412
  ensembl transcript: ENST00000354429
  gene symbol: ELP5
  hgvsc: ENST00000354429.2:c.951_*3delACTG
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000459835
  ensembl transcript: ENST00000574993
  gene symbol: ELP5
  hgvsc: ENST00000574993.1:c.*897_*900delACTG
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000349111
  ensembl transcript: ENST00000356683
  gene symbol: ELP5
  hgvsc: ENST00000356683.2:c.*897_*900delACTG
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000262302
  ensembl protein: ENSP00000460571
  ensembl transcript: ENST00000577138
  gene symbol: RP1-4G17.5
  hgvsc: ENST00000577138.1:c.223+2135_223+2138delGTCA
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000460947
  ensembl transcript: ENST00000570322
  gene symbol: ELP5
  hgvsc: ENST00000570322.1:c.*91_*94delACTG
  variant of: http://identifiers.org/hgnc/30617
canonical: true
consequence: coding sequence
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17919
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4824
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25982
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7079
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38295
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4223
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
reference allele: TTGAC
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

17-7163004-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7163004
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7163004
    reference: chr 17
allele count: 1
allele frequency: 8.24334350012365e-6
allele num: 121310
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000262302
  ensembl protein: ENSP00000460571
  ensembl transcript: ENST00000577138
  gene symbol: RP1-4G17.5
  hgvsc: ENST00000577138.1:c.223+2136T>C
annotation: Annotation
  canonical: false
  consequence: stop_lost
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000346412
  ensembl transcript: ENST00000354429
  gene symbol: ELP5
  hgvsc: ENST00000354429.2:c.951A>G
  hgvsp: ENSP00000346412.2:p.Ter317TrpextTer6
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000460947
  ensembl transcript: ENST00000570322
  gene symbol: ELP5
  hgvsc: ENST00000570322.1:c.*91A>G
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000349111
  ensembl transcript: ENST00000356683
  gene symbol: ELP5
  hgvsc: ENST00000356683.2:c.*897A>G
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: true
  consequence: stop_lost
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379869
  ensembl transcript: ENST00000396628
  gene symbol: ELP5
  hgvsc: ENST00000396628.2:c.951A>G
  hgvsp: ENSP00000379869.2:p.Ter317TrpextTer6
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: stop_lost
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379868
  ensembl transcript: ENST00000396627
  gene symbol: ELP5
  hgvsc: ENST00000396627.2:c.951A>G
  hgvsp: ENSP00000379868.2:p.Ter317TrpextTer6
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000459835
  ensembl transcript: ENST00000574993
  gene symbol: ELP5
  hgvsc: ENST00000574993.1:c.*897A>G
  variant of: http://identifiers.org/hgnc/30617
canonical: true
consequence: stop lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17905
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4822
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25959
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7064
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2605
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 842
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2740
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ter317TrpextTer6
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ

17-7163011-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7163011
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7163011
    reference: chr 17
allele count: 2
allele frequency: 1.651609493451368e-5
allele num: 121094
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000349111
  ensembl transcript: ENST00000356683
  gene symbol: ELP5
  hgvsc: ENST00000356683.2:c.*904A>G
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379869
  ensembl transcript: ENST00000396628
  gene symbol: ELP5
  hgvsc: ENST00000396628.2:c.*7A>G
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000459835
  ensembl transcript: ENST00000574993
  gene symbol: ELP5
  hgvsc: ENST00000574993.1:c.*904A>G
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000460947
  ensembl transcript: ENST00000570322
  gene symbol: ELP5
  hgvsc: ENST00000570322.1:c.*98A>G
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000346412
  ensembl transcript: ENST00000354429
  gene symbol: ELP5
  hgvsc: ENST00000354429.2:c.*7A>G
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379868
  ensembl transcript: ENST00000396627
  gene symbol: ELP5
  hgvsc: ENST00000396627.2:c.*7A>G
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000262302
  ensembl protein: ENSP00000460571
  ensembl transcript: ENST00000577138
  gene symbol: RP1-4G17.5
  hgvsc: ENST00000577138.1:c.223+2129T>C
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17674
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4770
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25806
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7013
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1585
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 833
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2684
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum

17-7163016-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7163016
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7163016
    reference: chr 17
allele count: 1
allele frequency: 8.259548037531387e-6
allele num: 121072
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000460947
  ensembl transcript: ENST00000570322
  gene symbol: ELP5
  hgvsc: ENST00000570322.1:c.*103T>C
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379869
  ensembl transcript: ENST00000396628
  gene symbol: ELP5
  hgvsc: ENST00000396628.2:c.*12T>C
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000349111
  ensembl transcript: ENST00000356683
  gene symbol: ELP5
  hgvsc: ENST00000356683.2:c.*909T>C
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000262302
  ensembl protein: ENSP00000460571
  ensembl transcript: ENST00000577138
  gene symbol: RP1-4G17.5
  hgvsc: ENST00000577138.1:c.223+2124A>G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379868
  ensembl transcript: ENST00000396627
  gene symbol: ELP5
  hgvsc: ENST00000396627.2:c.*12T>C
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000346412
  ensembl transcript: ENST00000354429
  gene symbol: ELP5
  hgvsc: ENST00000354429.2:c.*12T>C
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000459835
  ensembl transcript: ENST00000574993
  gene symbol: ELP5
  hgvsc: ENST00000574993.1:c.*909T>C
  variant of: http://identifiers.org/hgnc/30617
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25795
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4742
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7064
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17596
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2679
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38025
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9290
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 828
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

17-7163020-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7163020
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7163020
    reference: chr 17
allele count: 1
allele frequency: 8.273625337150233e-6
allele num: 120866
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000349111
  ensembl transcript: ENST00000356683
  gene symbol: ELP5
  hgvsc: ENST00000356683.2:c.*913T>A
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000459835
  ensembl transcript: ENST00000574993
  gene symbol: ELP5
  hgvsc: ENST00000574993.1:c.*913T>A
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000262302
  ensembl protein: ENSP00000460571
  ensembl transcript: ENST00000577138
  gene symbol: RP1-4G17.5
  hgvsc: ENST00000577138.1:c.223+2120A>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000346412
  ensembl transcript: ENST00000354429
  gene symbol: ELP5
  hgvsc: ENST00000354429.2:c.*16T>A
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379868
  ensembl transcript: ENST00000396627
  gene symbol: ELP5
  hgvsc: ENST00000396627.2:c.*16T>A
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000460947
  ensembl transcript: ENST00000570322
  gene symbol: ELP5
  hgvsc: ENST00000570322.1:c.*107T>A
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379869
  ensembl transcript: ENST00000396628
  gene symbol: ELP5
  hgvsc: ENST00000396628.2:c.*16T>A
  variant of: http://identifiers.org/hgnc/30617
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17432
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6997
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4716
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25540
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1563
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9179
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4193
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 858
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2652
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum

17-7163026-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7163026
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7163026
    reference: chr 17
allele count: 3
allele frequency: 2.489998506000897e-5
allele num: 120482
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000459835
  ensembl transcript: ENST00000574993
  gene symbol: ELP5
  hgvsc: ENST00000574993.1:c.*919G>T
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000460947
  ensembl transcript: ENST00000570322
  gene symbol: ELP5
  hgvsc: ENST00000570322.1:c.*113G>T
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379869
  ensembl transcript: ENST00000396628
  gene symbol: ELP5
  hgvsc: ENST00000396628.2:c.*22G>T
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000349111
  ensembl transcript: ENST00000356683
  gene symbol: ELP5
  hgvsc: ENST00000356683.2:c.*919G>T
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379868
  ensembl transcript: ENST00000396627
  gene symbol: ELP5
  hgvsc: ENST00000396627.2:c.*22G>T
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000346412
  ensembl transcript: ENST00000354429
  gene symbol: ELP5
  hgvsc: ENST00000354429.2:c.*22G>T
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000262302
  ensembl protein: ENSP00000460571
  ensembl transcript: ENST00000577138
  gene symbol: RP1-4G17.5
  hgvsc: ENST00000577138.1:c.223+2114C>A
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24768
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1536
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6828
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4650
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16973
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36330
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2591
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2430
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8916
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff

17-7163030-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7163030
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7163030
    reference: chr 17
allele count: 1
allele frequency: 8.324315325064513e-6
allele num: 120130
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000349111
  ensembl transcript: ENST00000356683
  gene symbol: ELP5
  hgvsc: ENST00000356683.2:c.*923T>C
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000459835
  ensembl transcript: ENST00000574993
  gene symbol: ELP5
  hgvsc: ENST00000574993.1:c.*923T>C
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379868
  ensembl transcript: ENST00000396627
  gene symbol: ELP5
  hgvsc: ENST00000396627.2:c.*26T>C
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000262302
  ensembl protein: ENSP00000460571
  ensembl transcript: ENST00000577138
  gene symbol: RP1-4G17.5
  hgvsc: ENST00000577138.1:c.223+2110A>G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000460947
  ensembl transcript: ENST00000570322
  gene symbol: ELP5
  hgvsc: ENST00000570322.1:c.*117T>C
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000346412
  ensembl transcript: ENST00000354429
  gene symbol: ELP5
  hgvsc: ENST00000354429.2:c.*26T>C
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379869
  ensembl transcript: ENST00000396628
  gene symbol: ELP5
  hgvsc: ENST00000396628.2:c.*26T>C
  variant of: http://identifiers.org/hgnc/30617
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6625
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23503
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16209
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1523
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3379
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4536
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8604
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2770
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2388
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ

17-7163039-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7163039
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7163039
    reference: chr 17
allele count: 8
allele frequency: 6.699943050484071e-5
allele num: 119404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379868
  ensembl transcript: ENST00000396627
  gene symbol: ELP5
  hgvsc: ENST00000396627.2:c.*35G>A
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000349111
  ensembl transcript: ENST00000356683
  gene symbol: ELP5
  hgvsc: ENST00000356683.2:c.*932G>A
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379869
  ensembl transcript: ENST00000396628
  gene symbol: ELP5
  hgvsc: ENST00000396628.2:c.*35G>A
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000346412
  ensembl transcript: ENST00000354429
  gene symbol: ELP5
  hgvsc: ENST00000354429.2:c.*35G>A
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000459835
  ensembl transcript: ENST00000574993
  gene symbol: ELP5
  hgvsc: ENST00000574993.1:c.*932G>A
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000460947
  ensembl transcript: ENST00000570322
  gene symbol: ELP5
  hgvsc: ENST00000570322.1:c.*126G>A
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000262302
  ensembl protein: ENSP00000460571
  ensembl transcript: ENST00000577138
  gene symbol: RP1-4G17.5
  hgvsc: ENST00000577138.1:c.223+2101C>T
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10991
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3069
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7020
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19664
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6852
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7688
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4186
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 2157
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25465
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5129
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD

17-7163041-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7163041
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7163041
    reference: chr 17
allele count: 1
allele frequency: 8.403502579875292e-6
allele num: 118998
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000349111
  ensembl transcript: ENST00000356683
  gene symbol: ELP5
  hgvsc: ENST00000356683.2:c.*934G>A
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379869
  ensembl transcript: ENST00000396628
  gene symbol: ELP5
  hgvsc: ENST00000396628.2:c.*37G>A
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000346412
  ensembl transcript: ENST00000354429
  gene symbol: ELP5
  hgvsc: ENST00000354429.2:c.*37G>A
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000460947
  ensembl transcript: ENST00000570322
  gene symbol: ELP5
  hgvsc: ENST00000570322.1:c.*128G>A
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000459835
  ensembl transcript: ENST00000574993
  gene symbol: ELP5
  hgvsc: ENST00000574993.1:c.*934G>A
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379868
  ensembl transcript: ENST00000396627
  gene symbol: ELP5
  hgvsc: ENST00000396627.2:c.*37G>A
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000262302
  ensembl protein: ENSP00000460571
  ensembl transcript: ENST00000577138
  gene symbol: RP1-4G17.5
  hgvsc: ENST00000577138.1:c.223+2099C>T
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2833
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8665
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7950
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18921
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7078
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9811
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3586
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2057
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 776
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2590
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4416
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1454
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5310
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1006
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff

17-7163042-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7163042
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7163042
    reference: chr 17
allele count: 1
allele frequency: 8.414108777598277e-6
allele num: 118848
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000346412
  ensembl transcript: ENST00000354429
  gene symbol: ELP5
  hgvsc: ENST00000354429.2:c.*38C>T
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379868
  ensembl transcript: ENST00000396627
  gene symbol: ELP5
  hgvsc: ENST00000396627.2:c.*38C>T
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000349111
  ensembl transcript: ENST00000356683
  gene symbol: ELP5
  hgvsc: ENST00000356683.2:c.*935C>T
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000460947
  ensembl transcript: ENST00000570322
  gene symbol: ELP5
  hgvsc: ENST00000570322.1:c.*129C>T
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000262302
  ensembl protein: ENSP00000460571
  ensembl transcript: ENST00000577138
  gene symbol: RP1-4G17.5
  hgvsc: ENST00000577138.1:c.223+2098G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000459835
  ensembl transcript: ENST00000574993
  gene symbol: ELP5
  hgvsc: ENST00000574993.1:c.*935C>T
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379869
  ensembl transcript: ENST00000396628
  gene symbol: ELP5
  hgvsc: ENST00000396628.2:c.*38C>T
  variant of: http://identifiers.org/hgnc/30617
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18292
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9687
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7039
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9375
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8026
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2802
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1436
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2679
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4171
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1360
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22740
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4684
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum

17-7163043-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7163043
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7163043
    reference: chr 17
allele count: 24
allele frequency: 2.024120772539428e-4
allele num: 118570
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000459835
  ensembl transcript: ENST00000574993
  gene symbol: ELP5
  hgvsc: ENST00000574993.1:c.*936G>A
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000460947
  ensembl transcript: ENST00000570322
  gene symbol: ELP5
  hgvsc: ENST00000570322.1:c.*130G>A
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000346412
  ensembl transcript: ENST00000354429
  gene symbol: ELP5
  hgvsc: ENST00000354429.2:c.*39G>A
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379869
  ensembl transcript: ENST00000396628
  gene symbol: ELP5
  hgvsc: ENST00000396628.2:c.*39G>A
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000379868
  ensembl transcript: ENST00000396627
  gene symbol: ELP5
  hgvsc: ENST00000396627.2:c.*39G>A
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170291
  ensembl protein: ENSP00000349111
  ensembl transcript: ENST00000356683
  gene symbol: ELP5
  hgvsc: ENST00000356683.2:c.*936G>A
  variant of: http://identifiers.org/hgnc/30617
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000262302
  ensembl protein: ENSP00000460571
  ensembl transcript: ENST00000577138
  gene symbol: RP1-4G17.5
  hgvsc: ENST00000577138.1:c.223+2097C>T
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2740
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 17514
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 8913
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10869
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8080
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7060
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5440
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21656
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1421
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4934
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff

17-7163647-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7163647
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7163647
    reference: chr 17
allele count: 1
allele frequency: 9.034729500198764e-6
allele num: 110684
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000181885
  ensembl protein: ENSP00000396638
  ensembl transcript: ENST00000397317
  gene symbol: CLDN7
  hgvsc: ENST00000397317.4:c.*46G>C
  variant of: http://identifiers.org/hgnc/2049
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000181885
  ensembl protein: ENSP00000445131
  ensembl transcript: ENST00000538261
  gene symbol: CLDN7
  hgvsc: ENST00000538261.3:c.*159G>C
  variant of: http://identifiers.org/hgnc/2049
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000181885
  ensembl protein: ENSP00000353475
  ensembl transcript: ENST00000360325
  gene symbol: CLDN7
  hgvsc: ENST00000360325.7:c.*46G>C
  variant of: http://identifiers.org/hgnc/2049
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000262302
  ensembl protein: ENSP00000460571
  ensembl transcript: ENST00000577138
  gene symbol: RP1-4G17.5
  hgvsc: ENST00000577138.1:c.223+1493G>C
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3537
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2801
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1471
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3338
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15013
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2466
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1843
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3447
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3561
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3160
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2943
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3421
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2309
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4546
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 939
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 764
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2102
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1394
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1614
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44063
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: C
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

17-7163647-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7163647
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7163647
    reference: chr 17
allele count: 1
allele frequency: 9.034729500198764e-6
allele num: 110684
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000181885
  ensembl protein: ENSP00000353475
  ensembl transcript: ENST00000360325
  gene symbol: CLDN7
  hgvsc: ENST00000360325.7:c.*46G>A
  variant of: http://identifiers.org/hgnc/2049
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000181885
  ensembl protein: ENSP00000445131
  ensembl transcript: ENST00000538261
  gene symbol: CLDN7
  hgvsc: ENST00000538261.3:c.*159G>A
  variant of: http://identifiers.org/hgnc/2049
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000181885
  ensembl protein: ENSP00000396638
  ensembl transcript: ENST00000397317
  gene symbol: CLDN7
  hgvsc: ENST00000397317.4:c.*46G>A
  variant of: http://identifiers.org/hgnc/2049
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000262302
  ensembl protein: ENSP00000460571
  ensembl transcript: ENST00000577138
  gene symbol: RP1-4G17.5
  hgvsc: ENST00000577138.1:c.223+1493G>A
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2466
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2801
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1843
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3447
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3160
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3421
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1471
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3338
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3537
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15013
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2943
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3561
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2309
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1614
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4546
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44063
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2102
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 764
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 939
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum

17-7163655-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7163655
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7163655
    reference: chr 17
allele count: 2
allele frequency: 1.804207411684047e-5
allele num: 110852
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000181885
  ensembl protein: ENSP00000396638
  ensembl transcript: ENST00000397317
  gene symbol: CLDN7
  hgvsc: ENST00000397317.4:c.*38A>T
  variant of: http://identifiers.org/hgnc/2049
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000181885
  ensembl protein: ENSP00000353475
  ensembl transcript: ENST00000360325
  gene symbol: CLDN7
  hgvsc: ENST00000360325.7:c.*38A>T
  variant of: http://identifiers.org/hgnc/2049
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000181885
  ensembl protein: ENSP00000445131
  ensembl transcript: ENST00000538261
  gene symbol: CLDN7
  hgvsc: ENST00000538261.3:c.*151A>T
  variant of: http://identifiers.org/hgnc/2049
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000262302
  ensembl protein: ENSP00000460571
  ensembl transcript: ENST00000577138
  gene symbol: RP1-4G17.5
  hgvsc: ENST00000577138.1:c.223+1485A>T
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3483
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3561
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2942
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15014
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1973
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2308
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2483
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3447
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3423
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2801
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3624
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1843
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 584
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1650
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1353
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2707
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/17-7163659-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7163659
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7163659
    reference: chr 17
allele count: 2
allele frequency: 1.801574576179581e-5
allele num: 111014
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000181885
  ensembl protein: ENSP00000396638
  ensembl transcript: ENST00000397317
  gene symbol: CLDN7
  hgvsc: ENST00000397317.4:c.*34T>G
  variant of: http://identifiers.org/hgnc/2049
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000181885
  ensembl protein: ENSP00000353475
  ensembl transcript: ENST00000360325
  gene symbol: CLDN7
  hgvsc: ENST00000360325.7:c.*34T>G
  variant of: http://identifiers.org/hgnc/2049
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000181885
  ensembl protein: ENSP00000445131
  ensembl transcript: ENST00000538261
  gene symbol: CLDN7
  hgvsc: ENST00000538261.3:c.*147T>G
  variant of: http://identifiers.org/hgnc/2049
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000262302
  ensembl protein: ENSP00000460571
  ensembl transcript: ENST00000577138
  gene symbol: RP1-4G17.5
  hgvsc: ENST00000577138.1:c.223+1481T>G
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1843
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2801
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3561
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3423
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3447
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3596
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2942
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3683
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2495
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15014
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2114
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2308
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3145
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3003
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1247
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1685
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: South Asian
reference allele: A
site quality: MQ
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff

17-7163664-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7163664
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7163664
    reference: chr 17
allele count: 1
allele frequency: 8.994908881573029e-6
allele num: 111174
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000262302
  ensembl protein: ENSP00000460571
  ensembl transcript: ENST00000577138
  gene symbol: RP1-4G17.5
  hgvsc: ENST00000577138.1:c.223+1476G>A
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000181885
  ensembl protein: ENSP00000353475
  ensembl transcript: ENST00000360325
  gene symbol: CLDN7
  hgvsc: ENST00000360325.7:c.*29G>A
  variant of: http://identifiers.org/hgnc/2049
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000181885
  ensembl protein: ENSP00000445131
  ensembl transcript: ENST00000538261
  gene symbol: CLDN7
  hgvsc: ENST00000538261.3:c.*142G>A
  variant of: http://identifiers.org/hgnc/2049
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000181885
  ensembl protein: ENSP00000396638
  ensembl transcript: ENST00000397317
  gene symbol: CLDN7
  hgvsc: ENST00000397317.4:c.*29G>A
  variant of: http://identifiers.org/hgnc/2049
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15013
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2308
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2944
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2800
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3423
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2311
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3561
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3747
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3730
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2515
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3447
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1843
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1094
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 708
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1695
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum

17-7163666-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7163666
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7163666
    reference: chr 17
allele count: 37
allele frequency: 3.325185131928967e-4
allele num: 111272
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000181885
  ensembl protein: ENSP00000445131
  ensembl transcript: ENST00000538261
  gene symbol: CLDN7
  hgvsc: ENST00000538261.3:c.*140C>G
  variant of: http://identifiers.org/hgnc/2049
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000262302
  ensembl protein: ENSP00000460571
  ensembl transcript: ENST00000577138
  gene symbol: RP1-4G17.5
  hgvsc: ENST00000577138.1:c.223+1474C>G
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000181885
  ensembl protein: ENSP00000353475
  ensembl transcript: ENST00000360325
  gene symbol: CLDN7
  hgvsc: ENST00000360325.7:c.*27C>G
  variant of: http://identifiers.org/hgnc/2049
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000181885
  ensembl protein: ENSP00000396638
  ensembl transcript: ENST00000397317
  gene symbol: CLDN7
  hgvsc: ENST00000397317.4:c.*27C>G
  variant of: http://identifiers.org/hgnc/2049
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3159
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2386
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3750
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3835
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3422
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15026
  bin: 9.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 2306
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3142
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3562
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2522
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1843
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3447
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2797
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2942
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3455
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 706
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1709
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1008
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5455
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP

17-7163673-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7163673
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7163673
    reference: chr 17
allele count: 1
allele frequency: 8.949346697691069e-6
allele num: 111740
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000181885
  ensembl protein: ENSP00000353475
  ensembl transcript: ENST00000360325
  gene symbol: CLDN7
  hgvsc: ENST00000360325.7:c.*20A>C
  variant of: http://identifiers.org/hgnc/2049
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000181885
  ensembl protein: ENSP00000396638
  ensembl transcript: ENST00000397317
  gene symbol: CLDN7
  hgvsc: ENST00000397317.4:c.*20A>C
  variant of: http://identifiers.org/hgnc/2049
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000181885
  ensembl protein: ENSP00000445131
  ensembl transcript: ENST00000538261
  gene symbol: CLDN7
  hgvsc: ENST00000538261.3:c.*133A>C
  variant of: http://identifiers.org/hgnc/2049
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000262302
  ensembl protein: ENSP00000460571
  ensembl transcript: ENST00000577138
  gene symbol: RP1-4G17.5
  hgvsc: ENST00000577138.1:c.223+1467A>C
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2944
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2309
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3160
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2545
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2626
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3446
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3428
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3945
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15016
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1844
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3563
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2795
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3808
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5705
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 746
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3763
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: African
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ

17-7163675-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7163675
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7163675
    reference: chr 17
allele count: 1
allele frequency: 8.944863859172063e-6
allele num: 111796
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000181885
  ensembl protein: ENSP00000396638
  ensembl transcript: ENST00000397317
  gene symbol: CLDN7
  hgvsc: ENST00000397317.4:c.*18C>A
  variant of: http://identifiers.org/hgnc/2049
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000181885
  ensembl protein: ENSP00000445131
  ensembl transcript: ENST00000538261
  gene symbol: CLDN7
  hgvsc: ENST00000538261.3:c.*131C>A
  variant of: http://identifiers.org/hgnc/2049
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000181885
  ensembl protein: ENSP00000353475
  ensembl transcript: ENST00000360325
  gene symbol: CLDN7
  hgvsc: ENST00000360325.7:c.*18C>A
  variant of: http://identifiers.org/hgnc/2049
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000262302
  ensembl protein: ENSP00000460571
  ensembl transcript: ENST00000577138
  gene symbol: RP1-4G17.5
  hgvsc: ENST00000577138.1:c.223+1465C>A
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15017
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2557
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2795
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1844
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3563
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3446
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3428
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2656
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3840
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3160
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3141
  bin: 6.75e1
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genotype depth: GenotypeDepth
  all individuals: 2944
  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 2309
  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: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44073
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 3756
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 7.75e1
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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
  all individuals: 574
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 186
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 297
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1755
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

17-7163676-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7163676
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7163676
    reference: chr 17
allele count: 1
allele frequency: 8.939266622566285e-6
allele num: 111866
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000181885
  ensembl protein: ENSP00000353475
  ensembl transcript: ENST00000360325
  gene symbol: CLDN7
  hgvsc: ENST00000360325.7:c.*17C>G
  variant of: http://identifiers.org/hgnc/2049
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000262302
  ensembl protein: ENSP00000460571
  ensembl transcript: ENST00000577138
  gene symbol: RP1-4G17.5
  hgvsc: ENST00000577138.1:c.223+1464C>G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000181885
  ensembl protein: ENSP00000396638
  ensembl transcript: ENST00000397317
  gene symbol: CLDN7
  hgvsc: ENST00000397317.4:c.*17C>G
  variant of: http://identifiers.org/hgnc/2049
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000181885
  ensembl protein: ENSP00000445131
  ensembl transcript: ENST00000538261
  gene symbol: CLDN7
  hgvsc: ENST00000538261.3:c.*130C>G
  variant of: http://identifiers.org/hgnc/2049
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3563
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2665
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2562
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3160
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3446
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2309
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2944
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3853
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1844
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2795
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3962
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15017
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3427
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1763
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
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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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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 465
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 500
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 668
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 258
  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 44075
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 74
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genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

