Summary

Summary {data-width=650}

Manhattan plot

manhattan_plot

manhattan_plot

QQ plot

qq_plot

qq_plot

AF plot

af_plot

af_plot

P-Z plot

pz_plot

pz_plot

beta_std plot

beta_std_plot

beta_std_plot

Metadata

{
    "fileformat": "VCFv4.2",
    "FILTER": "<ID=PASS,Description=\"All filters passed\">",
    "INFO": "<ID=AF,Number=A,Type=Float,Description=\"Allele Frequency\">",
    "FORMAT": "<ID=ES,Number=A,Type=Float,Description=\"Effect size estimate relative to the alternative allele\">",
    "FORMAT.1": "<ID=SE,Number=A,Type=Float,Description=\"Standard error of effect size estimate\">",
    "FORMAT.2": "<ID=LP,Number=A,Type=Float,Description=\"-log10 p-value for effect estimate\">",
    "FORMAT.3": "<ID=AF,Number=A,Type=Float,Description=\"Alternate allele frequency in the association study\">",
    "FORMAT.4": "<ID=SS,Number=A,Type=Float,Description=\"Sample size used to estimate genetic effect\">",
    "FORMAT.5": "<ID=EZ,Number=A,Type=Float,Description=\"Z-score provided if it was used to derive the EFFECT and SE fields\">",
    "FORMAT.6": "<ID=SI,Number=A,Type=Float,Description=\"Accuracy score of summary data imputation\">",
    "FORMAT.7": "<ID=NC,Number=A,Type=Float,Description=\"Number of cases used to estimate genetic effect\">",
    "FORMAT.8": "<ID=ID,Number=1,Type=String,Description=\"Study variant identifier\">",
    "META": "<ID=TotalVariants,Number=1,Type=Integer,Description=\"Total number of variants in input\">",
    "META.1": "<ID=VariantsNotRead,Number=1,Type=Integer,Description=\"Number of variants that could not be read\">",
    "META.2": "<ID=HarmonisedVariants,Number=1,Type=Integer,Description=\"Total number of harmonised variants\">",
    "META.3": "<ID=VariantsNotHarmonised,Number=1,Type=Integer,Description=\"Total number of variants that could not be harmonised\">",
    "META.4": "<ID=SwitchedAlleles,Number=1,Type=Integer,Description=\"Total number of variants strand switched\">",
    "META.5": "<ID=TotalControls,Number=1,Type=Integer,Description=\"Total number of controls in the association study\">",
    "META.6": "<ID=TotalCases,Number=1,Type=Integer,Description=\"Total number of cases in the association study\">",
    "META.7": "<ID=StudyType,Number=1,Type=String,Description=\"Type of GWAS study [Continuous or CaseControl]\">",
    "SAMPLE": "<ID=ieu-a-1094,TotalVariants=8973300,VariantsNotRead=0,HarmonisedVariants=8973300,VariantsNotHarmonised=0,SwitchedAlleles=0,StudyType=Continuous>",
    "contig": "<ID=1,length=249250621,assembly=HG19/GRCh37>",
    "contig.1": "<ID=2,length=243199373,assembly=HG19/GRCh37>",
    "contig.2": "<ID=3,length=198022430,assembly=HG19/GRCh37>",
    "contig.3": "<ID=4,length=191154276,assembly=HG19/GRCh37>",
    "contig.4": "<ID=5,length=180915260,assembly=HG19/GRCh37>",
    "contig.5": "<ID=6,length=171115067,assembly=HG19/GRCh37>",
    "contig.6": "<ID=7,length=159138663,assembly=HG19/GRCh37>",
    "contig.7": "<ID=8,length=146364022,assembly=HG19/GRCh37>",
    "contig.8": "<ID=9,length=141213431,assembly=HG19/GRCh37>",
    "contig.9": "<ID=10,length=135534747,assembly=HG19/GRCh37>",
    "contig.10": "<ID=11,length=135006516,assembly=HG19/GRCh37>",
    "contig.11": "<ID=12,length=133851895,assembly=HG19/GRCh37>",
    "contig.12": "<ID=13,length=115169878,assembly=HG19/GRCh37>",
    "contig.13": "<ID=14,length=107349540,assembly=HG19/GRCh37>",
    "contig.14": "<ID=15,length=102531392,assembly=HG19/GRCh37>",
    "contig.15": "<ID=16,length=90354753,assembly=HG19/GRCh37>",
    "contig.16": "<ID=17,length=81195210,assembly=HG19/GRCh37>",
    "contig.17": "<ID=18,length=78077248,assembly=HG19/GRCh37>",
    "contig.18": "<ID=19,length=59128983,assembly=HG19/GRCh37>",
    "contig.19": "<ID=20,length=63025520,assembly=HG19/GRCh37>",
    "contig.20": "<ID=21,length=48129895,assembly=HG19/GRCh37>",
    "contig.21": "<ID=22,length=51304566,assembly=HG19/GRCh37>",
    "contig.22": "<ID=X,length=155270560,assembly=HG19/GRCh37>",
    "contig.23": "<ID=Y,length=59373566,assembly=HG19/GRCh37>",
    "contig.24": "<ID=MT,length=16569,assembly=HG19/GRCh37>",
    "contig.25": "<ID=GL000207.1,length=4262,assembly=HG19/GRCh37>",
    "contig.26": "<ID=GL000226.1,length=15008,assembly=HG19/GRCh37>",
    "contig.27": "<ID=GL000229.1,length=19913,assembly=HG19/GRCh37>",
    "contig.28": "<ID=GL000231.1,length=27386,assembly=HG19/GRCh37>",
    "contig.29": "<ID=GL000210.1,length=27682,assembly=HG19/GRCh37>",
    "contig.30": "<ID=GL000239.1,length=33824,assembly=HG19/GRCh37>",
    "contig.31": "<ID=GL000235.1,length=34474,assembly=HG19/GRCh37>",
    "contig.32": "<ID=GL000201.1,length=36148,assembly=HG19/GRCh37>",
