21-35208732-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35208732
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35208732
    reference: chr 21
allele count: 1
allele frequency: 9.021037058420237e-6
allele num: 110852
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.3344-13C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.3257-13C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000475422
  gene symbol: ITSN1
  hgvsc: ENST00000475422.1:n.740+6683C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.3470-13C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.3455-13C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000462212
  gene symbol: ITSN1
  hgvsc: ENST00000462212.1:n.859-13C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.3455-13C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.*240-13C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.3470-13C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.*291-13C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.3455-13C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000472548
  gene symbol: ITSN1
  hgvsc: ENST00000472548.1:n.286-13C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.3242-13C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000495656
  gene symbol: ITSN1
  hgvsc: ENST00000495656.1:n.286-13C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.286+70913G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.3470-13C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000479424
  gene symbol: ITSN1
  hgvsc: ENST00000479424.1:n.404-13C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000489261
  gene symbol: ITSN1
  hgvsc: ENST00000489261.1:n.859-13C>T
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff

21-35208745-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35208745
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35208745
    reference: chr 21
allele count: 2
allele frequency: 1.766815668121345e-5
allele num: 113198
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.3242T>C
  hgvsp: ENSP00000382286.1:p.Val1081Ala
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.3470T>C
  hgvsp: ENSP00000370719.3:p.Val1157Ala
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.3344T>C
  hgvsp: ENSP00000382290.1:p.Val1115Ala
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.*291T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.3257T>C
  hgvsp: ENSP00000382292.2:p.Val1086Ala
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000495656
  gene symbol: ITSN1
  hgvsc: ENST00000495656.1:n.286T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.3470T>C
  hgvsp: ENSP00000370685.4:p.Val1157Ala
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.3470T>C
  hgvsp: ENSP00000370691.4:p.Val1157Ala
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000462212
  gene symbol: ITSN1
  hgvsc: ENST00000462212.1:n.859T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000489261
  gene symbol: ITSN1
  hgvsc: ENST00000489261.1:n.859T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.*240T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.3455T>C
  hgvsp: ENSP00000382301.3:p.Val1152Ala
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.3455T>C
  hgvsp: ENSP00000382289.1:p.Val1152Ala
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000479424
  gene symbol: ITSN1
  hgvsc: ENST00000479424.1:n.404T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.3455T>C
  hgvsp: ENSP00000387377.2:p.Val1152Ala
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000475422
  gene symbol: ITSN1
  hgvsc: ENST00000475422.1:n.740+6696T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000472548
  gene symbol: ITSN1
  hgvsc: ENST00000472548.1:n.286T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.286+70900A>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val1157Ala
num of homozygotes: 1
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ

21-35208747-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35208747
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35208747
    reference: chr 21
allele count: 2
allele frequency: 1.76242509693338e-5
allele num: 113480
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.3244T>A
  hgvsp: ENSP00000382286.1:p.Cys1082Ser
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000479424
  gene symbol: ITSN1
  hgvsc: ENST00000479424.1:n.406T>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000472548
  gene symbol: ITSN1
  hgvsc: ENST00000472548.1:n.288T>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000475422
  gene symbol: ITSN1
  hgvsc: ENST00000475422.1:n.740+6698T>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.3472T>A
  hgvsp: ENSP00000370685.4:p.Cys1158Ser
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000489261
  gene symbol: ITSN1
  hgvsc: ENST00000489261.1:n.861T>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.3457T>A
  hgvsp: ENSP00000387377.2:p.Cys1153Ser
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.3457T>A
  hgvsp: ENSP00000382289.1:p.Cys1153Ser
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.3472T>A
  hgvsp: ENSP00000370691.4:p.Cys1158Ser
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.3457T>A
  hgvsp: ENSP00000382301.3:p.Cys1153Ser
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.3472T>A
  hgvsp: ENSP00000370719.3:p.Cys1158Ser
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.3346T>A
  hgvsp: ENSP00000382290.1:p.Cys1116Ser
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000495656
  gene symbol: ITSN1
  hgvsc: ENST00000495656.1:n.288T>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000462212
  gene symbol: ITSN1
  hgvsc: ENST00000462212.1:n.861T>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.*242T>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.286+70898A>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.3259T>A
  hgvsp: ENSP00000382292.2:p.Cys1087Ser
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.*293T>A
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Cys1158Ser
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum

21-35208754-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35208754
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35208754
    reference: chr 21
allele count: 1
allele frequency: 8.717483785480158e-6
allele num: 114712
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.3251T>C
  hgvsp: ENSP00000382286.1:p.Val1084Ala
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.3464T>C
  hgvsp: ENSP00000382289.1:p.Val1155Ala
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000479424
  gene symbol: ITSN1
  hgvsc: ENST00000479424.1:n.413T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.3464T>C
  hgvsp: ENSP00000387377.2:p.Val1155Ala
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.3479T>C
  hgvsp: ENSP00000370685.4:p.Val1160Ala
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000462212
  gene symbol: ITSN1
  hgvsc: ENST00000462212.1:n.868T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.*300T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000489261
  gene symbol: ITSN1
  hgvsc: ENST00000489261.1:n.868T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.3266T>C
  hgvsp: ENSP00000382292.2:p.Val1089Ala
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.3479T>C
  hgvsp: ENSP00000370691.4:p.Val1160Ala
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.3479T>C
  hgvsp: ENSP00000370719.3:p.Val1160Ala
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000472548
  gene symbol: ITSN1
  hgvsc: ENST00000472548.1:n.295T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000495656
  gene symbol: ITSN1
  hgvsc: ENST00000495656.1:n.295T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.3464T>C
  hgvsp: ENSP00000382301.3:p.Val1155Ala
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.*249T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.3353T>C
  hgvsp: ENSP00000382290.1:p.Val1118Ala
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000475422
  gene symbol: ITSN1
  hgvsc: ENST00000475422.1:n.740+6705T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.286+70891A>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5489
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val1160Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
population: African
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

21-35208761-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35208761
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35208761
    reference: chr 21
allele count: 3
allele frequency: 2.591076333108774e-5
allele num: 115782
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.3273G>T
  hgvsp: ENST00000399355.2:c.3273G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.3471G>T
  hgvsp: ENST00000399352.1:c.3471G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.3471G>T
  hgvsp: ENST00000399367.3:c.3471G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.286+70884C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000472548
  gene symbol: ITSN1
  hgvsc: ENST00000472548.1:n.302G>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000475422
  gene symbol: ITSN1
  hgvsc: ENST00000475422.1:n.740+6712G>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000489261
  gene symbol: ITSN1
  hgvsc: ENST00000489261.1:n.875G>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.3258G>T
  hgvsp: ENST00000399349.1:c.3258G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.*256G>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.3486G>T
  hgvsp: ENST00000381318.3:c.3486G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.3486G>T
  hgvsp: ENST00000381291.4:c.3486G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.3360G>T
  hgvsp: ENST00000399353.1:c.3360G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.3471G>T
  hgvsp: ENST00000437442.2:c.3471G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000462212
  gene symbol: ITSN1
  hgvsc: ENST00000462212.1:n.875G>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.*307G>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000479424
  gene symbol: ITSN1
  hgvsc: ENST00000479424.1:n.420G>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.3486G>T
  hgvsp: ENST00000381285.4:c.3486G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000495656
  gene symbol: ITSN1
  hgvsc: ENST00000495656.1:n.302G>T
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5556
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly1162Gly
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

21-35208768-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35208768
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35208768
    reference: chr 21
allele count: 4
allele frequency: 3.413610063322467e-5
allele num: 117178
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.3280G>A
  hgvsp: ENSP00000382292.2:p.Asp1094Asn
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.3493G>A
  hgvsp: ENSP00000370691.4:p.Asp1165Asn
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000489261
  gene symbol: ITSN1
  hgvsc: ENST00000489261.1:n.882G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.3265G>A
  hgvsp: ENSP00000382286.1:p.Asp1089Asn
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.*263G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000495656
  gene symbol: ITSN1
  hgvsc: ENST00000495656.1:n.309G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.3493G>A
  hgvsp: ENSP00000370719.3:p.Asp1165Asn
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.3478G>A
  hgvsp: ENSP00000382301.3:p.Asp1160Asn
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000475422
  gene symbol: ITSN1
  hgvsc: ENST00000475422.1:n.740+6719G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000479424
  gene symbol: ITSN1
  hgvsc: ENST00000479424.1:n.427G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.3367G>A
  hgvsp: ENSP00000382290.1:p.Asp1123Asn
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.3478G>A
  hgvsp: ENSP00000387377.2:p.Asp1160Asn
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000472548
  gene symbol: ITSN1
  hgvsc: ENST00000472548.1:n.309G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.286+70877C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000462212
  gene symbol: ITSN1
  hgvsc: ENST00000462212.1:n.882G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.*314G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.3478G>A
  hgvsp: ENSP00000382289.1:p.Asp1160Asn
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.3493G>A
  hgvsp: ENSP00000370685.4:p.Asp1165Asn
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Asp1165Asn
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

21-35208775-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35208775
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35208775
    reference: chr 21
allele count: 1
allele frequency: 8.462814393554721e-6
allele num: 118164
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000479424
  gene symbol: ITSN1
  hgvsc: ENST00000479424.1:n.434C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000495656
  gene symbol: ITSN1
  hgvsc: ENST00000495656.1:n.316C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.3500C>T
  hgvsp: ENSP00000370691.4:p.Thr1167Ile
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.286+70870G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000472548
  gene symbol: ITSN1
  hgvsc: ENST00000472548.1:n.316C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.3485C>T
  hgvsp: ENSP00000382301.3:p.Thr1162Ile
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.3500C>T
  hgvsp: ENSP00000370719.3:p.Thr1167Ile
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.3272C>T
  hgvsp: ENSP00000382286.1:p.Thr1091Ile
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.3500C>T
  hgvsp: ENSP00000370685.4:p.Thr1167Ile
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.3485C>T
  hgvsp: ENSP00000382289.1:p.Thr1162Ile
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.3287C>T
  hgvsp: ENSP00000382292.2:p.Thr1096Ile
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000489261
  gene symbol: ITSN1
  hgvsc: ENST00000489261.1:n.889C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000462212
  gene symbol: ITSN1
  hgvsc: ENST00000462212.1:n.889C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.3374C>T
  hgvsp: ENSP00000382290.1:p.Thr1125Ile
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.*270C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.3485C>T
  hgvsp: ENSP00000387377.2:p.Thr1162Ile
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000475422
  gene symbol: ITSN1
  hgvsc: ENST00000475422.1:n.740+6726C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.*321C>T
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14357
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr1167Ile
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: African
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

21-35208776-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35208776
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35208776
    reference: chr 21
allele count: 3
allele frequency: 2.535068446848065e-5
allele num: 118340
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.3375C>T
  hgvsp: ENST00000399353.1:c.3375C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.3501C>T
  hgvsp: ENST00000381318.3:c.3501C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.3501C>T
  hgvsp: ENST00000381285.4:c.3501C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.*322C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000462212
  gene symbol: ITSN1
  hgvsc: ENST00000462212.1:n.890C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.3273C>T
  hgvsp: ENST00000399349.1:c.3273C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000472548
  gene symbol: ITSN1
  hgvsc: ENST00000472548.1:n.317C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000475422
  gene symbol: ITSN1
  hgvsc: ENST00000475422.1:n.740+6727C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.3486C>T
  hgvsp: ENST00000399367.3:c.3486C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000479424
  gene symbol: ITSN1
  hgvsc: ENST00000479424.1:n.435C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.3486C>T
  hgvsp: ENST00000399352.1:c.3486C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000489261
  gene symbol: ITSN1
  hgvsc: ENST00000489261.1:n.890C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.286+70869G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.3288C>T
  hgvsp: ENST00000399355.2:c.3288C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000495656
  gene symbol: ITSN1
  hgvsc: ENST00000495656.1:n.317C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.3486C>T
  hgvsp: ENST00000437442.2:c.3486C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.3501C>T
  hgvsp: ENST00000381291.4:c.3501C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.*271C>T
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr1167Thr
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: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

