1-95303362-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95303362
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 95303362
    reference: chr 1
allele count: 1
allele frequency: 8.242664029014178e-6
allele num: 121320
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000431836
  ensembl transcript: ENST00000529450
  gene symbol: SLC44A3
  hgvsc: ENST00000529450.1:c.509A>G
  hgvsp: ENSP00000431836.1:p.His170Arg
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000436661
  ensembl transcript: ENST00000532427
  gene symbol: SLC44A3
  hgvsc: ENST00000532427.1:c.365A>G
  hgvsp: ENSP00000436661.1:p.His122Arg
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143036
  ensembl transcript: ENST00000530397
  gene symbol: SLC44A3
  hgvsc: ENST00000530397.1:n.299A>G
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000432789
  ensembl transcript: ENST00000467909
  gene symbol: SLC44A3
  hgvsc: ENST00000467909.1:c.461A>G
  hgvsp: ENSP00000432789.1:p.His154Arg
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000389143
  ensembl transcript: ENST00000446120
  gene symbol: SLC44A3
  hgvsc: ENST00000446120.2:c.497A>G
  hgvsp: ENSP00000389143.2:p.His166Arg
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000433641
  ensembl transcript: ENST00000527077
  gene symbol: SLC44A3
  hgvsc: ENST00000527077.1:c.401A>G
  hgvsp: ENSP00000433641.1:p.His134Arg
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000434457
  ensembl transcript: ENST00000475883
  gene symbol: SLC44A3
  hgvsc: ENST00000475883.1:c.*328A>G
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000410832
  ensembl transcript: ENST00000422520
  gene symbol: SLC44A3
  hgvsc: ENST00000422520.2:c.461A>G
  hgvsp: ENSP00000410832.2:p.His154Arg
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000271227
  ensembl transcript: ENST00000271227
  gene symbol: SLC44A3
  hgvsc: ENST00000271227.6:c.605A>G
  hgvsp: ENSP00000271227.6:p.His202Arg
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237416
  ensembl transcript: ENST00000422162
  gene symbol: RP11-465K1.2
  hgvsc: ENST00000422162.1:n.542-903T>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10290
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35919
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2247
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5674
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34198
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
hgvs: p.His202Arg
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: DP

1-95303364-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95303364
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 95303364
    reference: chr 1
allele count: 2
allele frequency: 1.648532805802836e-5
allele num: 121320
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143036
  ensembl transcript: ENST00000530397
  gene symbol: SLC44A3
  hgvsc: ENST00000530397.1:n.301C>T
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000436661
  ensembl transcript: ENST00000532427
  gene symbol: SLC44A3
  hgvsc: ENST00000532427.1:c.367C>T
  hgvsp: ENSP00000436661.1:p.Arg123Ter
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000431836
  ensembl transcript: ENST00000529450
  gene symbol: SLC44A3
  hgvsc: ENST00000529450.1:c.511C>T
  hgvsp: ENSP00000431836.1:p.Arg171Ter
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000389143
  ensembl transcript: ENST00000446120
  gene symbol: SLC44A3
  hgvsc: ENST00000446120.2:c.499C>T
  hgvsp: ENSP00000389143.2:p.Arg167Ter
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000433641
  ensembl transcript: ENST00000527077
  gene symbol: SLC44A3
  hgvsc: ENST00000527077.1:c.403C>T
  hgvsp: ENSP00000433641.1:p.Arg135Ter
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000434457
  ensembl transcript: ENST00000475883
  gene symbol: SLC44A3
  hgvsc: ENST00000475883.1:c.*330C>T
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000432789
  ensembl transcript: ENST00000467909
  gene symbol: SLC44A3
  hgvsc: ENST00000467909.1:c.463C>T
  hgvsp: ENSP00000432789.1:p.Arg155Ter
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000271227
  ensembl transcript: ENST00000271227
  gene symbol: SLC44A3
  hgvsc: ENST00000271227.6:c.607C>T
  hgvsp: ENSP00000271227.6:p.Arg203Ter
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000410832
  ensembl transcript: ENST00000422520
  gene symbol: SLC44A3
  hgvsc: ENST00000422520.2:c.463C>T
  hgvsp: ENSP00000410832.2:p.Arg155Ter
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237416
  ensembl transcript: ENST00000422162
  gene symbol: RP11-465K1.2
  hgvsc: ENST00000422162.1:n.542-905G>A
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35918
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5676
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2246
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10286
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8155
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg203Ter
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD

1-95303365-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95303365
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 95303365
    reference: chr 1
allele count: 2
allele frequency: 1.648559982854976e-5
allele num: 121318
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143036
  ensembl transcript: ENST00000530397
  gene symbol: SLC44A3
  hgvsc: ENST00000530397.1:n.302G>A
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000410832
  ensembl transcript: ENST00000422520
  gene symbol: SLC44A3
  hgvsc: ENST00000422520.2:c.464G>A
  hgvsp: ENSP00000410832.2:p.Arg155Gln
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000436661
  ensembl transcript: ENST00000532427
  gene symbol: SLC44A3
  hgvsc: ENST00000532427.1:c.368G>A
  hgvsp: ENSP00000436661.1:p.Arg123Gln
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000389143
  ensembl transcript: ENST00000446120
  gene symbol: SLC44A3
  hgvsc: ENST00000446120.2:c.500G>A
  hgvsp: ENSP00000389143.2:p.Arg167Gln
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000431836
  ensembl transcript: ENST00000529450
  gene symbol: SLC44A3
  hgvsc: ENST00000529450.1:c.512G>A
  hgvsp: ENSP00000431836.1:p.Arg171Gln
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237416
  ensembl transcript: ENST00000422162
  gene symbol: RP11-465K1.2
  hgvsc: ENST00000422162.1:n.542-906C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000433641
  ensembl transcript: ENST00000527077
  gene symbol: SLC44A3
  hgvsc: ENST00000527077.1:c.404G>A
  hgvsp: ENSP00000433641.1:p.Arg135Gln
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000432789
  ensembl transcript: ENST00000467909
  gene symbol: SLC44A3
  hgvsc: ENST00000467909.1:c.464G>A
  hgvsp: ENSP00000432789.1:p.Arg155Gln
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000271227
  ensembl transcript: ENST00000271227
  gene symbol: SLC44A3
  hgvsc: ENST00000271227.6:c.608G>A
  hgvsp: ENSP00000271227.6:p.Arg203Gln
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000434457
  ensembl transcript: ENST00000475883
  gene symbol: SLC44A3
  hgvsc: ENST00000475883.1:c.*331G>A
  variant of: http://identifiers.org/hgnc/28689
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5678
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35912
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2246
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10288
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg203Gln
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQRankSum

1-95303376-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95303376
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 95303376
    reference: chr 1
allele count: 1
allele frequency: 8.246062505153789e-6
allele num: 121270
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000271227
  ensembl transcript: ENST00000271227
  gene symbol: SLC44A3
  hgvsc: ENST00000271227.6:c.619G>C
  hgvsp: ENSP00000271227.6:p.Gly207Arg
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237416
  ensembl transcript: ENST00000422162
  gene symbol: RP11-465K1.2
  hgvsc: ENST00000422162.1:n.542-917C>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000436661
  ensembl transcript: ENST00000532427
  gene symbol: SLC44A3
  hgvsc: ENST00000532427.1:c.379G>C
  hgvsp: ENSP00000436661.1:p.Gly127Arg
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000434457
  ensembl transcript: ENST00000475883
  gene symbol: SLC44A3
  hgvsc: ENST00000475883.1:c.*342G>C
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143036
  ensembl transcript: ENST00000530397
  gene symbol: SLC44A3
  hgvsc: ENST00000530397.1:n.313G>C
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000433641
  ensembl transcript: ENST00000527077
  gene symbol: SLC44A3
  hgvsc: ENST00000527077.1:c.415G>C
  hgvsp: ENSP00000433641.1:p.Gly139Arg
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000410832
  ensembl transcript: ENST00000422520
  gene symbol: SLC44A3
  hgvsc: ENST00000422520.2:c.475G>C
  hgvsp: ENSP00000410832.2:p.Gly159Arg
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000432789
  ensembl transcript: ENST00000467909
  gene symbol: SLC44A3
  hgvsc: ENST00000467909.1:c.475G>C
  hgvsp: ENSP00000432789.1:p.Gly159Arg
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000389143
  ensembl transcript: ENST00000446120
  gene symbol: SLC44A3
  hgvsc: ENST00000446120.2:c.511G>C
  hgvsp: ENSP00000389143.2:p.Gly171Arg
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000431836
  ensembl transcript: ENST00000529450
  gene symbol: SLC44A3
  hgvsc: ENST00000529450.1:c.523G>C
  hgvsp: ENSP00000431836.1:p.Gly175Arg
  variant of: http://identifiers.org/hgnc/28689
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10290
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2246
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35867
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5676
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1171
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly207Arg
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: African
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ

1-95303384-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95303384
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 95303384
    reference: chr 1
allele count: 1
allele frequency: 8.252050634582693e-6
allele num: 121182
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143036
  ensembl transcript: ENST00000530397
  gene symbol: SLC44A3
  hgvsc: ENST00000530397.1:n.321G>A
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000434457
  ensembl transcript: ENST00000475883
  gene symbol: SLC44A3
  hgvsc: ENST00000475883.1:c.*350G>A
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000431836
  ensembl transcript: ENST00000529450
  gene symbol: SLC44A3
  hgvsc: ENST00000529450.1:c.531G>A
  hgvsp: ENSP00000431836.1:p.Met177Ile
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000389143
  ensembl transcript: ENST00000446120
  gene symbol: SLC44A3
  hgvsc: ENST00000446120.2:c.519G>A
  hgvsp: ENSP00000389143.2:p.Met173Ile
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000432789
  ensembl transcript: ENST00000467909
  gene symbol: SLC44A3
  hgvsc: ENST00000467909.1:c.483G>A
  hgvsp: ENSP00000432789.1:p.Met161Ile
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000436661
  ensembl transcript: ENST00000532427
  gene symbol: SLC44A3
  hgvsc: ENST00000532427.1:c.387G>A
  hgvsp: ENSP00000436661.1:p.Met129Ile
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000433641
  ensembl transcript: ENST00000527077
  gene symbol: SLC44A3
  hgvsc: ENST00000527077.1:c.423G>A
  hgvsp: ENSP00000433641.1:p.Met141Ile
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237416
  ensembl transcript: ENST00000422162
  gene symbol: RP11-465K1.2
  hgvsc: ENST00000422162.1:n.542-925C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000410832
  ensembl transcript: ENST00000422520
  gene symbol: SLC44A3
  hgvsc: ENST00000422520.2:c.483G>A
  hgvsp: ENSP00000410832.2:p.Met161Ile
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000271227
  ensembl transcript: ENST00000271227
  gene symbol: SLC44A3
  hgvsc: ENST00000271227.6:c.627G>A
  hgvsp: ENSP00000271227.6:p.Met209Ile
  variant of: http://identifiers.org/hgnc/28689
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35798
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5676
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10270
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2245
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Met209Ile
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: East Asian
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

1-95303386-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95303386
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 95303386
    reference: chr 1
allele count: 1
allele frequency: 8.253140319891718e-6
allele num: 121166
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000389143
  ensembl transcript: ENST00000446120
  gene symbol: SLC44A3
  hgvsc: ENST00000446120.2:c.521C>G
  hgvsp: ENSP00000389143.2:p.Ser174Trp
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000436661
  ensembl transcript: ENST00000532427
  gene symbol: SLC44A3
  hgvsc: ENST00000532427.1:c.389C>G
  hgvsp: ENSP00000436661.1:p.Ser130Trp
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000431836
  ensembl transcript: ENST00000529450
  gene symbol: SLC44A3
  hgvsc: ENST00000529450.1:c.533C>G
  hgvsp: ENSP00000431836.1:p.Ser178Trp
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000271227
  ensembl transcript: ENST00000271227
  gene symbol: SLC44A3
  hgvsc: ENST00000271227.6:c.629C>G
  hgvsp: ENSP00000271227.6:p.Ser210Trp
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000433641
  ensembl transcript: ENST00000527077
  gene symbol: SLC44A3
  hgvsc: ENST00000527077.1:c.425C>G
  hgvsp: ENSP00000433641.1:p.Ser142Trp
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000410832
  ensembl transcript: ENST00000422520
  gene symbol: SLC44A3
  hgvsc: ENST00000422520.2:c.485C>G
  hgvsp: ENSP00000410832.2:p.Ser162Trp
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237416
  ensembl transcript: ENST00000422162
  gene symbol: RP11-465K1.2
  hgvsc: ENST00000422162.1:n.542-927G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143036
  ensembl transcript: ENST00000530397
  gene symbol: SLC44A3
  hgvsc: ENST00000530397.1:n.323C>G
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000432789
  ensembl transcript: ENST00000467909
  gene symbol: SLC44A3
  hgvsc: ENST00000467909.1:c.485C>G
  hgvsp: ENSP00000432789.1:p.Ser162Trp
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000434457
  ensembl transcript: ENST00000475883
  gene symbol: SLC44A3
  hgvsc: ENST00000475883.1:c.*352C>G
  variant of: http://identifiers.org/hgnc/28689
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35774
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10267
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5683
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2248
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser210Trp
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ

1-95303387-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95303387
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 95303387
    reference: chr 1
allele count: 2
allele frequency: 1.650682557237418e-5
allele num: 121162
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000271227
  ensembl transcript: ENST00000271227
  gene symbol: SLC44A3
  hgvsc: ENST00000271227.6:c.630G>A
  hgvsp: ENST00000271227.6:c.630G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000433641
  ensembl transcript: ENST00000527077
  gene symbol: SLC44A3
  hgvsc: ENST00000527077.1:c.426G>A
  hgvsp: ENST00000527077.1:c.426G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000410832
  ensembl transcript: ENST00000422520
  gene symbol: SLC44A3
  hgvsc: ENST00000422520.2:c.486G>A
  hgvsp: ENST00000422520.2:c.486G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000436661
  ensembl transcript: ENST00000532427
  gene symbol: SLC44A3
  hgvsc: ENST00000532427.1:c.390G>A
  hgvsp: ENST00000532427.1:c.390G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000389143
  ensembl transcript: ENST00000446120
  gene symbol: SLC44A3
  hgvsc: ENST00000446120.2:c.522G>A
  hgvsp: ENST00000446120.2:c.522G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237416
  ensembl transcript: ENST00000422162
  gene symbol: RP11-465K1.2
  hgvsc: ENST00000422162.1:n.542-928C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143036
  ensembl transcript: ENST00000530397
  gene symbol: SLC44A3
  hgvsc: ENST00000530397.1:n.324G>A
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000434457
  ensembl transcript: ENST00000475883
  gene symbol: SLC44A3
  hgvsc: ENST00000475883.1:c.*353G>A
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000432789
  ensembl transcript: ENST00000467909
  gene symbol: SLC44A3
  hgvsc: ENST00000467909.1:c.486G>A
  hgvsp: ENST00000467909.1:c.486G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000431836
  ensembl transcript: ENST00000529450
  gene symbol: SLC44A3
  hgvsc: ENST00000529450.1:c.534G>A
  hgvsp: ENST00000529450.1:c.534G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28689
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35768
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5671
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10279
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2246
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3389
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2585
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser210Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

1-95303391-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95303391
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 95303391
    reference: chr 1
allele count: 1
allele frequency: 8.25722920416825e-6
allele num: 121106
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000436661
  ensembl transcript: ENST00000532427
  gene symbol: SLC44A3
  hgvsc: ENST00000532427.1:c.394A>T
  hgvsp: ENSP00000436661.1:p.Arg132Ter
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000432789
  ensembl transcript: ENST00000467909
  gene symbol: SLC44A3
  hgvsc: ENST00000467909.1:c.490A>T
  hgvsp: ENSP00000432789.1:p.Arg164Ter
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000271227
  ensembl transcript: ENST00000271227
  gene symbol: SLC44A3
  hgvsc: ENST00000271227.6:c.634A>T
  hgvsp: ENSP00000271227.6:p.Arg212Ter
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000431836
  ensembl transcript: ENST00000529450
  gene symbol: SLC44A3
  hgvsc: ENST00000529450.1:c.538A>T
  hgvsp: ENSP00000431836.1:p.Arg180Ter
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000389143
  ensembl transcript: ENST00000446120
  gene symbol: SLC44A3
  hgvsc: ENST00000446120.2:c.526A>T
  hgvsp: ENSP00000389143.2:p.Arg176Ter
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000434457
  ensembl transcript: ENST00000475883
  gene symbol: SLC44A3
  hgvsc: ENST00000475883.1:c.*357A>T
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237416
  ensembl transcript: ENST00000422162
  gene symbol: RP11-465K1.2
  hgvsc: ENST00000422162.1:n.542-932T>A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000433641
  ensembl transcript: ENST00000527077
  gene symbol: SLC44A3
  hgvsc: ENST00000527077.1:c.430A>T
  hgvsp: ENSP00000433641.1:p.Arg144Ter
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143036
  ensembl transcript: ENST00000530397
  gene symbol: SLC44A3
  hgvsc: ENST00000530397.1:n.328A>T
  variant of: http://identifiers.org/hgnc/28689
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35732
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5671
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10259
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2245
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1649
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8157
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg212Ter
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: A
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