    "contig.33": "<ID=GL000247.1,length=36422,assembly=HG19/GRCh37>",
    "contig.34": "<ID=GL000245.1,length=36651,assembly=HG19/GRCh37>",
    "contig.35": "<ID=GL000197.1,length=37175,assembly=HG19/GRCh37>",
    "contig.36": "<ID=GL000203.1,length=37498,assembly=HG19/GRCh37>",
    "contig.37": "<ID=GL000246.1,length=38154,assembly=HG19/GRCh37>",
    "contig.38": "<ID=GL000249.1,length=38502,assembly=HG19/GRCh37>",
    "contig.39": "<ID=GL000196.1,length=38914,assembly=HG19/GRCh37>",
    "contig.40": "<ID=GL000248.1,length=39786,assembly=HG19/GRCh37>",
    "contig.41": "<ID=GL000244.1,length=39929,assembly=HG19/GRCh37>",
    "contig.42": "<ID=GL000238.1,length=39939,assembly=HG19/GRCh37>",
    "contig.43": "<ID=GL000202.1,length=40103,assembly=HG19/GRCh37>",
    "contig.44": "<ID=GL000234.1,length=40531,assembly=HG19/GRCh37>",
    "contig.45": "<ID=GL000232.1,length=40652,assembly=HG19/GRCh37>",
    "contig.46": "<ID=GL000206.1,length=41001,assembly=HG19/GRCh37>",
    "contig.47": "<ID=GL000240.1,length=41933,assembly=HG19/GRCh37>",
    "contig.48": "<ID=GL000236.1,length=41934,assembly=HG19/GRCh37>",
    "contig.49": "<ID=GL000241.1,length=42152,assembly=HG19/GRCh37>",
    "contig.50": "<ID=GL000243.1,length=43341,assembly=HG19/GRCh37>",
    "contig.51": "<ID=GL000242.1,length=43523,assembly=HG19/GRCh37>",
    "contig.52": "<ID=GL000230.1,length=43691,assembly=HG19/GRCh37>",
    "contig.53": "<ID=GL000237.1,length=45867,assembly=HG19/GRCh37>",
    "contig.54": "<ID=GL000233.1,length=45941,assembly=HG19/GRCh37>",
    "contig.55": "<ID=GL000204.1,length=81310,assembly=HG19/GRCh37>",
    "contig.56": "<ID=GL000198.1,length=90085,assembly=HG19/GRCh37>",
    "contig.57": "<ID=GL000208.1,length=92689,assembly=HG19/GRCh37>",
    "contig.58": "<ID=GL000191.1,length=106433,assembly=HG19/GRCh37>",
    "contig.59": "<ID=GL000227.1,length=128374,assembly=HG19/GRCh37>",
    "contig.60": "<ID=GL000228.1,length=129120,assembly=HG19/GRCh37>",
    "contig.61": "<ID=GL000214.1,length=137718,assembly=HG19/GRCh37>",
    "contig.62": "<ID=GL000221.1,length=155397,assembly=HG19/GRCh37>",
    "contig.63": "<ID=GL000209.1,length=159169,assembly=HG19/GRCh37>",
    "contig.64": "<ID=GL000218.1,length=161147,assembly=HG19/GRCh37>",
    "contig.65": "<ID=GL000220.1,length=161802,assembly=HG19/GRCh37>",
    "contig.66": "<ID=GL000213.1,length=164239,assembly=HG19/GRCh37>",
    "contig.67": "<ID=GL000211.1,length=166566,assembly=HG19/GRCh37>",
    "contig.68": "<ID=GL000199.1,length=169874,assembly=HG19/GRCh37>",
    "contig.69": "<ID=GL000217.1,length=172149,assembly=HG19/GRCh37>",
    "contig.70": "<ID=GL000216.1,length=172294,assembly=HG19/GRCh37>",
    "contig.71": "<ID=GL000215.1,length=172545,assembly=HG19/GRCh37>",
    "contig.72": "<ID=GL000205.1,length=174588,assembly=HG19/GRCh37>",
    "contig.73": "<ID=GL000219.1,length=179198,assembly=HG19/GRCh37>",
    "contig.74": "<ID=GL000224.1,length=179693,assembly=HG19/GRCh37>",
    "contig.75": "<ID=GL000223.1,length=180455,assembly=HG19/GRCh37>",
    "contig.76": "<ID=GL000195.1,length=182896,assembly=HG19/GRCh37>",
    "contig.77": "<ID=GL000212.1,length=186858,assembly=HG19/GRCh37>",
    "contig.78": "<ID=GL000222.1,length=186861,assembly=HG19/GRCh37>",
    "contig.79": "<ID=GL000200.1,length=187035,assembly=HG19/GRCh37>",
    "contig.80": "<ID=GL000193.1,length=189789,assembly=HG19/GRCh37>",
    "contig.81": "<ID=GL000194.1,length=191469,assembly=HG19/GRCh37>",
    "contig.82": "<ID=GL000225.1,length=211173,assembly=HG19/GRCh37>",
    "contig.83": "<ID=GL000192.1,length=547496,assembly=HG19/GRCh37>",
    "gwas_harmonisation_command": "--json /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/ieu-a-import/processed/ieu-a-1094/ieu-a-1094_data.json --ref /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/QC/genomes/b37/human_g1k_v37.fasta; 1.1.1",
    "file_date": "2020-02-04T08:33:33.735382",
    "bcftools_annotateVersion": "1.9-74-g6af271c+htslib-1.9-64-g226b4a8",
    "bcftools_annotateCommand": "annotate -a /mnt/storage/home/gh13047/mr-eve/vcf-reference-datasets/dbsnp/dbsnp.v153.b37.vcf.gz -c ID -o /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/ieu-a-import/processed/ieu-a-1094/ieu-a-1094.vcf.gz -O z /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/ieu-a-import/processed/ieu-a-1094/ieu-a-1094_data.vcf.gz; Date=Tue Feb  4 16:53:42 2020",
    "bcftools_viewVersion": "1.9-74-g6af271c+htslib-1.9-64-g226b4a8",
    "bcftools_viewCommand": "view -h /mnt/storage/private/mrcieu/research/scratch/IGD/data/public/ieu-a-1094/ieu-a-1094.vcf.gz; Date=Sat May  9 19:29:15 2020"
}
 