21-35208777-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35208777
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35208777
    reference: chr 21
allele count: 19
allele frequency: 1.601402491445139e-4
allele num: 118646
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.3274G>A
  hgvsp: ENSP00000382286.1:p.Ala1092Thr
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000472548
  gene symbol: ITSN1
  hgvsc: ENST00000472548.1:n.318G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.3502G>A
  hgvsp: ENSP00000370685.4:p.Ala1168Thr
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.286+70868C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.3502G>A
  hgvsp: ENSP00000370719.3:p.Ala1168Thr
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000475422
  gene symbol: ITSN1
  hgvsc: ENST00000475422.1:n.740+6728G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.3289G>A
  hgvsp: ENSP00000382292.2:p.Ala1097Thr
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.3376G>A
  hgvsp: ENSP00000382290.1:p.Ala1126Thr
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.3487G>A
  hgvsp: ENSP00000382301.3:p.Ala1163Thr
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.3502G>A
  hgvsp: ENSP00000370691.4:p.Ala1168Thr
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.*323G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000489261
  gene symbol: ITSN1
  hgvsc: ENST00000489261.1:n.891G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.3487G>A
  hgvsp: ENSP00000387377.2:p.Ala1163Thr
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.3487G>A
  hgvsp: ENSP00000382289.1:p.Ala1163Thr
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.*272G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000462212
  gene symbol: ITSN1
  hgvsc: ENST00000462212.1:n.891G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000479424
  gene symbol: ITSN1
  hgvsc: ENST00000479424.1:n.436G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000495656
  gene symbol: ITSN1
  hgvsc: ENST00000495656.1:n.318G>A
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5735
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35070
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Ala1168Thr
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

21-35208778-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35208778
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35208778
    reference: chr 21
allele count: 2
allele frequency: 1.683671751355356e-5
allele num: 118788
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.3275C>T
  hgvsp: ENSP00000382286.1:p.Ala1092Val
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000475422
  gene symbol: ITSN1
  hgvsc: ENST00000475422.1:n.740+6729C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000472548
  gene symbol: ITSN1
  hgvsc: ENST00000472548.1:n.319C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.3377C>T
  hgvsp: ENSP00000382290.1:p.Ala1126Val
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000479424
  gene symbol: ITSN1
  hgvsc: ENST00000479424.1:n.437C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000462212
  gene symbol: ITSN1
  hgvsc: ENST00000462212.1:n.892C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.3503C>T
  hgvsp: ENSP00000370691.4:p.Ala1168Val
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.3488C>T
  hgvsp: ENSP00000382301.3:p.Ala1163Val
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.3488C>T
  hgvsp: ENSP00000387377.2:p.Ala1163Val
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.3290C>T
  hgvsp: ENSP00000382292.2:p.Ala1097Val
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.286+70867G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000495656
  gene symbol: ITSN1
  hgvsc: ENST00000495656.1:n.319C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.3503C>T
  hgvsp: ENSP00000370685.4:p.Ala1168Val
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.3503C>T
  hgvsp: ENSP00000370719.3:p.Ala1168Val
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000489261
  gene symbol: ITSN1
  hgvsc: ENST00000489261.1:n.892C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.*273C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.3488C>T
  hgvsp: ENSP00000382289.1:p.Ala1163Val
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.*324C>T
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ala1168Val
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum

21-35208779-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35208779
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35208779
    reference: chr 21
allele count: 6
allele frequency: 5.036683847354901e-5
allele num: 119126
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000489261
  gene symbol: ITSN1
  hgvsc: ENST00000489261.1:n.893G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.3291G>A
  hgvsp: ENST00000399355.2:c.3291G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.286+70866C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.*274G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.3504G>A
  hgvsp: ENST00000381318.3:c.3504G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000479424
  gene symbol: ITSN1
  hgvsc: ENST00000479424.1:n.438G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.3504G>A
  hgvsp: ENST00000381285.4:c.3504G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.3489G>A
  hgvsp: ENST00000399352.1:c.3489G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.*325G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000475422
  gene symbol: ITSN1
  hgvsc: ENST00000475422.1:n.740+6730G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.3276G>A
  hgvsp: ENST00000399349.1:c.3276G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000462212
  gene symbol: ITSN1
  hgvsc: ENST00000462212.1:n.893G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.3504G>A
  hgvsp: ENST00000381291.4:c.3504G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.3378G>A
  hgvsp: ENST00000399353.1:c.3378G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000495656
  gene symbol: ITSN1
  hgvsc: ENST00000495656.1:n.320G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.3489G>A
  hgvsp: ENST00000437442.2:c.3489G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.3489G>A
  hgvsp: ENST00000399367.3:c.3489G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000472548
  gene symbol: ITSN1
  hgvsc: ENST00000472548.1:n.320G>A
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala1168Ala
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP

21-35208784-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35208784
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35208784
    reference: chr 21
allele count: 1
allele frequency: 8.348081610845828e-6
allele num: 119788
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.*279A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.3383A>G
  hgvsp: ENSP00000382290.1:p.Asn1128Ser
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000472548
  gene symbol: ITSN1
  hgvsc: ENST00000472548.1:n.325A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.3281A>G
  hgvsp: ENSP00000382286.1:p.Asn1094Ser
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000462212
  gene symbol: ITSN1
  hgvsc: ENST00000462212.1:n.898A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.3509A>G
  hgvsp: ENSP00000370691.4:p.Asn1170Ser
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000495656
  gene symbol: ITSN1
  hgvsc: ENST00000495656.1:n.325A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.3296A>G
  hgvsp: ENSP00000382292.2:p.Asn1099Ser
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.3494A>G
  hgvsp: ENSP00000382289.1:p.Asn1165Ser
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.3494A>G
  hgvsp: ENSP00000387377.2:p.Asn1165Ser
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.3509A>G
  hgvsp: ENSP00000370685.4:p.Asn1170Ser
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.3494A>G
  hgvsp: ENSP00000382301.3:p.Asn1165Ser
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.3509A>G
  hgvsp: ENSP00000370719.3:p.Asn1170Ser
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.286+70861T>C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.*330A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000475422
  gene symbol: ITSN1
  hgvsc: ENST00000475422.1:n.740+6735A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000489261
  gene symbol: ITSN1
  hgvsc: ENST00000489261.1:n.898A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000479424
  gene symbol: ITSN1
  hgvsc: ENST00000479424.1:n.443A>G
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Asn1170Ser
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD

21-35208788-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35208788
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35208788
    reference: chr 21
allele count: 12
allele frequency: 9.995668543631093e-5
allele num: 120052
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000475422
  gene symbol: ITSN1
  hgvsc: ENST00000475422.1:n.740+6739C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.3513C>T
  hgvsp: ENST00000381285.4:c.3513C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.3513C>T
  hgvsp: ENST00000381291.4:c.3513C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.3513C>T
  hgvsp: ENST00000381318.3:c.3513C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.3498C>T
  hgvsp: ENST00000399352.1:c.3498C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000495656
  gene symbol: ITSN1
  hgvsc: ENST00000495656.1:n.329C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.3387C>T
  hgvsp: ENST00000399353.1:c.3387C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000462212
  gene symbol: ITSN1
  hgvsc: ENST00000462212.1:n.902C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000489261
  gene symbol: ITSN1
  hgvsc: ENST00000489261.1:n.902C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.3498C>T
  hgvsp: ENST00000399367.3:c.3498C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.286+70857G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.3300C>T
  hgvsp: ENST00000399355.2:c.3300C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000479424
  gene symbol: ITSN1
  hgvsc: ENST00000479424.1:n.447C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.*334C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.3285C>T
  hgvsp: ENST00000399349.1:c.3285C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.*283C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000472548
  gene symbol: ITSN1
  hgvsc: ENST00000472548.1:n.329C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.3498C>T
  hgvsp: ENST00000437442.2:c.3498C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp1171Asp
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum

21-35208791-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35208791
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35208791
    reference: chr 21
allele count: 2
allele frequency: 1.661239949498306e-5
allele num: 120392
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.3516T>C
  hgvsp: ENST00000381318.3:c.3516T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000495656
  gene symbol: ITSN1
  hgvsc: ENST00000495656.1:n.332T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.3288T>C
  hgvsp: ENST00000399349.1:c.3288T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.*337T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.*286T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.3501T>C
  hgvsp: ENST00000399367.3:c.3501T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000479424
  gene symbol: ITSN1
  hgvsc: ENST00000479424.1:n.450T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.3516T>C
  hgvsp: ENST00000381291.4:c.3516T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.3516T>C
  hgvsp: ENST00000381285.4:c.3516T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.286+70854A>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.3390T>C
  hgvsp: ENST00000399353.1:c.3390T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.3303T>C
  hgvsp: ENST00000399355.2:c.3303T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000475422
  gene symbol: ITSN1
  hgvsc: ENST00000475422.1:n.740+6742T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.3501T>C
  hgvsp: ENST00000437442.2:c.3501T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.3501T>C
  hgvsp: ENST00000399352.1:c.3501T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000462212
  gene symbol: ITSN1
  hgvsc: ENST00000462212.1:n.905T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000472548
  gene symbol: ITSN1
  hgvsc: ENST00000472548.1:n.332T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000489261
  gene symbol: ITSN1
  hgvsc: ENST00000489261.1:n.905T>C
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5801
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp1172Asp
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: African
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

21-35208801-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35208801
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35208801
    reference: chr 21
allele count: 2
allele frequency: 1.654807214959457e-5
allele num: 120860
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.3526T>G
  hgvsp: ENSP00000370719.3:p.Phe1176Val
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.*347T>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.3400T>G
  hgvsp: ENSP00000382290.1:p.Phe1134Val
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000472548
  gene symbol: ITSN1
  hgvsc: ENST00000472548.1:n.342T>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.*296T>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000489261
  gene symbol: ITSN1
  hgvsc: ENST00000489261.1:n.915T>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.3298T>G
  hgvsp: ENSP00000382286.1:p.Phe1100Val
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000475422
  gene symbol: ITSN1
  hgvsc: ENST00000475422.1:n.740+6752T>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.3511T>G
  hgvsp: ENSP00000382301.3:p.Phe1171Val
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000462212
  gene symbol: ITSN1
  hgvsc: ENST00000462212.1:n.915T>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.3526T>G
  hgvsp: ENSP00000370691.4:p.Phe1176Val
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000479424
  gene symbol: ITSN1
  hgvsc: ENST00000479424.1:n.460T>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.3511T>G
  hgvsp: ENSP00000382289.1:p.Phe1171Val
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.3313T>G
  hgvsp: ENSP00000382292.2:p.Phe1105Val
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.3511T>G
  hgvsp: ENSP00000387377.2:p.Phe1171Val
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.286+70844A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000495656
  gene symbol: ITSN1
  hgvsc: ENST00000495656.1:n.342T>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.3526T>G
  hgvsp: ENSP00000370685.4:p.Phe1176Val
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe1176Val
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum

21-35208804-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35208804
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35208804
    reference: chr 21
allele count: 1
allele frequency: 8.267879288962381e-6
allele num: 120950
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000462212
  gene symbol: ITSN1
  hgvsc: ENST00000462212.1:n.918A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000475422
  gene symbol: ITSN1
  hgvsc: ENST00000475422.1:n.740+6755A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.3301A>G
  hgvsp: ENSP00000382286.1:p.Asn1101Asp
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.3529A>G
  hgvsp: ENSP00000370719.3:p.Asn1177Asp
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.*299A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.3529A>G
  hgvsp: ENSP00000370691.4:p.Asn1177Asp
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.3316A>G
  hgvsp: ENSP00000382292.2:p.Asn1106Asp
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000479424
  gene symbol: ITSN1
  hgvsc: ENST00000479424.1:n.463A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000472548
  gene symbol: ITSN1
  hgvsc: ENST00000472548.1:n.345A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000489261
  gene symbol: ITSN1
  hgvsc: ENST00000489261.1:n.918A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.3529A>G
  hgvsp: ENSP00000370685.4:p.Asn1177Asp
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.3514A>G
  hgvsp: ENSP00000382289.1:p.Asn1172Asp
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.286+70841T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.3514A>G
  hgvsp: ENSP00000387377.2:p.Asn1172Asp
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.3403A>G
  hgvsp: ENSP00000382290.1:p.Asn1135Asp
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.3514A>G
  hgvsp: ENSP00000382301.3:p.Asn1172Asp
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000495656
  gene symbol: ITSN1
  hgvsc: ENST00000495656.1:n.345A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.*350A>G
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15208
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn1177Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD

http://identifiers.org/exac.variant/21-35208805-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35208805
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35208805
    reference: chr 21
allele count: 1
allele frequency: 8.266102367411717e-6
allele num: 120976
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.3515A>C
  hgvsp: ENSP00000387377.2:p.Asn1172Thr
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.3515A>C
  hgvsp: ENSP00000382289.1:p.Asn1172Thr
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.3530A>C
  hgvsp: ENSP00000370685.4:p.Asn1177Thr
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000475422
  gene symbol: ITSN1
  hgvsc: ENST00000475422.1:n.740+6756A>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.3530A>C
  hgvsp: ENSP00000370719.3:p.Asn1177Thr
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000479424
  gene symbol: ITSN1
  hgvsc: ENST00000479424.1:n.464A>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.*300A>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.3515A>C
  hgvsp: ENSP00000382301.3:p.Asn1172Thr
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.3302A>C
  hgvsp: ENSP00000382286.1:p.Asn1101Thr
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.286+70840T>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.3317A>C
  hgvsp: ENSP00000382292.2:p.Asn1106Thr
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000495656
  gene symbol: ITSN1
  hgvsc: ENST00000495656.1:n.346A>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.3404A>C
  hgvsp: ENSP00000382290.1:p.Asn1135Thr
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000462212
  gene symbol: ITSN1
  hgvsc: ENST00000462212.1:n.919A>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000472548
  gene symbol: ITSN1
  hgvsc: ENST00000472548.1:n.346A>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.3530A>C
  hgvsp: ENSP00000370691.4:p.Asn1177Thr
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.*351A>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000489261
  gene symbol: ITSN1
  hgvsc: ENST00000489261.1:n.919A>C
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15217
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36035
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn1177Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

21-35208805-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35208805
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35208805
    reference: chr 21
allele count: 2
allele frequency: 1.653220473482343e-5
allele num: 120976
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.3515A>G
  hgvsp: ENSP00000382289.1:p.Asn1172Ser
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000462212
  gene symbol: ITSN1
  hgvsc: ENST00000462212.1:n.919A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000495656
  gene symbol: ITSN1
  hgvsc: ENST00000495656.1:n.346A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.*300A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.3530A>G
  hgvsp: ENSP00000370719.3:p.Asn1177Ser
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.3515A>G
  hgvsp: ENSP00000382301.3:p.Asn1172Ser
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.3530A>G
  hgvsp: ENSP00000370685.4:p.Asn1177Ser
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.3302A>G
  hgvsp: ENSP00000382286.1:p.Asn1101Ser
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.3317A>G
  hgvsp: ENSP00000382292.2:p.Asn1106Ser
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000475422
  gene symbol: ITSN1
  hgvsc: ENST00000475422.1:n.740+6756A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000489261
  gene symbol: ITSN1
  hgvsc: ENST00000489261.1:n.919A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.3530A>G
  hgvsp: ENSP00000370691.4:p.Asn1177Ser
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000472548
  gene symbol: ITSN1
  hgvsc: ENST00000472548.1:n.346A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.*351A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000479424
  gene symbol: ITSN1
  hgvsc: ENST00000479424.1:n.464A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.286+70840T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.3404A>G
  hgvsp: ENSP00000382290.1:p.Asn1135Ser
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.3515A>G
  hgvsp: ENSP00000387377.2:p.Asn1172Ser
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn1177Ser
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: African
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum

21-35208811-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35208811
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35208811
    reference: chr 21
allele count: 2
allele frequency: 1.651227687785869e-5
allele num: 121122
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.3323G>A
  hgvsp: ENSP00000382292.2:p.Gly1108Asp
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.3521G>A
  hgvsp: ENSP00000382301.3:p.Gly1174Asp
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.3521G>A
  hgvsp: ENSP00000382289.1:p.Gly1174Asp
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000479424
  gene symbol: ITSN1
  hgvsc: ENST00000479424.1:n.470G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.*357G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000475422
  gene symbol: ITSN1
  hgvsc: ENST00000475422.1:n.740+6762G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.*306G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.3536G>A
  hgvsp: ENSP00000370719.3:p.Gly1179Asp
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000462212
  gene symbol: ITSN1
  hgvsc: ENST00000462212.1:n.925G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.3536G>A
  hgvsp: ENSP00000370691.4:p.Gly1179Asp
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.3521G>A
  hgvsp: ENSP00000387377.2:p.Gly1174Asp
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.3410G>A
  hgvsp: ENSP00000382290.1:p.Gly1137Asp
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000495656
  gene symbol: ITSN1
  hgvsc: ENST00000495656.1:n.352G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.3308G>A
  hgvsp: ENSP00000382286.1:p.Gly1103Asp
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000489261
  gene symbol: ITSN1
  hgvsc: ENST00000489261.1:n.925G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.286+70834C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.3536G>A
  hgvsp: ENSP00000370685.4:p.Gly1179Asp
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000472548
  gene symbol: ITSN1
  hgvsc: ENST00000472548.1:n.352G>A
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Gly1179Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD

21-35208816-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35208816
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35208816
    reference: chr 21
allele count: 4
allele frequency: 3.301038176506511e-5
allele num: 121174
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.*362A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000475422
  gene symbol: ITSN1
  hgvsc: ENST00000475422.1:n.740+6767A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000472548
  gene symbol: ITSN1
  hgvsc: ENST00000472548.1:n.357A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000489261
  gene symbol: ITSN1
  hgvsc: ENST00000489261.1:n.930A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.3313A>G
  hgvsp: ENSP00000382286.1:p.Ile1105Val
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.3415A>G
  hgvsp: ENSP00000382290.1:p.Ile1139Val
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.*311A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.3328A>G
  hgvsp: ENSP00000382292.2:p.Ile1110Val
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.3541A>G
  hgvsp: ENSP00000370685.4:p.Ile1181Val
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.3526A>G
  hgvsp: ENSP00000382301.3:p.Ile1176Val
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.3541A>G
  hgvsp: ENSP00000370719.3:p.Ile1181Val
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.3541A>G
  hgvsp: ENSP00000370691.4:p.Ile1181Val
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.3526A>G
  hgvsp: ENSP00000387377.2:p.Ile1176Val
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.3526A>G
  hgvsp: ENSP00000382289.1:p.Ile1176Val
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000479424
  gene symbol: ITSN1
  hgvsc: ENST00000479424.1:n.475A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.286+70829T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000462212
  gene symbol: ITSN1
  hgvsc: ENST00000462212.1:n.930A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000495656
  gene symbol: ITSN1
  hgvsc: ENST00000495656.1:n.357A>G
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5867
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15283
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile1181Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

21-35208823-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35208823
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35208823
    reference: chr 21
allele count: 5
allele frequency: 4.12452774157359e-5
allele num: 121226
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.3533A>G
  hgvsp: ENSP00000382289.1:p.Asn1178Ser
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.3320A>G
  hgvsp: ENSP00000382286.1:p.Asn1107Ser
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.3548A>G
  hgvsp: ENSP00000370691.4:p.Asn1183Ser
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.3548A>G
  hgvsp: ENSP00000370719.3:p.Asn1183Ser
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000472548
  gene symbol: ITSN1
  hgvsc: ENST00000472548.1:n.364A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.3533A>G
  hgvsp: ENSP00000382301.3:p.Asn1178Ser
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000462212
  gene symbol: ITSN1
  hgvsc: ENST00000462212.1:n.937A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000495656
  gene symbol: ITSN1
  hgvsc: ENST00000495656.1:n.364A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.3548A>G
  hgvsp: ENSP00000370685.4:p.Asn1183Ser
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000489261
  gene symbol: ITSN1
  hgvsc: ENST00000489261.1:n.937A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.3422A>G
  hgvsp: ENSP00000382290.1:p.Asn1141Ser
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.*369A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.3335A>G
  hgvsp: ENSP00000382292.2:p.Asn1112Ser
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.3533A>G
  hgvsp: ENSP00000387377.2:p.Asn1178Ser
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000479424
  gene symbol: ITSN1
  hgvsc: ENST00000479424.1:n.482A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000475422
  gene symbol: ITSN1
  hgvsc: ENST00000475422.1:n.740+6774A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.286+70822T>C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.*318A>G
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36101
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Asn1183Ser
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: A
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

21-35208824-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35208824
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35208824
    reference: chr 21
allele count: 3
allele frequency: 2.474716644944154e-5
allele num: 121226
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.3336C>T
  hgvsp: ENST00000399355.2:c.3336C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.3549C>T
  hgvsp: ENST00000381291.4:c.3549C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.3534C>T
  hgvsp: ENST00000437442.2:c.3534C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.3534C>T
  hgvsp: ENST00000399352.1:c.3534C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.*319C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000475422
  gene symbol: ITSN1
  hgvsc: ENST00000475422.1:n.740+6775C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.3549C>T
  hgvsp: ENST00000381318.3:c.3549C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.3423C>T
  hgvsp: ENST00000399353.1:c.3423C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.286+70821G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.3534C>T
  hgvsp: ENST00000399367.3:c.3534C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000472548
  gene symbol: ITSN1
  hgvsc: ENST00000472548.1:n.365C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000495656
  gene symbol: ITSN1
  hgvsc: ENST00000495656.1:n.365C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.3549C>T
  hgvsp: ENST00000381285.4:c.3549C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.3321C>T
  hgvsp: ENST00000399349.1:c.3321C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.*370C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000462212
  gene symbol: ITSN1
  hgvsc: ENST00000462212.1:n.938C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000489261
  gene symbol: ITSN1
  hgvsc: ENST00000489261.1:n.938C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000479424
  gene symbol: ITSN1
  hgvsc: ENST00000479424.1:n.483C>T
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5881
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15300
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn1183Asn
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum

21-35208825-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35208825
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35208825
    reference: chr 21
allele count: 1
allele frequency: 8.248102936324645e-6
allele num: 121240
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.3535G>A
  hgvsp: ENSP00000382289.1:p.Val1179Ile
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.3550G>A
  hgvsp: ENSP00000370691.4:p.Val1184Ile
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000495656
  gene symbol: ITSN1
  hgvsc: ENST00000495656.1:n.366G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.*320G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.*371G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000489261
  gene symbol: ITSN1
  hgvsc: ENST00000489261.1:n.939G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000479424
  gene symbol: ITSN1
  hgvsc: ENST00000479424.1:n.484G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.3322G>A
  hgvsp: ENSP00000382286.1:p.Val1108Ile
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000472548
  gene symbol: ITSN1
  hgvsc: ENST00000472548.1:n.366G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.3337G>A
  hgvsp: ENSP00000382292.2:p.Val1113Ile
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.3550G>A
  hgvsp: ENSP00000370685.4:p.Val1184Ile
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.3550G>A
  hgvsp: ENSP00000370719.3:p.Val1184Ile
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.3535G>A
  hgvsp: ENSP00000382301.3:p.Val1179Ile
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000462212
  gene symbol: ITSN1
  hgvsc: ENST00000462212.1:n.939G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.286+70820C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000475422
  gene symbol: ITSN1
  hgvsc: ENST00000475422.1:n.740+6776G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.3535G>A
  hgvsp: ENSP00000387377.2:p.Val1179Ile
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.3424G>A
  hgvsp: ENSP00000382290.1:p.Val1142Ile
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5882
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val1184Ile
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQ

21-35208825-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35208825
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35208825
    reference: chr 21
allele count: 1
allele frequency: 8.248102936324645e-6
allele num: 121240
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.3535G>C
  hgvsp: ENSP00000387377.2:p.Val1179Leu
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.3550G>C
  hgvsp: ENSP00000370685.4:p.Val1184Leu
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.3322G>C
  hgvsp: ENSP00000382286.1:p.Val1108Leu
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000462212
  gene symbol: ITSN1
  hgvsc: ENST00000462212.1:n.939G>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000495656
  gene symbol: ITSN1
  hgvsc: ENST00000495656.1:n.366G>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.3550G>C
  hgvsp: ENSP00000370719.3:p.Val1184Leu
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000489261
  gene symbol: ITSN1
  hgvsc: ENST00000489261.1:n.939G>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.3535G>C
  hgvsp: ENSP00000382301.3:p.Val1179Leu
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.*371G>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000475422
  gene symbol: ITSN1
  hgvsc: ENST00000475422.1:n.740+6776G>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000479424
  gene symbol: ITSN1
  hgvsc: ENST00000479424.1:n.484G>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.3337G>C
  hgvsp: ENSP00000382292.2:p.Val1113Leu
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.3535G>C
  hgvsp: ENSP00000382289.1:p.Val1179Leu
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.*320G>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.3550G>C
  hgvsp: ENSP00000370691.4:p.Val1184Leu
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000472548
  gene symbol: ITSN1
  hgvsc: ENST00000472548.1:n.366G>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.286+70820C>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.3424G>C
  hgvsp: ENSP00000382290.1:p.Val1142Leu
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val1184Leu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum

21-35208827-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35208827
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35208827
    reference: chr 21
allele count: 2
allele frequency: 1.649430121892886e-5
allele num: 121254
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.286+70818G>C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.3552C>G
  hgvsp: ENST00000381318.3:c.3552C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.*373C>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.3552C>G
  hgvsp: ENST00000381291.4:c.3552C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.3339C>G
  hgvsp: ENST00000399355.2:c.3339C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.3552C>G
  hgvsp: ENST00000381285.4:c.3552C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000489261
  gene symbol: ITSN1
  hgvsc: ENST00000489261.1:n.941C>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.3537C>G
  hgvsp: ENST00000399352.1:c.3537C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.3324C>G
  hgvsp: ENST00000399349.1:c.3324C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.3537C>G
  hgvsp: ENST00000437442.2:c.3537C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000495656
  gene symbol: ITSN1
  hgvsc: ENST00000495656.1:n.368C>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.3426C>G
  hgvsp: ENST00000399353.1:c.3426C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.*322C>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000472548
  gene symbol: ITSN1
  hgvsc: ENST00000472548.1:n.368C>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000475422
  gene symbol: ITSN1
  hgvsc: ENST00000475422.1:n.740+6778C>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.3537C>G
  hgvsp: ENST00000399367.3:c.3537C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000462212
  gene symbol: ITSN1
  hgvsc: ENST00000462212.1:n.941C>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000479424
  gene symbol: ITSN1
  hgvsc: ENST00000479424.1:n.486C>G
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15313
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5884
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val1184Val
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

21-35208836-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35208836
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35208836
    reference: chr 21
allele count: 1
allele frequency: 8.243887157672586e-6
allele num: 121302
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.3561G>T
  hgvsp: ENSP00000370719.3:p.Lys1187Asn
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.3546G>T
  hgvsp: ENSP00000387377.2:p.Lys1182Asn
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.3561G>T
  hgvsp: ENSP00000370691.4:p.Lys1187Asn
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.286+70809C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000462212
  gene symbol: ITSN1
  hgvsc: ENST00000462212.1:n.950G>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.3561G>T
  hgvsp: ENSP00000370685.4:p.Lys1187Asn
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000479424
  gene symbol: ITSN1
  hgvsc: ENST00000479424.1:n.495G>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.3546G>T
  hgvsp: ENSP00000382301.3:p.Lys1182Asn
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000489261
  gene symbol: ITSN1
  hgvsc: ENST00000489261.1:n.950G>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.3546G>T
  hgvsp: ENSP00000382289.1:p.Lys1182Asn
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000475422
  gene symbol: ITSN1
  hgvsc: ENST00000475422.1:n.740+6787G>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000472548
  gene symbol: ITSN1
  hgvsc: ENST00000472548.1:n.377G>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.*382G>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.3333G>T
  hgvsp: ENSP00000382286.1:p.Lys1111Asn
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.3348G>T
  hgvsp: ENSP00000382292.2:p.Lys1116Asn
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.3435G>T
  hgvsp: ENSP00000382290.1:p.Lys1145Asn
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000495656
  gene symbol: ITSN1
  hgvsc: ENST00000495656.1:n.377G>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.*331G>T
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys1187Asn
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

21-35208845-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35208845
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35208845
    reference: chr 21
allele count: 1
allele frequency: 8.242528148233626e-6
allele num: 121322
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.3570T>C
  hgvsp: ENST00000381285.4:c.3570T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000462212
  gene symbol: ITSN1
  hgvsc: ENST00000462212.1:n.959T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.286+70800A>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.3570T>C
  hgvsp: ENST00000381291.4:c.3570T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.*340T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.3357T>C
  hgvsp: ENST00000399355.2:c.3357T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.3444T>C
  hgvsp: ENST00000399353.1:c.3444T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.3342T>C
  hgvsp: ENST00000399349.1:c.3342T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000495656
  gene symbol: ITSN1
  hgvsc: ENST00000495656.1:n.386T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.3555T>C
  hgvsp: ENST00000399367.3:c.3555T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.3555T>C
  hgvsp: ENST00000437442.2:c.3555T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.*391T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000472548
  gene symbol: ITSN1
  hgvsc: ENST00000472548.1:n.386T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.3570T>C
  hgvsp: ENST00000381318.3:c.3570T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000479424
  gene symbol: ITSN1
  hgvsc: ENST00000479424.1:n.504T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000475422
  gene symbol: ITSN1
  hgvsc: ENST00000475422.1:n.740+6796T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000489261
  gene symbol: ITSN1
  hgvsc: ENST00000489261.1:n.959T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.3555T>C
  hgvsp: ENST00000399352.1:c.3555T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro1190Pro
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/21-35208847-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35208847
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35208847
    reference: chr 21
allele count: 1
allele frequency: 8.242392271933006e-6
allele num: 121324
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.3557A>C
  hgvsp: ENSP00000382301.3:p.Asp1186Ala
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.3344A>C
  hgvsp: ENSP00000382286.1:p.Asp1115Ala
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000475422
  gene symbol: ITSN1
  hgvsc: ENST00000475422.1:n.740+6798A>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.3359A>C
  hgvsp: ENSP00000382292.2:p.Asp1120Ala
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.286+70798T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000495656
  gene symbol: ITSN1
  hgvsc: ENST00000495656.1:n.388A>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.3557A>C
  hgvsp: ENSP00000382289.1:p.Asp1186Ala
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000472548
  gene symbol: ITSN1
  hgvsc: ENST00000472548.1:n.388A>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.*342A>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.3572A>C
  hgvsp: ENSP00000370691.4:p.Asp1191Ala
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.3557A>C
  hgvsp: ENSP00000387377.2:p.Asp1186Ala
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.3572A>C
  hgvsp: ENSP00000370719.3:p.Asp1191Ala
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000489261
  gene symbol: ITSN1
  hgvsc: ENST00000489261.1:n.961A>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000479424
  gene symbol: ITSN1
  hgvsc: ENST00000479424.1:n.506A>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.3572A>C
  hgvsp: ENSP00000370685.4:p.Asp1191Ala
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000462212
  gene symbol: ITSN1
  hgvsc: ENST00000462212.1:n.961A>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.3446A>C
  hgvsp: ENSP00000382290.1:p.Asp1149Ala
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.*393A>C
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp1191Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum

21-35208852-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35208852
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35208852
    reference: chr 21
allele count: 1
allele frequency: 8.242256400112095e-6
allele num: 121326
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000472548
  gene symbol: ITSN1
  hgvsc: ENST00000472548.1:n.393T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.3451T>C
  hgvsp: ENSP00000382290.1:p.Trp1151Arg
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.*398T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.3577T>C
  hgvsp: ENSP00000370685.4:p.Trp1193Arg
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.3562T>C
  hgvsp: ENSP00000382301.3:p.Trp1188Arg
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.286+70793A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.3364T>C
  hgvsp: ENSP00000382292.2:p.Trp1122Arg
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.3562T>C
  hgvsp: ENSP00000382289.1:p.Trp1188Arg
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.3349T>C
  hgvsp: ENSP00000382286.1:p.Trp1117Arg
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.3577T>C
  hgvsp: ENSP00000370719.3:p.Trp1193Arg
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.3562T>C
  hgvsp: ENSP00000387377.2:p.Trp1188Arg
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000462212
  gene symbol: ITSN1
  hgvsc: ENST00000462212.1:n.966T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.*347T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000479424
  gene symbol: ITSN1
  hgvsc: ENST00000479424.1:n.511T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.3577T>C
  hgvsp: ENSP00000370691.4:p.Trp1193Arg
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000495656
  gene symbol: ITSN1
  hgvsc: ENST00000495656.1:n.393T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000489261
  gene symbol: ITSN1
  hgvsc: ENST00000489261.1:n.966T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000475422
  gene symbol: ITSN1
  hgvsc: ENST00000475422.1:n.740+6803T>C
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Trp1193Arg
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