1-95303396-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95303396
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 95303396
    reference: chr 1
allele count: 5
allele frequency: 4.131616784280024e-5
allele num: 121018
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000389143
  ensembl transcript: ENST00000446120
  gene symbol: SLC44A3
  hgvsc: ENST00000446120.2:c.531T>C
  hgvsp: ENST00000446120.2:c.531T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000432789
  ensembl transcript: ENST00000467909
  gene symbol: SLC44A3
  hgvsc: ENST00000467909.1:c.495T>C
  hgvsp: ENST00000467909.1:c.495T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000436661
  ensembl transcript: ENST00000532427
  gene symbol: SLC44A3
  hgvsc: ENST00000532427.1:c.399T>C
  hgvsp: ENST00000532427.1:c.399T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237416
  ensembl transcript: ENST00000422162
  gene symbol: RP11-465K1.2
  hgvsc: ENST00000422162.1:n.542-937A>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000431836
  ensembl transcript: ENST00000529450
  gene symbol: SLC44A3
  hgvsc: ENST00000529450.1:c.543T>C
  hgvsp: ENST00000529450.1:c.543T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143036
  ensembl transcript: ENST00000530397
  gene symbol: SLC44A3
  hgvsc: ENST00000530397.1:n.333T>C
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000434457
  ensembl transcript: ENST00000475883
  gene symbol: SLC44A3
  hgvsc: ENST00000475883.1:c.*362T>C
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000433641
  ensembl transcript: ENST00000527077
  gene symbol: SLC44A3
  hgvsc: ENST00000527077.1:c.435T>C
  hgvsp: ENST00000527077.1:c.435T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000271227
  ensembl transcript: ENST00000271227
  gene symbol: SLC44A3
  hgvsc: ENST00000271227.6:c.639T>C
  hgvsp: ENST00000271227.6:c.639T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28689
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10227
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5673
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35625
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2246
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6953
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33859
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3387
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asp213Asp
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum

http://identifiers.org/exac.variant/1-95303398-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95303398
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 95303398
    reference: chr 1
allele count: 1
allele frequency: 8.269109913008963e-6
allele num: 120932
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000389143
  ensembl transcript: ENST00000446120
  gene symbol: SLC44A3
  hgvsc: ENST00000446120.2:c.533C>A
  hgvsp: ENSP00000389143.2:p.Thr178Lys
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237416
  ensembl transcript: ENST00000422162
  gene symbol: RP11-465K1.2
  hgvsc: ENST00000422162.1:n.542-939G>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000271227
  ensembl transcript: ENST00000271227
  gene symbol: SLC44A3
  hgvsc: ENST00000271227.6:c.641C>A
  hgvsp: ENSP00000271227.6:p.Thr214Lys
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143036
  ensembl transcript: ENST00000530397
  gene symbol: SLC44A3
  hgvsc: ENST00000530397.1:n.335C>A
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000431836
  ensembl transcript: ENST00000529450
  gene symbol: SLC44A3
  hgvsc: ENST00000529450.1:c.545C>A
  hgvsp: ENSP00000431836.1:p.Thr182Lys
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000434457
  ensembl transcript: ENST00000475883
  gene symbol: SLC44A3
  hgvsc: ENST00000475883.1:c.*364C>A
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000433641
  ensembl transcript: ENST00000527077
  gene symbol: SLC44A3
  hgvsc: ENST00000527077.1:c.437C>A
  hgvsp: ENSP00000433641.1:p.Thr146Lys
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000436661
  ensembl transcript: ENST00000532427
  gene symbol: SLC44A3
  hgvsc: ENST00000532427.1:c.401C>A
  hgvsp: ENSP00000436661.1:p.Thr134Lys
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000432789
  ensembl transcript: ENST00000467909
  gene symbol: SLC44A3
  hgvsc: ENST00000467909.1:c.497C>A
  hgvsp: ENSP00000432789.1:p.Thr166Lys
  variant of: http://identifiers.org/hgnc/28689
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10227
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35513
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5681
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2250
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6943
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2585
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr214Lys
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/1-95303399-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95303399
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 95303399
    reference: chr 1
allele count: 2
allele frequency: 1.65371258475277e-5
allele num: 120940
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000436661
  ensembl transcript: ENST00000532427
  gene symbol: SLC44A3
  hgvsc: ENST00000532427.1:c.402A>C
  hgvsp: ENST00000532427.1:c.402A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000432789
  ensembl transcript: ENST00000467909
  gene symbol: SLC44A3
  hgvsc: ENST00000467909.1:c.498A>C
  hgvsp: ENST00000467909.1:c.498A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000389143
  ensembl transcript: ENST00000446120
  gene symbol: SLC44A3
  hgvsc: ENST00000446120.2:c.534A>C
  hgvsp: ENST00000446120.2:c.534A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143036
  ensembl transcript: ENST00000530397
  gene symbol: SLC44A3
  hgvsc: ENST00000530397.1:n.336A>C
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000434457
  ensembl transcript: ENST00000475883
  gene symbol: SLC44A3
  hgvsc: ENST00000475883.1:c.*365A>C
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000433641
  ensembl transcript: ENST00000527077
  gene symbol: SLC44A3
  hgvsc: ENST00000527077.1:c.438A>C
  hgvsp: ENST00000527077.1:c.438A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000431836
  ensembl transcript: ENST00000529450
  gene symbol: SLC44A3
  hgvsc: ENST00000529450.1:c.546A>C
  hgvsp: ENST00000529450.1:c.546A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237416
  ensembl transcript: ENST00000422162
  gene symbol: RP11-465K1.2
  hgvsc: ENST00000422162.1:n.542-940T>G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000271227
  ensembl transcript: ENST00000271227
  gene symbol: SLC44A3
  hgvsc: ENST00000271227.6:c.642A>C
  hgvsp: ENST00000271227.6:c.642A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28689
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35519
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10232
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2247
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5674
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr214Thr
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

1-95303399-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95303399
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 95303399
    reference: chr 1
allele count: 1
allele frequency: 8.268562923763849e-6
allele num: 120940
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000389143
  ensembl transcript: ENST00000446120
  gene symbol: SLC44A3
  hgvsc: ENST00000446120.2:c.534A>G
  hgvsp: ENST00000446120.2:c.534A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143036
  ensembl transcript: ENST00000530397
  gene symbol: SLC44A3
  hgvsc: ENST00000530397.1:n.336A>G
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000436661
  ensembl transcript: ENST00000532427
  gene symbol: SLC44A3
  hgvsc: ENST00000532427.1:c.402A>G
  hgvsp: ENST00000532427.1:c.402A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000431836
  ensembl transcript: ENST00000529450
  gene symbol: SLC44A3
  hgvsc: ENST00000529450.1:c.546A>G
  hgvsp: ENST00000529450.1:c.546A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000433641
  ensembl transcript: ENST00000527077
  gene symbol: SLC44A3
  hgvsc: ENST00000527077.1:c.438A>G
  hgvsp: ENST00000527077.1:c.438A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000432789
  ensembl transcript: ENST00000467909
  gene symbol: SLC44A3
  hgvsc: ENST00000467909.1:c.498A>G
  hgvsp: ENST00000467909.1:c.498A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000434457
  ensembl transcript: ENST00000475883
  gene symbol: SLC44A3
  hgvsc: ENST00000475883.1:c.*365A>G
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000271227
  ensembl transcript: ENST00000271227
  gene symbol: SLC44A3
  hgvsc: ENST00000271227.6:c.642A>G
  hgvsp: ENST00000271227.6:c.642A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237416
  ensembl transcript: ENST00000422162
  gene symbol: RP11-465K1.2
  hgvsc: ENST00000422162.1:n.542-940T>C
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2247
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5674
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35519
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10232
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2460
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33734
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr214Thr
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP

1-95303403-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95303403
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 95303403
    reference: chr 1
allele count: 1
allele frequency: 8.275542461808372e-6
allele num: 120838
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000436661
  ensembl transcript: ENST00000532427
  gene symbol: SLC44A3
  hgvsc: ENST00000532427.1:c.406C>T
  hgvsp: ENSP00000436661.1:p.Leu136Phe
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000389143
  ensembl transcript: ENST00000446120
  gene symbol: SLC44A3
  hgvsc: ENST00000446120.2:c.538C>T
  hgvsp: ENSP00000389143.2:p.Leu180Phe
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000431836
  ensembl transcript: ENST00000529450
  gene symbol: SLC44A3
  hgvsc: ENST00000529450.1:c.550C>T
  hgvsp: ENSP00000431836.1:p.Leu184Phe
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000271227
  ensembl transcript: ENST00000271227
  gene symbol: SLC44A3
  hgvsc: ENST00000271227.6:c.646C>T
  hgvsp: ENSP00000271227.6:p.Leu216Phe
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000433641
  ensembl transcript: ENST00000527077
  gene symbol: SLC44A3
  hgvsc: ENST00000527077.1:c.442C>T
  hgvsp: ENSP00000433641.1:p.Leu148Phe
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143036
  ensembl transcript: ENST00000530397
  gene symbol: SLC44A3
  hgvsc: ENST00000530397.1:n.340C>T
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000432789
  ensembl transcript: ENST00000467909
  gene symbol: SLC44A3
  hgvsc: ENST00000467909.1:c.502C>T
  hgvsp: ENSP00000432789.1:p.Leu168Phe
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000434457
  ensembl transcript: ENST00000475883
  gene symbol: SLC44A3
  hgvsc: ENST00000475883.1:c.*369C>T
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237416
  ensembl transcript: ENST00000422162
  gene symbol: RP11-465K1.2
  hgvsc: ENST00000422162.1:n.542-944G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10233
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2251
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5673
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35384
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8165
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Leu216Phe
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP

1-95303411-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95303411
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 95303411
    reference: chr 1
allele count: 11
allele frequency: 9.14183135814371e-5
allele num: 120326
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000434457
  ensembl transcript: ENST00000475883
  gene symbol: SLC44A3
  hgvsc: ENST00000475883.1:c.*377G>A
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000436661
  ensembl transcript: ENST00000532427
  gene symbol: SLC44A3
  hgvsc: ENST00000532427.1:c.414G>A
  hgvsp: ENST00000532427.1:c.414G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000271227
  ensembl transcript: ENST00000271227
  gene symbol: SLC44A3
  hgvsc: ENST00000271227.6:c.654G>A
  hgvsp: ENST00000271227.6:c.654G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143036
  ensembl transcript: ENST00000530397
  gene symbol: SLC44A3
  hgvsc: ENST00000530397.1:n.348G>A
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237416
  ensembl transcript: ENST00000422162
  gene symbol: RP11-465K1.2
  hgvsc: ENST00000422162.1:n.542-952C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000432789
  ensembl transcript: ENST00000467909
  gene symbol: SLC44A3
  hgvsc: ENST00000467909.1:c.510G>A
  hgvsp: ENST00000467909.1:c.510G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000433641
  ensembl transcript: ENST00000527077
  gene symbol: SLC44A3
  hgvsc: ENST00000527077.1:c.450G>A
  hgvsp: ENST00000527077.1:c.450G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000389143
  ensembl transcript: ENST00000446120
  gene symbol: SLC44A3
  hgvsc: ENST00000446120.2:c.546G>A
  hgvsp: ENST00000446120.2:c.546G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000431836
  ensembl transcript: ENST00000529450
  gene symbol: SLC44A3
  hgvsc: ENST00000529450.1:c.558G>A
  hgvsp: ENST00000529450.1:c.558G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28689
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34803
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10159
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2244
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5656
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32953
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2449
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu218Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

1-95303416-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95303416
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 95303416
    reference: chr 1
allele count: 24
allele frequency: 1.999200319872051e-4
allele num: 120048
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000432789
  ensembl transcript: ENST00000467909
  gene symbol: SLC44A3
  hgvsc: ENST00000467909.1:c.515T>C
  hgvsp: ENSP00000432789.1:p.Ile172Thr
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000433641
  ensembl transcript: ENST00000527077
  gene symbol: SLC44A3
  hgvsc: ENST00000527077.1:c.455T>C
  hgvsp: ENSP00000433641.1:p.Ile152Thr
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000389143
  ensembl transcript: ENST00000446120
  gene symbol: SLC44A3
  hgvsc: ENST00000446120.2:c.551T>C
  hgvsp: ENSP00000389143.2:p.Ile184Thr
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000436661
  ensembl transcript: ENST00000532427
  gene symbol: SLC44A3
  hgvsc: ENST00000532427.1:c.419T>C
  hgvsp: ENSP00000436661.1:p.Ile140Thr
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143036
  ensembl transcript: ENST00000530397
  gene symbol: SLC44A3
  hgvsc: ENST00000530397.1:n.353T>C
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000434457
  ensembl transcript: ENST00000475883
  gene symbol: SLC44A3
  hgvsc: ENST00000475883.1:c.*382T>C
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000431836
  ensembl transcript: ENST00000529450
  gene symbol: SLC44A3
  hgvsc: ENST00000529450.1:c.563T>C
  hgvsp: ENSP00000431836.1:p.Ile188Thr
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000271227
  ensembl transcript: ENST00000271227
  gene symbol: SLC44A3
  hgvsc: ENST00000271227.6:c.659T>C
  hgvsp: ENSP00000271227.6:p.Ile220Thr
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237416
  ensembl transcript: ENST00000422162
  gene symbol: RP11-465K1.2
  hgvsc: ENST00000422162.1:n.542-957A>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2246
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10049
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5639
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34526
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 9.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1172
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6858
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ile220Thr
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD

1-95303419-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95303419
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 95303419
    reference: chr 1
allele count: 1
allele frequency: 8.351986102295126e-6
allele num: 119732
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000431836
  ensembl transcript: ENST00000529450
  gene symbol: SLC44A3
  hgvsc: ENST00000529450.1:c.566T>C
  hgvsp: ENSP00000431836.1:p.Leu189Pro
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237416
  ensembl transcript: ENST00000422162
  gene symbol: RP11-465K1.2
  hgvsc: ENST00000422162.1:n.542-960A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143036
  ensembl transcript: ENST00000530397
  gene symbol: SLC44A3
  hgvsc: ENST00000530397.1:n.356T>C
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000434457
  ensembl transcript: ENST00000475883
  gene symbol: SLC44A3
  hgvsc: ENST00000475883.1:c.*385T>C
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000433641
  ensembl transcript: ENST00000527077
  gene symbol: SLC44A3
  hgvsc: ENST00000527077.1:c.458T>C
  hgvsp: ENSP00000433641.1:p.Leu153Pro
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000436661
  ensembl transcript: ENST00000532427
  gene symbol: SLC44A3
  hgvsc: ENST00000532427.1:c.422T>C
  hgvsp: ENSP00000436661.1:p.Leu141Pro
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000389143
  ensembl transcript: ENST00000446120
  gene symbol: SLC44A3
  hgvsc: ENST00000446120.2:c.554T>C
  hgvsp: ENSP00000389143.2:p.Leu185Pro
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000271227
  ensembl transcript: ENST00000271227
  gene symbol: SLC44A3
  hgvsc: ENST00000271227.6:c.662T>C
  hgvsp: ENSP00000271227.6:p.Leu221Pro
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000432789
  ensembl transcript: ENST00000467909
  gene symbol: SLC44A3
  hgvsc: ENST00000467909.1:c.518T>C
  hgvsp: ENSP00000432789.1:p.Leu173Pro
  variant of: http://identifiers.org/hgnc/28689
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9959
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5624
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34182
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2250
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6827
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8190
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1595
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu221Pro
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: T
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP

1-95303420-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95303420
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 95303420
    reference: chr 1
allele count: 3
allele frequency: 2.506223789076206e-5
allele num: 119702
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000432789
  ensembl transcript: ENST00000467909
  gene symbol: SLC44A3
  hgvsc: ENST00000467909.1:c.519C>T
  hgvsp: ENST00000467909.1:c.519C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000433641
  ensembl transcript: ENST00000527077
  gene symbol: SLC44A3
  hgvsc: ENST00000527077.1:c.459C>T
  hgvsp: ENST00000527077.1:c.459C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000434457
  ensembl transcript: ENST00000475883
  gene symbol: SLC44A3
  hgvsc: ENST00000475883.1:c.*386C>T
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000389143
  ensembl transcript: ENST00000446120
  gene symbol: SLC44A3
  hgvsc: ENST00000446120.2:c.555C>T
  hgvsp: ENST00000446120.2:c.555C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000431836
  ensembl transcript: ENST00000529450
  gene symbol: SLC44A3
  hgvsc: ENST00000529450.1:c.567C>T
  hgvsp: ENST00000529450.1:c.567C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000271227
  ensembl transcript: ENST00000271227
  gene symbol: SLC44A3
  hgvsc: ENST00000271227.6:c.663C>T
  hgvsp: ENST00000271227.6:c.663C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143036
  ensembl transcript: ENST00000530397
  gene symbol: SLC44A3
  hgvsc: ENST00000530397.1:n.357C>T
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000436661
  ensembl transcript: ENST00000532427
  gene symbol: SLC44A3
  hgvsc: ENST00000532427.1:c.423C>T
  hgvsp: ENST00000532427.1:c.423C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237416
  ensembl transcript: ENST00000422162
  gene symbol: RP11-465K1.2
  hgvsc: ENST00000422162.1:n.542-961G>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2253
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34137
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9965
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5649
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1600
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2441
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu221Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD

1-95303421-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95303421
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 95303421
    reference: chr 1
allele count: 8
allele frequency: 6.687844841999666e-5
allele num: 119620
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000432789
  ensembl transcript: ENST00000467909
  gene symbol: SLC44A3
  hgvsc: ENST00000467909.1:c.520G>A
  hgvsp: ENSP00000432789.1:p.Ala174Thr
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000434457
  ensembl transcript: ENST00000475883
  gene symbol: SLC44A3
  hgvsc: ENST00000475883.1:c.*387G>A
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143036
  ensembl transcript: ENST00000530397
  gene symbol: SLC44A3
  hgvsc: ENST00000530397.1:n.358G>A
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000433641
  ensembl transcript: ENST00000527077
  gene symbol: SLC44A3
  hgvsc: ENST00000527077.1:c.460G>A
  hgvsp: ENSP00000433641.1:p.Ala154Thr
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000271227
  ensembl transcript: ENST00000271227
  gene symbol: SLC44A3
  hgvsc: ENST00000271227.6:c.664G>A
  hgvsp: ENSP00000271227.6:p.Ala222Thr
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000389143
  ensembl transcript: ENST00000446120
  gene symbol: SLC44A3
  hgvsc: ENST00000446120.2:c.556G>A
  hgvsp: ENSP00000389143.2:p.Ala186Thr
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000431836
  ensembl transcript: ENST00000529450
  gene symbol: SLC44A3
  hgvsc: ENST00000529450.1:c.568G>A
  hgvsp: ENSP00000431836.1:p.Ala190Thr
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000436661
  ensembl transcript: ENST00000532427
  gene symbol: SLC44A3
  hgvsc: ENST00000532427.1:c.424G>A
  hgvsp: ENSP00000436661.1:p.Ala142Thr
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237416
  ensembl transcript: ENST00000422162
  gene symbol: RP11-465K1.2
  hgvsc: ENST00000422162.1:n.542-962C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5625
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9939
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2247
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34065
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1645
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6806
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8199
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala222Thr
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD

1-95303425-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95303425
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 95303425
    reference: chr 1
allele count: 2
allele frequency: 1.677936808899777e-5
allele num: 119194
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237416
  ensembl transcript: ENST00000422162
  gene symbol: RP11-465K1.2
  hgvsc: ENST00000422162.1:n.542-966A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143036
  ensembl transcript: ENST00000530397
  gene symbol: SLC44A3
  hgvsc: ENST00000530397.1:n.362T>G
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000271227
  ensembl transcript: ENST00000271227
  gene symbol: SLC44A3
  hgvsc: ENST00000271227.6:c.668T>G
  hgvsp: ENSP00000271227.6:p.Leu223Ter
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000389143
  ensembl transcript: ENST00000446120
  gene symbol: SLC44A3
  hgvsc: ENST00000446120.2:c.560T>G
  hgvsp: ENSP00000389143.2:p.Leu187Ter
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000431836
  ensembl transcript: ENST00000529450
  gene symbol: SLC44A3
  hgvsc: ENST00000529450.1:c.572T>G
  hgvsp: ENSP00000431836.1:p.Leu191Ter
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000436661
  ensembl transcript: ENST00000532427
  gene symbol: SLC44A3
  hgvsc: ENST00000532427.1:c.428T>G
  hgvsp: ENSP00000436661.1:p.Leu143Ter
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000433641
  ensembl transcript: ENST00000527077
  gene symbol: SLC44A3
  hgvsc: ENST00000527077.1:c.464T>G
  hgvsp: ENSP00000433641.1:p.Leu155Ter
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000432789
  ensembl transcript: ENST00000467909
  gene symbol: SLC44A3
  hgvsc: ENST00000467909.1:c.524T>G
  hgvsp: ENSP00000432789.1:p.Leu175Ter
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000434457
  ensembl transcript: ENST00000475883
  gene symbol: SLC44A3
  hgvsc: ENST00000475883.1:c.*391T>G
  variant of: http://identifiers.org/hgnc/28689
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5591
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9773
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2246
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33694
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2579
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu223Ter
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