LDSC

*********************************************************************
* LD Score Regression (LDSC)
* Version 1.0.1
* (C) 2014-2019 Brendan Bulik-Sullivan and Hilary Finucane
* Broad Institute of MIT and Harvard / MIT Department of Mathematics
* GNU General Public License v3
*********************************************************************
Call: 
./ldsc.py \
--h2 /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/ieu-a-import/processed/ieu-a-1094/ieu-a-1094.vcf.gz \
--ref-ld-chr /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/reference/eur_w_ld_chr/ \
--out /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/ieu-a-import/processed/ieu-a-1094/ldsc.txt \
--w-ld-chr /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/reference/eur_w_ld_chr/ 

Beginning analysis at Wed Feb  5 09:12:16 2020
Reading summary statistics from /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/ieu-a-import/processed/ieu-a-1094/ieu-a-1094.vcf.gz ...
Read summary statistics for 8973300 SNPs.
Reading reference panel LD Score from /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/reference/eur_w_ld_chr/[1-22] ...
Read reference panel LD Scores for 1290028 SNPs.
Removing partitioned LD Scores with zero variance.
Reading regression weight LD Score from /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/reference/eur_w_ld_chr/[1-22] ...
Read regression weight LD Scores for 1290028 SNPs.
After merging with reference panel LD, 1258582 SNPs remain.
After merging with regression SNP LD, 1258582 SNPs remain.
Using two-step estimator with cutoff at 30.
Total Observed scale h2: 0.0286 (0.0068)
Lambda GC: 1.0551
Mean Chi^2: 1.0583
Intercept: 1.0157 (0.0063)
Ratio: 0.2701 (0.1088)
Analysis finished at Wed Feb  5 09:13:43 2020
Total time elapsed: 1.0m:26.87s