21-35208868-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35208868
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35208868
    reference: chr 21
allele count: 17
allele frequency: 1.401091202795589e-4
allele num: 121334
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.3578A>G
  hgvsp: ENSP00000387377.2:p.Asn1193Ser
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.3578A>G
  hgvsp: ENSP00000382289.1:p.Asn1193Ser
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000462212
  gene symbol: ITSN1
  hgvsc: ENST00000462212.1:n.982A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.3467A>G
  hgvsp: ENSP00000382290.1:p.Asn1156Ser
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.3578A>G
  hgvsp: ENSP00000382301.3:p.Asn1193Ser
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000489261
  gene symbol: ITSN1
  hgvsc: ENST00000489261.1:n.982A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.3365A>G
  hgvsp: ENSP00000382286.1:p.Asn1122Ser
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.3593A>G
  hgvsp: ENSP00000370691.4:p.Asn1198Ser
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.3593A>G
  hgvsp: ENSP00000370685.4:p.Asn1198Ser
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.3593A>G
  hgvsp: ENSP00000370719.3:p.Asn1198Ser
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000472548
  gene symbol: ITSN1
  hgvsc: ENST00000472548.1:n.409A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.3380A>G
  hgvsp: ENSP00000382292.2:p.Asn1127Ser
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000475422
  gene symbol: ITSN1
  hgvsc: ENST00000475422.1:n.740+6819A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.*414A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000479424
  gene symbol: ITSN1
  hgvsc: ENST00000479424.1:n.527A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.*363A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.286+70777T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000495656
  gene symbol: ITSN1
  hgvsc: ENST00000495656.1:n.409A>G
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36080
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn1198Ser
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

21-35208881-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35208881
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35208881
    reference: chr 21
allele count: 10
allele frequency: 8.243751236562685e-5
allele num: 121304
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000495656
  gene symbol: ITSN1
  hgvsc: ENST00000495656.1:n.422G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.*427G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.3591G>A
  hgvsp: ENST00000399367.3:c.3591G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.3480G>A
  hgvsp: ENST00000399353.1:c.3480G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000489261
  gene symbol: ITSN1
  hgvsc: ENST00000489261.1:n.995G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.3591G>A
  hgvsp: ENST00000437442.2:c.3591G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000472548
  gene symbol: ITSN1
  hgvsc: ENST00000472548.1:n.422G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.3606G>A
  hgvsp: ENST00000381318.3:c.3606G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.3378G>A
  hgvsp: ENST00000399349.1:c.3378G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.3606G>A
  hgvsp: ENST00000381285.4:c.3606G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.286+70764C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.3393G>A
  hgvsp: ENST00000399355.2:c.3393G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.3606G>A
  hgvsp: ENST00000381291.4:c.3606G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000462212
  gene symbol: ITSN1
  hgvsc: ENST00000462212.1:n.995G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000479424
  gene symbol: ITSN1
  hgvsc: ENST00000479424.1:n.540G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.3591G>A
  hgvsp: ENST00000399352.1:c.3591G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000475422
  gene symbol: ITSN1
  hgvsc: ENST00000475422.1:n.740+6832G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.*376G>A
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1504
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly1202Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: African
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: DP

21-35208905-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35208905
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35208905
    reference: chr 21
allele count: 1
allele frequency: 8.263779852904718e-6
allele num: 121010
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.3504G>A
  hgvsp: ENST00000399353.1:c.3504G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.3615G>A
  hgvsp: ENST00000399352.1:c.3615G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.3417G>A
  hgvsp: ENST00000399355.2:c.3417G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.*451G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.3630G>A
  hgvsp: ENST00000381318.3:c.3630G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000462212
  gene symbol: ITSN1
  hgvsc: ENST00000462212.1:n.1019G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000475422
  gene symbol: ITSN1
  hgvsc: ENST00000475422.1:n.740+6856G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.3630G>A
  hgvsp: ENST00000381285.4:c.3630G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.3615G>A
  hgvsp: ENST00000399367.3:c.3615G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000495656
  gene symbol: ITSN1
  hgvsc: ENST00000495656.1:n.446G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.3402G>A
  hgvsp: ENST00000399349.1:c.3402G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000472548
  gene symbol: ITSN1
  hgvsc: ENST00000472548.1:n.446G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.3615G>A
  hgvsp: ENST00000437442.2:c.3615G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.3630G>A
  hgvsp: ENST00000381291.4:c.3630G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.*400G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000489261
  gene symbol: ITSN1
  hgvsc: ENST00000489261.1:n.1019G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000479424
  gene symbol: ITSN1
  hgvsc: ENST00000479424.1:n.564G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.286+70740C>T
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5892
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys1210Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

21-35208911-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35208911
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35208911
    reference: chr 21
allele count: 10
allele frequency: 8.272530236098013e-5
allele num: 120882
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.3621C>G
  hgvsp: ENST00000437442.2:c.3621C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.*406C>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.3621C>G
  hgvsp: ENST00000399367.3:c.3621C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000472548
  gene symbol: ITSN1
  hgvsc: ENST00000472548.1:n.452C>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.3621C>G
  hgvsp: ENST00000399352.1:c.3621C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.3408C>G
  hgvsp: ENST00000399349.1:c.3408C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.3423C>G
  hgvsp: ENST00000399355.2:c.3423C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.3636C>G
  hgvsp: ENST00000381285.4:c.3636C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000495656
  gene symbol: ITSN1
  hgvsc: ENST00000495656.1:n.452C>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.*457C>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.3636C>G
  hgvsp: ENST00000381318.3:c.3636C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.286+70734G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000489261
  gene symbol: ITSN1
  hgvsc: ENST00000489261.1:n.1025C>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000462212
  gene symbol: ITSN1
  hgvsc: ENST00000462212.1:n.1025C>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000479424
  gene symbol: ITSN1
  hgvsc: ENST00000479424.1:n.570C>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000475422
  gene symbol: ITSN1
  hgvsc: ENST00000475422.1:n.740+6862C>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.3636C>G
  hgvsp: ENST00000381291.4:c.3636C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.3510C>G
  hgvsp: ENST00000399353.1:c.3510C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15256
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr1212Thr
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

21-35208918-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35208918
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35208918
    reference: chr 21
allele count: 2
allele frequency: 1.656808655168415e-5
allele num: 120714
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.286+70727T>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.3643A>G
  hgvsp: ENSP00000370719.3:p.Met1215Val
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000472548
  gene symbol: ITSN1
  hgvsc: ENST00000472548.1:n.459A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.3643A>G
  hgvsp: ENSP00000370685.4:p.Met1215Val
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.3415A>G
  hgvsp: ENSP00000382286.1:p.Met1139Val
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000479424
  gene symbol: ITSN1
  hgvsc: ENST00000479424.1:n.577A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000462212
  gene symbol: ITSN1
  hgvsc: ENST00000462212.1:n.1032A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.*413A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.3430A>G
  hgvsp: ENSP00000382292.2:p.Met1144Val
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.3643A>G
  hgvsp: ENSP00000370691.4:p.Met1215Val
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000489261
  gene symbol: ITSN1
  hgvsc: ENST00000489261.1:n.1032A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.3628A>G
  hgvsp: ENSP00000382289.1:p.Met1210Val
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.3517A>G
  hgvsp: ENSP00000382290.1:p.Met1173Val
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.3628A>G
  hgvsp: ENSP00000382301.3:p.Met1210Val
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.*464A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.3628A>G
  hgvsp: ENSP00000387377.2:p.Met1210Val
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000495656
  gene symbol: ITSN1
  hgvsc: ENST00000495656.1:n.459A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000475422
  gene symbol: ITSN1
  hgvsc: ENST00000475422.1:n.740+6869A>G
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met1215Val
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: African
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP

21-35208932-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35208932
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35208932
    reference: chr 21
allele count: 10
allele frequency: 8.320298199487469e-5
allele num: 120188
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.3657G>T
  hgvsp: ENSP00000370691.4:p.Gln1219His
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.3642G>T
  hgvsp: ENSP00000382301.3:p.Gln1214His
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.3657G>T
  hgvsp: ENSP00000370685.4:p.Gln1219His
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.3429G>T
  hgvsp: ENSP00000382286.1:p.Gln1143His
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.3444G>T
  hgvsp: ENSP00000382292.2:p.Gln1148His
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000472548
  gene symbol: ITSN1
  hgvsc: ENST00000472548.1:n.473G>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.*427G>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000479424
  gene symbol: ITSN1
  hgvsc: ENST00000479424.1:n.591G>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000495656
  gene symbol: ITSN1
  hgvsc: ENST00000495656.1:n.473G>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.3657G>T
  hgvsp: ENSP00000370719.3:p.Gln1219His
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.3642G>T
  hgvsp: ENSP00000387377.2:p.Gln1214His
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.3642G>T
  hgvsp: ENSP00000382289.1:p.Gln1214His
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.3531G>T
  hgvsp: ENSP00000382290.1:p.Gln1177His
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000462212
  gene symbol: ITSN1
  hgvsc: ENST00000462212.1:n.1046G>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000475422
  gene symbol: ITSN1
  hgvsc: ENST00000475422.1:n.740+6883G>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000489261
  gene symbol: ITSN1
  hgvsc: ENST00000489261.1:n.1046G>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.286+70713C>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.*478G>T
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln1219His
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: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/21-35208934-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35208934
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35208934
    reference: chr 21
allele count: 1
allele frequency: 8.329723786359244e-6
allele num: 120052
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000475422
  gene symbol: ITSN1
  hgvsc: ENST00000475422.1:n.740+6885A>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.3533A>C
  hgvsp: ENSP00000382290.1:p.Gln1178Pro
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.3446A>C
  hgvsp: ENSP00000382292.2:p.Gln1149Pro
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.3644A>C
  hgvsp: ENSP00000382289.1:p.Gln1215Pro
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000489261
  gene symbol: ITSN1
  hgvsc: ENST00000489261.1:n.1048A>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.3659A>C
  hgvsp: ENSP00000370685.4:p.Gln1220Pro
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.3659A>C
  hgvsp: ENSP00000370719.3:p.Gln1220Pro
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000462212
  gene symbol: ITSN1
  hgvsc: ENST00000462212.1:n.1048A>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000495656
  gene symbol: ITSN1
  hgvsc: ENST00000495656.1:n.475A>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.*480A>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000472548
  gene symbol: ITSN1
  hgvsc: ENST00000472548.1:n.475A>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.3431A>C
  hgvsp: ENSP00000382286.1:p.Gln1144Pro
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.3644A>C
  hgvsp: ENSP00000382301.3:p.Gln1215Pro
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.3659A>C
  hgvsp: ENSP00000370691.4:p.Gln1220Pro
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000479424
  gene symbol: ITSN1
  hgvsc: ENST00000479424.1:n.593A>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.286+70711T>G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.*429A>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.3644A>C
  hgvsp: ENSP00000387377.2:p.Gln1215Pro
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gln1220Pro
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD

21-35208948-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35208948
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35208948
    reference: chr 21
allele count: 4
allele frequency: 3.35379146124694e-5
allele num: 119268
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.3646+12G>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.286+70697C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.*431+12G>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000472548
  gene symbol: ITSN1
  hgvsc: ENST00000472548.1:n.477+12G>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.3535+12G>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.3646+12G>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.3661+12G>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000495656
  gene symbol: ITSN1
  hgvsc: ENST00000495656.1:n.477+12G>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.3661+12G>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.3661+12G>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000462212
  gene symbol: ITSN1
  hgvsc: ENST00000462212.1:n.1050+12G>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000479424
  gene symbol: ITSN1
  hgvsc: ENST00000479424.1:n.595+12G>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.3433+12G>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000489261
  gene symbol: ITSN1
  hgvsc: ENST00000489261.1:n.1050+12G>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.*482+12G>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.3646+12G>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.3448+12G>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000475422
  gene symbol: ITSN1
  hgvsc: ENST00000475422.1:n.740+6899G>C
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2148
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33225
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