17-7163676-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7163676
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7163676
    reference: chr 17
allele count: 1
allele frequency: 8.939266622566285e-6
allele num: 111866
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000181885
  ensembl protein: ENSP00000396638
  ensembl transcript: ENST00000397317
  gene symbol: CLDN7
  hgvsc: ENST00000397317.4:c.*17C>A
  variant of: http://identifiers.org/hgnc/2049
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000181885
  ensembl protein: ENSP00000353475
  ensembl transcript: ENST00000360325
  gene symbol: CLDN7
  hgvsc: ENST00000360325.7:c.*17C>A
  variant of: http://identifiers.org/hgnc/2049
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000181885
  ensembl protein: ENSP00000445131
  ensembl transcript: ENST00000538261
  gene symbol: CLDN7
  hgvsc: ENST00000538261.3:c.*130C>A
  variant of: http://identifiers.org/hgnc/2049
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000262302
  ensembl protein: ENSP00000460571
  ensembl transcript: ENST00000577138
  gene symbol: RP1-4G17.5
  hgvsc: ENST00000577138.1:c.223+1464C>A
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2309
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1844
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3853
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2665
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2944
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3563
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2562
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3962
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15017
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2795
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3427
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3160
  bin: 8.75e1
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genotype depth: GenotypeDepth
  all individuals: 282
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3446
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5758
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
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genotype quality: GenotypeQuality
  all individuals: 180
  bin: 1.25e1
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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
  all individuals: 44075
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 3760
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 668
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 500
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1763
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: MQ
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

17-7163693-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7163693
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7163693
    reference: chr 17
allele count: 1
allele frequency: 8.80467704444601e-6
allele num: 113576
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000181885
  ensembl protein: ENSP00000445131
  ensembl transcript: ENST00000538261
  gene symbol: CLDN7
  hgvsc: ENST00000538261.3:c.*113A>G
  variant of: http://identifiers.org/hgnc/2049
annotation: Annotation
  canonical: false
  consequence: stop_lost
  ensembl gene: ENSG00000181885
  ensembl protein: ENSP00000396638
  ensembl transcript: ENST00000397317
  gene symbol: CLDN7
  hgvsc: ENST00000397317.4:c.636A>G
  hgvsp: ENSP00000396638.3:p.Ter212TrpextTer18
  variant of: http://identifiers.org/hgnc/2049
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000262302
  ensembl protein: ENSP00000460571
  ensembl transcript: ENST00000577138
  gene symbol: RP1-4G17.5
  hgvsc: ENST00000577138.1:c.223+1447A>G
annotation: Annotation
  canonical: true
  consequence: stop_lost
  ensembl gene: ENSG00000181885
  ensembl protein: ENSP00000353475
  ensembl transcript: ENST00000360325
  gene symbol: CLDN7
  hgvsc: ENST00000360325.7:c.636A>G
  hgvsp: ENSP00000353475.7:p.Ter212TrpextTer18
  variant of: http://identifiers.org/hgnc/2049
canonical: true
consequence: stop lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15017
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2610
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2944
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3230
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2310
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4066
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3427
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1843
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3445
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2795
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3563
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3495
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6298
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44077
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1849
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ter212TrpextTer18
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ClippingRankSum

17-7163696-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7163696
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7163696
    reference: chr 17
allele count: 1
allele frequency: 8.773469029654325e-6
allele num: 113980
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000262302
  ensembl protein: ENSP00000460571
  ensembl transcript: ENST00000577138
  gene symbol: RP1-4G17.5
  hgvsc: ENST00000577138.1:c.223+1444G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000181885
  ensembl protein: ENSP00000445131
  ensembl transcript: ENST00000538261
  gene symbol: CLDN7
  hgvsc: ENST00000538261.3:c.*110G>A
  variant of: http://identifiers.org/hgnc/2049
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000181885
  ensembl protein: ENSP00000353475
  ensembl transcript: ENST00000360325
  gene symbol: CLDN7
  hgvsc: ENST00000360325.7:c.633G>A
  hgvsp: ENST00000360325.7:c.633G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2049
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181885
  ensembl protein: ENSP00000396638
  ensembl transcript: ENST00000397317
  gene symbol: CLDN7
  hgvsc: ENST00000397317.4:c.633G>A
  hgvsp: ENST00000397317.4:c.633G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2049
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3414
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3445
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2619
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4097
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1843
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3160
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3394
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3427
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2310
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2944
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3564
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2795
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15017
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1882
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 592
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6556
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 456
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3389
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val211Val
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: African
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

17-7163698-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7163698
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7163698
    reference: chr 17
allele count: 5
allele frequency: 4.376444226594776e-5
allele num: 114248
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000262302
  ensembl protein: ENSP00000460571
  ensembl transcript: ENST00000577138
  gene symbol: RP1-4G17.5
  hgvsc: ENST00000577138.1:c.223+1442G>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181885
  ensembl protein: ENSP00000396638
  ensembl transcript: ENST00000397317
  gene symbol: CLDN7
  hgvsc: ENST00000397317.4:c.631G>C
  hgvsp: ENSP00000396638.3:p.Val211Leu
  variant of: http://identifiers.org/hgnc/2049
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181885
  ensembl protein: ENSP00000353475
  ensembl transcript: ENST00000360325
  gene symbol: CLDN7
  hgvsc: ENST00000360325.7:c.631G>C
  hgvsp: ENSP00000353475.7:p.Val211Leu
  variant of: http://identifiers.org/hgnc/2049
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000181885
  ensembl protein: ENSP00000445131
  ensembl transcript: ENST00000538261
  gene symbol: CLDN7
  hgvsc: ENST00000538261.3:c.*108G>C
  variant of: http://identifiers.org/hgnc/2049
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2795
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3521
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1843
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3428
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2944
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2628
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4121
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15018
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3564
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3445
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3268
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2309
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3160
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 281
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44078
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 3262
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6641
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val211Leu
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

17-7163700-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7163700
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7163700
    reference: chr 17
allele count: 1
allele frequency: 8.723567590201689e-6
allele num: 114632
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181885
  ensembl protein: ENSP00000353475
  ensembl transcript: ENST00000360325
  gene symbol: CLDN7
  hgvsc: ENST00000360325.7:c.629A>G
  hgvsp: ENSP00000353475.7:p.Tyr210Cys
  variant of: http://identifiers.org/hgnc/2049
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000262302
  ensembl protein: ENSP00000460571
  ensembl transcript: ENST00000577138
  gene symbol: RP1-4G17.5
  hgvsc: ENST00000577138.1:c.223+1440A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181885
  ensembl protein: ENSP00000396638
  ensembl transcript: ENST00000397317
  gene symbol: CLDN7
  hgvsc: ENST00000397317.4:c.629A>G
  hgvsp: ENSP00000396638.3:p.Tyr210Cys
  variant of: http://identifiers.org/hgnc/2049
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000181885
  ensembl protein: ENSP00000445131
  ensembl transcript: ENST00000538261
  gene symbol: CLDN7
  hgvsc: ENST00000538261.3:c.*106A>G
  variant of: http://identifiers.org/hgnc/2049
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3160
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15018
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2944
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3172
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3445
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1842
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4138
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3563
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3663
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2309
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2631
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3427
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2796
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3142
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 486
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 790
  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 686
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 104
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genotype quality: GenotypeQuality
  all individuals: 6795
  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 198
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genotype quality: GenotypeQuality
  all individuals: 74
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 1908
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44077
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Tyr210Cys
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/17-7163702-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7163702
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7163702
    reference: chr 17
allele count: 62
allele frequency: 5.401167349072219e-4
allele num: 114790
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000262302
  ensembl protein: ENSP00000460571
  ensembl transcript: ENST00000577138
  gene symbol: RP1-4G17.5
  hgvsc: ENST00000577138.1:c.223+1438G>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181885
  ensembl protein: ENSP00000353475
  ensembl transcript: ENST00000360325
  gene symbol: CLDN7
  hgvsc: ENST00000360325.7:c.627G>T
  hgvsp: ENSP00000353475.7:p.Glu209Asp
  variant of: http://identifiers.org/hgnc/2049
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000181885
  ensembl protein: ENSP00000445131
  ensembl transcript: ENST00000538261
  gene symbol: CLDN7
  hgvsc: ENST00000538261.3:c.*104G>T
  variant of: http://identifiers.org/hgnc/2049
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181885
  ensembl protein: ENSP00000396638
  ensembl transcript: ENST00000397317
  gene symbol: CLDN7
  hgvsc: ENST00000397317.4:c.627G>T
  hgvsp: ENSP00000396638.3:p.Glu209Asp
  variant of: http://identifiers.org/hgnc/2049
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2636
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3426
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3054
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3444
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15041
  bin: 9.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2308
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2937
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1841
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2791
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3776
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3142
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4160
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3161
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3560
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1910
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3060
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6870
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 786
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 8.25e1
  variant carriers: 1
hgvs: p.Glu209Asp
num of homozygotes: 3
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