1-95303428-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95303428
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 95303428
    reference: chr 1
allele count: 1
allele frequency: 8.419776370739593e-6
allele num: 118768
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000271227
  ensembl transcript: ENST00000271227
  gene symbol: SLC44A3
  hgvsc: ENST00000271227.6:c.670+1G>A
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000432789
  ensembl transcript: ENST00000467909
  gene symbol: SLC44A3
  hgvsc: ENST00000467909.1:c.526+1G>A
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000389143
  ensembl transcript: ENST00000446120
  gene symbol: SLC44A3
  hgvsc: ENST00000446120.2:c.562+1G>A
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000436661
  ensembl transcript: ENST00000532427
  gene symbol: SLC44A3
  hgvsc: ENST00000532427.1:c.430+1G>A
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000434457
  ensembl transcript: ENST00000475883
  gene symbol: SLC44A3
  hgvsc: ENST00000475883.1:c.*393+1G>A
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000431836
  ensembl transcript: ENST00000529450
  gene symbol: SLC44A3
  hgvsc: ENST00000529450.1:c.574+1G>A
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000143036
  ensembl transcript: ENST00000530397
  gene symbol: SLC44A3
  hgvsc: ENST00000530397.1:n.364+1G>A
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237416
  ensembl transcript: ENST00000422162
  gene symbol: RP11-465K1.2
  hgvsc: ENST00000422162.1:n.542-969C>T
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000433641
  ensembl transcript: ENST00000527077
  gene symbol: SLC44A3
  hgvsc: ENST00000527077.1:c.466+1G>A
  variant of: http://identifiers.org/hgnc/28689
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1858
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33292
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9606
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2246
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5579
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2495
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
hgvs: c.670+1G>A
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

1-95303429-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95303429
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 95303429
    reference: chr 1
allele count: 1
allele frequency: 8.4199181583955e-6
allele num: 118766
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000433641
  ensembl transcript: ENST00000527077
  gene symbol: SLC44A3
  hgvsc: ENST00000527077.1:c.466+2T>C
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000436661
  ensembl transcript: ENST00000532427
  gene symbol: SLC44A3
  hgvsc: ENST00000532427.1:c.430+2T>C
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000271227
  ensembl transcript: ENST00000271227
  gene symbol: SLC44A3
  hgvsc: ENST00000271227.6:c.670+2T>C
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000389143
  ensembl transcript: ENST00000446120
  gene symbol: SLC44A3
  hgvsc: ENST00000446120.2:c.562+2T>C
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000432789
  ensembl transcript: ENST00000467909
  gene symbol: SLC44A3
  hgvsc: ENST00000467909.1:c.526+2T>C
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000434457
  ensembl transcript: ENST00000475883
  gene symbol: SLC44A3
  hgvsc: ENST00000475883.1:c.*393+2T>C
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237416
  ensembl transcript: ENST00000422162
  gene symbol: RP11-465K1.2
  hgvsc: ENST00000422162.1:n.542-970A>G
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000431836
  ensembl transcript: ENST00000529450
  gene symbol: SLC44A3
  hgvsc: ENST00000529450.1:c.574+2T>C
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000143036
  ensembl transcript: ENST00000530397
  gene symbol: SLC44A3
  hgvsc: ENST00000530397.1:n.364+2T>C
  variant of: http://identifiers.org/hgnc/28689
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2245
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9612
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1858
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33295
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5570
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2429
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8199
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2502
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3363
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6735
  bin: 6.75e1
  variant carriers: 0
hgvs: c.670+2T>C
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

1-95303451-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95303451
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 95303451
    reference: chr 1
allele count: 1
allele frequency: 8.526748409761421e-6
allele num: 117278
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000433641
  ensembl transcript: ENST00000527077
  gene symbol: SLC44A3
  hgvsc: ENST00000527077.1:c.466+24T>G
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237416
  ensembl transcript: ENST00000422162
  gene symbol: RP11-465K1.2
  hgvsc: ENST00000422162.1:n.542-992A>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000436661
  ensembl transcript: ENST00000532427
  gene symbol: SLC44A3
  hgvsc: ENST00000532427.1:c.430+24T>G
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000389143
  ensembl transcript: ENST00000446120
  gene symbol: SLC44A3
  hgvsc: ENST00000446120.2:c.562+24T>G
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl transcript: ENST00000530397
  gene symbol: SLC44A3
  hgvsc: ENST00000530397.1:n.364+24T>G
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000271227
  ensembl transcript: ENST00000271227
  gene symbol: SLC44A3
  hgvsc: ENST00000271227.6:c.670+24T>G
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000431836
  ensembl transcript: ENST00000529450
  gene symbol: SLC44A3
  hgvsc: ENST00000529450.1:c.574+24T>G
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000434457
  ensembl transcript: ENST00000475883
  gene symbol: SLC44A3
  hgvsc: ENST00000475883.1:c.*393+24T>G
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000432789
  ensembl transcript: ENST00000467909
  gene symbol: SLC44A3
  hgvsc: ENST00000467909.1:c.526+24T>G
  variant of: http://identifiers.org/hgnc/28689
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2712
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5533
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2242
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32065
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9175
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1727
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8197
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6688
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2580
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
reference allele: T
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum

1-95303457-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95303457
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 95303457
    reference: chr 1
allele count: 1
allele frequency: 8.560764305037153e-6
allele num: 116812
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000389143
  ensembl transcript: ENST00000446120
  gene symbol: SLC44A3
  hgvsc: ENST00000446120.2:c.562+30T>C
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000432789
  ensembl transcript: ENST00000467909
  gene symbol: SLC44A3
  hgvsc: ENST00000467909.1:c.526+30T>C
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000433641
  ensembl transcript: ENST00000527077
  gene symbol: SLC44A3
  hgvsc: ENST00000527077.1:c.466+30T>C
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl transcript: ENST00000530397
  gene symbol: SLC44A3
  hgvsc: ENST00000530397.1:n.364+30T>C
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000431836
  ensembl transcript: ENST00000529450
  gene symbol: SLC44A3
  hgvsc: ENST00000529450.1:c.574+30T>C
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000434457
  ensembl transcript: ENST00000475883
  gene symbol: SLC44A3
  hgvsc: ENST00000475883.1:c.*393+30T>C
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000271227
  ensembl transcript: ENST00000271227
  gene symbol: SLC44A3
  hgvsc: ENST00000271227.6:c.670+30T>C
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000436661
  ensembl transcript: ENST00000532427
  gene symbol: SLC44A3
  hgvsc: ENST00000532427.1:c.430+30T>C
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237416
  ensembl transcript: ENST00000422162
  gene symbol: RP11-465K1.2
  hgvsc: ENST00000422162.1:n.542-998A>G
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5537
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1858
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2630
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9141
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2244
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31892
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1172
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2580
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: QD
site quality: MQRankSum

1-95303458-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95303458
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 95303458
    reference: chr 1
allele count: 4
allele frequency: 3.42583076396026e-5
allele num: 116760
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000271227
  ensembl transcript: ENST00000271227
  gene symbol: SLC44A3
  hgvsc: ENST00000271227.6:c.670+31T>A
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000389143
  ensembl transcript: ENST00000446120
  gene symbol: SLC44A3
  hgvsc: ENST00000446120.2:c.562+31T>A
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000434457
  ensembl transcript: ENST00000475883
  gene symbol: SLC44A3
  hgvsc: ENST00000475883.1:c.*393+31T>A
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237416
  ensembl transcript: ENST00000422162
  gene symbol: RP11-465K1.2
  hgvsc: ENST00000422162.1:n.542-999A>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl transcript: ENST00000530397
  gene symbol: SLC44A3
  hgvsc: ENST00000530397.1:n.364+31T>A
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000433641
  ensembl transcript: ENST00000527077
  gene symbol: SLC44A3
  hgvsc: ENST00000527077.1:c.466+31T>A
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000431836
  ensembl transcript: ENST00000529450
  gene symbol: SLC44A3
  hgvsc: ENST00000529450.1:c.574+31T>A
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000436661
  ensembl transcript: ENST00000532427
  gene symbol: SLC44A3
  hgvsc: ENST00000532427.1:c.430+31T>A
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000432789
  ensembl transcript: ENST00000467909
  gene symbol: SLC44A3
  hgvsc: ENST00000467909.1:c.526+31T>A
  variant of: http://identifiers.org/hgnc/28689
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5536
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2618
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1875
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9135
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2243
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31847
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1172
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2974
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum

1-95303464-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95303464
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 95303464
    reference: chr 1
allele count: 1
allele frequency: 8.606148232297153e-6
allele num: 116196
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl transcript: ENST00000530397
  gene symbol: SLC44A3
  hgvsc: ENST00000530397.1:n.364+37T>C
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000271227
  ensembl transcript: ENST00000271227
  gene symbol: SLC44A3
  hgvsc: ENST00000271227.6:c.670+37T>C
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000431836
  ensembl transcript: ENST00000529450
  gene symbol: SLC44A3
  hgvsc: ENST00000529450.1:c.574+37T>C
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000389143
  ensembl transcript: ENST00000446120
  gene symbol: SLC44A3
  hgvsc: ENST00000446120.2:c.562+37T>C
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000433641
  ensembl transcript: ENST00000527077
  gene symbol: SLC44A3
  hgvsc: ENST00000527077.1:c.466+37T>C
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000436661
  ensembl transcript: ENST00000532427
  gene symbol: SLC44A3
  hgvsc: ENST00000532427.1:c.430+37T>C
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000432789
  ensembl transcript: ENST00000467909
  gene symbol: SLC44A3
  hgvsc: ENST00000467909.1:c.526+37T>C
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237416
  ensembl transcript: ENST00000422162
  gene symbol: RP11-465K1.2
  hgvsc: ENST00000422162.1:n.542-1005A>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000434457
  ensembl transcript: ENST00000475883
  gene symbol: SLC44A3
  hgvsc: ENST00000475883.1:c.*393+37T>C
  variant of: http://identifiers.org/hgnc/28689
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2073
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2244
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2413
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5528
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9100
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31685
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29019
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1171
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2422
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/1-95303472-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95303472
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 95303473
    reference: chr 1
allele count: 4
allele frequency: 3.464223234545234e-5
allele num: 115466
alternate allele: CA
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237416
  ensembl transcript: ENST00000422162
  gene symbol: RP11-465K1.2
  hgvsc: ENST00000422162.1:n.541+1006dupT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000431836
  ensembl transcript: ENST00000529450
  gene symbol: SLC44A3
  hgvsc: ENST00000529450.1:c.574+48dupA
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000389143
  ensembl transcript: ENST00000446120
  gene symbol: SLC44A3
  hgvsc: ENST00000446120.2:c.562+48dupA
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000434457
  ensembl transcript: ENST00000475883
  gene symbol: SLC44A3
  hgvsc: ENST00000475883.1:c.*393+48dupA
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000432789
  ensembl transcript: ENST00000467909
  gene symbol: SLC44A3
  hgvsc: ENST00000467909.1:c.526+48dupA
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000271227
  ensembl transcript: ENST00000271227
  gene symbol: SLC44A3
  hgvsc: ENST00000271227.6:c.670+48dupA
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000433641
  ensembl transcript: ENST00000527077
  gene symbol: SLC44A3
  hgvsc: ENST00000527077.1:c.466+48dupA
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl transcript: ENST00000530397
  gene symbol: SLC44A3
  hgvsc: ENST00000530397.1:n.364+48dupA
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000436661
  ensembl transcript: ENST00000532427
  gene symbol: SLC44A3
  hgvsc: ENST00000532427.1:c.430+48dupA
  variant of: http://identifiers.org/hgnc/28689
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9049
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2369
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2247
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5520
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31590
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2418
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28688
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8202
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff

1-95303479-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95303479
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 95303479
    reference: chr 1
allele count: 5
allele frequency: 4.351610095735422e-5
allele num: 114900
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000436661
  ensembl transcript: ENST00000532427
  gene symbol: SLC44A3
  hgvsc: ENST00000532427.1:c.430+52C>T
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000434457
  ensembl transcript: ENST00000475883
  gene symbol: SLC44A3
  hgvsc: ENST00000475883.1:c.*393+52C>T
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000433641
  ensembl transcript: ENST00000527077
  gene symbol: SLC44A3
  hgvsc: ENST00000527077.1:c.466+52C>T
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000432789
  ensembl transcript: ENST00000467909
  gene symbol: SLC44A3
  hgvsc: ENST00000467909.1:c.526+52C>T
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237416
  ensembl transcript: ENST00000422162
  gene symbol: RP11-465K1.2
  hgvsc: ENST00000422162.1:n.541+1000G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000271227
  ensembl transcript: ENST00000271227
  gene symbol: SLC44A3
  hgvsc: ENST00000271227.6:c.670+52C>T
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000431836
  ensembl transcript: ENST00000529450
  gene symbol: SLC44A3
  hgvsc: ENST00000529450.1:c.574+52C>T
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000389143
  ensembl transcript: ENST00000446120
  gene symbol: SLC44A3
  hgvsc: ENST00000446120.2:c.562+52C>T
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl transcript: ENST00000530397
  gene symbol: SLC44A3
  hgvsc: ENST00000530397.1:n.364+52C>T
  variant of: http://identifiers.org/hgnc/28689
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2520
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31325
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9209
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2257
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1981
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5606
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1111
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3354
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6609
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP

1-95305454-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95305454
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 95305454
    reference: chr 1
allele count: 2
allele frequency: 1.649266900862567e-5
allele num: 121266
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000389143
  ensembl transcript: ENST00000446120
  gene symbol: SLC44A3
  hgvsc: ENST00000446120.2:c.563-50C>T
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000271227
  ensembl transcript: ENST00000271227
  gene symbol: SLC44A3
  hgvsc: ENST00000271227.6:c.671-50C>T
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000433641
  ensembl transcript: ENST00000527077
  gene symbol: SLC44A3
  hgvsc: ENST00000527077.1:c.467-50C>T
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000431836
  ensembl transcript: ENST00000529450
  gene symbol: SLC44A3
  hgvsc: ENST00000529450.1:c.575-50C>T
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl transcript: ENST00000530397
  gene symbol: SLC44A3
  hgvsc: ENST00000530397.1:n.365-50C>T
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237416
  ensembl transcript: ENST00000422162
  gene symbol: RP11-465K1.2
  hgvsc: ENST00000422162.1:n.423-857G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000432789
  ensembl transcript: ENST00000467909
  gene symbol: SLC44A3
  hgvsc: ENST00000467909.1:c.527-50C>T
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000434457
  ensembl transcript: ENST00000475883
  gene symbol: SLC44A3
  hgvsc: ENST00000475883.1:c.*394-50C>T
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000436661
  ensembl transcript: ENST00000532427
  gene symbol: SLC44A3
  hgvsc: ENST00000532427.1:c.431-50C>T
  variant of: http://identifiers.org/hgnc/28689
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5267
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6541
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6372
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4406
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5945
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3729
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5637
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1371
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3348
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2360
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5120
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5923
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6123
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1669
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-95305460-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95305460
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 95305460
    reference: chr 1
allele count: 2
allele frequency: 1.648804616652927e-5
allele num: 121300
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000433641
  ensembl transcript: ENST00000527077
  gene symbol: SLC44A3
  hgvsc: ENST00000527077.1:c.467-44C>T
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000431836
  ensembl transcript: ENST00000529450
  gene symbol: SLC44A3
  hgvsc: ENST00000529450.1:c.575-44C>T
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000436661
  ensembl transcript: ENST00000532427
  gene symbol: SLC44A3
  hgvsc: ENST00000532427.1:c.431-44C>T
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000434457
  ensembl transcript: ENST00000475883
  gene symbol: SLC44A3
  hgvsc: ENST00000475883.1:c.*394-44C>T
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000389143
  ensembl transcript: ENST00000446120
  gene symbol: SLC44A3
  hgvsc: ENST00000446120.2:c.563-44C>T
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237416
  ensembl transcript: ENST00000422162
  gene symbol: RP11-465K1.2
  hgvsc: ENST00000422162.1:n.423-863G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000271227
  ensembl transcript: ENST00000271227
  gene symbol: SLC44A3
  hgvsc: ENST00000271227.6:c.671-44C>T
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl transcript: ENST00000530397
  gene symbol: SLC44A3
  hgvsc: ENST00000530397.1:n.365-44C>T
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000432789
  ensembl transcript: ENST00000467909
  gene symbol: SLC44A3
  hgvsc: ENST00000467909.1:c.527-44C>T
  variant of: http://identifiers.org/hgnc/28689
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5924
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3780
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3349
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6368
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5948
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6541
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4407
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2359
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5260
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5636
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5146
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2948
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

1-95305466-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95305466
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 95305466
    reference: chr 1
allele count: 2
allele frequency: 1.648451280022419e-5
allele num: 121326
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000434457
  ensembl transcript: ENST00000475883
  gene symbol: SLC44A3
  hgvsc: ENST00000475883.1:c.*394-38T>C
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000271227
  ensembl transcript: ENST00000271227
  gene symbol: SLC44A3
  hgvsc: ENST00000271227.6:c.671-38T>C
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000431836
  ensembl transcript: ENST00000529450
  gene symbol: SLC44A3
  hgvsc: ENST00000529450.1:c.575-38T>C
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000433641
  ensembl transcript: ENST00000527077
  gene symbol: SLC44A3
  hgvsc: ENST00000527077.1:c.467-38T>C
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000432789
  ensembl transcript: ENST00000467909
  gene symbol: SLC44A3
  hgvsc: ENST00000467909.1:c.527-38T>C
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000436661
  ensembl transcript: ENST00000532427
  gene symbol: SLC44A3
  hgvsc: ENST00000532427.1:c.431-38T>C
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl transcript: ENST00000530397
  gene symbol: SLC44A3
  hgvsc: ENST00000530397.1:n.365-38T>C
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000389143
  ensembl transcript: ENST00000446120
  gene symbol: SLC44A3
  hgvsc: ENST00000446120.2:c.563-38T>C
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237416
  ensembl transcript: ENST00000422162
  gene symbol: RP11-465K1.2
  hgvsc: ENST00000422162.1:n.423-869A>G
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6370
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1612
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5947
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6539
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3348
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5924
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2357
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5636
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5174
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4407
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3818
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5264
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3408
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff

1-95305467-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95305467
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 95305467
    reference: chr 1
allele count: 1
allele frequency: 8.242664029014178e-6
allele num: 121320
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000271227
  ensembl transcript: ENST00000271227
  gene symbol: SLC44A3
  hgvsc: ENST00000271227.6:c.671-37T>C
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000432789
  ensembl transcript: ENST00000467909
  gene symbol: SLC44A3
  hgvsc: ENST00000467909.1:c.527-37T>C
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000433641
  ensembl transcript: ENST00000527077
  gene symbol: SLC44A3
  hgvsc: ENST00000527077.1:c.467-37T>C
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl transcript: ENST00000530397
  gene symbol: SLC44A3
  hgvsc: ENST00000530397.1:n.365-37T>C
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000434457
  ensembl transcript: ENST00000475883
  gene symbol: SLC44A3
  hgvsc: ENST00000475883.1:c.*394-37T>C
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000431836
  ensembl transcript: ENST00000529450
  gene symbol: SLC44A3
  hgvsc: ENST00000529450.1:c.575-37T>C
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237416
  ensembl transcript: ENST00000422162
  gene symbol: RP11-465K1.2
  hgvsc: ENST00000422162.1:n.423-870A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000389143
  ensembl transcript: ENST00000446120
  gene symbol: SLC44A3
  hgvsc: ENST00000446120.2:c.563-37T>C
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000436661
  ensembl transcript: ENST00000532427
  gene symbol: SLC44A3
  hgvsc: ENST00000532427.1:c.431-37T>C
  variant of: http://identifiers.org/hgnc/28689
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5265
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5637
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3348
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5946
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3828
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4407
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5179
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6539
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2357
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5923
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6370
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3185
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: MQ

http://identifiers.org/exac.variant/1-95305469-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95305469
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 95305469
    reference: chr 1
allele count: 1
allele frequency: 8.24279991427488e-6
allele num: 121318
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl transcript: ENST00000530397
  gene symbol: SLC44A3
  hgvsc: ENST00000530397.1:n.365-35C>A
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000433641
  ensembl transcript: ENST00000527077
  gene symbol: SLC44A3
  hgvsc: ENST00000527077.1:c.467-35C>A
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237416
  ensembl transcript: ENST00000422162
  gene symbol: RP11-465K1.2
  hgvsc: ENST00000422162.1:n.423-872G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000431836
  ensembl transcript: ENST00000529450
  gene symbol: SLC44A3
  hgvsc: ENST00000529450.1:c.575-35C>A
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000271227
  ensembl transcript: ENST00000271227
  gene symbol: SLC44A3
  hgvsc: ENST00000271227.6:c.671-35C>A
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000434457
  ensembl transcript: ENST00000475883
  gene symbol: SLC44A3
  hgvsc: ENST00000475883.1:c.*394-35C>A
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000436661
  ensembl transcript: ENST00000532427
  gene symbol: SLC44A3
  hgvsc: ENST00000532427.1:c.431-35C>A
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000432789
  ensembl transcript: ENST00000467909
  gene symbol: SLC44A3
  hgvsc: ENST00000467909.1:c.527-35C>A
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000389143
  ensembl transcript: ENST00000446120
  gene symbol: SLC44A3
  hgvsc: ENST00000446120.2:c.563-35C>A
  variant of: http://identifiers.org/hgnc/28689
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3862
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4407
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5197
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6371
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5270
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2357
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3347
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5636
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5923
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5951
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6541
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1568
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1662
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
population: African
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

1-95305471-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95305471
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 95305471
    reference: chr 1
allele count: 2
allele frequency: 1.648396933981703e-5
allele num: 121330
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000389143
  ensembl transcript: ENST00000446120
  gene symbol: SLC44A3
  hgvsc: ENST00000446120.2:c.563-33A>G
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000436661
  ensembl transcript: ENST00000532427
  gene symbol: SLC44A3
  hgvsc: ENST00000532427.1:c.431-33A>G
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000433641
  ensembl transcript: ENST00000527077
  gene symbol: SLC44A3
  hgvsc: ENST00000527077.1:c.467-33A>G
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000431836
  ensembl transcript: ENST00000529450
  gene symbol: SLC44A3
  hgvsc: ENST00000529450.1:c.575-33A>G
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl transcript: ENST00000530397
  gene symbol: SLC44A3
  hgvsc: ENST00000530397.1:n.365-33A>G
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000434457
  ensembl transcript: ENST00000475883
  gene symbol: SLC44A3
  hgvsc: ENST00000475883.1:c.*394-33A>G
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000271227
  ensembl transcript: ENST00000271227
  gene symbol: SLC44A3
  hgvsc: ENST00000271227.6:c.671-33A>G
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000432789
  ensembl transcript: ENST00000467909
  gene symbol: SLC44A3
  hgvsc: ENST00000467909.1:c.527-33A>G
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237416
  ensembl transcript: ENST00000422162
  gene symbol: RP11-465K1.2
  hgvsc: ENST00000422162.1:n.423-874T>C
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5636
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5208
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6541
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6370
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2357
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3891
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5924
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3348
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4407
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5942
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5271
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3381
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1569
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

1-95305477-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95305477
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 95305477
    reference: chr 1
allele count: 1
allele frequency: 8.241848811525402e-6
allele num: 121332
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000433641
  ensembl transcript: ENST00000527077
  gene symbol: SLC44A3
  hgvsc: ENST00000527077.1:c.467-27G>T
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237416
  ensembl transcript: ENST00000422162
  gene symbol: RP11-465K1.2
  hgvsc: ENST00000422162.1:n.423-880C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000431836
  ensembl transcript: ENST00000529450
  gene symbol: SLC44A3
  hgvsc: ENST00000529450.1:c.575-27G>T
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000434457
  ensembl transcript: ENST00000475883
  gene symbol: SLC44A3
  hgvsc: ENST00000475883.1:c.*394-27G>T
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000271227
  ensembl transcript: ENST00000271227
  gene symbol: SLC44A3
  hgvsc: ENST00000271227.6:c.671-27G>T
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl transcript: ENST00000530397
  gene symbol: SLC44A3
  hgvsc: ENST00000530397.1:n.365-27G>T
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000389143
  ensembl transcript: ENST00000446120
  gene symbol: SLC44A3
  hgvsc: ENST00000446120.2:c.563-27G>T
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000436661
  ensembl transcript: ENST00000532427
  gene symbol: SLC44A3
  hgvsc: ENST00000532427.1:c.431-27G>T
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000432789
  ensembl transcript: ENST00000467909
  gene symbol: SLC44A3
  hgvsc: ENST00000467909.1:c.527-27G>T
  variant of: http://identifiers.org/hgnc/28689
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3347
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6369
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5272
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3926
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2357
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1660
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6540
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5948
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5217
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5922
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5636
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3423
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2933
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD

1-95305481-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95305481
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 95305481
    reference: chr 1
allele count: 1
allele frequency: 8.240762105679534e-6
allele num: 121348
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl transcript: ENST00000530397
  gene symbol: SLC44A3
  hgvsc: ENST00000530397.1:n.365-23A>G
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000271227
  ensembl transcript: ENST00000271227
  gene symbol: SLC44A3
  hgvsc: ENST00000271227.6:c.671-23A>G
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000431836
  ensembl transcript: ENST00000529450
  gene symbol: SLC44A3
  hgvsc: ENST00000529450.1:c.575-23A>G
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000436661
  ensembl transcript: ENST00000532427
  gene symbol: SLC44A3
  hgvsc: ENST00000532427.1:c.431-23A>G
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000389143
  ensembl transcript: ENST00000446120
  gene symbol: SLC44A3
  hgvsc: ENST00000446120.2:c.563-23A>G
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237416
  ensembl transcript: ENST00000422162
  gene symbol: RP11-465K1.2
  hgvsc: ENST00000422162.1:n.423-884T>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000434457
  ensembl transcript: ENST00000475883
  gene symbol: SLC44A3
  hgvsc: ENST00000475883.1:c.*394-23A>G
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000432789
  ensembl transcript: ENST00000467909
  gene symbol: SLC44A3
  hgvsc: ENST00000467909.1:c.527-23A>G
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000433641
  ensembl transcript: ENST00000527077
  gene symbol: SLC44A3
  hgvsc: ENST00000527077.1:c.467-23A>G
  variant of: http://identifiers.org/hgnc/28689
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6540
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6369
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5274
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5639
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3942
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1658
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3347
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5948
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5225
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5923
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2357
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3381
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1666
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3187
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff

1-95305491-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95305491
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 95305491
    reference: chr 1
allele count: 2
allele frequency: 1.647880825258717e-5
allele num: 121368
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000271227
  ensembl transcript: ENST00000271227
  gene symbol: SLC44A3
  hgvsc: ENST00000271227.6:c.671-13C>T
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000432789
  ensembl transcript: ENST00000467909
  gene symbol: SLC44A3
  hgvsc: ENST00000467909.1:c.527-13C>T
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000389143
  ensembl transcript: ENST00000446120
  gene symbol: SLC44A3
  hgvsc: ENST00000446120.2:c.563-13C>T
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl transcript: ENST00000530397
  gene symbol: SLC44A3
  hgvsc: ENST00000530397.1:n.365-13C>T
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000433641
  ensembl transcript: ENST00000527077
  gene symbol: SLC44A3
  hgvsc: ENST00000527077.1:c.467-13C>T
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000436661
  ensembl transcript: ENST00000532427
  gene symbol: SLC44A3
  hgvsc: ENST00000532427.1:c.431-13C>T
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000431836
  ensembl transcript: ENST00000529450
  gene symbol: SLC44A3
  hgvsc: ENST00000529450.1:c.575-13C>T
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000434457
  ensembl transcript: ENST00000475883
  gene symbol: SLC44A3
  hgvsc: ENST00000475883.1:c.*394-13C>T
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237416
  ensembl transcript: ENST00000422162
  gene symbol: RP11-465K1.2
  hgvsc: ENST00000422162.1:n.423-894G>A
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3959
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5923
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3347
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6537
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2357
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5235
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5946
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5273
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4409
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5639
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6369
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3443
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7104
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: African
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: DP

1-95305493-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95305493
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 95305493
    reference: chr 1
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000389143
  ensembl transcript: ENST00000446120
  gene symbol: SLC44A3
  hgvsc: ENST00000446120.2:c.563-11T>C
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237416
  ensembl transcript: ENST00000422162
  gene symbol: RP11-465K1.2
  hgvsc: ENST00000422162.1:n.423-896A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl transcript: ENST00000530397
  gene symbol: SLC44A3
  hgvsc: ENST00000530397.1:n.365-11T>C
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000433641
  ensembl transcript: ENST00000527077
  gene symbol: SLC44A3
  hgvsc: ENST00000527077.1:c.467-11T>C
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000271227
  ensembl transcript: ENST00000271227
  gene symbol: SLC44A3
  hgvsc: ENST00000271227.6:c.671-11T>C
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000431836
  ensembl transcript: ENST00000529450
  gene symbol: SLC44A3
  hgvsc: ENST00000529450.1:c.575-11T>C
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000434457
  ensembl transcript: ENST00000475883
  gene symbol: SLC44A3
  hgvsc: ENST00000475883.1:c.*394-11T>C
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000432789
  ensembl transcript: ENST00000467909
  gene symbol: SLC44A3
  hgvsc: ENST00000467909.1:c.527-11T>C
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000436661
  ensembl transcript: ENST00000532427
  gene symbol: SLC44A3
  hgvsc: ENST00000532427.1:c.431-11T>C
  variant of: http://identifiers.org/hgnc/28689
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6538
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5270
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3969
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5233
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1677
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2356
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6369
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3347
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5945
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5638
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5924
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3448
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/1-95305495-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95305495
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 95305495
    reference: chr 1
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000431836
  ensembl transcript: ENST00000529450
  gene symbol: SLC44A3
  hgvsc: ENST00000529450.1:c.575-9A>C
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000436661
  ensembl transcript: ENST00000532427
  gene symbol: SLC44A3
  hgvsc: ENST00000532427.1:c.431-9A>C
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000432789
  ensembl transcript: ENST00000467909
  gene symbol: SLC44A3
  hgvsc: ENST00000467909.1:c.527-9A>C
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000434457
  ensembl transcript: ENST00000475883
  gene symbol: SLC44A3
  hgvsc: ENST00000475883.1:c.*394-9A>C
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000271227
  ensembl transcript: ENST00000271227
  gene symbol: SLC44A3
  hgvsc: ENST00000271227.6:c.671-9A>C
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl transcript: ENST00000530397
  gene symbol: SLC44A3
  hgvsc: ENST00000530397.1:n.365-9A>C
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000433641
  ensembl transcript: ENST00000527077
  gene symbol: SLC44A3
  hgvsc: ENST00000527077.1:c.467-9A>C
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237416
  ensembl transcript: ENST00000422162
  gene symbol: RP11-465K1.2
  hgvsc: ENST00000422162.1:n.423-898T>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000389143
  ensembl transcript: ENST00000446120
  gene symbol: SLC44A3
  hgvsc: ENST00000446120.2:c.563-9A>C
  variant of: http://identifiers.org/hgnc/28689
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5947
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5638
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5232
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3970
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6369
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2356
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5271
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1680
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3347
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6538
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5922
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4409
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3184
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1663
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/1-95305504-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95305504
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 95305504
    reference: chr 1
allele count: 156
allele frequency: 1.285198793890363e-3
allele num: 121382
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000434457
  ensembl transcript: ENST00000475883
  gene symbol: SLC44A3
  hgvsc: ENST00000475883.1:c.*394C>A
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000432789
  ensembl transcript: ENST00000467909
  gene symbol: SLC44A3
  hgvsc: ENST00000467909.1:c.527C>A
  hgvsp: ENSP00000432789.1:p.Ala176Asp
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000433641
  ensembl transcript: ENST00000527077
  gene symbol: SLC44A3
  hgvsc: ENST00000527077.1:c.467C>A
  hgvsp: ENSP00000433641.1:p.Ala156Asp
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143036
  ensembl transcript: ENST00000530397
  gene symbol: SLC44A3
  hgvsc: ENST00000530397.1:n.365C>A
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000431836
  ensembl transcript: ENST00000529450
  gene symbol: SLC44A3
  hgvsc: ENST00000529450.1:c.575C>A
  hgvsp: ENSP00000431836.1:p.Ala192Asp
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237416
  ensembl transcript: ENST00000422162
  gene symbol: RP11-465K1.2
  hgvsc: ENST00000422162.1:n.423-907G>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000436661
  ensembl transcript: ENST00000532427
  gene symbol: SLC44A3
  hgvsc: ENST00000532427.1:c.431C>A
  hgvsp: ENSP00000436661.1:p.Ala144Asp
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000389143
  ensembl transcript: ENST00000446120
  gene symbol: SLC44A3
  hgvsc: ENST00000446120.2:c.563C>A
  hgvsp: ENSP00000389143.2:p.Ala188Asp
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000271227
  ensembl transcript: ENST00000271227
  gene symbol: SLC44A3
  hgvsc: ENST00000271227.6:c.671C>A
  hgvsp: ENSP00000271227.6:p.Ala224Asp
  variant of: http://identifiers.org/hgnc/28689
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6521
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3980
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6056
  bin: 9.75e1
  variant carriers: 147
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5616
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5266
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5226
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6351
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4394
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2343
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5933
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3336
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3378
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3449
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala224Asp
num of homozygotes: 3
population: African
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ

1-95305548-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95305548
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 95305548
    reference: chr 1
allele count: 2
allele frequency: 1.647500741375333e-5
allele num: 121396
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000432789
  ensembl transcript: ENST00000467909
  gene symbol: SLC44A3
  hgvsc: ENST00000467909.1:c.571C>G
  hgvsp: ENSP00000432789.1:p.Leu191Val
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000389143
  ensembl transcript: ENST00000446120
  gene symbol: SLC44A3
  hgvsc: ENST00000446120.2:c.607C>G
  hgvsp: ENSP00000389143.2:p.Leu203Val
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000431836
  ensembl transcript: ENST00000529450
  gene symbol: SLC44A3
  hgvsc: ENST00000529450.1:c.619C>G
  hgvsp: ENSP00000431836.1:p.Leu207Val
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000433641
  ensembl transcript: ENST00000527077
  gene symbol: SLC44A3
  hgvsc: ENST00000527077.1:c.511C>G
  hgvsp: ENSP00000433641.1:p.Leu171Val
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000436661
  ensembl transcript: ENST00000532427
  gene symbol: SLC44A3
  hgvsc: ENST00000532427.1:c.475C>G
  hgvsp: ENSP00000436661.1:p.Leu159Val
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143036
  ensembl transcript: ENST00000530397
  gene symbol: SLC44A3
  hgvsc: ENST00000530397.1:n.409C>G
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237416
  ensembl transcript: ENST00000422162
  gene symbol: RP11-465K1.2
  hgvsc: ENST00000422162.1:n.423-951G>C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000434457
  ensembl transcript: ENST00000475883
  gene symbol: SLC44A3
  hgvsc: ENST00000475883.1:c.*438C>G
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000271227
  ensembl transcript: ENST00000271227
  gene symbol: SLC44A3
  hgvsc: ENST00000271227.6:c.715C>G
  hgvsp: ENSP00000271227.6:p.Leu239Val
  variant of: http://identifiers.org/hgnc/28689
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2349
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5925
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5281
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5245
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3341
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3995
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6368
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5627
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6537
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5948
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu239Val
num of homozygotes: 1
population: African
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

1-95305551-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95305551
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 95305551
    reference: chr 1
allele count: 2
allele frequency: 1.647500741375333e-5
allele num: 121396
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143036
  ensembl transcript: ENST00000530397
  gene symbol: SLC44A3
  hgvsc: ENST00000530397.1:n.412C>G
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000434457
  ensembl transcript: ENST00000475883
  gene symbol: SLC44A3
  hgvsc: ENST00000475883.1:c.*441C>G
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000436661
  ensembl transcript: ENST00000532427
  gene symbol: SLC44A3
  hgvsc: ENST00000532427.1:c.478C>G
  hgvsp: ENSP00000436661.1:p.Leu160Val
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000271227
  ensembl transcript: ENST00000271227
  gene symbol: SLC44A3
  hgvsc: ENST00000271227.6:c.718C>G
  hgvsp: ENSP00000271227.6:p.Leu240Val
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237416
  ensembl transcript: ENST00000422162
  gene symbol: RP11-465K1.2
  hgvsc: ENST00000422162.1:n.423-954G>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000389143
  ensembl transcript: ENST00000446120
  gene symbol: SLC44A3
  hgvsc: ENST00000446120.2:c.610C>G
  hgvsp: ENSP00000389143.2:p.Leu204Val
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000433641
  ensembl transcript: ENST00000527077
  gene symbol: SLC44A3
  hgvsc: ENST00000527077.1:c.514C>G
  hgvsp: ENSP00000433641.1:p.Leu172Val
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000431836
  ensembl transcript: ENST00000529450
  gene symbol: SLC44A3
  hgvsc: ENST00000529450.1:c.622C>G
  hgvsp: ENSP00000431836.1:p.Leu208Val
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000432789
  ensembl transcript: ENST00000467909
  gene symbol: SLC44A3
  hgvsc: ENST00000467909.1:c.574C>G
  hgvsp: ENSP00000432789.1:p.Leu192Val
  variant of: http://identifiers.org/hgnc/28689
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6537
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5628
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3995
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5924
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5948
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5245
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5282
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2349
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6368
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3341
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1665
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37308
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Leu240Val
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