21-35208959-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35208959
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35208959
    reference: chr 21
allele count: 2
allele frequency: 1.690931534182181e-5
allele num: 118278
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.*482+23C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.3433+23C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.3535+23C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.3661+23C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.3646+23C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.3448+23C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.286+70686G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.*431+23C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000472548
  gene symbol: ITSN1
  hgvsc: ENST00000472548.1:n.477+23C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.3646+23C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.3646+23C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000475422
  gene symbol: ITSN1
  hgvsc: ENST00000475422.1:n.740+6910C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.3661+23C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000462212
  gene symbol: ITSN1
  hgvsc: ENST00000462212.1:n.1050+23C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000495656
  gene symbol: ITSN1
  hgvsc: ENST00000495656.1:n.477+23C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.3661+23C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000479424
  gene symbol: ITSN1
  hgvsc: ENST00000479424.1:n.595+23C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000489261
  gene symbol: ITSN1
  hgvsc: ENST00000489261.1:n.1050+23C>T
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1517
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32101
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

21-35208960-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35208960
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35208960
    reference: chr 21
allele count: 2
allele frequency: 1.691074508742855e-5
allele num: 118268
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000462212
  gene symbol: ITSN1
  hgvsc: ENST00000462212.1:n.1050+24G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.3448+24G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000475422
  gene symbol: ITSN1
  hgvsc: ENST00000475422.1:n.740+6911G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.286+70685C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.3535+24G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.3661+24G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000495656
  gene symbol: ITSN1
  hgvsc: ENST00000495656.1:n.477+24G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.*431+24G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.3433+24G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.3661+24G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.3646+24G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.3661+24G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000472548
  gene symbol: ITSN1
  hgvsc: ENST00000472548.1:n.477+24G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.3646+24G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.3646+24G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000489261
  gene symbol: ITSN1
  hgvsc: ENST00000489261.1:n.1050+24G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000479424
  gene symbol: ITSN1
  hgvsc: ENST00000479424.1:n.595+24G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.*482+24G>A
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5795
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32076
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: African
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

21-35208964-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35208964
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35208964
    reference: chr 21
allele count: 2
allele frequency: 1.697302985555952e-5
allele num: 117834
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000462212
  gene symbol: ITSN1
  hgvsc: ENST00000462212.1:n.1050+28C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.*431+28C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.3535+28C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.3646+28C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000479424
  gene symbol: ITSN1
  hgvsc: ENST00000479424.1:n.595+28C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.286+70681G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.3661+28C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000495656
  gene symbol: ITSN1
  hgvsc: ENST00000495656.1:n.477+28C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.3433+28C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.3448+28C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000489261
  gene symbol: ITSN1
  hgvsc: ENST00000489261.1:n.1050+28C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.3646+28C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.3646+28C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000475422
  gene symbol: ITSN1
  hgvsc: ENST00000475422.1:n.740+6915C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000472548
  gene symbol: ITSN1
  hgvsc: ENST00000472548.1:n.477+28C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.*482+28C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.3661+28C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.3661+28C>T
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31733
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1523
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

21-35208965-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35208965
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35208965
    reference: chr 21
allele count: 37
allele frequency: 3.143211512649303e-4
allele num: 117714
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.3646+29G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.*431+29G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000489261
  gene symbol: ITSN1
  hgvsc: ENST00000489261.1:n.1050+29G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.286+70680C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000472548
  gene symbol: ITSN1
  hgvsc: ENST00000472548.1:n.477+29G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.3448+29G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.*482+29G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.3535+29G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.3661+29G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000475422
  gene symbol: ITSN1
  hgvsc: ENST00000475422.1:n.740+6916G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.3646+29G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000495656
  gene symbol: ITSN1
  hgvsc: ENST00000495656.1:n.477+29G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.3433+29G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000479424
  gene symbol: ITSN1
  hgvsc: ENST00000479424.1:n.595+29G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.3646+29G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.3661+29G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000462212
  gene symbol: ITSN1
  hgvsc: ENST00000462212.1:n.1050+29G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.3661+29G>A
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31577
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14012
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: FS

21-35208965-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35208965
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35208965
    reference: chr 21
allele count: 1
allele frequency: 8.49516625040352e-6
allele num: 117714
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.3646+29G>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000472548
  gene symbol: ITSN1
  hgvsc: ENST00000472548.1:n.477+29G>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000495656
  gene symbol: ITSN1
  hgvsc: ENST00000495656.1:n.477+29G>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.*482+29G>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000462212
  gene symbol: ITSN1
  hgvsc: ENST00000462212.1:n.1050+29G>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.3646+29G>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000489261
  gene symbol: ITSN1
  hgvsc: ENST00000489261.1:n.1050+29G>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.3661+29G>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.286+70680C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.3661+29G>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.*431+29G>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.3535+29G>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.3433+29G>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000475422
  gene symbol: ITSN1
  hgvsc: ENST00000475422.1:n.740+6916G>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.3646+29G>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.3661+29G>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000479424
  gene symbol: ITSN1
  hgvsc: ENST00000479424.1:n.595+29G>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.3448+29G>T
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

21-35208971-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35208971
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35208971
    reference: chr 21
allele count: 1
allele frequency: 8.542189875796559e-6
allele num: 117066
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.3433+35C>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000495656
  gene symbol: ITSN1
  hgvsc: ENST00000495656.1:n.477+35C>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000472548
  gene symbol: ITSN1
  hgvsc: ENST00000472548.1:n.477+35C>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.3646+35C>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.3661+35C>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.3535+35C>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.*482+35C>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.286+70674G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.3646+35C>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.*431+35C>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.3448+35C>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.3661+35C>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.3661+35C>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000462212
  gene symbol: ITSN1
  hgvsc: ENST00000462212.1:n.1050+35C>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000489261
  gene symbol: ITSN1
  hgvsc: ENST00000489261.1:n.1050+35C>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.3646+35C>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000475422
  gene symbol: ITSN1
  hgvsc: ENST00000475422.1:n.740+6922C>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000479424
  gene symbol: ITSN1
  hgvsc: ENST00000479424.1:n.595+35C>G
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5805
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

21-35208984-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35208984
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35208984
    reference: chr 21
allele count: 7
allele frequency: 6.059451879295718e-5
allele num: 115522
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.3661+48G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.*482+48G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.286+70661C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.3646+48G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.3448+48G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.*431+48G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.3535+48G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.3646+48G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.3661+48G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000495656
  gene symbol: ITSN1
  hgvsc: ENST00000495656.1:n.477+48G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.3646+48G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000472548
  gene symbol: ITSN1
  hgvsc: ENST00000472548.1:n.477+48G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000475422
  gene symbol: ITSN1
  hgvsc: ENST00000475422.1:n.740+6935G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.3433+48G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000479424
  gene symbol: ITSN1
  hgvsc: ENST00000479424.1:n.595+48G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.3661+48G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000462212
  gene symbol: ITSN1
  hgvsc: ENST00000462212.1:n.1050+48G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000489261
  gene symbol: ITSN1
  hgvsc: ENST00000489261.1:n.1050+48G>A
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29480
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2710
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQ

21-35208984-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35208984
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35208984
    reference: chr 21
allele count: 1
allele frequency: 8.656359827565313e-6
allele num: 115522
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.*431+48G>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.3646+48G>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000495656
  gene symbol: ITSN1
  hgvsc: ENST00000495656.1:n.477+48G>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.3661+48G>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.3433+48G>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.3448+48G>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.3661+48G>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.3535+48G>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000462212
  gene symbol: ITSN1
  hgvsc: ENST00000462212.1:n.1050+48G>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000472548
  gene symbol: ITSN1
  hgvsc: ENST00000472548.1:n.477+48G>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.3646+48G>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.3661+48G>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.3646+48G>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.286+70661C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000475422
  gene symbol: ITSN1
  hgvsc: ENST00000475422.1:n.740+6935G>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000489261
  gene symbol: ITSN1
  hgvsc: ENST00000489261.1:n.1050+48G>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000479424
  gene symbol: ITSN1
  hgvsc: ENST00000479424.1:n.595+48G>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.*482+48G>T
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13832
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

21-35209244-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35209244
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35209244
    reference: chr 21
allele count: 1
allele frequency: 8.252459232851389e-6
allele num: 121176
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.286+70401C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000462212
  gene symbol: ITSN1
  hgvsc: ENST00000462212.1:n.1051-47G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.3661+308G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.3661+308G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.*431+308G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.3647-47G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.3536-47G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000495656
  gene symbol: ITSN1
  hgvsc: ENST00000495656.1:n.477+308G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.*483-47G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.3662-47G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.3646+308G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000472548
  gene symbol: ITSN1
  hgvsc: ENST00000472548.1:n.478-47G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.3646+308G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000479424
  gene symbol: ITSN1
  hgvsc: ENST00000479424.1:n.596-47G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000475422
  gene symbol: ITSN1
  hgvsc: ENST00000475422.1:n.740+7195G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.3434-47G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.3449-47G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000489261
  gene symbol: ITSN1
  hgvsc: ENST00000489261.1:n.1050+308G>A
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3588
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4026
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

21-35209244-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35209244
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35209244
    reference: chr 21
allele count: 1
allele frequency: 8.252459232851389e-6
allele num: 121176
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.*483-47G>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000495656
  gene symbol: ITSN1
  hgvsc: ENST00000495656.1:n.477+308G>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.3449-47G>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000475422
  gene symbol: ITSN1
  hgvsc: ENST00000475422.1:n.740+7195G>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000472548
  gene symbol: ITSN1
  hgvsc: ENST00000472548.1:n.478-47G>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.3434-47G>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.3646+308G>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.3661+308G>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.3647-47G>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000462212
  gene symbol: ITSN1
  hgvsc: ENST00000462212.1:n.1051-47G>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.3646+308G>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000479424
  gene symbol: ITSN1
  hgvsc: ENST00000479424.1:n.596-47G>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.3536-47G>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.3662-47G>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000489261
  gene symbol: ITSN1
  hgvsc: ENST00000489261.1:n.1050+308G>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.3661+308G>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.*431+308G>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.286+70401C>A
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4451
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4406
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum

21-35209256-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35209256
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35209256
    reference: chr 21
allele count: 1
allele frequency: 8.252050634582693e-6
allele num: 121182
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000475422
  gene symbol: ITSN1
  hgvsc: ENST00000475422.1:n.740+7207G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.3647-35G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.3536-35G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.3661+320G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.*483-35G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.3662-35G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.3449-35G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.3661+320G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.3434-35G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000472548
  gene symbol: ITSN1
  hgvsc: ENST00000472548.1:n.478-35G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.3646+320G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000495656
  gene symbol: ITSN1
  hgvsc: ENST00000495656.1:n.477+320G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.*431+320G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.286+70389C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.3646+320G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000489261
  gene symbol: ITSN1
  hgvsc: ENST00000489261.1:n.1050+320G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000479424
  gene symbol: ITSN1
  hgvsc: ENST00000479424.1:n.596-35G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000462212
  gene symbol: ITSN1
  hgvsc: ENST00000462212.1:n.1051-35G>A
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4381
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