17-7163708-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7163708
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7163708
    reference: chr 17
allele count: 1
allele frequency: 8.638114817822158e-6
allele num: 115766
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181885
  ensembl protein: ENSP00000396638
  ensembl transcript: ENST00000397317
  gene symbol: CLDN7
  hgvsc: ENST00000397317.4:c.621C>G
  hgvsp: ENST00000397317.4:c.621C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2049
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000181885
  ensembl protein: ENSP00000353475
  ensembl transcript: ENST00000360325
  gene symbol: CLDN7
  hgvsc: ENST00000360325.7:c.621C>G
  hgvsp: ENST00000360325.7:c.621C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2049
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000262302
  ensembl protein: ENSP00000460571
  ensembl transcript: ENST00000577138
  gene symbol: RP1-4G17.5
  hgvsc: ENST00000577138.1:c.223+1432C>G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000181885
  ensembl protein: ENSP00000445131
  ensembl transcript: ENST00000538261
  gene symbol: CLDN7
  hgvsc: ENST00000538261.3:c.*98C>G
  variant of: http://identifiers.org/hgnc/2049
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2659
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2664
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3426
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2793
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3445
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2937
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1840
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4163
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15022
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4288
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3165
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3561
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7268
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44070
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2695
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1967
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 808
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser207Ser
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

17-7163711-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7163711
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7163711
    reference: chr 17
allele count: 1
allele frequency: 8.593723144615173e-6
allele num: 116364
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000181885
  ensembl protein: ENSP00000353475
  ensembl transcript: ENST00000360325
  gene symbol: CLDN7
  hgvsc: ENST00000360325.7:c.618T>C
  hgvsp: ENST00000360325.7:c.618T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2049
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181885
  ensembl protein: ENSP00000396638
  ensembl transcript: ENST00000397317
  gene symbol: CLDN7
  hgvsc: ENST00000397317.4:c.618T>C
  hgvsp: ENST00000397317.4:c.618T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2049
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000262302
  ensembl protein: ENSP00000460571
  ensembl transcript: ENST00000577138
  gene symbol: RP1-4G17.5
  hgvsc: ENST00000577138.1:c.223+1429T>C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000181885
  ensembl protein: ENSP00000445131
  ensembl transcript: ENST00000538261
  gene symbol: CLDN7
  hgvsc: ENST00000538261.3:c.*95T>C
  variant of: http://identifiers.org/hgnc/2049
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3445
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2674
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4331
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4544
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1840
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3425
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2400
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15022
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2793
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3561
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2937
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2311
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3165
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2450
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7696
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44069
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 822
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1987
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser206Ser
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
reference allele: A
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

17-7163713-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7163713
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7163713
    reference: chr 17
allele count: 80
allele frequency: 6.859886811867604e-4
allele num: 116620
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000181885
  ensembl protein: ENSP00000445131
  ensembl transcript: ENST00000538261
  gene symbol: CLDN7
  hgvsc: ENST00000538261.3:c.*93T>C
  variant of: http://identifiers.org/hgnc/2049
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181885
  ensembl protein: ENSP00000396638
  ensembl transcript: ENST00000397317
  gene symbol: CLDN7
  hgvsc: ENST00000397317.4:c.616T>C
  hgvsp: ENSP00000396638.3:p.Ser206Pro
  variant of: http://identifiers.org/hgnc/2049
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181885
  ensembl protein: ENSP00000353475
  ensembl transcript: ENST00000360325
  gene symbol: CLDN7
  hgvsc: ENST00000360325.7:c.616T>C
  hgvsp: ENSP00000353475.7:p.Ser206Pro
  variant of: http://identifiers.org/hgnc/2049
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000262302
  ensembl protein: ENSP00000460571
  ensembl transcript: ENST00000577138
  gene symbol: RP1-4G17.5
  hgvsc: ENST00000577138.1:c.223+1427T>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2289
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2937
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3421
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2684
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4673
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3140
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2311
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3164
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4351
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2792
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3439
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3557
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15052
  bin: 9.75e1
  variant carriers: 52
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1998
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44089
  bin: 9.75e1
  variant carriers: 80
genotype quality: GenotypeQuality
  all individuals: 2326
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7664
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser206Pro
num of homozygotes: 0
population: African
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

17-7163718-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7163718
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7163718
    reference: chr 17
allele count: 19
allele frequency: 1.618784718672256e-4
allele num: 117372
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000181885
  ensembl protein: ENSP00000445131
  ensembl transcript: ENST00000538261
  gene symbol: CLDN7
  hgvsc: ENST00000538261.3:c.*88C>A
  variant of: http://identifiers.org/hgnc/2049
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000262302
  ensembl protein: ENSP00000460571
  ensembl transcript: ENST00000577138
  gene symbol: RP1-4G17.5
  hgvsc: ENST00000577138.1:c.223+1422C>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181885
  ensembl protein: ENSP00000396638
  ensembl transcript: ENST00000397317
  gene symbol: CLDN7
  hgvsc: ENST00000397317.4:c.611C>A
  hgvsp: ENSP00000396638.3:p.Ser204Tyr
  variant of: http://identifiers.org/hgnc/2049
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181885
  ensembl protein: ENSP00000353475
  ensembl transcript: ENST00000360325
  gene symbol: CLDN7
  hgvsc: ENST00000360325.7:c.611C>A
  hgvsp: ENSP00000353475.7:p.Ser204Tyr
  variant of: http://identifiers.org/hgnc/2049
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2704
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1839
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15034
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 2796
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5158
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2940
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4435
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2308
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3138
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1939
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3558
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3172
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3440
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3423
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2051
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1984
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 741
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8328
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 841
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44081
  bin: 9.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser204Tyr
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: East Asian
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/17-7163723-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7163723
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7163723
    reference: chr 17
allele count: 4787
allele frequency: 4.046697212031041e-2
allele num: 118294
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000262302
  ensembl protein: ENSP00000460571
  ensembl transcript: ENST00000577138
  gene symbol: RP1-4G17.5
  hgvsc: ENST00000577138.1:c.223+1417T>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181885
  ensembl protein: ENSP00000396638
  ensembl transcript: ENST00000397317
  gene symbol: CLDN7
  hgvsc: ENST00000397317.4:c.606T>G
  hgvsp: ENST00000397317.4:c.606T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2049
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000181885
  ensembl protein: ENSP00000353475
  ensembl transcript: ENST00000360325
  gene symbol: CLDN7
  hgvsc: ENST00000360325.7:c.606T>G
  hgvsp: ENST00000360325.7:c.606T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2049
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000181885
  ensembl protein: ENSP00000445131
  ensembl transcript: ENST00000538261
  gene symbol: CLDN7
  hgvsc: ENST00000538261.3:c.*83T>G
  variant of: http://identifiers.org/hgnc/2049
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 3.75e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 4.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 2777
  bin: 3.25e1
  variant carriers: 72
genotype depth: GenotypeDepth
  all individuals: 5366
  bin: 2.25e1
  variant carriers: 77
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2583
  bin: 6.25e1
  variant carriers: 64
genotype depth: GenotypeDepth
  all individuals: 4561
  bin: 2.75e1
  variant carriers: 96
genotype depth: GenotypeDepth
  all individuals: 2977
  bin: 9.25e1
  variant carriers: 280
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 1.25e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 3112
  bin: 8.75e1
  variant carriers: 230
genotype depth: GenotypeDepth
  all individuals: 3176
  bin: 7.25e1
  variant carriers: 120
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 1.75e1
  variant carriers: 83
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3366
  bin: 7.75e1
  variant carriers: 173
genotype depth: GenotypeDepth
  all individuals: 3272
  bin: 8.25e1
  variant carriers: 207
genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 5.25e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 2913
  bin: 6.75e1
  variant carriers: 86
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 4.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 2173
  bin: 5.75e1
  variant carriers: 57
genotype depth: GenotypeDepth
  all individuals: 16577
  bin: 9.75e1
  variant carriers: 2699
genotype quality: GenotypeQuality
  all individuals: 8420
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1531
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2079
  bin: 6.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 8.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 7.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 44547
  bin: 9.75e1
  variant carriers: 4387
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 9.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 5.25e1
  variant carriers: 1
hgvs: p.Pro202Pro
num of homozygotes: 362
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
reference allele: A
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