QC metrics

Metrics

Metrics

{
    "af_correlation": 0.9438,
    "inflation_factor": 1.0475,
    "mean_EFFECT": -3.3561e-06,
    "n": 75244,
    "n_snps": 8973300,
    "n_clumped_hits": 0,
    "n_p_sig": 0,
    "n_mono": 0,
    "n_ns": 615334,
    "n_mac": 0,
    "is_snpid_unique": true,
    "n_miss_EFFECT": 0,
    "n_miss_SE": 0,
    "n_miss_PVAL": 0,
    "n_miss_AF": 0,
    "n_miss_AF_reference": 166203,
    "n_est": 74428.2877,
    "ratio_se_n": 0.9946,
    "mean_diff": 0,
    "ratio_diff": 1.114,
    "sd_y_est1": 1.4781,
    "sd_y_est2": 1.4701,
    "r2_sum1": 0,
    "r2_sum2": 0,
    "r2_sum3": 0,
    "r2_sum4": 0,
    "ldsc_nsnp_merge_refpanel_ld": 1258582,
    "ldsc_nsnp_merge_regression_ld": 1258582,
    "ldsc_observed_scale_h2_beta": 0.0286,
    "ldsc_observed_scale_h2_se": 0.0068,
    "ldsc_intercept_beta": 1.0157,
    "ldsc_intercept_se": 0.0063,
    "ldsc_lambda_gc": 1.0551,
    "ldsc_mean_chisq": 1.0583,
    "ldsc_ratio": 0.2693
}
 

Flags

name value
af_correlation FALSE
inflation_factor FALSE
n FALSE
is_snpid_non_unique FALSE
mean_EFFECT_nonfinite FALSE
mean_EFFECT_05 FALSE
mean_EFFECT_01 FALSE
mean_chisq FALSE
n_p_sig FALSE
miss_EFFECT FALSE
miss_SE FALSE
miss_PVAL FALSE
ldsc_ratio FALSE
ldsc_intercept_beta FALSE
n_clumped_hits FALSE
r2_sum1 FALSE
r2_sum2 FALSE
r2_sum3 FALSE
r2_sum4 FALSE

Definitions

General metrics

  • af_correlation: Correlation coefficient between AF and AF_reference.
  • inflation_factor (lambda): Genomic inflation factor.
  • mean_EFFECT: Mean of EFFECT size.
  • n: Maximum value of reported sample size across all SNPs, \(n\).
  • n_clumped_hits: Number of clumped hits.
  • n_snps: Number of SNPs
  • n_p_sig: Number of SNPs with pvalue below 5e-8.
  • n_mono: Number of monomorphic (MAF == 1 or MAF == 0) SNPs.
  • n_ns: Number of SNPs with nonsense values:
    • alleles other than A, C, G or T.
    • P-values < 0 or > 1.
    • negative or infinite standard errors (<= 0 or = Infinity).
    • infinite beta estimates or allele frequencies < 0 or > 1.
  • n_mac: Number of cases where MAC (\(2 \times N \times MAF\)) is less than 6.
  • is_snpid_unique: true if the combination of ID REF ALT is unique and therefore no duplication in snpid.
  • n_miss_<*>: Number of NA observations for <*> column.

se_n metrics

  • n_est: Estimated sample size value, \(\widehat{n}\).
  • ratio_se_n: \(\texttt{ratio_se_n} = \frac{\sqrt{\widehat{n}}}{\sqrt{n}}\). We expect ratio_se_n to be 1. When it is not 1, it implies that the trait did not have a variance of 1, the reported sample size is wrong, or that the SNP-level effective sample sizes differ markedly from the reported sample size.
  • mean_diff: \(\texttt{mean_diff} = \sum_{j} \frac{\widehat{\beta_j^{std}} - \beta_j}{\texttt{n_snps}}\), mean difference between the standardised beta, predicted from P-values, and the observed beta. The difference should be very close to zero if trait has a variance of 1.
    • \(\widehat{\beta_j^{std}} = \sqrt{\frac{{z}_j^2 / ({z}_j^2 + n -2)}{2 \times {MAF}_j \times (1 - {MAF}_j)}} \times sign({z}_j)\),
    • \({z}_j = \frac{\beta_j}{{se}_j}\),
    • and \(\beta_j\) is the reported effect size.
  • ratio_diff: \(\texttt{ratio_diff} = |\frac{\texttt{mean_diff}}{\texttt{mean_diff2}}|\), absolute ratio between the mean of diff and the mean of diff2 (expected difference between the standardised beta predicted from P-values, and the standardised beta derived from the observed beta divided by the predicted SD; NOT reported). The ratio should be close to 1. If different from 1, then implies that the betas are not in a standard deviation scale.
    • \(\texttt{mean_diff2} = \sum_{j} \frac{\widehat{\beta_j^{std}} - \beta^{\prime}_j}{\texttt{n_snps}}\)
    • \(\beta^{\prime}_j = \frac{\beta_j}{\widehat{\texttt{sd2}}_{y}}\)
  • sd_y_est1: The standard deviation for the trait inferred from the reported sample size, median standard errors for the SNP-trait assocations and SNP variances.
    • \(\widehat{\texttt{sd1}}_{y} = \frac{\sqrt{n} \times median({se}_j)}{C}\),
    • \(C = median(\frac{1}{\sqrt{2 \times {MAF}_j \times (1 - {MAF}_j)}})\),
    • and \({se}_j\) is the reported standard error.
  • sd_y_est2: The standard deviation for the trait inferred from the reported sample size, Z statistics for the SNP-trait effects (beta/se) and allele frequency.
    • \(\widehat{\texttt{sd2}}_{y} = median(\widehat{sd_j})\),
    • \(\widehat{sd_j} = \frac{\beta_j}{\widehat{\beta_j^{std}}}\),

r2 metrics

Sum of variance explained, calculated from the clumped top hits sample.