21-35209260-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35209260
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35209260
    reference: chr 21
allele count: 1
allele frequency: 8.250688932525866e-6
allele num: 121202
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.3646+324T>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.286+70385A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000462212
  gene symbol: ITSN1
  hgvsc: ENST00000462212.1:n.1051-31T>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.3434-31T>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000475422
  gene symbol: ITSN1
  hgvsc: ENST00000475422.1:n.740+7211T>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.3662-31T>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.*483-31T>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.3449-31T>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.3647-31T>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.3536-31T>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.3661+324T>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000489261
  gene symbol: ITSN1
  hgvsc: ENST00000489261.1:n.1050+324T>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000495656
  gene symbol: ITSN1
  hgvsc: ENST00000495656.1:n.477+324T>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.*431+324T>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.3646+324T>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000479424
  gene symbol: ITSN1
  hgvsc: ENST00000479424.1:n.596-31T>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000472548
  gene symbol: ITSN1
  hgvsc: ENST00000472548.1:n.478-31T>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.3661+324T>G
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 4453
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3588
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4381
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

21-35209267-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35209267
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35209267
    reference: chr 21
allele count: 2
allele frequency: 1.650110557407346e-5
allele num: 121204
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000495656
  gene symbol: ITSN1
  hgvsc: ENST00000495656.1:n.477+331G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000462212
  gene symbol: ITSN1
  hgvsc: ENST00000462212.1:n.1051-24G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.3449-24G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000479424
  gene symbol: ITSN1
  hgvsc: ENST00000479424.1:n.596-24G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.3647-24G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.3646+331G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.3661+331G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.286+70378C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.*431+331G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.3662-24G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000489261
  gene symbol: ITSN1
  hgvsc: ENST00000489261.1:n.1050+331G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000472548
  gene symbol: ITSN1
  hgvsc: ENST00000472548.1:n.478-24G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.*483-24G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.3536-24G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000475422
  gene symbol: ITSN1
  hgvsc: ENST00000475422.1:n.740+7218G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.3646+331G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.3434-24G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.3661+331G>A
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4381
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3336
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2512
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

21-35209280-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35209280
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35209280
    reference: chr 21
allele count: 1
allele frequency: 8.247422680412371e-6
allele num: 121250
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000472548
  gene symbol: ITSN1
  hgvsc: ENST00000472548.1:n.478-11C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000495656
  gene symbol: ITSN1
  hgvsc: ENST00000495656.1:n.477+344C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000479424
  gene symbol: ITSN1
  hgvsc: ENST00000479424.1:n.596-11C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.3536-11C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.*431+344C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.*483-11C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.286+70365G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.3662-11C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.3449-11C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000475422
  gene symbol: ITSN1
  hgvsc: ENST00000475422.1:n.740+7231C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.3661+344C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000489261
  gene symbol: ITSN1
  hgvsc: ENST00000489261.1:n.1050+344C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.3647-11C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000462212
  gene symbol: ITSN1
  hgvsc: ENST00000462212.1:n.1051-11C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.3646+344C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.3646+344C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.3434-11C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.3661+344C>T
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3336
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4453
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD

21-35209293-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35209293
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35209293
    reference: chr 21
allele count: 1
allele frequency: 8.244430886935875e-6
allele num: 121294
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.*1A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.3661+357A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000475422
  gene symbol: ITSN1
  hgvsc: ENST00000475422.1:n.740+7244A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000479424
  gene symbol: ITSN1
  hgvsc: ENST00000479424.1:n.598A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.*1A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.286+70352T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.*431+357A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.*1A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.3661+357A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.3646+357A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.*485A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.3646+357A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000462212
  gene symbol: ITSN1
  hgvsc: ENST00000462212.1:n.1053A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.*1A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.*1A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000495656
  gene symbol: ITSN1
  hgvsc: ENST00000495656.1:n.477+357A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000489261
  gene symbol: ITSN1
  hgvsc: ENST00000489261.1:n.1050+357A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000472548
  gene symbol: ITSN1
  hgvsc: ENST00000472548.1:n.480A>G
  variant of: http://identifiers.org/hgnc/6183
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2512
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4453
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: n.1053A>G
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD

21-35209298-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35209298
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35209298
    reference: chr 21
allele count: 7
allele frequency: 5.77062586559388e-5
allele num: 121304
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.*6A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000495656
  gene symbol: ITSN1
  hgvsc: ENST00000495656.1:n.477+362A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.*6A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.*431+362A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000462212
  gene symbol: ITSN1
  hgvsc: ENST00000462212.1:n.1058A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000489261
  gene symbol: ITSN1
  hgvsc: ENST00000489261.1:n.1050+362A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.*6A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000479424
  gene symbol: ITSN1
  hgvsc: ENST00000479424.1:n.603A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.3646+362A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.*490A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.3646+362A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.*6A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.3661+362A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000472548
  gene symbol: ITSN1
  hgvsc: ENST00000472548.1:n.485A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.*6A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.3661+362A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.286+70347T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000475422
  gene symbol: ITSN1
  hgvsc: ENST00000475422.1:n.740+7249A>G
  variant of: http://identifiers.org/hgnc/6183
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1940
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3336
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3849
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

21-35209299-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35209299
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35209299
    reference: chr 21
allele count: 1
allele frequency: 8.243615319934711e-6
allele num: 121306
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.*491T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.3646+363T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.*7T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000462212
  gene symbol: ITSN1
  hgvsc: ENST00000462212.1:n.1059T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000479424
  gene symbol: ITSN1
  hgvsc: ENST00000479424.1:n.604T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000475422
  gene symbol: ITSN1
  hgvsc: ENST00000475422.1:n.740+7250T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.3661+363T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.*7T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.3661+363T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.*7T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.*7T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000495656
  gene symbol: ITSN1
  hgvsc: ENST00000495656.1:n.477+363T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.*7T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000472548
  gene symbol: ITSN1
  hgvsc: ENST00000472548.1:n.486T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.286+70346A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000489261
  gene symbol: ITSN1
  hgvsc: ENST00000489261.1:n.1050+363T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.3646+363T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.*431+363T>C
  variant of: http://identifiers.org/hgnc/6183
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4408
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1940
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

21-35209300-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35209300
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35209300
    reference: chr 21
allele count: 2
allele frequency: 1.648777431534517e-5
allele num: 121302
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.*8G>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.*8G>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.3646+364G>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.*492G>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000462212
  gene symbol: ITSN1
  hgvsc: ENST00000462212.1:n.1060G>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.*8G>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.3646+364G>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000495656
  gene symbol: ITSN1
  hgvsc: ENST00000495656.1:n.477+364G>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000472548
  gene symbol: ITSN1
  hgvsc: ENST00000472548.1:n.487G>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.*8G>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.*431+364G>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000479424
  gene symbol: ITSN1
  hgvsc: ENST00000479424.1:n.605G>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000489261
  gene symbol: ITSN1
  hgvsc: ENST00000489261.1:n.1050+364G>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.*8G>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.3661+364G>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.286+70345C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000475422
  gene symbol: ITSN1
  hgvsc: ENST00000475422.1:n.740+7251G>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.3661+364G>C
  variant of: http://identifiers.org/hgnc/6183
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19915
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3849
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1938
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

21-35209304-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35209304
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35209304
    reference: chr 21
allele count: 2
allele frequency: 1.648424106554134e-5
allele num: 121328
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000462212
  gene symbol: ITSN1
  hgvsc: ENST00000462212.1:n.1064T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.*12T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.*12T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.286+70341A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000479424
  gene symbol: ITSN1
  hgvsc: ENST00000479424.1:n.609T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000495656
  gene symbol: ITSN1
  hgvsc: ENST00000495656.1:n.477+368T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.3661+368T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.*12T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.3646+368T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000489261
  gene symbol: ITSN1
  hgvsc: ENST00000489261.1:n.1050+368T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.*431+368T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.*12T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000472548
  gene symbol: ITSN1
  hgvsc: ENST00000472548.1:n.491T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.*12T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000475422
  gene symbol: ITSN1
  hgvsc: ENST00000475422.1:n.740+7255T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.*496T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.3646+368T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.3661+368T>C
  variant of: http://identifiers.org/hgnc/6183
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1938
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4452
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4380
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD

21-35209308-T-TC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35209308
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35209309
    reference: chr 21
allele count: 3
allele frequency: 2.472880741204788e-5
allele num: 121316
alternate allele: TC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000489261
  gene symbol: ITSN1
  hgvsc: ENST00000489261.1:n.1050+379dupC
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.3646+379dupC
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.3661+379dupC
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.*23dupC
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.3646+379dupC
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000472548
  gene symbol: ITSN1
  hgvsc: ENST00000472548.1:n.502dupC
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.*23dupC
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000462212
  gene symbol: ITSN1
  hgvsc: ENST00000462212.1:n.1075dupC
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.*23dupC
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000475422
  gene symbol: ITSN1
  hgvsc: ENST00000475422.1:n.740+7266dupC
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.*431+379dupC
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.*23dupC
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.*507dupC
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.3661+379dupC
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000479424
  gene symbol: ITSN1
  hgvsc: ENST00000479424.1:n.620dupC
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.*23dupC
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000495656
  gene symbol: ITSN1
  hgvsc: ENST00000495656.1:n.477+379dupC
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.286+70336dupG
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4452
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2516
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: VQSLOD

21-35209308-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35209308
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35209307
    reference: chr 21
allele count: 7
allele frequency: 5.770055062811171e-5
allele num: 121316
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.*23delC
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.3661+379delC
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.*23delC
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.*507delC
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.286+70336delG
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000462212
  gene symbol: ITSN1
  hgvsc: ENST00000462212.1:n.1075delC
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.*23delC
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.3661+379delC
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000475422
  gene symbol: ITSN1
  hgvsc: ENST00000475422.1:n.740+7266delC
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.*23delC
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.3646+379delC
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.*23delC
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000472548
  gene symbol: ITSN1
  hgvsc: ENST00000472548.1:n.502delC
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000495656
  gene symbol: ITSN1
  hgvsc: ENST00000495656.1:n.477+379delC
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.3646+379delC
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000489261
  gene symbol: ITSN1
  hgvsc: ENST00000489261.1:n.1050+379delC
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000479424
  gene symbol: ITSN1
  hgvsc: ENST00000479424.1:n.620delC
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.*431+379delC
  variant of: http://identifiers.org/hgnc/6183
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19918
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4027
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3339
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: TC
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP

21-35209309-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35209309
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35209309
    reference: chr 21
allele count: 1
allele frequency: 8.245382585751979e-6
allele num: 121280
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.*17C>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.*17C>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.*501C>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000495656
  gene symbol: ITSN1
  hgvsc: ENST00000495656.1:n.477+373C>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.*17C>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000462212
  gene symbol: ITSN1
  hgvsc: ENST00000462212.1:n.1069C>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000472548
  gene symbol: ITSN1
  hgvsc: ENST00000472548.1:n.496C>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000479424
  gene symbol: ITSN1
  hgvsc: ENST00000479424.1:n.614C>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.*431+373C>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.3661+373C>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.3646+373C>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.286+70336G>C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.*17C>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.*17C>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000475422
  gene symbol: ITSN1
  hgvsc: ENST00000475422.1:n.740+7260C>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000489261
  gene symbol: ITSN1
  hgvsc: ENST00000489261.1:n.1050+373C>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.3661+373C>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.3646+373C>G
  variant of: http://identifiers.org/hgnc/6183
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1586
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3852
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/21-35209313-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35209313
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35209313
    reference: chr 21
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000462212
  gene symbol: ITSN1
  hgvsc: ENST00000462212.1:n.1073C>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000495656
  gene symbol: ITSN1
  hgvsc: ENST00000495656.1:n.477+377C>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.3661+377C>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.*21C>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.*21C>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.*21C>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000475422
  gene symbol: ITSN1
  hgvsc: ENST00000475422.1:n.740+7264C>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.*21C>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000472548
  gene symbol: ITSN1
  hgvsc: ENST00000472548.1:n.500C>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.*505C>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000479424
  gene symbol: ITSN1
  hgvsc: ENST00000479424.1:n.618C>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.*21C>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.286+70332G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.3646+377C>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.*431+377C>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000489261
  gene symbol: ITSN1
  hgvsc: ENST00000489261.1:n.1050+377C>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.3661+377C>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.3646+377C>A
  variant of: http://identifiers.org/hgnc/6183
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3850
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/21-35209314-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35209314
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35209314
    reference: chr 21
allele count: 2
allele frequency: 1.647907980818351e-5
allele num: 121366
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.*431+378C>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.*22C>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.*22C>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.*22C>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.*22C>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.3646+378C>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000462212
  gene symbol: ITSN1
  hgvsc: ENST00000462212.1:n.1074C>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000472548
  gene symbol: ITSN1
  hgvsc: ENST00000472548.1:n.501C>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000489261
  gene symbol: ITSN1
  hgvsc: ENST00000489261.1:n.1050+378C>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.*506C>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000479424
  gene symbol: ITSN1
  hgvsc: ENST00000479424.1:n.619C>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.3646+378C>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.3661+378C>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.*22C>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000495656
  gene symbol: ITSN1
  hgvsc: ENST00000495656.1:n.477+378C>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.286+70331G>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.3661+378C>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000475422
  gene symbol: ITSN1
  hgvsc: ENST00000475422.1:n.740+7265C>A
  variant of: http://identifiers.org/hgnc/6183
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4380
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3850
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD

21-35209314-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35209314
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35209314
    reference: chr 21
allele count: 2
allele frequency: 1.647907980818351e-5
allele num: 121366
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000475422
  gene symbol: ITSN1
  hgvsc: ENST00000475422.1:n.740+7265C>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.*506C>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.*22C>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.286+70331G>C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.*22C>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.*22C>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.*22C>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.3661+378C>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.3661+378C>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000472548
  gene symbol: ITSN1
  hgvsc: ENST00000472548.1:n.501C>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000462212
  gene symbol: ITSN1
  hgvsc: ENST00000462212.1:n.1074C>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000495656
  gene symbol: ITSN1
  hgvsc: ENST00000495656.1:n.477+378C>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.*22C>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.3646+378C>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.3646+378C>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000479424
  gene symbol: ITSN1
  hgvsc: ENST00000479424.1:n.619C>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.*431+378C>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl transcript: ENST00000489261
  gene symbol: ITSN1
  hgvsc: ENST00000489261.1:n.1050+378C>G
  variant of: http://identifiers.org/hgnc/6183
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3850
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
reference allele: C

GenotypeDepth
all individuals: 4737
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 454
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 158
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 488
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5048
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 32334
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2127
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 56
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12413
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 95
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 124
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 32
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1372
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 45
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 780
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 388
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3275
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4829
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 433
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2452
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 880
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1012
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 840
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7805
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31959
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2186
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2726
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.586344744439862e-5
allele num: 63038
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9932
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10782
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6472
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11308
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

QD
type: SiteQuality
SIO_000300: 1.619e1

VQSLOD
type: SiteQuality
SIO_000300: 2.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.421e0

DP
type: SiteQuality
SIO_000300: 1.414658e6

MQRankSum
type: SiteQuality
SIO_000300: -3.82e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.4e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

GenotypeDepth
all individuals: 124
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 428
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1420
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1517
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 33074
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 559
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13165
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 56
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3851
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 45
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 158
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 310
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 209
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 67
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5314
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 125
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 32
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 95
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 107
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2305
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 559
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 636
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2841
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3945
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 899
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1042
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8093
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3410
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33236
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2463
bin: 9.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10138
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11432
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6548
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64040
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.717327837884252e-4
allele num: 11646
num of homozygotes: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8568
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 826
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -8.34e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.75e-2

DP
type: SiteQuality
SIO_000300: 1.445878e6

QD
type: SiteQuality
SIO_000300: 3.02e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
all individuals: 46
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 185
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1421
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3718
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 33141
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13264
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 32
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 67
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 124
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1480
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 125
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 424
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5342
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 107
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 95
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 45
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 310
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 56
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 561
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 159
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 114
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 617
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2309
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1042
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3798
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8118
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 905
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2857
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 313
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33279
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2468
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3418
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 546
bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.332089552238806e-4
allele num: 8576
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11446
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11762
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10156
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64152
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

FS
type: SiteQuality
SIO_000300: 9.907999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.8e0

MQRankSum
type: SiteQuality
SIO_000300: 5.71e-1

DP
type: SiteQuality
SIO_000300: 1.449581e6

MQ
type: SiteQuality
SIO_000300: 5.916e1

QD
type: SiteQuality
SIO_000300: 1.094e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.341e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e0

GenotypeDepth
all individuals: 502
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 95
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 107
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 109
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 570
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 125
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 124
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 45
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 33275
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3145
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 32
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1444
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1351
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 56
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13651
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3442
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 331
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2323
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3234
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 532
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8204
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2875
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 501
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33670
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2474
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1046
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 910
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64596
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 8.069722401549386e-5
allele num: 12392
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10212
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.53e-1

QD
type: SiteQuality
SIO_000300: 4.53e0

VQSLOD
type: SiteQuality
SIO_000300: -2.107e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.464604e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.4e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.61e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
all individuals: 45
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2712
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 312
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 416
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 67
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 33763
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1155
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1456
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 73
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 124
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 96
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 32
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 572
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 56
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13832
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 917
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 441
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 448
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2816
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 34459
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3489
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GenotypeQuality
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GenotypeQuality
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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: 3
allele frequency: 2.316602316602316e-4
allele num: 12950
num of homozygotes: 0

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10274
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64976
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -8.77e-1

QD
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FS
type: SiteQuality
SIO_000300: 6.048e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.64e-1

VQSLOD
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 8.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.6e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.25e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

DP
type: SiteQuality
SIO_000300: 1.475771e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10330
num of homozygotes: 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 count: 1
allele frequency: 8.674531575294934e-5
allele num: 11528
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.583511581005928e-5
allele num: 65452
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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.84e-1

InbreedingCoeff
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SIO_000300: 2.3e-3

MQ
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SIO_000300: 5.943e1

ReadPosRankSum
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SIO_000300: -2.26e-1

BaseQRankSum
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DP
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SIO_000300: 1.491164e6

FS
type: SiteQuality
SIO_000300: 9.663e0

MQRankSum
type: SiteQuality
SIO_000300: 2.1e-2

VQSLOD
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SIO_000300: 2.13e-1

QD
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SIO_000300: 1.239e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14402
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65754
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: 1
allele frequency: 1.158748551564311e-4
allele num: 8630
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10352
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.17e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.885e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.26e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.76e-1

MQ
type: SiteQuality
SIO_000300: 5.903e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 8.119999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.407e0

DP
type: SiteQuality
SIO_000300: 1.50333e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 32
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 36005
bin: 6.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.520034048762692e-5
allele num: 65788
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.656237929702588e-5
allele num: 10356
num of homozygotes: 0

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

South Asian
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allele count: 1
allele frequency: 6.87757909215956e-5
allele num: 14540
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

FS
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SIO_000300: 2.682e0

BaseQRankSum
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SIO_000300: -5.19e-1

ClippingRankSum
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SIO_000300: 5.0e-2

MQ
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SIO_000300: 5.957e1

VQSLOD
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MQRankSum
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QD
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SIO_000300: 1.483e1

ReadPosRankSum
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SIO_000300: 5.21e-1

DP
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SIO_000300: 1.50573e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 19

GenotypeQuality
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variant carriers: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.634994206257242e-4
allele num: 8630
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.035361966914554e-5
allele num: 65890
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.35814206165965e-4
allele num: 14726
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.664009703690868e-5
allele num: 11542
num of homozygotes: 0

African
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allele count: 10
allele frequency: 9.648784253184099e-4
allele num: 10364
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
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InbreedingCoeff
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FS
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ClippingRankSum
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MQRankSum
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DP
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QD
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VQSLOD
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BaseQRankSum
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MQ
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ReadPosRankSum
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SIO_000300: 3.7e-1

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

Other
type: Population
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10364
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.033980582524272e-5
allele num: 65920
num of homozygotes: 0

DP
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ReadPosRankSum
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BaseQRankSum
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MQ
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VQSLOD
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QD
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ClippingRankSum
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InbreedingCoeff
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FS
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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African
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European (Non-Finnish)
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East Asian
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South Asian
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Other
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European (Finnish)
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FS
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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MQ
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ReadPosRankSum
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VQSLOD
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QD
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BaseQRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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European (Finnish)
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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 num: 66206
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MQ
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BaseQRankSum
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MQRankSum
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DP
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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FS
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ClippingRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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South Asian
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Latino
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European (Non-Finnish)
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European (Finnish)
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African
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MQ
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MQRankSum
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ClippingRankSum
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QD
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ReadPosRankSum
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InbreedingCoeff
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DP
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FS
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VQSLOD
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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Other
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European (Finnish)
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South Asian
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East Asian
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African
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InbreedingCoeff
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QD
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FS
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DP
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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MQRankSum
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MQ
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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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African
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East Asian
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Latino
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European (Finnish)
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South Asian
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European (Non-Finnish)
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Other
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FS
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VQSLOD
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DP
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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QD
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MQ
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InbreedingCoeff
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MQRankSum
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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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East Asian
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African
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ClippingRankSum
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DP
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MQRankSum
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VQSLOD
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BaseQRankSum
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MQ
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ReadPosRankSum
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FS
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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South Asian
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East Asian
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FS
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VQSLOD
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BaseQRankSum
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MQ
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InbreedingCoeff
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MQRankSum
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DP
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ClippingRankSum
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ReadPosRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Finnish)
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European (Non-Finnish)
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Other
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African
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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DP
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QD
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FS
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MQ
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ClippingRankSum
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VQSLOD
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Latino
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South Asian
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Other
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European (Finnish)
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East Asian
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QD
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MQRankSum
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MQ
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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FS
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DP
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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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Latino
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East Asian
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African
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South Asian
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European (Finnish)
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Other
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FS
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DP
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MQ
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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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European (Non-Finnish)
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East Asian
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African
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South Asian
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MQ
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MQRankSum
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BaseQRankSum
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FS
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InbreedingCoeff
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DP
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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South Asian
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European (Finnish)
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East Asian
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MQRankSum
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DP
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ClippingRankSum
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ReadPosRankSum
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FS
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QD
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InbreedingCoeff
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VQSLOD
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MQ
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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European (Finnish)
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Other
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South Asian
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African
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ReadPosRankSum
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InbreedingCoeff
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FS
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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VQSLOD
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QD
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DP
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MQ
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GenotypeDepth
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variant carriers: 1

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

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

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

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