17-7163723-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7163723
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7163723
    reference: chr 17
allele count: 1
allele frequency: 8.453514125822104e-6
allele num: 118294
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181885
  ensembl protein: ENSP00000396638
  ensembl transcript: ENST00000397317
  gene symbol: CLDN7
  hgvsc: ENST00000397317.4:c.606T>C
  hgvsp: ENST00000397317.4:c.606T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2049
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000181885
  ensembl protein: ENSP00000353475
  ensembl transcript: ENST00000360325
  gene symbol: CLDN7
  hgvsc: ENST00000360325.7:c.606T>C
  hgvsp: ENST00000360325.7:c.606T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2049
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000181885
  ensembl protein: ENSP00000445131
  ensembl transcript: ENST00000538261
  gene symbol: CLDN7
  hgvsc: ENST00000538261.3:c.*83T>C
  variant of: http://identifiers.org/hgnc/2049
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000262302
  ensembl protein: ENSP00000460571
  ensembl transcript: ENST00000577138
  gene symbol: RP1-4G17.5
  hgvsc: ENST00000577138.1:c.223+1417T>C
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5366
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2913
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2173
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2777
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3272
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4561
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2977
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16577
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2583
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3366
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44547
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 853
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8420
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2079
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro202Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-7163725-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7163725
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 7163725
    reference: chr 17
allele count: 1
allele frequency: 8.439103429651633e-6
allele num: 118496
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000262302
  ensembl protein: ENSP00000460571
  ensembl transcript: ENST00000577138
  gene symbol: RP1-4G17.5
  hgvsc: ENST00000577138.1:c.223+1415C>T
canonical: true
consequence: missense
filter: PASS
hgvs: p.Pro202Ser
num of homozygotes: 0
reference allele: G

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

GenotypeQuality
all individuals: 36189
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9221
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1247
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2431
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 992
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3811
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66732
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.31107002542177e-4
allele num: 8654
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 6.889999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.56e-1

DP
type: SiteQuality
SIO_000300: 1.773422e6

MQRankSum
type: SiteQuality
SIO_000300: 5.610000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.062e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.437e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.17e0

GenotypeQuality
all individuals: 1247
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 32
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36178
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3809
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2429
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9222
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3129
bin: 7.25e1
variant carriers: 0

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

African
type: Population
allele count: 11
allele frequency: 1.057692307692308e-3
allele num: 10400
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66732
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.557e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.592e0

VQSLOD
type: SiteQuality
SIO_000300: 1.88e0

MQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.15e-1

DP
type: SiteQuality
SIO_000300: 1.773603e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.946e1

QD
type: SiteQuality
SIO_000300: 1.318e1

GenotypeQuality
all individuals: 338
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34947
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8815
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 969
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3726
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2391
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1234
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3599
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 114
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 4.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.214034235765449e-4
allele num: 16474
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66420
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.12e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.116e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.79e0

FS
type: SiteQuality
SIO_000300: 1.39e0

DP
type: SiteQuality
SIO_000300: 1.743715e6

VQSLOD
type: SiteQuality
SIO_000300: 4.41e-1

QD
type: SiteQuality
SIO_000300: 1.173e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1232
bin: 9.25e1
variant carriers: 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: 10368
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11508
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16470
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66388
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.163873370577281e-4
allele num: 8592
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.16e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.79e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 6.77e-1

QD
type: SiteQuality
SIO_000300: 1.498e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.723e0

DP
type: SiteQuality
SIO_000300: 1.738474e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11470
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16426
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66122
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.899671370578001e-4
allele num: 10346
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.485e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.9e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.94e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.35e-1

DP
type: SiteQuality
SIO_000300: 1.698315e6

MQRankSum
type: SiteQuality
SIO_000300: 2.41e-1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
all individuals: 3579
bin: 9.75e1
variant carriers: 2

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8496
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.933488012374323e-4
allele num: 10344
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66064
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16424
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.239e1

MQ
type: SiteQuality
SIO_000300: 5.87e1

FS
type: SiteQuality
SIO_000300: 2.267e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.63e0

DP
type: SiteQuality
SIO_000300: 1.679648e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.02e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.33e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.72e-1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 319
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variant carriers: 0

GenotypeQuality
all individuals: 384
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.738203425375742e-5
allele num: 11444
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8490
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.545316808581558e-5
allele num: 66002
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10336
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16414
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.28e-1

QD
type: SiteQuality
SIO_000300: 1.089e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.27e0

FS
type: SiteQuality
SIO_000300: 7.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -6.56e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.14e0

MQRankSum
type: SiteQuality
SIO_000300: 8.1e-2

MQ
type: SiteQuality
SIO_000300: 5.983e1

DP
type: SiteQuality
SIO_000300: 1.669834e6

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.516990291262136e-4
allele num: 6592
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16408
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10334
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.819615454600594e-4
allele num: 65948
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.4e-2

FS
type: SiteQuality
SIO_000300: 8.36e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.21e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.936e0

MQRankSum
type: SiteQuality
SIO_000300: -7.099999999999999e-2

DP
type: SiteQuality
SIO_000300: 1.654477e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

QD
type: SiteQuality
SIO_000300: 1.323e1

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
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: 906
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16366
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501997656883655e-5
allele num: 66578
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.18e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.17e0

QD
type: SiteQuality
SIO_000300: 1.822e1

VQSLOD
type: SiteQuality
SIO_000300: -8.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.55e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

DP
type: SiteQuality
SIO_000300: 1.924979e6

GenotypeQuality
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bin: 2.75e1
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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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16406
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66596
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: 906
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 7.67e-1

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

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

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.501501501501501e-5
allele num: 66600
num of homozygotes: 0

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

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

European (Finnish)
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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: 8652
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.615384615384615e-5
allele num: 10400
num of homozygotes: 0

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

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 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
allele num: 6614
num of homozygotes: 0

African
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allele frequency: 9.615384615384615e-5
allele num: 10400
num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66660
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 frequency: 0.0e0
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ReadPosRankSum
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BaseQRankSum
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MQ
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InbreedingCoeff
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QD
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FS
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ClippingRankSum
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VQSLOD
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MQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 66690
num of homozygotes: 0

African
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allele frequency: 9.615384615384615e-5
allele num: 10400
num of homozygotes: 0

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

South Asian
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allele 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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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QD
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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FS
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VQSLOD
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BaseQRankSum
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DP
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InbreedingCoeff
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MQ
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SIO_000300: 5.963e1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

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

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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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.499520153550864e-5
allele num: 66688
num of homozygotes: 0

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

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

QD
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MQRankSum
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ClippingRankSum
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SIO_000300: -1.277e0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66700
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.715e1

ReadPosRankSum
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QD
type: SiteQuality
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InbreedingCoeff
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FS
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MQRankSum
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VQSLOD
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.944327e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.763e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66706
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

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

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

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.997332374186974e-5
allele num: 66726
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 frequency: 0.0e0
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African
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
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QD
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MQRankSum
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DP
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InbreedingCoeff
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FS
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MQ
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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African
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South Asian
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European (Non-Finnish)
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East Asian
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European (Finnish)
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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QD
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DP
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VQSLOD
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FS
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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African
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East Asian
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South Asian
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Latino
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European (Finnish)
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European (Non-Finnish)
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FS
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VQSLOD
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QD
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ReadPosRankSum
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MQ
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Finnish)
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African
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Other
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South Asian
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Latino
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QD
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FS
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MQ
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ReadPosRankSum
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MQRankSum
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DP
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.498576352465158e-5
allele num: 66730
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East Asian
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Other
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InbreedingCoeff
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FS
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MQ
type: SiteQuality
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VQSLOD
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DP
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ReadPosRankSum
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MQRankSum
type: SiteQuality
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QD
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BaseQRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

Other
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

QD
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MQRankSum
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FS
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BaseQRankSum
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DP
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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MQ
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SIO_000300: 5.83e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 66734
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Other
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allele frequency: 1.106194690265487e-3
allele num: 904
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European (Finnish)
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allele frequency: 7.566585956416465e-4
allele num: 6608
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African
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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East Asian
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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FS
type: SiteQuality
SIO_000300: 1.66412e2

ReadPosRankSum
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DP
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MQ
type: SiteQuality
SIO_000300: 5.824e1

VQSLOD
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QD
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 num: 16512
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East Asian
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African
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Other
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allele num: 908
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66738
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European (Finnish)
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MQRankSum
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VQSLOD
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ReadPosRankSum
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QD
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DP
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MQ
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SIO_000300: 5.974e1

FS
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ClippingRankSum
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SIO_000300: -1.753e0

BaseQRankSum
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InbreedingCoeff
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 0
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allele num: 16512
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10404
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Latino
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allele count: 0
allele frequency: 0.0e0
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East Asian
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Other
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allele count: 0
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MQRankSum
type: SiteQuality
SIO_000300: -1.142e0