  • r2_sum<*>: r2 statistics under various assumptions
    • 1: \(r^2 = \sum_j{\frac{2 \times \beta_j^2 \times {MAF}_j \times (1 - {MAF}_j)}{\texttt{var1}}}\), \(\texttt{var1} = 1\).
    • 2: \(r^2 = \sum_j{\frac{2 \times \beta_j^2 \times {MAF}_j \times (1 - {MAF}_j)}{\texttt{var2}}}\), \(\texttt{var2} = {\widehat{\texttt{sd1}}_{y}}^2\),
    • 3: \(r^2 = \sum_j{\frac{2 \times \beta_j^2 \times {MAF}_j \times (1 - {MAF}_j)}{\texttt{var3}}}\), \(\texttt{var3} = {\widehat{\texttt{sd2}}_{y}}^2\),
    • 4: \(r^2 = \sum_j{\frac{F_j}{F_j + n - 2}}\), \(F = \frac{\beta_j^2}{{se}_j^2}\).

LDSC metrics

Metrics from LD regression

  • ldsc_nsnp_merge_refpanel_ld: Number of remaining SNPs after merging with reference panel LD.
  • ldsc_nsnp_merge_regression_ld: Number of remaining SNPs after merging with regression SNP LD.
  • ldsc_observed_scale_h2_{beta,se} Coefficient value and SE for total observed scale h2.
  • ldsc_intercept_{beta,se}: Coefficient value and SE for intercept. Intercept is expected to be 1.
  • ldsc_lambda_gc: Lambda GC statistics.
  • ldsc_mean_chisq: Mean \(\chi^2\) statistics.
  • ldsc_ratio: \(\frac{\texttt{ldsc_intercept_beta} - 1}{\texttt{ldsc_mean_chisq} - 1}\), the proportion of the inflation in the mean \(\chi^2\) that the LD Score regression intercepts ascribes to causes other than polygenic heritability. The value of ratio should be close to zero, though in practice values of 0.1-0.2 are not uncommon, probably due to sample/reference LD Score mismatch or model misspecification (e.g., low LD variants have slightly higher \(h^2\) per SNP).

Flags

When a metric needs attention, the flag should return TRUE.

  • af_correlation: abs(af_correlation) < 0.7.
  • inflation_factor: inflation_factor > 1.2.
  • n: n (max reported sample size) < 10000.
  • is_snpid_non_unique: NOT is_snpid_unique.
  • mean_EFFECT_nonfinite: mean(EFFECT) is NA, NaN, or Inf.
  • mean_EFFECT_05: abs(mean(EFFECT)) > 0.5.
  • mean_EFFECT_01: abs(mean(EFFECT)) > 0.1.
  • mean_chisq: ldsc_mean_chisq > 1.3 or ldsc_mean_chisq < 0.7.
  • n_p_sig: n_p_sig > 1000.
  • miss_<*>: n_miss_<*> / n_snps > 0.01.
  • ldsc_ratio: ldsc_ratio > 0.5
  • ldsc_intercept_beta: ldsc_intercept_beta > 1.5
  • n_clumped_hits: n_clumped_hits > 1000
  • r2_sum<*>: r2_sum<*> > 0.5

Plots

  • Manhattan plot
    • Red line: \(-log_{10}^{5 \times 10^{-8}}\)
    • Blue line: \(-log_{10}^{5 \times 10^{-5}}\)
  • QQ plot
  • AF plot
  • P-Z plot
  • beta_std plot: Scatter plot between \(\widehat{\beta_j^{std}}\) and \(\beta_j\)