1-95305553-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95305553
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 95305553
    reference: chr 1
allele count: 433
allele frequency: 3.566839105077597e-3
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000436661
  ensembl transcript: ENST00000532427
  gene symbol: SLC44A3
  hgvsc: ENST00000532427.1:c.480G>A
  hgvsp: ENST00000532427.1:c.480G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000433641
  ensembl transcript: ENST00000527077
  gene symbol: SLC44A3
  hgvsc: ENST00000527077.1:c.516G>A
  hgvsp: ENST00000527077.1:c.516G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000432789
  ensembl transcript: ENST00000467909
  gene symbol: SLC44A3
  hgvsc: ENST00000467909.1:c.576G>A
  hgvsp: ENST00000467909.1:c.576G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143036
  ensembl transcript: ENST00000530397
  gene symbol: SLC44A3
  hgvsc: ENST00000530397.1:n.414G>A
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000389143
  ensembl transcript: ENST00000446120
  gene symbol: SLC44A3
  hgvsc: ENST00000446120.2:c.612G>A
  hgvsp: ENST00000446120.2:c.612G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000431836
  ensembl transcript: ENST00000529450
  gene symbol: SLC44A3
  hgvsc: ENST00000529450.1:c.624G>A
  hgvsp: ENST00000529450.1:c.624G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000434457
  ensembl transcript: ENST00000475883
  gene symbol: SLC44A3
  hgvsc: ENST00000475883.1:c.*443G>A
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000271227
  ensembl transcript: ENST00000271227
  gene symbol: SLC44A3
  hgvsc: ENST00000271227.6:c.720G>A
  hgvsp: ENST00000271227.6:c.720G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237416
  ensembl transcript: ENST00000422162
  gene symbol: RP11-465K1.2
  hgvsc: ENST00000422162.1:n.423-956C>T
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3295
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5931
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6326
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5577
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6292
  bin: 9.75e1
  variant carriers: 413
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3987
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1503
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5233
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4366
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6511
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5270
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3386
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3186
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu240Leu
num of homozygotes: 13
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ

1-95305559-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95305559
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 95305559
    reference: chr 1
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000434457
  ensembl transcript: ENST00000475883
  gene symbol: SLC44A3
  hgvsc: ENST00000475883.1:c.*449C>T
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237416
  ensembl transcript: ENST00000422162
  gene symbol: RP11-465K1.2
  hgvsc: ENST00000422162.1:n.423-962G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000436661
  ensembl transcript: ENST00000532427
  gene symbol: SLC44A3
  hgvsc: ENST00000532427.1:c.486C>T
  hgvsp: ENST00000532427.1:c.486C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143036
  ensembl transcript: ENST00000530397
  gene symbol: SLC44A3
  hgvsc: ENST00000530397.1:n.420C>T
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000433641
  ensembl transcript: ENST00000527077
  gene symbol: SLC44A3
  hgvsc: ENST00000527077.1:c.522C>T
  hgvsp: ENST00000527077.1:c.522C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000389143
  ensembl transcript: ENST00000446120
  gene symbol: SLC44A3
  hgvsc: ENST00000446120.2:c.618C>T
  hgvsp: ENST00000446120.2:c.618C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000431836
  ensembl transcript: ENST00000529450
  gene symbol: SLC44A3
  hgvsc: ENST00000529450.1:c.630C>T
  hgvsp: ENST00000529450.1:c.630C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000271227
  ensembl transcript: ENST00000271227
  gene symbol: SLC44A3
  hgvsc: ENST00000271227.6:c.726C>T
  hgvsp: ENST00000271227.6:c.726C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000432789
  ensembl transcript: ENST00000467909
  gene symbol: SLC44A3
  hgvsc: ENST00000467909.1:c.582C>T
  hgvsp: ENST00000467909.1:c.582C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28689
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5613
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4398
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5907
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4014
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3321
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6370
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5267
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5324
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5982
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2326
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6560
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3208
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
hgvs: p.His242His
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/1-95305566-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95305566
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 95305566
    reference: chr 1
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000436661
  ensembl transcript: ENST00000532427
  gene symbol: SLC44A3
  hgvsc: ENST00000532427.1:c.493A>C
  hgvsp: ENSP00000436661.1:p.Ile165Leu
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000431836
  ensembl transcript: ENST00000529450
  gene symbol: SLC44A3
  hgvsc: ENST00000529450.1:c.637A>C
  hgvsp: ENSP00000431836.1:p.Ile213Leu
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000433641
  ensembl transcript: ENST00000527077
  gene symbol: SLC44A3
  hgvsc: ENST00000527077.1:c.529A>C
  hgvsp: ENSP00000433641.1:p.Ile177Leu
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143036
  ensembl transcript: ENST00000530397
  gene symbol: SLC44A3
  hgvsc: ENST00000530397.1:n.427A>C
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000271227
  ensembl transcript: ENST00000271227
  gene symbol: SLC44A3
  hgvsc: ENST00000271227.6:c.733A>C
  hgvsp: ENSP00000271227.6:p.Ile245Leu
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000434457
  ensembl transcript: ENST00000475883
  gene symbol: SLC44A3
  hgvsc: ENST00000475883.1:c.*456A>C
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237416
  ensembl transcript: ENST00000422162
  gene symbol: RP11-465K1.2
  hgvsc: ENST00000422162.1:n.423-969T>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000389143
  ensembl transcript: ENST00000446120
  gene symbol: SLC44A3
  hgvsc: ENST00000446120.2:c.625A>C
  hgvsp: ENSP00000389143.2:p.Ile209Leu
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000432789
  ensembl transcript: ENST00000467909
  gene symbol: SLC44A3
  hgvsc: ENST00000467909.1:c.589A>C
  hgvsp: ENSP00000432789.1:p.Ile197Leu
  variant of: http://identifiers.org/hgnc/28689
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5267
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5614
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5324
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4014
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4398
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3320
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5982
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6370
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1680
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6560
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2326
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5907
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ile245Leu
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

1-95305572-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95305572
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 95305572
    reference: chr 1
allele count: 8
allele frequency: 6.590220113351786e-5
allele num: 121392
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000432789
  ensembl transcript: ENST00000467909
  gene symbol: SLC44A3
  hgvsc: ENST00000467909.1:c.595T>C
  hgvsp: ENST00000467909.1:c.595T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237416
  ensembl transcript: ENST00000422162
  gene symbol: RP11-465K1.2
  hgvsc: ENST00000422162.1:n.423-975A>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000436661
  ensembl transcript: ENST00000532427
  gene symbol: SLC44A3
  hgvsc: ENST00000532427.1:c.499T>C
  hgvsp: ENST00000532427.1:c.499T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000271227
  ensembl transcript: ENST00000271227
  gene symbol: SLC44A3
  hgvsc: ENST00000271227.6:c.739T>C
  hgvsp: ENST00000271227.6:c.739T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000389143
  ensembl transcript: ENST00000446120
  gene symbol: SLC44A3
  hgvsc: ENST00000446120.2:c.631T>C
  hgvsp: ENST00000446120.2:c.631T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000433641
  ensembl transcript: ENST00000527077
  gene symbol: SLC44A3
  hgvsc: ENST00000527077.1:c.535T>C
  hgvsp: ENST00000527077.1:c.535T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000434457
  ensembl transcript: ENST00000475883
  gene symbol: SLC44A3
  hgvsc: ENST00000475883.1:c.*462T>C
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143036
  ensembl transcript: ENST00000530397
  gene symbol: SLC44A3
  hgvsc: ENST00000530397.1:n.433T>C
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000431836
  ensembl transcript: ENST00000529450
  gene symbol: SLC44A3
  hgvsc: ENST00000529450.1:c.643T>C
  hgvsp: ENST00000529450.1:c.643T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28689
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3321
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5910
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 5325
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5267
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4012
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2326
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1680
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5614
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6370
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6560
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4397
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5982
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2959
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu247Leu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-95305578-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95305578
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 95305578
    reference: chr 1
allele count: 3
allele frequency: 2.47133254250692e-5
allele num: 121392
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000271227
  ensembl transcript: ENST00000271227
  gene symbol: SLC44A3
  hgvsc: ENST00000271227.6:c.745A>G
  hgvsp: ENSP00000271227.6:p.Ile249Val
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000431836
  ensembl transcript: ENST00000529450
  gene symbol: SLC44A3
  hgvsc: ENST00000529450.1:c.649A>G
  hgvsp: ENSP00000431836.1:p.Ile217Val
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000432789
  ensembl transcript: ENST00000467909
  gene symbol: SLC44A3
  hgvsc: ENST00000467909.1:c.601A>G
  hgvsp: ENSP00000432789.1:p.Ile201Val
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000433641
  ensembl transcript: ENST00000527077
  gene symbol: SLC44A3
  hgvsc: ENST00000527077.1:c.541A>G
  hgvsp: ENSP00000433641.1:p.Ile181Val
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000389143
  ensembl transcript: ENST00000446120
  gene symbol: SLC44A3
  hgvsc: ENST00000446120.2:c.637A>G
  hgvsp: ENSP00000389143.2:p.Ile213Val
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000434457
  ensembl transcript: ENST00000475883
  gene symbol: SLC44A3
  hgvsc: ENST00000475883.1:c.*468A>G
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000436661
  ensembl transcript: ENST00000532427
  gene symbol: SLC44A3
  hgvsc: ENST00000532427.1:c.505A>G
  hgvsp: ENSP00000436661.1:p.Ile169Val
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143036
  ensembl transcript: ENST00000530397
  gene symbol: SLC44A3
  hgvsc: ENST00000530397.1:n.439A>G
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237416
  ensembl transcript: ENST00000422162
  gene symbol: RP11-465K1.2
  hgvsc: ENST00000422162.1:n.423-981T>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5325
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6560
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6373
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1680
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5982
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5614
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5268
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4011
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4396
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2326
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3322
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5905
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 7218
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ile249Val
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

1-95305590-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95305590
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 95305590
    reference: chr 1
allele count: 5
allele frequency: 4.119159032491926e-5
allele num: 121384
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000271227
  ensembl transcript: ENST00000271227
  gene symbol: SLC44A3
  hgvsc: ENST00000271227.6:c.757T>C
  hgvsp: ENST00000271227.6:c.757T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000436661
  ensembl transcript: ENST00000532427
  gene symbol: SLC44A3
  hgvsc: ENST00000532427.1:c.517T>C
  hgvsp: ENST00000532427.1:c.517T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000431836
  ensembl transcript: ENST00000529450
  gene symbol: SLC44A3
  hgvsc: ENST00000529450.1:c.661T>C
  hgvsp: ENST00000529450.1:c.661T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143036
  ensembl transcript: ENST00000530397
  gene symbol: SLC44A3
  hgvsc: ENST00000530397.1:n.451T>C
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237416
  ensembl transcript: ENST00000422162
  gene symbol: RP11-465K1.2
  hgvsc: ENST00000422162.1:n.423-993A>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000433641
  ensembl transcript: ENST00000527077
  gene symbol: SLC44A3
  hgvsc: ENST00000527077.1:c.553T>C
  hgvsp: ENST00000527077.1:c.553T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000432789
  ensembl transcript: ENST00000467909
  gene symbol: SLC44A3
  hgvsc: ENST00000467909.1:c.613T>C
  hgvsp: ENST00000467909.1:c.613T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000389143
  ensembl transcript: ENST00000446120
  gene symbol: SLC44A3
  hgvsc: ENST00000446120.2:c.649T>C
  hgvsp: ENST00000446120.2:c.649T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000434457
  ensembl transcript: ENST00000475883
  gene symbol: SLC44A3
  hgvsc: ENST00000475883.1:c.*480T>C
  variant of: http://identifiers.org/hgnc/28689
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4395
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5907
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5613
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6561
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5323
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3322
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4012
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5270
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5983
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6371
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu253Leu
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ

1-95305592-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95305592
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 95305592
    reference: chr 1
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000432789
  ensembl transcript: ENST00000467909
  gene symbol: SLC44A3
  hgvsc: ENST00000467909.1:c.615G>T
  hgvsp: ENSP00000432789.1:p.Leu205Phe
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000434457
  ensembl transcript: ENST00000475883
  gene symbol: SLC44A3
  hgvsc: ENST00000475883.1:c.*482G>T
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000433641
  ensembl transcript: ENST00000527077
  gene symbol: SLC44A3
  hgvsc: ENST00000527077.1:c.555G>T
  hgvsp: ENSP00000433641.1:p.Leu185Phe
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000389143
  ensembl transcript: ENST00000446120
  gene symbol: SLC44A3
  hgvsc: ENST00000446120.2:c.651G>T
  hgvsp: ENSP00000389143.2:p.Leu217Phe
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000436661
  ensembl transcript: ENST00000532427
  gene symbol: SLC44A3
  hgvsc: ENST00000532427.1:c.519G>T
  hgvsp: ENSP00000436661.1:p.Leu173Phe
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143036
  ensembl transcript: ENST00000530397
  gene symbol: SLC44A3
  hgvsc: ENST00000530397.1:n.453G>T
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000431836
  ensembl transcript: ENST00000529450
  gene symbol: SLC44A3
  hgvsc: ENST00000529450.1:c.663G>T
  hgvsp: ENSP00000431836.1:p.Leu221Phe
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000271227
  ensembl transcript: ENST00000271227
  gene symbol: SLC44A3
  hgvsc: ENST00000271227.6:c.759G>T
  hgvsp: ENSP00000271227.6:p.Leu253Phe
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237416
  ensembl transcript: ENST00000422162
  gene symbol: RP11-465K1.2
  hgvsc: ENST00000422162.1:n.423-995C>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5325
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2326
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3321
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4009
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5983
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6372
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4395
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5904
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6562
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5270
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5613
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu253Phe
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

1-95305596-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95305596
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 95305596
    reference: chr 1
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237416
  ensembl transcript: ENST00000422162
  gene symbol: RP11-465K1.2
  hgvsc: ENST00000422162.1:n.423-999T>C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000432789
  ensembl transcript: ENST00000467909
  gene symbol: SLC44A3
  hgvsc: ENST00000467909.1:c.616+3A>G
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000389143
  ensembl transcript: ENST00000446120
  gene symbol: SLC44A3
  hgvsc: ENST00000446120.2:c.652+3A>G
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000434457
  ensembl transcript: ENST00000475883
  gene symbol: SLC44A3
  hgvsc: ENST00000475883.1:c.*483+3A>G
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl transcript: ENST00000530397
  gene symbol: SLC44A3
  hgvsc: ENST00000530397.1:n.454+3A>G
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000436661
  ensembl transcript: ENST00000532427
  gene symbol: SLC44A3
  hgvsc: ENST00000532427.1:c.520+3A>G
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000271227
  ensembl transcript: ENST00000271227
  gene symbol: SLC44A3
  hgvsc: ENST00000271227.6:c.760+3A>G
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000433641
  ensembl transcript: ENST00000527077
  gene symbol: SLC44A3
  hgvsc: ENST00000527077.1:c.556+3A>G
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000431836
  ensembl transcript: ENST00000529450
  gene symbol: SLC44A3
  hgvsc: ENST00000529450.1:c.664+3A>G
  variant of: http://identifiers.org/hgnc/28689
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5324
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4395
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2326
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3321
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5984
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1665
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5269
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4008
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6561
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5612
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6372
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5905
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1586
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37134
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: c.760+3A>G
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
population: South Asian
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD

1-95305607-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95305607
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 95305607
    reference: chr 1
allele count: 2
allele frequency: 1.647935137272997e-5
allele num: 121364
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000431836
  ensembl transcript: ENST00000529450
  gene symbol: SLC44A3
  hgvsc: ENST00000529450.1:c.664+14T>A
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000433641
  ensembl transcript: ENST00000527077
  gene symbol: SLC44A3
  hgvsc: ENST00000527077.1:c.556+14T>A
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000271227
  ensembl transcript: ENST00000271227
  gene symbol: SLC44A3
  hgvsc: ENST00000271227.6:c.760+14T>A
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237416
  ensembl transcript: ENST00000422162
  gene symbol: RP11-465K1.2
  hgvsc: ENST00000422162.1:n.423-1010A>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000389143
  ensembl transcript: ENST00000446120
  gene symbol: SLC44A3
  hgvsc: ENST00000446120.2:c.652+14T>A
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000434457
  ensembl transcript: ENST00000475883
  gene symbol: SLC44A3
  hgvsc: ENST00000475883.1:c.*483+14T>A
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000436661
  ensembl transcript: ENST00000532427
  gene symbol: SLC44A3
  hgvsc: ENST00000532427.1:c.520+14T>A
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl transcript: ENST00000530397
  gene symbol: SLC44A3
  hgvsc: ENST00000530397.1:n.454+14T>A
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000432789
  ensembl transcript: ENST00000467909
  gene symbol: SLC44A3
  hgvsc: ENST00000467909.1:c.616+14T>A
  variant of: http://identifiers.org/hgnc/28689
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4007
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4396
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5262
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5324
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5983
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2325
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3321
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6371
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6563
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5905
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5610
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1583
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1670
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum

1-95305609-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95305609
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 95305609
    reference: chr 1
allele count: 19
allele frequency: 1.565718994643593e-4
allele num: 121350
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000432789
  ensembl transcript: ENST00000467909
  gene symbol: SLC44A3
  hgvsc: ENST00000467909.1:c.616+16C>G
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000389143
  ensembl transcript: ENST00000446120
  gene symbol: SLC44A3
  hgvsc: ENST00000446120.2:c.652+16C>G
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237416
  ensembl transcript: ENST00000422162
  gene symbol: RP11-465K1.2
  hgvsc: ENST00000422162.1:n.423-1012G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000436661
  ensembl transcript: ENST00000532427
  gene symbol: SLC44A3
  hgvsc: ENST00000532427.1:c.520+16C>G
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000431836
  ensembl transcript: ENST00000529450
  gene symbol: SLC44A3
  hgvsc: ENST00000529450.1:c.664+16C>G
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000433641
  ensembl transcript: ENST00000527077
  gene symbol: SLC44A3
  hgvsc: ENST00000527077.1:c.556+16C>G
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl transcript: ENST00000530397
  gene symbol: SLC44A3
  hgvsc: ENST00000530397.1:n.454+16C>G
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000434457
  ensembl transcript: ENST00000475883
  gene symbol: SLC44A3
  hgvsc: ENST00000475883.1:c.*483+16C>G
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000271227
  ensembl transcript: ENST00000271227
  gene symbol: SLC44A3
  hgvsc: ENST00000271227.6:c.760+16C>G
  variant of: http://identifiers.org/hgnc/28689
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3321
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4007
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4395
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5259
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2324
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5325
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5911
  bin: 9.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 6561
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5611
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6370
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5982
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum

1-95305611-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95305611
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 95305611
    reference: chr 1
allele count: 12
allele frequency: 9.88793671720501e-5
allele num: 121360
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237416
  ensembl transcript: ENST00000422162
  gene symbol: RP11-465K1.2
  hgvsc: ENST00000422162.1:n.423-1014A>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000431836
  ensembl transcript: ENST00000529450
  gene symbol: SLC44A3
  hgvsc: ENST00000529450.1:c.664+18T>A
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000433641
  ensembl transcript: ENST00000527077
  gene symbol: SLC44A3
  hgvsc: ENST00000527077.1:c.556+18T>A
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000271227
  ensembl transcript: ENST00000271227
  gene symbol: SLC44A3
  hgvsc: ENST00000271227.6:c.760+18T>A
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000436661
  ensembl transcript: ENST00000532427
  gene symbol: SLC44A3
  hgvsc: ENST00000532427.1:c.520+18T>A
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000389143
  ensembl transcript: ENST00000446120
  gene symbol: SLC44A3
  hgvsc: ENST00000446120.2:c.652+18T>A
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl transcript: ENST00000530397
  gene symbol: SLC44A3
  hgvsc: ENST00000530397.1:n.454+18T>A
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000432789
  ensembl transcript: ENST00000467909
  gene symbol: SLC44A3
  hgvsc: ENST00000467909.1:c.616+18T>A
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000434457
  ensembl transcript: ENST00000475883
  gene symbol: SLC44A3
  hgvsc: ENST00000475883.1:c.*483+18T>A
  variant of: http://identifiers.org/hgnc/28689
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5258
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5611
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5984
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4009
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6561
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3319
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4396
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6369
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5324
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2325
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5904
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3420
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3473
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3208
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

1-95305620-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95305620
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 95305619
    reference: chr 1
allele count: 1
allele frequency: 8.242528148233626e-6
allele num: 121322
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000431836
  ensembl transcript: ENST00000529450
  gene symbol: SLC44A3
  hgvsc: ENST00000529450.1:c.664+28delC
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000271227
  ensembl transcript: ENST00000271227
  gene symbol: SLC44A3
  hgvsc: ENST00000271227.6:c.760+28delC
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237416
  ensembl transcript: ENST00000422162
  gene symbol: RP11-465K1.2
  hgvsc: ENST00000422162.1:n.423-1024delG
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl transcript: ENST00000530397
  gene symbol: SLC44A3
  hgvsc: ENST00000530397.1:n.454+28delC
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000433641
  ensembl transcript: ENST00000527077
  gene symbol: SLC44A3
  hgvsc: ENST00000527077.1:c.556+28delC
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000389143
  ensembl transcript: ENST00000446120
  gene symbol: SLC44A3
  hgvsc: ENST00000446120.2:c.652+28delC
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000432789
  ensembl transcript: ENST00000467909
  gene symbol: SLC44A3
  hgvsc: ENST00000467909.1:c.616+28delC
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000434457
  ensembl transcript: ENST00000475883
  gene symbol: SLC44A3
  hgvsc: ENST00000475883.1:c.*483+28delC
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000436661
  ensembl transcript: ENST00000532427
  gene symbol: SLC44A3
  hgvsc: ENST00000532427.1:c.520+28delC
  variant of: http://identifiers.org/hgnc/28689
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5900
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5299
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5611
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5216
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6556
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3942
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4395
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2326
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5985
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6372
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1672
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3419
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: TC
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

1-95305626-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95305626
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 95305626
    reference: chr 1
allele count: 3
allele frequency: 2.473451619286327e-5
allele num: 121288
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000432789
  ensembl transcript: ENST00000467909
  gene symbol: SLC44A3
  hgvsc: ENST00000467909.1:c.616+33C>T
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237416
  ensembl transcript: ENST00000422162
  gene symbol: RP11-465K1.2
  hgvsc: ENST00000422162.1:n.423-1029G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000271227
  ensembl transcript: ENST00000271227
  gene symbol: SLC44A3
  hgvsc: ENST00000271227.6:c.760+33C>T
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl transcript: ENST00000530397
  gene symbol: SLC44A3
  hgvsc: ENST00000530397.1:n.454+33C>T
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000433641
  ensembl transcript: ENST00000527077
  gene symbol: SLC44A3
  hgvsc: ENST00000527077.1:c.556+33C>T
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000434457
  ensembl transcript: ENST00000475883
  gene symbol: SLC44A3
  hgvsc: ENST00000475883.1:c.*483+33C>T
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000389143
  ensembl transcript: ENST00000446120
  gene symbol: SLC44A3
  hgvsc: ENST00000446120.2:c.652+33C>T
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000436661
  ensembl transcript: ENST00000532427
  gene symbol: SLC44A3
  hgvsc: ENST00000532427.1:c.520+33C>T
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000431836
  ensembl transcript: ENST00000529450
  gene symbol: SLC44A3
  hgvsc: ENST00000529450.1:c.664+33C>T
  variant of: http://identifiers.org/hgnc/28689
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5258
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5967
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2326
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5612
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3840
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4395
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1442
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5899
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6372
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5140
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6551
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3349
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

1-95305627-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95305627
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 95305627
    reference: chr 1
allele count: 12
allele frequency: 9.894132779261898e-5
allele num: 121284
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000434457
  ensembl transcript: ENST00000475883
  gene symbol: SLC44A3
  hgvsc: ENST00000475883.1:c.*483+34G>A
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000436661
  ensembl transcript: ENST00000532427
  gene symbol: SLC44A3
  hgvsc: ENST00000532427.1:c.520+34G>A
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000433641
  ensembl transcript: ENST00000527077
  gene symbol: SLC44A3
  hgvsc: ENST00000527077.1:c.556+34G>A
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000271227
  ensembl transcript: ENST00000271227
  gene symbol: SLC44A3
  hgvsc: ENST00000271227.6:c.760+34G>A
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237416
  ensembl transcript: ENST00000422162
  gene symbol: RP11-465K1.2
  hgvsc: ENST00000422162.1:n.423-1030C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl transcript: ENST00000530397
  gene symbol: SLC44A3
  hgvsc: ENST00000530397.1:n.454+34G>A
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000431836
  ensembl transcript: ENST00000529450
  gene symbol: SLC44A3
  hgvsc: ENST00000529450.1:c.664+34G>A
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000432789
  ensembl transcript: ENST00000467909
  gene symbol: SLC44A3
  hgvsc: ENST00000467909.1:c.616+34G>A
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000389143
  ensembl transcript: ENST00000446120
  gene symbol: SLC44A3
  hgvsc: ENST00000446120.2:c.652+34G>A
  variant of: http://identifiers.org/hgnc/28689
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6551
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4398
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2326
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3319
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3847
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5106
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5965
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5243
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6370
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5900
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5611
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3198
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-95305628-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95305628
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 95305628
    reference: chr 1
allele count: 1
allele frequency: 8.244838730954422e-6
allele num: 121288
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000432789
  ensembl transcript: ENST00000467909
  gene symbol: SLC44A3
  hgvsc: ENST00000467909.1:c.616+35A>G
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000431836
  ensembl transcript: ENST00000529450
  gene symbol: SLC44A3
  hgvsc: ENST00000529450.1:c.664+35A>G
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000434457
  ensembl transcript: ENST00000475883
  gene symbol: SLC44A3
  hgvsc: ENST00000475883.1:c.*483+35A>G
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl transcript: ENST00000530397
  gene symbol: SLC44A3
  hgvsc: ENST00000530397.1:n.454+35A>G
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237416
  ensembl transcript: ENST00000422162
  gene symbol: RP11-465K1.2
  hgvsc: ENST00000422162.1:n.423-1031T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000433641
  ensembl transcript: ENST00000527077
  gene symbol: SLC44A3
  hgvsc: ENST00000527077.1:c.556+35A>G
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000271227
  ensembl transcript: ENST00000271227
  gene symbol: SLC44A3
  hgvsc: ENST00000271227.6:c.760+35A>G
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000389143
  ensembl transcript: ENST00000446120
  gene symbol: SLC44A3
  hgvsc: ENST00000446120.2:c.652+35A>G
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000436661
  ensembl transcript: ENST00000532427
  gene symbol: SLC44A3
  hgvsc: ENST00000532427.1:c.520+35A>G
  variant of: http://identifiers.org/hgnc/28689
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5610
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2326
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5053
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4398
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6370
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5957
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3807
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5225
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6550
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5900
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3416
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3199
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS

1-95305628-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95305628
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 95305628
    reference: chr 1
allele count: 12
allele frequency: 9.893806477145307e-5
allele num: 121288
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237416
  ensembl transcript: ENST00000422162
  gene symbol: RP11-465K1.2
  hgvsc: ENST00000422162.1:n.423-1031T>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000271227
  ensembl transcript: ENST00000271227
  gene symbol: SLC44A3
  hgvsc: ENST00000271227.6:c.760+35A>T
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000431836
  ensembl transcript: ENST00000529450
  gene symbol: SLC44A3
  hgvsc: ENST00000529450.1:c.664+35A>T
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000432789
  ensembl transcript: ENST00000467909
  gene symbol: SLC44A3
  hgvsc: ENST00000467909.1:c.616+35A>T
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000433641
  ensembl transcript: ENST00000527077
  gene symbol: SLC44A3
  hgvsc: ENST00000527077.1:c.556+35A>T
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000436661
  ensembl transcript: ENST00000532427
  gene symbol: SLC44A3
  hgvsc: ENST00000532427.1:c.520+35A>T
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000434457
  ensembl transcript: ENST00000475883
  gene symbol: SLC44A3
  hgvsc: ENST00000475883.1:c.*483+35A>T
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl transcript: ENST00000530397
  gene symbol: SLC44A3
  hgvsc: ENST00000530397.1:n.454+35A>T
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000389143
  ensembl transcript: ENST00000446120
  gene symbol: SLC44A3
  hgvsc: ENST00000446120.2:c.652+35A>T
  variant of: http://identifiers.org/hgnc/28689
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5053
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2326
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3807
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5957
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4398
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6550
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6370
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5610
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5225
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5900
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2943
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3199
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: Latino
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

1-95305630-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95305630
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 95305630
    reference: chr 1
allele count: 1
allele frequency: 8.245110649384915e-6
allele num: 121284
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000434457
  ensembl transcript: ENST00000475883
  gene symbol: SLC44A3
  hgvsc: ENST00000475883.1:c.*483+37T>C
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000436661
  ensembl transcript: ENST00000532427
  gene symbol: SLC44A3
  hgvsc: ENST00000532427.1:c.520+37T>C
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000432789
  ensembl transcript: ENST00000467909
  gene symbol: SLC44A3
  hgvsc: ENST00000467909.1:c.616+37T>C
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237416
  ensembl transcript: ENST00000422162
  gene symbol: RP11-465K1.2
  hgvsc: ENST00000422162.1:n.423-1033A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl transcript: ENST00000530397
  gene symbol: SLC44A3
  hgvsc: ENST00000530397.1:n.454+37T>C
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000433641
  ensembl transcript: ENST00000527077
  gene symbol: SLC44A3
  hgvsc: ENST00000527077.1:c.556+37T>C
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000389143
  ensembl transcript: ENST00000446120
  gene symbol: SLC44A3
  hgvsc: ENST00000446120.2:c.652+37T>C
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000431836
  ensembl transcript: ENST00000529450
  gene symbol: SLC44A3
  hgvsc: ENST00000529450.1:c.664+37T>C
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000271227
  ensembl transcript: ENST00000271227
  gene symbol: SLC44A3
  hgvsc: ENST00000271227.6:c.760+37T>C
  variant of: http://identifiers.org/hgnc/28689
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5216
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4395
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5025
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6551
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6371
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5951
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3776
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3319
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5898
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2326
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5609
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6357
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3414
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2941
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37113
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD

1-95305638-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95305638
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 95305638
    reference: chr 1
allele count: 3
allele frequency: 2.474879968321537e-5
allele num: 121218
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl transcript: ENST00000530397
  gene symbol: SLC44A3
  hgvsc: ENST00000530397.1:n.454+45A>T
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000432789
  ensembl transcript: ENST00000467909
  gene symbol: SLC44A3
  hgvsc: ENST00000467909.1:c.616+45A>T
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000389143
  ensembl transcript: ENST00000446120
  gene symbol: SLC44A3
  hgvsc: ENST00000446120.2:c.652+45A>T
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000271227
  ensembl transcript: ENST00000271227
  gene symbol: SLC44A3
  hgvsc: ENST00000271227.6:c.760+45A>T
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237416
  ensembl transcript: ENST00000422162
  gene symbol: RP11-465K1.2
  hgvsc: ENST00000422162.1:n.423-1041T>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000433641
  ensembl transcript: ENST00000527077
  gene symbol: SLC44A3
  hgvsc: ENST00000527077.1:c.556+45A>T
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000436661
  ensembl transcript: ENST00000532427
  gene symbol: SLC44A3
  hgvsc: ENST00000532427.1:c.520+45A>T
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000434457
  ensembl transcript: ENST00000475883
  gene symbol: SLC44A3
  hgvsc: ENST00000475883.1:c.*483+45A>T
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000431836
  ensembl transcript: ENST00000529450
  gene symbol: SLC44A3
  hgvsc: ENST00000529450.1:c.664+45A>T
  variant of: http://identifiers.org/hgnc/28689
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6371
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5932
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4637
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4395
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5110
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3284
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1977
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6543
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5608
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5898
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2326
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2925
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1537
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

1-95305643-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95305643
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 95305643
    reference: chr 1
allele count: 7
allele frequency: 5.778628978998811e-5
allele num: 121136
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000432789
  ensembl transcript: ENST00000467909
  gene symbol: SLC44A3
  hgvsc: ENST00000467909.1:c.616+50T>A
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000434457
  ensembl transcript: ENST00000475883
  gene symbol: SLC44A3
  hgvsc: ENST00000475883.1:c.*483+50T>A
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000431836
  ensembl transcript: ENST00000529450
  gene symbol: SLC44A3
  hgvsc: ENST00000529450.1:c.664+50T>A
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000436661
  ensembl transcript: ENST00000532427
  gene symbol: SLC44A3
  hgvsc: ENST00000532427.1:c.520+50T>A
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000389143
  ensembl transcript: ENST00000446120
  gene symbol: SLC44A3
  hgvsc: ENST00000446120.2:c.652+50T>A
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000433641
  ensembl transcript: ENST00000527077
  gene symbol: SLC44A3
  hgvsc: ENST00000527077.1:c.556+50T>A
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl transcript: ENST00000530397
  gene symbol: SLC44A3
  hgvsc: ENST00000530397.1:n.454+50T>A
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237416
  ensembl transcript: ENST00000422162
  gene symbol: RP11-465K1.2
  hgvsc: ENST00000422162.1:n.423-1046A>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000271227
  ensembl transcript: ENST00000271227
  gene symbol: SLC44A3
  hgvsc: ENST00000271227.6:c.760+50T>A
  variant of: http://identifiers.org/hgnc/28689
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5608
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4395
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3340
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4387
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5926
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2233
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6371
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6535
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3317
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5058
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2326
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5897
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3186
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37106
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3015
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-95307506-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95307506
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 95307506
    reference: chr 1
allele count: 2
allele frequency: 1.718242581487655e-5
allele num: 116398
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000433641
  ensembl transcript: ENST00000527077
  gene symbol: SLC44A3
  hgvsc: ENST00000527077.1:c.557-50G>C
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl transcript: ENST00000530397
  gene symbol: SLC44A3
  hgvsc: ENST00000530397.1:n.455-50G>C
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237416
  ensembl transcript: ENST00000422162
  gene symbol: RP11-465K1.2
  hgvsc: ENST00000422162.1:n.422+1406C>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000271227
  ensembl transcript: ENST00000271227
  gene symbol: SLC44A3
  hgvsc: ENST00000271227.6:c.761-50G>C
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000434457
  ensembl transcript: ENST00000475883
  gene symbol: SLC44A3
  hgvsc: ENST00000475883.1:c.*484-50G>C
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000432789
  ensembl transcript: ENST00000467909
  gene symbol: SLC44A3
  hgvsc: ENST00000467909.1:c.617-50G>C
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000436661
  ensembl transcript: ENST00000532427
  gene symbol: SLC44A3
  hgvsc: ENST00000532427.1:c.521-50G>C
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000389143
  ensembl transcript: ENST00000446120
  gene symbol: SLC44A3
  hgvsc: ENST00000446120.2:c.653-50G>C
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000431836
  ensembl transcript: ENST00000529450
  gene symbol: SLC44A3
  hgvsc: ENST00000529450.1:c.665-50G>C
  variant of: http://identifiers.org/hgnc/28689
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2322
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5474
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4671
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4338
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3649
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5397
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2204
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2138
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2984
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2310
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5095
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5153
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7646
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51251
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1008
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

1-95307506-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95307506
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 95307506
    reference: chr 1
allele count: 1
allele frequency: 8.591212907438273e-6
allele num: 116398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl transcript: ENST00000530397
  gene symbol: SLC44A3
  hgvsc: ENST00000530397.1:n.455-50G>A
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237416
  ensembl transcript: ENST00000422162
  gene symbol: RP11-465K1.2
  hgvsc: ENST00000422162.1:n.422+1406C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000431836
  ensembl transcript: ENST00000529450
  gene symbol: SLC44A3
  hgvsc: ENST00000529450.1:c.665-50G>A
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000433641
  ensembl transcript: ENST00000527077
  gene symbol: SLC44A3
  hgvsc: ENST00000527077.1:c.557-50G>A
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000271227
  ensembl transcript: ENST00000271227
  gene symbol: SLC44A3
  hgvsc: ENST00000271227.6:c.761-50G>A
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000389143
  ensembl transcript: ENST00000446120
  gene symbol: SLC44A3
  hgvsc: ENST00000446120.2:c.653-50G>A
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000434457
  ensembl transcript: ENST00000475883
  gene symbol: SLC44A3
  hgvsc: ENST00000475883.1:c.*484-50G>A
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000432789
  ensembl transcript: ENST00000467909
  gene symbol: SLC44A3
  hgvsc: ENST00000467909.1:c.617-50G>A
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000436661
  ensembl transcript: ENST00000532427
  gene symbol: SLC44A3
  hgvsc: ENST00000532427.1:c.521-50G>A
  variant of: http://identifiers.org/hgnc/28689
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5153
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5397
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2138
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2322
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2204
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5095
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2310
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3649
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4338
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5474
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7646
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4671
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2984
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 935
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1622
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1008
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum

1-95307506-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95307506
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 95307506
    reference: chr 1
allele count: 1
allele frequency: 8.591212907438273e-6
allele num: 116398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000432789
  ensembl transcript: ENST00000467909
  gene symbol: SLC44A3
  hgvsc: ENST00000467909.1:c.617-50G>T
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000431836
  ensembl transcript: ENST00000529450
  gene symbol: SLC44A3
  hgvsc: ENST00000529450.1:c.665-50G>T
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000434457
  ensembl transcript: ENST00000475883
  gene symbol: SLC44A3
  hgvsc: ENST00000475883.1:c.*484-50G>T
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl transcript: ENST00000530397
  gene symbol: SLC44A3
  hgvsc: ENST00000530397.1:n.455-50G>T
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237416
  ensembl transcript: ENST00000422162
  gene symbol: RP11-465K1.2
  hgvsc: ENST00000422162.1:n.422+1406C>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000271227
  ensembl transcript: ENST00000271227
  gene symbol: SLC44A3
  hgvsc: ENST00000271227.6:c.761-50G>T
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000389143
  ensembl transcript: ENST00000446120
  gene symbol: SLC44A3
  hgvsc: ENST00000446120.2:c.653-50G>T
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000433641
  ensembl transcript: ENST00000527077
  gene symbol: SLC44A3
  hgvsc: ENST00000527077.1:c.557-50G>T
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000436661
  ensembl transcript: ENST00000532427
  gene symbol: SLC44A3
  hgvsc: ENST00000532427.1:c.521-50G>T
  variant of: http://identifiers.org/hgnc/28689
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4338
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5397
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2138
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2204
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5474
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4671
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2984
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3649
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5153
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7646
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2322
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2310
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5095
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 935
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1622
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-95307507-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95307507
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 95307507
    reference: chr 1
allele count: 1
allele frequency: 8.590474881451447e-6
allele num: 116408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000389143
  ensembl transcript: ENST00000446120
  gene symbol: SLC44A3
  hgvsc: ENST00000446120.2:c.653-49G>A
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000271227
  ensembl transcript: ENST00000271227
  gene symbol: SLC44A3
  hgvsc: ENST00000271227.6:c.761-49G>A
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl transcript: ENST00000530397
  gene symbol: SLC44A3
  hgvsc: ENST00000530397.1:n.455-49G>A
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000433641
  ensembl transcript: ENST00000527077
  gene symbol: SLC44A3
  hgvsc: ENST00000527077.1:c.557-49G>A
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000431836
  ensembl transcript: ENST00000529450
  gene symbol: SLC44A3
  hgvsc: ENST00000529450.1:c.665-49G>A
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000436661
  ensembl transcript: ENST00000532427
  gene symbol: SLC44A3
  hgvsc: ENST00000532427.1:c.521-49G>A
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237416
  ensembl transcript: ENST00000422162
  gene symbol: RP11-465K1.2
  hgvsc: ENST00000422162.1:n.422+1405C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000434457
  ensembl transcript: ENST00000475883
  gene symbol: SLC44A3
  hgvsc: ENST00000475883.1:c.*484-49G>A
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000432789
  ensembl transcript: ENST00000467909
  gene symbol: SLC44A3
  hgvsc: ENST00000467909.1:c.617-49G>A
  variant of: http://identifiers.org/hgnc/28689
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2200
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2142
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4338
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2984
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4671
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3320
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5474
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5097
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5154
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2310
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7642
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3649
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5397
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2322
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 933
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

1-95307507-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95307507
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 95307507
    reference: chr 1
allele count: 1
allele frequency: 8.590474881451447e-6
allele num: 116408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000389143
  ensembl transcript: ENST00000446120
  gene symbol: SLC44A3
  hgvsc: ENST00000446120.2:c.653-49G>C
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000433641
  ensembl transcript: ENST00000527077
  gene symbol: SLC44A3
  hgvsc: ENST00000527077.1:c.557-49G>C
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237416
  ensembl transcript: ENST00000422162
  gene symbol: RP11-465K1.2
  hgvsc: ENST00000422162.1:n.422+1405C>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000434457
  ensembl transcript: ENST00000475883
  gene symbol: SLC44A3
  hgvsc: ENST00000475883.1:c.*484-49G>C
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000271227
  ensembl transcript: ENST00000271227
  gene symbol: SLC44A3
  hgvsc: ENST00000271227.6:c.761-49G>C
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000436661
  ensembl transcript: ENST00000532427
  gene symbol: SLC44A3
  hgvsc: ENST00000532427.1:c.521-49G>C
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl transcript: ENST00000530397
  gene symbol: SLC44A3
  hgvsc: ENST00000530397.1:n.455-49G>C
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000431836
  ensembl transcript: ENST00000529450
  gene symbol: SLC44A3
  hgvsc: ENST00000529450.1:c.665-49G>C
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000432789
  ensembl transcript: ENST00000467909
  gene symbol: SLC44A3
  hgvsc: ENST00000467909.1:c.617-49G>C
  variant of: http://identifiers.org/hgnc/28689
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4338
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2322
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5397
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5154
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2984
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3649
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2142
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5474
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3320
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5097
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7642
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2200
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4671
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2310
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 933
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

1-95307507-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95307507
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 95307507
    reference: chr 1
allele count: 115
allele frequency: 9.879046113669165e-4
allele num: 116408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000433641
  ensembl transcript: ENST00000527077
  gene symbol: SLC44A3
  hgvsc: ENST00000527077.1:c.557-49G>T
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237416
  ensembl transcript: ENST00000422162
  gene symbol: RP11-465K1.2
  hgvsc: ENST00000422162.1:n.422+1405C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000436661
  ensembl transcript: ENST00000532427
  gene symbol: SLC44A3
  hgvsc: ENST00000532427.1:c.521-49G>T
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl transcript: ENST00000530397
  gene symbol: SLC44A3
  hgvsc: ENST00000530397.1:n.455-49G>T
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000434457
  ensembl transcript: ENST00000475883
  gene symbol: SLC44A3
  hgvsc: ENST00000475883.1:c.*484-49G>T
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000389143
  ensembl transcript: ENST00000446120
  gene symbol: SLC44A3
  hgvsc: ENST00000446120.2:c.653-49G>T
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000271227
  ensembl transcript: ENST00000271227
  gene symbol: SLC44A3
  hgvsc: ENST00000271227.6:c.761-49G>T
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000432789
  ensembl transcript: ENST00000467909
  gene symbol: SLC44A3
  hgvsc: ENST00000467909.1:c.617-49G>T
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000431836
  ensembl transcript: ENST00000529450
  gene symbol: SLC44A3
  hgvsc: ENST00000529450.1:c.665-49G>T
  variant of: http://identifiers.org/hgnc/28689
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2200
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3320
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5154
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2142
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2322
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5397
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4338
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3649
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5474
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4671
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2310
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7642
  bin: 9.75e1
  variant carriers: 112
genotype depth: GenotypeDepth
  all individuals: 2984
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5097
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1637
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1009
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 1
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ

http://identifiers.org/exac.variant/1-95307519-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95307519
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 95307519
    reference: chr 1
allele count: 23
allele frequency: 1.976828136280813e-4
allele num: 116348
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000434457
  ensembl transcript: ENST00000475883
  gene symbol: SLC44A3
  hgvsc: ENST00000475883.1:c.*484-37C>A
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000436661
  ensembl transcript: ENST00000532427
  gene symbol: SLC44A3
  hgvsc: ENST00000532427.1:c.521-37C>A
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000433641
  ensembl transcript: ENST00000527077
  gene symbol: SLC44A3
  hgvsc: ENST00000527077.1:c.557-37C>A
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000271227
  ensembl transcript: ENST00000271227
  gene symbol: SLC44A3
  hgvsc: ENST00000271227.6:c.761-37C>A
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000431836
  ensembl transcript: ENST00000529450
  gene symbol: SLC44A3
  hgvsc: ENST00000529450.1:c.665-37C>A
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237416
  ensembl transcript: ENST00000422162
  gene symbol: RP11-465K1.2
  hgvsc: ENST00000422162.1:n.422+1393G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000389143
  ensembl transcript: ENST00000446120
  gene symbol: SLC44A3
  hgvsc: ENST00000446120.2:c.653-37C>A
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl transcript: ENST00000530397
  gene symbol: SLC44A3
  hgvsc: ENST00000530397.1:n.455-37C>A
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000432789
  ensembl transcript: ENST00000467909
  gene symbol: SLC44A3
  hgvsc: ENST00000467909.1:c.617-37C>A
  variant of: http://identifiers.org/hgnc/28689
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2316
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2116
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5414
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3321
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5113
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5162
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3659
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7535
  bin: 9.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2181
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4680
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5489
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4351
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2990
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2325
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51253
  bin: 9.75e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP

1-95307519-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95307519
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 95307519
    reference: chr 1
allele count: 1
allele frequency: 8.59490494035136e-6
allele num: 116348
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000433641
  ensembl transcript: ENST00000527077
  gene symbol: SLC44A3
  hgvsc: ENST00000527077.1:c.557-37C>T
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000271227
  ensembl transcript: ENST00000271227
  gene symbol: SLC44A3
  hgvsc: ENST00000271227.6:c.761-37C>T
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237416
  ensembl transcript: ENST00000422162
  gene symbol: RP11-465K1.2
  hgvsc: ENST00000422162.1:n.422+1393G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000434457
  ensembl transcript: ENST00000475883
  gene symbol: SLC44A3
  hgvsc: ENST00000475883.1:c.*484-37C>T
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl transcript: ENST00000530397
  gene symbol: SLC44A3
  hgvsc: ENST00000530397.1:n.455-37C>T
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000389143
  ensembl transcript: ENST00000446120
  gene symbol: SLC44A3
  hgvsc: ENST00000446120.2:c.653-37C>T
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000436661
  ensembl transcript: ENST00000532427
  gene symbol: SLC44A3
  hgvsc: ENST00000532427.1:c.521-37C>T
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000432789
  ensembl transcript: ENST00000467909
  gene symbol: SLC44A3
  hgvsc: ENST00000467909.1:c.617-37C>T
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000431836
  ensembl transcript: ENST00000529450
  gene symbol: SLC44A3
  hgvsc: ENST00000529450.1:c.665-37C>T
  variant of: http://identifiers.org/hgnc/28689
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4680
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5162
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5414
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2316
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2325
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2181
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5489
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2116
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2990
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7535
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4351
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3321
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3659
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5113
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1010
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 879
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: MQRankSum

1-95307520-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95307520
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 95307520
    reference: chr 1
allele count: 8
allele frequency: 6.86106346483705e-5
allele num: 116600
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000389143
  ensembl transcript: ENST00000446120
  gene symbol: SLC44A3
  hgvsc: ENST00000446120.2:c.653-36G>A
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl transcript: ENST00000530397
  gene symbol: SLC44A3
  hgvsc: ENST00000530397.1:n.455-36G>A
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237416
  ensembl transcript: ENST00000422162
  gene symbol: RP11-465K1.2
  hgvsc: ENST00000422162.1:n.422+1392C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000434457
  ensembl transcript: ENST00000475883
  gene symbol: SLC44A3
  hgvsc: ENST00000475883.1:c.*484-36G>A
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000433641
  ensembl transcript: ENST00000527077
  gene symbol: SLC44A3
  hgvsc: ENST00000527077.1:c.557-36G>A
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000432789
  ensembl transcript: ENST00000467909
  gene symbol: SLC44A3
  hgvsc: ENST00000467909.1:c.617-36G>A
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000431836
  ensembl transcript: ENST00000529450
  gene symbol: SLC44A3
  hgvsc: ENST00000529450.1:c.665-36G>A
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000436661
  ensembl transcript: ENST00000532427
  gene symbol: SLC44A3
  hgvsc: ENST00000532427.1:c.521-36G>A
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000271227
  ensembl transcript: ENST00000271227
  gene symbol: SLC44A3
  hgvsc: ENST00000271227.6:c.761-36G>A
  variant of: http://identifiers.org/hgnc/28689
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5488
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5162
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2167
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2328
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3322
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7521
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 5115
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4351
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4682
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2316
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2116
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2991
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5417
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3659
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2152
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff

1-95307520-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 95307520
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 95307520
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 116600
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000431836
  ensembl transcript: ENST00000529450
  gene symbol: SLC44A3
  hgvsc: ENST00000529450.1:c.665-36G>C
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000271227
  ensembl transcript: ENST00000271227
  gene symbol: SLC44A3
  hgvsc: ENST00000271227.6:c.761-36G>C
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000433641
  ensembl transcript: ENST00000527077
  gene symbol: SLC44A3
  hgvsc: ENST00000527077.1:c.557-36G>C
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000432789
  ensembl transcript: ENST00000467909
  gene symbol: SLC44A3
  hgvsc: ENST00000467909.1:c.617-36G>C
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237416
  ensembl transcript: ENST00000422162
  gene symbol: RP11-465K1.2
  hgvsc: ENST00000422162.1:n.422+1392C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000436661
  ensembl transcript: ENST00000532427
  gene symbol: SLC44A3
  hgvsc: ENST00000532427.1:c.521-36G>C
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl transcript: ENST00000530397
  gene symbol: SLC44A3
  hgvsc: ENST00000530397.1:n.455-36G>C
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000434457
  ensembl transcript: ENST00000475883
  gene symbol: SLC44A3
  hgvsc: ENST00000475883.1:c.*484-36G>C
  variant of: http://identifiers.org/hgnc/28689
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143036
  ensembl protein: ENSP00000389143
  ensembl transcript: ENST00000446120
  gene symbol: SLC44A3
  hgvsc: ENST00000446120.2:c.653-36G>C
  variant of: http://identifiers.org/hgnc/28689
canonical: true
consequence: intron
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5488
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3659
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2167
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4351
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5417
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 59
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1171
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2587
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3392
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2470
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6987
bin: 6.75e1
variant carriers: 0

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

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

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

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

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

GenotypeQuality
all individuals: 1652
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8155
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.077549532028686e-5
allele num: 16454
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66708
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -8.88e-1

FS
type: SiteQuality
SIO_000300: 1.046e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.19e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -8.537e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.75e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.73e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

QD
type: SiteQuality
SIO_000300: 6.88e0

DP
type: SiteQuality
SIO_000300: 1.755672e6

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

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

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6986
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34199
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3391
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2587
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1171
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2470
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1652
bin: 9.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16452
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49907057624273e-5
allele num: 66708
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.755931e6

FS
type: SiteQuality
SIO_000300: 1.802e0

MQRankSum
type: SiteQuality
SIO_000300: 2.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.47e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.88e-1

QD
type: SiteQuality
SIO_000300: 1.483e1

MQ
type: SiteQuality
SIO_000300: 5.982e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.81e0

GenotypeQuality
all individuals: 34203
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2587
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1171
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1652
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 62
bin: 2.25e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 8156
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3391
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6984
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2470
bin: 7.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.078288353999514e-5
allele num: 16452
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499115521842113e-5
allele num: 66706
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 3.9e-2

MQ
type: SiteQuality
SIO_000300: 5.965e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.98e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.74e0

FS
type: SiteQuality
SIO_000300: 3.287e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.04e0

QD
type: SiteQuality
SIO_000300: 1.417e1

DP
type: SiteQuality
SIO_000300: 1.75603e6

MQRankSum
type: SiteQuality
SIO_000300: -8.799999999999999e-2

GenotypeQuality
all individuals: 2468
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34161
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3390
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10
bin: 2.75e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 6982
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2586
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1652
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8156
bin: 9.75e1
variant carriers: 1

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66690
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16422
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.121e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.1e0

VQSLOD
type: SiteQuality
SIO_000300: -2.772e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.057e1

DP
type: SiteQuality
SIO_000300: 1.755365e6

FS
type: SiteQuality
SIO_000300: 1.5459e1

MQRankSum
type: SiteQuality
SIO_000300: 3.83e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.823e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

GenotypeQuality
all individuals: 1651
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3390
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6975
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2586
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 17
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8156
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 163
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1171
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2465
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34043
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500195025353296e-5
allele num: 66658
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.95e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.051e0

MQ
type: SiteQuality
SIO_000300: 5.946e1

MQRankSum
type: SiteQuality
SIO_000300: 1.32e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.216e0

DP
type: SiteQuality
SIO_000300: 1.754371e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.24e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.7e-1

QD
type: SiteQuality
SIO_000300: 1.242e1

GenotypeQuality
all individuals: 171
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1171
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3388
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34030
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6966
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1650
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8157
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2464
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2585
bin: 8.25e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.113216774666829e-5
allele num: 16358
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66652
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.036e0

FS
type: SiteQuality
SIO_000300: 2.903e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.58e-1

QD
type: SiteQuality
SIO_000300: 1.386e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.16e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.03e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

DP
type: SiteQuality
SIO_000300: 1.754504e6

MQ
type: SiteQuality
SIO_000300: 5.962e1

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

GenotypeQuality
all individuals: 16
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1171
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2464
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 6968
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1650
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34038
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8159
bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.000570108320581e-5
allele num: 66654
num of homozygotes: 0

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16350
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: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 4.53e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.45e-1

FS
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SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.754175e6

MQ
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SIO_000300: 5.97e1

VQSLOD
type: SiteQuality
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MQRankSum
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SIO_000300: 1.65e0

InbreedingCoeff
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SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.159e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.18e-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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bin: 6.75e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16302
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5004651441947e-5
allele num: 66646
num of homozygotes: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.927e0

MQ
type: SiteQuality
SIO_000300: 5.808e1

DP
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SIO_000300: 1.753375e6

BaseQRankSum
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SIO_000300: -3.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
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SIO_000300: 2.6e-2

ReadPosRankSum
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SIO_000300: 1.28e0

VQSLOD
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SIO_000300: -1.814e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.324e0

QD
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SIO_000300: 1.648e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 5

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

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16248
num of homozygotes: 0

African
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allele count: 2
allele frequency: 1.921968095329617e-4
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.50355781067043e-5
allele num: 66614
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.75e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.6e-2

VQSLOD
type: SiteQuality
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MQRankSum
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QD
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DP
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InbreedingCoeff
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SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 5.076e0

BaseQRankSum
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SIO_000300: 4.63e0

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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variant carriers: 0

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16180
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 5.28e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.731e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

VQSLOD
type: SiteQuality
SIO_000300: 2.13e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.91e-1

DP
type: SiteQuality
SIO_000300: 1.751574e6

QD
type: SiteQuality
SIO_000300: 1.109e1

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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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.00318337437684e-5
allele num: 66596
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
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

MQRankSum
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SIO_000300: -5.8e-1

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.78e0

QD
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FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.899999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e-1

DP
type: SiteQuality
SIO_000300: 1.751419e6

MQ
type: SiteQuality
SIO_000300: 5.969e1

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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variant carriers: 0

Other
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allele frequency: 0.0e0
allele num: 906
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

African
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.50159168718842e-5
allele num: 66596
num of homozygotes: 0

East Asian
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num of homozygotes: 0

FS
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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MQ
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VQSLOD
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QD
type: SiteQuality
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BaseQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.502133028901039e-5
allele num: 66572
num of homozygotes: 0

African
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allele frequency: 0.0e0
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Other
type: Population
allele count: 0
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BaseQRankSum
type: SiteQuality
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VQSLOD
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InbreedingCoeff
type: SiteQuality
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FS
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ReadPosRankSum
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MQRankSum
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MQ
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ClippingRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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African
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allele frequency: 1.057692307692308e-3
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Latino
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South Asian
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European (Finnish)
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Other
type: Population
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ClippingRankSum
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DP
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ReadPosRankSum
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MQRankSum
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QD
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InbreedingCoeff
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FS
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BaseQRankSum
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VQSLOD
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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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variant carriers: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 3.61456670381638e-4
allele num: 66398
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East Asian
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African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15522
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.77e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -5.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.93e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.56e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -6.0e-2

DP
type: SiteQuality
SIO_000300: 1.739985e6

QD
type: SiteQuality
SIO_000300: 1.35e1

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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bin: 5.75e1
variant carriers: 0

South Asian
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allele frequency: 6.541933795629989e-5
allele num: 15286
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66332
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 3.016e0

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 7.94e-1

ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.98e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.3e-2

DP
type: SiteQuality
SIO_000300: 1.732351e6

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

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

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

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15268
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.01568154402895e-5
allele num: 66320
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 4.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.57e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.49e0

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.946e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.051e0