FS
type: SiteQuality
SIO_000300: 2.081e0

QD
type: SiteQuality
SIO_000300: 9.23e0

BaseQRankSum
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SIO_000300: -4.555e0

MQ
type: SiteQuality
SIO_000300: 5.923e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.945648e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.62e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.577e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.01e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 4
allele frequency: 3.923107100823852e-4
allele num: 10196
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 2
allele frequency: 2.262443438914027e-3
allele num: 884
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South Asian
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allele frequency: 6.06060606060606e-5
allele num: 16500
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8612
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European (Finnish)
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allele count: 12
allele frequency: 1.951854261548471e-3
allele num: 6148
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 18
allele frequency: 2.731411229135053e-4
allele num: 65900
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.93534e2

MQRankSum
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.7e-3

ClippingRankSum
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MQ
type: SiteQuality
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VQSLOD
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele num: 10406
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European (Finnish)
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allele count: 0
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allele num: 6614
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Latino
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allele frequency: 8.637070305752289e-5
allele num: 11578
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South Asian
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.19871737241152e-4
allele num: 66738
num of homozygotes: 0

East Asian
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ReadPosRankSum
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MQ
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BaseQRankSum
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FS
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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DP
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QD
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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European (Non-Finnish)
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allele num: 66740
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African
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Latino
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South Asian
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Other
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ReadPosRankSum
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MQRankSum
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VQSLOD
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BaseQRankSum
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MQ
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FS
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InbreedingCoeff
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DP
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ClippingRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Finnish)
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East Asian
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South Asian
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allele frequency: 8.478682170542636e-4
allele num: 16512
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European (Non-Finnish)
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Other
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African
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ReadPosRankSum
type: SiteQuality
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FS
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MQ
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QD
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InbreedingCoeff
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MQRankSum
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DP
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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European (Non-Finnish)
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African
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allele num: 10406
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Latino
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Other
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FS
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QD
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VQSLOD
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.65e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.29e-1

DP
type: SiteQuality
SIO_000300: 1.897866e6

MQRankSum
type: SiteQuality
SIO_000300: 4.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

African
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allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

Latino
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allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

InbreedingCoeff
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VQSLOD
type: SiteQuality
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MQ
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FS
type: SiteQuality
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DP
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SIO_000300: 1.897889e6

MQRankSum
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BaseQRankSum
type: SiteQuality
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QD
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SIO_000300: 1.253e1

ReadPosRankSum
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SIO_000300: 2.34e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.231e0

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

Latino
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allele frequency: 8.637070305752289e-5
allele num: 11578
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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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
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allele frequency: 0.0e0
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South Asian
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VQSLOD
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MQ
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InbreedingCoeff
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DP
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ClippingRankSum
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SIO_000300: 1.26e-1

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 8.28e-1

ReadPosRankSum
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SIO_000300: 3.5e-1

BaseQRankSum
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QD
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66738
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East Asian
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allele frequency: 1.155535012710885e-4
allele num: 8654
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.879e1

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
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VQSLOD
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SIO_000300: -9.157e-1

FS
type: SiteQuality
SIO_000300: 3.605e0

ReadPosRankSum
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SIO_000300: 2.78e-1

QD
type: SiteQuality
SIO_000300: 1.113e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.802e0

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

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

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

African
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allele frequency: 0.0e0
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Latino
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allele num: 11576
num of homozygotes: 0

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

Other
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allele num: 908
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.109e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.44e-1

MQRankSum
type: SiteQuality
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DP
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ClippingRankSum
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SIO_000300: -8.5e-1

InbreedingCoeff
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QD
type: SiteQuality
SIO_000300: 9.92e0

BaseQRankSum
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SIO_000300: -2.402e0

VQSLOD
type: SiteQuality
SIO_000300: 5.48e-1

GenotypeQuality
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variant carriers: 0

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

Latino
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allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66732
num of homozygotes: 0

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

East Asian
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allele count: 2
allele frequency: 2.311604253351826e-4
allele num: 8652
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
allele num: 10406
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

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

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

African
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allele num: 10406
num of homozygotes: 0

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

Latino
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num of homozygotes: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66728
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Latino
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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East Asian
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South Asian
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InbreedingCoeff
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QD
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BaseQRankSum
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MQRankSum
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DP
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FS
type: SiteQuality
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VQSLOD
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MQ
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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Latino
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African
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East Asian
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European (Non-Finnish)
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allele num: 66726
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Other
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DP
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InbreedingCoeff
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MQ
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VQSLOD
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FS
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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QD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 8.995232526760817e-5
allele num: 66702
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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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South Asian
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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

VQSLOD
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DP
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ClippingRankSum
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BaseQRankSum
type: SiteQuality
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MQRankSum
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FS
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MQ
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InbreedingCoeff
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QD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

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

Latino
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allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.499790029395885e-5
allele num: 66676
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 1.926040061633282e-4
allele num: 10384
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East Asian
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allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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FS
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MQRankSum
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DP
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InbreedingCoeff
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QD
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MQ
type: SiteQuality
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
allele num: 902
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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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: 1.50271992306074e-5
allele num: 66546
num of homozygotes: 0

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

European (Finnish)
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allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

MQ
type: SiteQuality
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ReadPosRankSum
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DP
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FS
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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QD
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.601e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 0.0e0
allele num: 10372
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

South Asian
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allele frequency: 6.075334143377886e-5
allele num: 16460
num of homozygotes: 0

Other
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allele num: 900
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66428
num of homozygotes: 0

VQSLOD
type: SiteQuality
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DP
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
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MQ
type: SiteQuality
SIO_000300: 5.961e1

FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -3.3e-1

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

East Asian
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allele frequency: 3.52112676056338e-4
allele num: 8520
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66228
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 16432
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 900
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10328
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Latino
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allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

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

African
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allele frequency: 9.710623422023694e-5
allele num: 10298
num of homozygotes: 0

Latino
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East Asian
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allele frequency: 0.0e0
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Other
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66030
num of homozygotes: 0

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

European (Finnish)
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European (Non-Finnish)
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Latino
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Other
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East Asian
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African
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South Asian
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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QD
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FS
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ReadPosRankSum
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DP
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MQ
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VQSLOD
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Other
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African
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European (Finnish)
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Latino
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European (Non-Finnish)
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East Asian
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MQRankSum
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VQSLOD
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FS
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QD
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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MQ
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DP
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 24

GenotypeQuality
all individuals: 761
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6542
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 18
allele frequency: 2.761752792438934e-4
allele num: 65176
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.22684333210649e-4
allele num: 16302
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11258
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.870920603994155e-4
allele num: 8212
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10188
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.89e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.83e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.2e-2

QD
type: SiteQuality
SIO_000300: 1.409e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.21e-1

DP
type: SiteQuality
SIO_000300: 1.573522e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

GenotypeQuality
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variant carriers: 0

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: 9768
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.575845441079139e-5
allele num: 63458
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 794
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11470
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10060
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 7.52e-1

DP
type: SiteQuality
SIO_000300: 4.20059e6

MQRankSum
type: SiteQuality
SIO_000300: 9.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.03e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.84e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.9e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

MQ
type: SiteQuality
SIO_000300: 5.903e1

QD
type: SiteQuality
SIO_000300: 1.425e1

GenotypeQuality
all individuals: 1394
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.575845441079139e-5
allele num: 63458
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 794
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9768
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10060
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11470
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.03e-1

DP
type: SiteQuality
SIO_000300: 4.20059e6

VQSLOD
type: SiteQuality
SIO_000300: 2.84e-1

FS
type: SiteQuality
SIO_000300: 7.52e-1

QD
type: SiteQuality
SIO_000300: 1.425e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.9e-1

MQ
type: SiteQuality
SIO_000300: 5.903e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 9.1e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.1e-2

GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9882
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11478
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: 8526
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.150102378327295e-5
allele num: 63490
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 796
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10066
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ClippingRankSum
type: SiteQuality
SIO_000300: 5.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.71e-1

MQ
type: SiteQuality
SIO_000300: 5.947e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.347e0

VQSLOD
type: SiteQuality
SIO_000300: 6.29e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 9.419999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.338e1

DP
type: SiteQuality
SIO_000300: 4.205647e6

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8534
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.146831141040972e-5
allele num: 63556
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9960
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.938e1

QD
type: SiteQuality
SIO_000300: 1.594e1

DP
type: SiteQuality
SIO_000300: 4.209096e6

VQSLOD
type: SiteQuality
SIO_000300: -2.062e0

MQRankSum
type: SiteQuality
SIO_000300: 1.48e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.36e0

FS
type: SiteQuality
SIO_000300: 1.5064e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.68e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 44067
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GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 798
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: 11478
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 9.94431185361973e-5
allele num: 10056
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63598
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8542
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VQSLOD
type: SiteQuality
SIO_000300: 8.93e-1

DP
type: SiteQuality
SIO_000300: 4.213564e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.53e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