Diagnostics

Details

Summary stats

skim_type skim_variable n_missing complete_rate character.min character.max character.empty character.n_unique character.whitespace numeric.mean numeric.sd numeric.p0 numeric.p25 numeric.p50 numeric.p75 numeric.p100 numeric.hist
character ID 0 1.0000000 3 58 0 8973299 0 NA NA NA NA NA NA NA NA
character REF 0 1.0000000 1 45 0 34759 0 NA NA NA NA NA NA NA NA
character ALT 0 1.0000000 1 45 0 18428 0 NA NA NA NA NA NA NA NA
numeric CHROM 0 1.0000000 NA NA NA NA NA 8.670575e+00 5.777711e+00 1.0000e+00 4.000000e+00 8.000000e+00 1.300000e+01 2.200000e+01 ▇▅▅▂▂
numeric POS 0 1.0000000 NA NA NA NA NA 7.865655e+07 5.656167e+07 3.0200e+02 3.199260e+07 6.913289e+07 1.145153e+08 2.492393e+08 ▇▆▅▂▁
numeric EFFECT 0 1.0000000 NA NA NA NA NA -3.400000e-06 1.777910e-02 -2.1139e-01 -8.568900e-03 1.650000e-05 8.504500e-03 1.993770e-01 ▁▁▇▁▁
numeric SE 0 1.0000000 NA NA NA NA NA 1.518130e-02 8.734300e-03 7.4385e-03 8.367300e-03 1.134430e-02 1.967550e-02 6.015640e-02 ▇▂▁▁▁
numeric PVAL 0 1.0000000 NA NA NA NA NA 4.925132e-01 2.908583e-01 2.0000e-07 2.399999e-01 4.899999e-01 7.400005e-01 1.000000e+00 ▇▇▇▇▇
numeric PVAL_ztest 0 1.0000000 NA NA NA NA NA 4.925128e-01 2.908325e-01 2.0000e-07 2.387371e-01 4.900243e-01 7.445287e-01 1.000000e+00 ▇▇▇▇▇
numeric AF 0 1.0000000 NA NA NA NA NA 2.586996e-01 2.637445e-01 1.0001e-02 4.224200e-02 1.529370e-01 4.112290e-01 9.899990e-01 ▇▂▂▁▁
numeric AF_reference 166203 0.9814781 NA NA NA NA NA 2.549491e-01 2.527002e-01 0.0000e+00 4.612620e-02 1.661340e-01 4.007590e-01 1.000000e+00 ▇▃▂▁▁
numeric N 0 1.0000000 NA NA NA NA NA 7.524400e+04 0.000000e+00 7.5244e+04 7.524400e+04 7.524400e+04 7.524400e+04 7.524400e+04 ▁▁▇▁▁

Head and tail

CHROM POS ID REF ALT EFFECT SE PVAL PVAL_ztest AF AF_reference N
1 10177 rs367896724 A AC 0.0119994 0.0109569 0.2700001 0.2734529 0.402314 0.4253190 75244
1 10352 rs555500075 T TA 0.0058875 0.0114187 0.6100002 0.6061315 0.390095 0.4375000 75244
1 11008 rs575272151 C G -0.0134932 0.0189901 0.4799997 0.4773702 0.086367 0.0880591 75244
1 11012 rs544419019 C G -0.0134932 0.0189901 0.4799997 0.4773702 0.086367 0.0880591 75244
1 13110 rs540538026 G A -0.0272931 0.0243672 0.2599998 0.2626817 0.059597 0.0267572 75244
1 13116 rs62635286 T G 0.0219601 0.0149497 0.1400000 0.1418511 0.188535 0.0970447 75244
1 13273 rs531730856 G C -0.0268663 0.0172490 0.1199999 0.1193383 0.133959 0.0950479 75244
1 14464 rs546169444 A T -0.0025882 0.0155657 0.8700001 0.8679389 0.155098 0.0958466 75244
1 14604 rs541940975 A G -0.0003293 0.0142551 0.9800000 0.9815691 0.193476 0.1475640 75244
1 14933 rs199856693 G A 0.0242026 0.0263428 0.3599996 0.3582233 0.047152 0.0283546 75244
CHROM POS ID REF ALT EFFECT SE PVAL PVAL_ztest AF AF_reference N
22 51233347 rs62240044 T C 0.0112073 0.0095614 0.2399999 0.2411389 0.275895 0.2134580 75244
22 51233666 rs11091014 C T -0.0332323 0.0337818 0.3300000 0.3252464 0.020872 0.0970447 75244
22 51234343 rs374867791 G T -0.0335696 0.0337574 0.3200000 0.3200103 0.021048 0.1002400 75244
22 51234799 rs191117135 G A 0.0346197 0.0349438 0.3200000 0.3218198 0.015260 0.0059904 75244
22 51235959 rs200189535 T C 0.0041788 0.0112444 0.7099994 0.7101688 0.192540 0.1996810 75244
22 51236013 rs200507571 A AT 0.0016115 0.0095307 0.8700001 0.8657312 0.252329 0.1487620 75244
22 51237063 rs3896457 T C 0.0077122 0.0091942 0.4000000 0.4015769 0.294328 0.2050720 75244
22 51237364 rs200607599 A G -0.0324491 0.0387455 0.4000000 0.4023153 0.015952 0.0187700 75244
22 51237712 rs370652263 G A -0.0123933 0.0176561 0.4799997 0.4827245 0.055591 0.0690895 75244
22 51244237 rs575160859 C T -0.0852785 0.0456595 0.0619998 0.0618031 0.013418 0.0037939 75244