FS
type: SiteQuality
SIO_000300: 2.899e0

DP
type: SiteQuality
SIO_000300: 1.732915e6

QD
type: SiteQuality
SIO_000300: 1.135e1

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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variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.314924391847469e-4
allele num: 15210
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.049500769207565e-5
allele num: 66302
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.825e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.99e-1

MQ
type: SiteQuality
SIO_000300: 5.983e1

QD
type: SiteQuality
SIO_000300: 1.222e1

FS
type: SiteQuality
SIO_000300: 1.286e0

MQRankSum
type: SiteQuality
SIO_000300: 3.82e-1

DP
type: SiteQuality
SIO_000300: 1.731541e6

VQSLOD
type: SiteQuality
SIO_000300: 2.96e0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.342462075446369e-4
allele num: 14898
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66208
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.723462e6

VQSLOD
type: SiteQuality
SIO_000300: 3.52e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.31e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 6.523e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.09e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.47e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.57e0

MQ
type: SiteQuality
SIO_000300: 5.957e1

QD
type: SiteQuality
SIO_000300: 1.078e1

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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variant carriers: 0

African
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allele frequency: 0.0e0
allele num: 10366
num of homozygotes: 0

South Asian
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allele frequency: 6.857769853243725e-5
allele num: 14582
num of homozygotes: 0

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

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66122
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.446e0

InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
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MQRankSum
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QD
type: SiteQuality
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FS
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MQ
type: SiteQuality
SIO_000300: 5.982e1

VQSLOD
type: SiteQuality
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ReadPosRankSum
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SIO_000300: -1.063e0

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

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

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

Other
type: Population
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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African
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South Asian
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allele num: 14582
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.42e0

DP
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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MQRankSum
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VQSLOD
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QD
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MQ
type: SiteQuality
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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South Asian
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num of homozygotes: 0

East Asian
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 65740
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Latino
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Other
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European (Finnish)
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num of homozygotes: 0

QD
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
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DP
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MQ
type: SiteQuality
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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South Asian
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allele frequency: 7.582650894752806e-5
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European (Non-Finnish)
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European (Finnish)
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allele num: 6612
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Other
type: Population
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Latino
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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MQ
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DP
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FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.277e1

MQRankSum
type: SiteQuality
SIO_000300: 7.94e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 4

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10328
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.570801718621446e-5
allele num: 65634
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13146
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.16822429906542e-3
allele num: 856
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 8.120000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.68e0

MQRankSum
type: SiteQuality
SIO_000300: 5.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

QD
type: SiteQuality
SIO_000300: 1.401e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.688901e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.217e0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10324
num of homozygotes: 0

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 12746
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.526484506182262e-5
allele num: 65510
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.31e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.807e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

DP
type: SiteQuality
SIO_000300: 1.685552e6

QD
type: SiteQuality
SIO_000300: 2.729e1

MQ
type: SiteQuality
SIO_000300: 3.802e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.52e-1

FS
type: SiteQuality
SIO_000300: 9.370000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.405e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 12270
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.594462141631953e-5
allele num: 65296
num of homozygotes: 0

Other
type: Population
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.99e-1

QD
type: SiteQuality
SIO_000300: 3.242e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.04e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.13e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.73e-1

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.68265e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

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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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.605182365221663e-5
allele num: 65144
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.677542519958348e-5
allele num: 11524
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.72951936174353e-5
allele num: 10278
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11898
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
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ReadPosRankSum
type: SiteQuality
SIO_000300: -2.64e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.64e-1

FS
type: SiteQuality
SIO_000300: 5.829e0

VQSLOD
type: SiteQuality
SIO_000300: -1.172e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.58e-1

QD
type: SiteQuality
SIO_000300: 1.962e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

MQ
type: SiteQuality
SIO_000300: 5.973e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.215e0

DP
type: SiteQuality
SIO_000300: 1.68412e6

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999850007499625e-5
allele num: 66670
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16448
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6608
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: -7.75e-1

DP
type: SiteQuality
SIO_000300: 3.648651e6

ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.967e1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.471e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.620000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e-1

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.214771622934888e-4
allele num: 16464
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66684
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -8.3e-2

BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66688
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 1.92270717169775e-4
allele num: 10402
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South Asian
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
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DP
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MQ
type: SiteQuality
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BaseQRankSum
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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num of homozygotes: 0

European (Non-Finnish)
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allele num: 66686
num of homozygotes: 0

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

European (Finnish)
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allele frequency: 0.0e0
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East Asian
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Latino
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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VQSLOD
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FS
type: SiteQuality
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ClippingRankSum
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InbreedingCoeff
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DP
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
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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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variant carriers: 1

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66682
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South Asian
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Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

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

African
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allele frequency: 9.613535858488752e-5
allele num: 10402
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.565e0

DP
type: SiteQuality
SIO_000300: 3.652539e6

MQRankSum
type: SiteQuality
SIO_000300: -1.399e0

FS
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SIO_000300: 1.875e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.91e-1

InbreedingCoeff
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SIO_000300: 4.0e-4

VQSLOD
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SIO_000300: 8.39e-1

ReadPosRankSum
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SIO_000300: -3.6e-1

QD
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MQ
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66688
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 3.652988e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQ
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SIO_000300: 5.965e1

MQRankSum
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SIO_000300: 2.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.99e-1

FS
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SIO_000300: 2.497e0

BaseQRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.66e-1

QD
type: SiteQuality
SIO_000300: 1.786e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.21e-1

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499430216517723e-5
allele num: 66692
num of homozygotes: 0

African
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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 frequency: 0.0e0
allele num: 8654
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

MQ
type: SiteQuality
SIO_000300: 5.905e1

MQRankSum
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SIO_000300: 1.14e0

QD
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ClippingRankSum
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ReadPosRankSum
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SIO_000300: -7.25e-1

InbreedingCoeff
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DP
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FS
type: SiteQuality
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BaseQRankSum
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SIO_000300: -8.781000000000001e0

VQSLOD
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SIO_000300: -1.669e0

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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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66698
num of homozygotes: 0

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

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: 7.71e0

VQSLOD
type: SiteQuality
SIO_000300: 2.45e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.09e0

ClippingRankSum
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SIO_000300: -2.468e0

DP
type: SiteQuality
SIO_000300: 3.654276e6

QD
type: SiteQuality
SIO_000300: 1.413e1

MQRankSum
type: SiteQuality
SIO_000300: 7.63e-1

MQ
type: SiteQuality
SIO_000300: 5.984e1

FS
type: SiteQuality
SIO_000300: 6.671e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

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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variant carriers: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.998141152485459e-5
allele num: 66708
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: 0
allele frequency: 0.0e0
allele num: 11578
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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.32e0

FS
type: SiteQuality
SIO_000300: 5.822e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.592e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -4.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.5e-1

QD
type: SiteQuality
SIO_000300: 1.181e1

MQ
type: SiteQuality
SIO_000300: 5.937e1

DP
type: SiteQuality
SIO_000300: 3.654724e6

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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variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

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

East Asian
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allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.49902563333833e-5
allele num: 66710
num of homozygotes: 0

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

South Asian
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allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

Other
type: Population
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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num of homozygotes: 0

East Asian
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allele frequency: 1.744857869193437e-2
allele num: 8654
num of homozygotes: 3

Other
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num of homozygotes: 0

South Asian
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allele frequency: 2.42306760358614e-4
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European (Finnish)
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European (Non-Finnish)
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allele frequency: 1.498845888665727e-5
allele num: 66718
num of homozygotes: 0

Latino
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ReadPosRankSum
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DP
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QD
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VQSLOD
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FS
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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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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African
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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num of homozygotes: 0

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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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South Asian
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allele count: 2
allele frequency: 1.211387038158692e-4
allele num: 16510
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66730
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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DP
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FS
type: SiteQuality
SIO_000300: 7.9e-1

VQSLOD
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MQ
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ClippingRankSum
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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allele frequency: 4.864802403512827e-2
allele num: 8654
num of homozygotes: 13

European (Finnish)
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allele frequency: 0.0e0
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Other
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allele frequency: 2.202643171806168e-3
allele num: 908
num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 0.0e0
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DP
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InbreedingCoeff
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FS
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ClippingRankSum
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QD
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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VQSLOD
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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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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66728
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

African
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allele count: 0
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Other
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East Asian
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allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
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QD
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ReadPosRankSum
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MQRankSum
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VQSLOD
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BaseQRankSum
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FS
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ClippingRankSum
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MQ
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InbreedingCoeff
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.613535858488752e-5
allele num: 10402
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66726
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South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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InbreedingCoeff
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SIO_000300: 0.0e0

FS
type: SiteQuality
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ClippingRankSum
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SIO_000300: 4.84e-1

MQ
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QD
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
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SIO_000300: 3.644304e6

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

European (Non-Finnish)
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allele count: 5
allele frequency: 7.493330935467435e-5
allele num: 66726
num of homozygotes: 0

Latino
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allele count: 3
allele frequency: 2.591121091725686e-4
allele num: 11578
num of homozygotes: 0

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

VQSLOD
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QD
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BaseQRankSum
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DP
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FS
type: SiteQuality
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MQRankSum
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MQ
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SIO_000300: 5.961e1

InbreedingCoeff
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SIO_000300: -1.0e-4

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

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

African
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Other
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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QD
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BaseQRankSum
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MQRankSum
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DP
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ReadPosRankSum
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FS
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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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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Other
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South Asian
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African
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Latino
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European (Non-Finnish)
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European (Finnish)
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East Asian
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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DP
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VQSLOD
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QD
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ClippingRankSum
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ReadPosRankSum
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FS
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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Other
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Latino
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European (Finnish)
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African
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European (Non-Finnish)
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allele frequency: 1.498845888665727e-5
allele num: 66718
num of homozygotes: 0

ClippingRankSum
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MQRankSum
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InbreedingCoeff
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QD
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VQSLOD
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FS
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BaseQRankSum
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DP
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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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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2960
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498980693128672e-5
allele num: 66712
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.927e1

MQRankSum
type: SiteQuality
SIO_000300: -1.462e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.42e-1

ClippingRankSum
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SIO_000300: 1.11e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.05e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

DP
type: SiteQuality
SIO_000300: 3.643647e6

QD
type: SiteQuality
SIO_000300: 1.645e1

VQSLOD
type: SiteQuality
SIO_000300: -1.11e0

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

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.998231043684226e-5
allele num: 66706
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.29e-2

ClippingRankSum
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SIO_000300: -3.66e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.62e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.56e-1

QD
type: SiteQuality
SIO_000300: 1.439e1

DP
type: SiteQuality
SIO_000300: 3.643047e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.29e0

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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variant carriers: 19

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 10
allele frequency: 8.637070305752289e-4
allele num: 11578
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.049506731836037e-4
allele num: 66698
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.023888720895071e-4
allele num: 6614
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.533e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.12e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.69e0

MQ
type: SiteQuality
SIO_000300: 5.979e1

DP
type: SiteQuality
SIO_000300: 3.643439e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.18e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.14e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.649e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 12

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.799100449775112e-4
allele num: 66700
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.513e1

MQRankSum
type: SiteQuality
SIO_000300: 7.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.13e-2

MQ
type: SiteQuality
SIO_000300: 5.974e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.53e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.75e0

DP
type: SiteQuality
SIO_000300: 3.64254e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.87e0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499745043342632e-5
allele num: 66678
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.638501e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.7e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.42e0

MQRankSum
type: SiteQuality
SIO_000300: 6.15e-1

MQ
type: SiteQuality
SIO_000300: 5.947e1

QD
type: SiteQuality
SIO_000300: 1.1e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.43e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.159e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.0e0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.157407407407407e-4
allele num: 8640
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66656
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.923446816695518e-4
allele num: 10398
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 4.1e0

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 3.63393e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.65e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

MQ
type: SiteQuality
SIO_000300: 5.972e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.1e-2

MQRankSum
type: SiteQuality
SIO_000300: 5.6e-2

QD
type: SiteQuality
SIO_000300: 1.479e1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 12

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 1.650462129396231e-4
allele num: 66648
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.059871530723549e-5
allele num: 16502
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.191e0

VQSLOD
type: SiteQuality
SIO_000300: 2.88e-1

DP
type: SiteQuality
SIO_000300: 3.632978e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.05e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.62e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

FS
type: SiteQuality
SIO_000300: 1.655e0

QD
type: SiteQuality
SIO_000300: 1.947e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.25e-1

GenotypeQuality
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bin: 7.5e0
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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bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66654
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: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.33e-1

MQ
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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SIO_000300: -2.73e-1

QD
type: SiteQuality
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FS
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.059871530723549e-5
allele num: 16502
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 1.650313559576319e-4
allele num: 66654
num of homozygotes: 0

Other
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8640
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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.964e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.67e0

QD
type: SiteQuality
SIO_000300: 1.983e1

VQSLOD
type: SiteQuality
SIO_000300: 1.87e0

DP
type: SiteQuality
SIO_000300: 3.630821e6

FS
type: SiteQuality
SIO_000300: 1.656e0

MQRankSum
type: SiteQuality
SIO_000300: 1.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.57e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.73e-1

GenotypeQuality
all individuals: 18
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1669
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3198
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 356
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1566
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3310
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 2.75e1
variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.06060606060606e-5
allele num: 16500
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66650
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.815e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 4.2e0

DP
type: SiteQuality
SIO_000300: 3.629281e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -7.272999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.22e0

MQRankSum
type: SiteQuality
SIO_000300: -6.66e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.416e1

GenotypeQuality
all individuals: 153
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 538
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 37109
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 457
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3414
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3116
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5171
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1666
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3190
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 4.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.504504504504505e-5
allele num: 66600
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.314e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 9.429999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.182e0

DP
type: SiteQuality
SIO_000300: 3.618326e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.76e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.77e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.72e-1

GenotypeQuality
all individuals: 32
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1661
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 677
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 425
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 423
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2906
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1517
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3409
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 492
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4346
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 6
allele frequency: 3.63901018922853e-4
allele num: 16488
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.641548565502938e-5
allele num: 11572
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66558
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 3.83e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.69e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.27e0

QD
type: SiteQuality
SIO_000300: 1.283e1

DP
type: SiteQuality
SIO_000300: 3.614854e6

MQ
type: SiteQuality
SIO_000300: 5.967e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.54e-1

GenotypeQuality
all individuals: 277
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1622
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 476
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 670
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 591
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 458
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 935
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 531
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 707
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 679
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10348
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.733102253032929e-4
allele num: 11540
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65488
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12910
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.803e0

FS
type: SiteQuality
SIO_000300: 5.570000000000001e-1

DP
type: SiteQuality
SIO_000300: 4.034326e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

MQRankSum
type: SiteQuality
SIO_000300: 3.16e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.0e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.48e-1

QD
type: SiteQuality
SIO_000300: 9.94e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 179
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 458
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 549
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 670
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51251
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 250
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 531
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 707
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 679
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 476
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.665511265164645e-5
allele num: 11540
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10348
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12910
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65488
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

DP
type: SiteQuality
SIO_000300: 4.034326e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.803e0

VQSLOD
type: SiteQuality
SIO_000300: 6.0e-1

FS
type: SiteQuality
SIO_000300: 5.570000000000001e-1

QD
type: SiteQuality
SIO_000300: 9.94e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.48e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.16e-1

GenotypeQuality
all individuals: 179
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1008
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51251
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 231
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 549
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 531
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 670
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 707
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 591
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 7.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10348
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.52699731248473e-5
allele num: 65488
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12910
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 9.48e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.16e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.0e-1

FS
type: SiteQuality
SIO_000300: 5.570000000000001e-1

QD
type: SiteQuality
SIO_000300: 9.94e0

DP
type: SiteQuality
SIO_000300: 4.034326e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.803e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

GenotypeQuality
all individuals: 551
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1009
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 51251
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 43
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 476
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 535
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1637
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 571
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 458
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 707
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.526764176005374e-5
allele num: 65498
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10348
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12908
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.999999999999999e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.059e0

QD
type: SiteQuality
SIO_000300: 1.21e1

FS
type: SiteQuality
SIO_000300: 1.143e0

VQSLOD
type: SiteQuality
SIO_000300: 3.43e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.92e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

MQRankSum
type: SiteQuality
SIO_000300: 1.55e-1

DP
type: SiteQuality
SIO_000300: 4.033313e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.35e-1

GenotypeQuality
all individuals: 535
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 571
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1637
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 681
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 672
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 707
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51251
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 277
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1009
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10348
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12908
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65498
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: 1.156871818602499e-4
allele num: 8644
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.21e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.999999999999999e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.059e0

MQRankSum
type: SiteQuality
SIO_000300: 1.55e-1

DP
type: SiteQuality
SIO_000300: 4.033313e6

FS
type: SiteQuality
SIO_000300: 1.143e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.92e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.43e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.35e-1

GenotypeQuality
all individuals: 458
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 681
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 672
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 707
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 535
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 476
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 933
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51251
bin: 9.75e1
variant carriers: 114

GenotypeQuality
all individuals: 551
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 70
allele frequency: 1.068734923203762e-3
allele num: 65498
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 40
allele frequency: 6.047777441790143e-3
allele num: 6614
num of homozygotes: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12908
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.732801940738174e-4
allele num: 11542
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 3.51288056206089e-3
allele num: 854
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10348
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -4.92e-1

FS
type: SiteQuality
SIO_000300: 1.143e0

DP
type: SiteQuality
SIO_000300: 4.033313e6

VQSLOD
type: SiteQuality
SIO_000300: 3.43e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.059e0

QD
type: SiteQuality
SIO_000300: 1.21e1

MQRankSum
type: SiteQuality
SIO_000300: 1.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.999999999999999e-3

MQ
type: SiteQuality
SIO_000300: 5.965e1

GenotypeQuality
all individuals: 551
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1010
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 879
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 477
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 480
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2051
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 708
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 814
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 239
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 665
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10348
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 23
allele frequency: 3.511557604812361e-4
allele num: 65498
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12860
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

MQ
type: SiteQuality
SIO_000300: 5.967e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.291e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.0e-1

QD
type: SiteQuality
SIO_000300: 1.357e1

MQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.46e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.62e-1

DP
type: SiteQuality
SIO_000300: 4.011834e6

GenotypeQuality
all individuals: 51253
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 114
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 665
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 814
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 480
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 477
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 551
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 708
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2051
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.157139551029854e-4
allele num: 8642
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10348
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12860
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65498
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.62e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.46e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.291e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 4.011834e6

QD
type: SiteQuality
SIO_000300: 1.357e1

MQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

GenotypeQuality
all individuals: 895
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51242
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 1011
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 508
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 477
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 708
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 553
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 460
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 882
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 678
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13040
num of homozygotes: 0

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

African
type: Population
allele count: 4
allele frequency: 3.866228494104001e-4
allele num: 10346
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.101281269066504e-5
allele num: 65560
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.48e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.02e0

MQ
type: SiteQuality
SIO_000300: 5.951e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.65e-1

FS
type: SiteQuality
SIO_000300: 5.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.86e-1

DP
type: SiteQuality
SIO_000300: 4.009353e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e0

QD
type: SiteQuality
SIO_000300: 1.522e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.06e-2