QD
type: SiteQuality
SIO_000300: 1.017e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.76e-1

FS
type: SiteQuality
SIO_000300: 1.797e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.2e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 44073
bin: 9.75e1
variant carriers: 37

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10118
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 5
allele frequency: 7.559721802237678e-4
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.286342920006286e-5
allele num: 63630
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.742160278745645e-4
allele num: 11480
num of homozygotes: 0

African
type: Population
allele count: 26
allele frequency: 2.577319587628866e-3
allele num: 10088
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8540
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 802
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.12e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.91e-1

MQ
type: SiteQuality
SIO_000300: 5.943e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.84e-1

FS
type: SiteQuality
SIO_000300: 5.590000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.358e1

DP
type: SiteQuality
SIO_000300: 4.216367e6

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63766
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
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: 806
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8558
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Latino
type: Population
allele count: 1
allele frequency: 8.707767328456984e-5
allele num: 11484
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10118
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InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 5.590000000000001e-1

FS
type: SiteQuality
SIO_000300: 2.497e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.68e-1

DP
type: SiteQuality
SIO_000300: 4.222251e6

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.007e0

QD
type: SiteQuality
SIO_000300: 1.176e1

MQ
type: SiteQuality
SIO_000300: 5.931e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63784
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.595087315294569e-5
allele num: 10422
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European (Finnish)
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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: 10122
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Latino
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allele num: 11484
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East Asian
type: Population
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Other
type: Population
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allele num: 810
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.93e-1

MQ
type: SiteQuality
SIO_000300: 5.938e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.012e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.785e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.81e-1

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: 63810
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East Asian
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African
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Latino
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allele frequency: 8.707767328456984e-5
allele num: 11484
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South Asian
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Other
type: Population
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allele frequency: 0.0e0
allele num: 810
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 2.44e-1

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.79e-1

BaseQRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
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East Asian
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Latino
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allele frequency: 0.0e0
allele num: 11484
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European (Non-Finnish)
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allele frequency: 1.567152483936687e-5
allele num: 63810
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African
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num of homozygotes: 0

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

South Asian
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Other
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MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 3.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

MQRankSum
type: SiteQuality
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ReadPosRankSum
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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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allele frequency: 0.0e0
allele num: 6614
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Other
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Latino
type: Population
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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East Asian
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allele num: 8584
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 4.94e-1

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
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.551109042965721e-5
allele num: 64470
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Other
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South Asian
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European (Finnish)
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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: 10212
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.67e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.211e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

DP
type: SiteQuality
SIO_000300: 4.244535e6

QD
type: SiteQuality
SIO_000300: 8.289999999999999e0

FS
type: SiteQuality
SIO_000300: 6.291e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.176e0

MQ
type: SiteQuality
SIO_000300: 5.928e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.98e-1

GenotypeQuality
all individuals: 1887
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 470
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11938
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 828
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.746173390345169e-5
allele num: 64548
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10224
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: -7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.069e0

VQSLOD
type: SiteQuality
SIO_000300: -4.584e-1

DP
type: SiteQuality
SIO_000300: 4.247297e6

FS
type: SiteQuality
SIO_000300: 5.44e-1

MQ
type: SiteQuality
SIO_000300: 5.894e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.34e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.15e-1

QD
type: SiteQuality
SIO_000300: 9.01e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.93e-1

GenotypeQuality
all individuals: 285
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12206
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10232
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.546933976857868e-5
allele num: 64644
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
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: 4.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 9.2e-3

MQ
type: SiteQuality
SIO_000300: 5.84e1

FS
type: SiteQuality
SIO_000300: 1.634e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.61e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.36e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.2e-1

QD
type: SiteQuality
SIO_000300: 1.678e1

DP
type: SiteQuality
SIO_000300: 4.249387e6

GenotypeQuality
all individuals: 44091
bin: 9.75e1
variant carriers: 58

GenotypeQuality
all individuals: 186
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 473
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.738828029907842e-4
allele num: 11502
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10238
num of homozygotes: 0

South Asian
type: Population
allele count: 39
allele frequency: 3.171247357293869e-3
allele num: 12298
num of homozygotes: 3

European (Non-Finnish)
type: Population
allele count: 20
allele frequency: 3.091381229133177e-4
allele num: 64696
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.193317422434368e-3
allele num: 838
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 4.254084e6

VQSLOD
type: SiteQuality
SIO_000300: 4.04e0

QD
type: SiteQuality
SIO_000300: 1.278e1

FS
type: SiteQuality
SIO_000300: 1.092e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.978e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.35e-2

MQ
type: SiteQuality
SIO_000300: 5.949e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.66e-1

GenotypeQuality
all individuals: 313
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 447
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 5.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10266
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.683570684265369e-5
allele num: 11516
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12978
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64938
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.405e0

FS
type: SiteQuality
SIO_000300: 1.103e0

MQRankSum
type: SiteQuality
SIO_000300: -3.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 4.3e-1

MQ
type: SiteQuality
SIO_000300: 5.914e1

QD
type: SiteQuality
SIO_000300: 2.513e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.966e0

DP
type: SiteQuality
SIO_000300: 4.260273e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.37e-1

GenotypeQuality
all individuals: 627
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 720
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 3.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.535909565644775e-5
allele num: 65108
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
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: 13378
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.265889e6

FS
type: SiteQuality
SIO_000300: 4.146e0

MQRankSum
type: SiteQuality
SIO_000300: 2.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.444e0

MQ
type: SiteQuality
SIO_000300: 5.867e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.54e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.5e-2

QD
type: SiteQuality
SIO_000300: 1.102e1

GenotypeQuality
all individuals: 98
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 726
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 828
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 74
allele frequency: 7.194244604316547e-3
allele num: 10286
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 5.205622071837585e-4
allele num: 11526
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
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: 13544
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65182
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.35e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.34e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.26e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.0e-2

MQ
type: SiteQuality
SIO_000300: 5.94e1

QD
type: SiteQuality
SIO_000300: 1.317e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.48e-1

DP
type: SiteQuality
SIO_000300: 4.271291e6

BaseQRankSum
type: SiteQuality
SIO_000300: 9.84e-1

GenotypeQuality
all individuals: 345
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 5.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14068
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.118266083391966e-5
allele num: 65378
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10296
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.165501165501166e-3
allele num: 858
num of homozygotes: 0

Latino
type: Population
allele count: 14
allele frequency: 1.213592233009709e-3
allele num: 11536
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.963e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.6e-2

QD
type: SiteQuality
SIO_000300: 1.133e1

DP
type: SiteQuality
SIO_000300: 4.277603e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.455e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.93e-1

FS
type: SiteQuality
SIO_000300: 1.903e0

VQSLOD
type: SiteQuality
SIO_000300: 2.04e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.2e-1

GenotypeQuality
all individuals: 212
bin: 2.75e1
variant carriers: 2

GenotypeQuality
all individuals: 158
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 853
bin: 7.75e1
variant carriers: 6

European (Non-Finnish)
type: Population
allele count: 829
allele frequency: 1.262064975793929e-2
allele num: 65686
num of homozygotes: 7

African
type: Population
allele count: 220
allele frequency: 2.131369889556288e-2
allele num: 10322
num of homozygotes: 4

Other
type: Population
allele count: 38
allele frequency: 4.377880184331797e-2
allele num: 868
num of homozygotes: 1

South Asian
type: Population
allele count: 403
allele frequency: 2.754990429313645e-2
allele num: 14628
num of homozygotes: 8

European (Finnish)
type: Population
allele count: 200
allele frequency: 3.023888720895071e-2
allele num: 6614
num of homozygotes: 1

East Asian
type: Population
allele count: 2348
allele frequency: 2.720111214087118e-1
allele num: 8632
num of homozygotes: 313

Latino
type: Population
allele count: 749
allele frequency: 6.488218988218988e-2
allele num: 11544
num of homozygotes: 28

DP
type: SiteQuality
SIO_000300: 4.407141e6

FS
type: SiteQuality
SIO_000300: 5.639999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.761e0

VQSLOD
type: SiteQuality
SIO_000300: 4.95e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.186e-1

QD
type: SiteQuality
SIO_000300: 1.376e1

MQRankSum
type: SiteQuality
SIO_000300: 1.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.0e-2

MQ
type: SiteQuality
SIO_000300: 5.945e1

GenotypeQuality
all individuals: 114
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 480
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1531
bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65686
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14628
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
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: 1
allele frequency: 9.688044952528579e-5
allele num: 10322
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: 5.945e1

QD
type: SiteQuality
SIO_000300: 1.376e1

DP
type: SiteQuality
SIO_000300: 4.407141e6

VQSLOD
type: SiteQuality
SIO_000300: 4.95e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.186e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.761e0

FS
type: SiteQuality
SIO_000300: 5.639999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.27e-1