bcf preview

1   10177   rs367896724 A   AC  .   PASS    AF=0.402314 ES:SE:LP:AF:SS:ID   0.0119994:0.0109569:0.568636:0.402314:75244:rs367896724
1   10352   rs555500075 T   TA  .   PASS    AF=0.390095 ES:SE:LP:AF:SS:ID   0.00588752:0.0114187:0.21467:0.390095:75244:rs555500075
1   11008   rs575272151 C   G   .   PASS    AF=0.086367 ES:SE:LP:AF:SS:ID   -0.0134932:0.0189901:0.318759:0.086367:75244:rs575272151
1   11012   rs544419019 C   G   .   PASS    AF=0.086367 ES:SE:LP:AF:SS:ID   -0.0134932:0.0189901:0.318759:0.086367:75244:rs544419019
1   13110   rs540538026 G   A   .   PASS    AF=0.059597 ES:SE:LP:AF:SS:ID   -0.0272931:0.0243672:0.585027:0.059597:75244:rs540538026
1   13116   rs62635286  T   G   .   PASS    AF=0.188535 ES:SE:LP:AF:SS:ID   0.0219601:0.0149497:0.853872:0.188535:75244:rs62635286
1   13273   rs531730856 G   C   .   PASS    AF=0.133959 ES:SE:LP:AF:SS:ID   -0.0268663:0.017249:0.920819:0.133959:75244:rs531730856
1   14464   rs546169444 A   T   .   PASS    AF=0.155098 ES:SE:LP:AF:SS:ID   -0.00258822:0.0155657:0.0604807:0.155098:75244:rs546169444
1   14604   rs541940975 A   G   .   PASS    AF=0.193476 ES:SE:LP:AF:SS:ID   -0.000329318:0.0142551:0.00877392:0.193476:75244:rs541940975
1   14933   rs199856693 G   A   .   PASS    AF=0.047152 ES:SE:LP:AF:SS:ID   0.0242026:0.0263428:0.443698:0.047152:75244:rs199856693
1   15820   rs2691315   G   T   .   PASS    AF=0.27174  ES:SE:LP:AF:SS:ID   0.0263964:0.0130933:1.35655:0.27174:75244:rs2691315
1   15903   rs557514207 G   GC  .   PASS    AF=0.408683 ES:SE:LP:AF:SS:ID   -0.00487752:0.0109184:0.180456:0.408683:75244:rs557514207
1   16949   rs199745162 A   C   .   PASS    AF=0.020279 ES:SE:LP:AF:SS:ID   -0.0158633:0.0389057:0.167491:0.020279:75244:rs199745162
1   18849   rs533090414 C   G   .   PASS    AF=0.974295 ES:SE:LP:AF:SS:ID   0.0240933:0.0327771:0.337242:0.974295:75244:rs533090414
1   30923   rs806731    G   T   .   PASS    AF=0.903876 ES:SE:LP:AF:SS:ID   -0.00372411:0.019805:0.0705811:0.903876:75244:rs806731
1   47159   rs540662756 T   C   .   PASS    AF=0.065472 ES:SE:LP:AF:SS:ID   0.0131455:0.0233474:0.244125:0.065472:75244:rs540662756
1   49554   rs539322794 A   G   .   PASS    AF=0.097473 ES:SE:LP:AF:SS:ID   -0.00165616:0.0193842:0.0315171:0.097473:75244:rs539322794
1   51479   rs116400033 T   A   .   PASS    AF=0.209986 ES:SE:LP:AF:SS:ID   0.00086986:0.0138213:0.0222764:0.209986:75244:rs116400033
1   52238   rs2691277   T   G   .   PASS    AF=0.976797 ES:SE:LP:AF:SS:ID   0.0389661:0.039611:0.481486:0.976797:75244:rs2691277
1   54490   rs141149254 G   A   .   PASS    AF=0.151422 ES:SE:LP:AF:SS:ID   0.00015644:0.0155282:0.00436481:0.151422:75244:rs141149254
1   54716   rs569128616 C   T   .   PASS    AF=0.42454  ES:SE:LP:AF:SS:ID   -0.0200513:0.0116614:1.0655:0.42454:75244:rs569128616
1   55164   rs3091274   C   A   .   PASS    AF=0.981509 ES:SE:LP:AF:SS:ID   0.00152298:0.0438718:0.0132283:0.981509:75244:rs3091274
1   55326   rs3107975   T   C   .   PASS    AF=0.01603  ES:SE:LP:AF:SS:ID   -0.00854295:0.0467483:0.0705811:0.01603:75244:rs3107975
1   55545   rs28396308  C   T   .   PASS    AF=0.261517 ES:SE:LP:AF:SS:ID   0.00285746:0.0129868:0.0809219:0.261517:75244:rs28396308
1   57292   rs201418760 C   T   .   PASS    AF=0.02082  ES:SE:LP:AF:SS:ID   0.00190556:0.0406965:0.0177288:0.02082:75244:rs201418760
1   58814   rs114420996 G   A   .   PASS    AF=0.094084 ES:SE:LP:AF:SS:ID   0.0146243:0.0198687:0.337242:0.094084:75244:rs114420996
1   59040   rs62637815  T   C   .   PASS    AF=0.091395 ES:SE:LP:AF:SS:ID   0.00317759:0.0199066:0.0604807:0.091395:75244:rs62637815
1   60249   rs547227933 C   T   .   PASS    AF=0.01879  ES:SE:LP:AF:SS:ID   -0.0260974:0.0402291:0.283997:0.01879:75244:rs547227933
1   60351   rs62637817  A   G   .   PASS    AF=0.084746 ES:SE:LP:AF:SS:ID   0.0159889:0.0205844:0.356547:0.084746:75244:rs62637817
1   61920   rs62637820  G   A   .   PASS    AF=0.030102 ES:SE:LP:AF:SS:ID   -0.0238467:0.0336966:0.318759:0.030102:75244:rs62637820
1   63671   rs80011619  G   A   .   PASS    AF=0.160843 ES:SE:LP:AF:SS:ID   0.0127096:0.0151354:0.39794:0.160843:75244:rs80011619
1   64649   rs181431124 A   C   .   PASS    AF=0.027235 ES:SE:LP:AF:SS:ID   -0.0176195:0.0352053:0.207608:0.027235:75244:rs181431124
1   64931   rs62639104  G   A   .   PASS    AF=0.083092 ES:SE:LP:AF:SS:ID   0.0181303:0.0208862:0.408935:0.083092:75244:rs62639104
1   66219   rs181028663 A   T   .   PASS    AF=0.018879 ES:SE:LP:AF:SS:ID   -0.0127678:0.0388126:0.130768:0.018879:75244:rs181028663
1   68082   rs367789441 T   C   .   PASS    AF=0.072252 ES:SE:LP:AF:SS:ID   -0.0189417:0.0218079:0.408935:0.072252:75244:rs367789441
1   69428   rs140739101 T   G   .   PASS    AF=0.036251 ES:SE:LP:AF:SS:ID   0.00734635:0.0316045:0.0861861:0.036251:75244:rs140739101
1   69761   rs200505207 A   T   .   PASS    AF=0.075779 ES:SE:LP:AF:SS:ID   -0.0167916:0.0213484:0.366532:0.075779:75244:rs200505207
1   69897   rs200676709 T   C   .   PASS    AF=0.742291 ES:SE:LP:AF:SS:ID   0.00295361:0.0132206:0.0861861:0.742291:75244:rs200676709
1   72526   rs547237130 A   G   .   PASS    AF=0.041676 ES:SE:LP:AF:SS:ID   0.0211943:0.0293514:0.327902:0.041676:75244:rs547237130
1   73490   rs558384541 T   C   .   PASS    AF=0.017948 ES:SE:LP:AF:SS:ID   -0.00253241:0.0436803:0.0222764:0.017948:75244:rs558384541
1   74790   rs13328700  C   G   .   PASS    AF=0.035774 ES:SE:LP:AF:SS:ID   0.0158074:0.0296104:0.229148:0.035774:75244:rs13328700
1   74792   rs13328684  G   A   .   PASS    AF=0.035774 ES:SE:LP:AF:SS:ID   0.0158074:0.0296104:0.229148:0.035774:75244:rs13328684
1   76838   rs563953605 T   G   .   PASS    AF=0.078788 ES:SE:LP:AF:SS:ID   0.00217296:0.0212068:0.0362122:0.078788:75244:rs563953605
1   76854   rs367666799 A   G   .   PASS    AF=0.081423 ES:SE:LP:AF:SS:ID   -0.0147829:0.0206576:0.327902:0.081423:75244:rs367666799
1   77866   rs563593912 C   T   .   PASS    AF=0.078671 ES:SE:LP:AF:SS:ID   0.00203829:0.021209:0.0362122:0.078671:75244:rs563593912
1   77874   rs62641297  G   A   .   PASS    AF=0.078671 ES:SE:LP:AF:SS:ID   0.00203829:0.021209:0.0362122:0.078671:75244:rs62641297
1   78061   rs550898066 C   G   .   PASS    AF=0.010458 ES:SE:LP:AF:SS:ID   0.0138836:0.0556497:0.09691:0.010458:75244:rs550898066
1   81587   rs536406113 C   T   .   PASS    AF=0.062285 ES:SE:LP:AF:SS:ID   -0.02186:0.0231432:0.468521:0.062285:75244:rs536406113
1   82163   rs139113303 G   A   .   PASS    AF=0.079566 ES:SE:LP:AF:SS:ID   -0.010116:0.0208615:0.200659:0.079566:75244:rs139113303
1   82609   rs149189449 C   G   .   PASS    AF=0.079597 ES:SE:LP:AF:SS:ID   -0.0101461:0.020861:0.200659:0.079597:75244:rs149189449