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GGVCFs changes to revert "no data" calls to "./." and change GQ0 hom-refs to no-calls #8741

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merged 1 commit into from
Apr 10, 2024

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@ldgauthier ldgauthier commented Mar 14, 2024

Several GQ0 cleanup changes:
Set GGVCFs --all-sites GQ0 hom-refs to no-calls
Set regular GGVCFs GQ0 hom-refs to no-calls (any DP, PL) for better AF/AN annotations
Remove PLs in "no data" case where DP=0 for more accurate QUAL score

Users can expect ANs to be reduced where GQ0 hom-refs previously occurred. QUALs may be decreased where PL=[0,0,0] because those genotypes are no longer included in QUAL calculations. QD will change where QUAL changes. InbreedingCoeff and ExcessHet will change because GQ0 hom-refs don't count anymore. None of these changes significantly impacted NA12878 accuracy in exome and WGS tests.

@@ -56,26 +56,26 @@
##source=GenomicsDBImport
##source=SelectVariants
#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT CHMI_CHMI3_Nex1 NA12878 NA12891 NA12892 NA19238 NA20845 NA20846 NA20847 NA20849 NA20850 NA20851 NA20852 NA20853 NA20854 NA20856 NA20858 NA20859 NA20861 NA20862 NA20866 NA20869 NA20870 NA20871 NA20872 NA20873 NA20874 NA20875 NA20876 NA20877 NA20878 NA20881 NA20885 NA20886 NA20887 NA20888 NA20889 NA20890 NA20891 NA20892 NA20893 NA20894 NA20895 NA20896 NA20897 NA20898 NA20899 NA20901 NA20902 NA20903 NA20904 NA20905 NA20906 NA20908 NA20910 NA20911 NA21086 NA21087 NA21088 NA21093 NA21095 NA21114 NA21124 NA21126 NA21129 NA21137
chr1 3836468 . GTTTT GTTTTT,GTTTTTTT,G,GTTTTTT 882.48 . AC=3,2,1,3;AF=0.026,0.018,8.772e-03,0.026;AN=114;BaseQRankSum=0.00;DP=2100;ExcessHet=0.1247;FS=2.272;InbreedingCoeff=0.1698;MLEAC=2,2,1,3;MLEAF=0.018,0.018,8.772e-03,0.026;MQ=54.73;MQRankSum=0.00;QD=10.38;ReadPosRankSum=-2.300e-01;SOR=0.483 GT:AD:DP:GQ:PL 0/1:11,22,0,0,0:44:99:239,0,174,338,219,636,338,219,636,636,338,219,636,636,636 0/0:27,0,0,0,0:27:50 0/0:30,0,0,0,0:30:10 0/0:28,0,0,0,0:28:10 ./.:3,0,0,0,0:3:0 0/0:27,0,0,0,0:27:60 0/0:59,0,0,0,0:59:30 0/2:3,0,7,0,0:10:59:132,142,223,0,80,59,142,223,80,223,142,223,80,223,223 0/0:33,0,0,0,0:33:60 0/0:31,0,0,0,0:31:60 .:0,0,0,0,0 0/0:27,0,0,0,0:27:60 0/0:30,0,0,0,0:30:60 0/0:51,0,0,0,0:51:40 0/0:29,0,0,0,0:29:60 0/0:31,0,0,0,0:31:60 0/3:8,0,0,4,0:14:99:103,160,534,160,534,534,0,437,437,670,160,534,534,437,534 0/0:30,0,0,0,0:30:60 0/0:32,0,0,0,0:32:60 0/0:37,0,0,0,0:37:60 0/0:49,0,0,0,0:49:40 0/0:36,0,0,0,0:36:60 0/2:2,0,2,0,0:4:34:34,42,113,0,71,65,42,113,71,113,42,113,71,113,113 0/0:10,0,0,0,0:14:29:0,29,176,29,176,176,29,176,176,176,29,176,176,176,176 0/0:58,0,0,0,0:58:30 0/0:32,0,0,0,0:32:60 0/0:11,0,0,0,0:13:34:0,34,285,34,285,285,34,285,285,285,34,285,285,285,285 0/0:26,0,0,0,0:26:60 0/0:26,0,0,0,0:26:60 0/0:32,0,0,0,0:32:60 .:0,0,0,0,0 0/0:29,0,0,0,0:29:60 0/4:1,0,0,0,6:11:35:94,175,487,175,487,487,175,487,487,487,0,90,90,90,35 0/0:40,0,0,0,0:40:10 0/0:41,0,0,0,0:41:60 0/0:30,0,0,0,0:30:60 0/4:2,0,0,0,9:11:10:186,193,234,193,234,234,193,234,234,234,0,41,41,41,10 0/0:43,0,0,0,0:43:20 0/4:0,0,0,0,6:8:11:123,146,198,146,198,198,146,198,198,198,0,24,24,24,11 0/0:28,0,0,0,0:28:10 0/0:29,0,0,0,0:29:60 .:0,0,0,0,0 0/0:30,0,0,0,0:30:60 0/0:10,0,0,0,0:14:88:0,88,622,88,622,622,88,622,622,622,88,622,622,622,622 0/0:34,0,0,0,0:34:30 0/0:23,0,0,0,0:23:50 0/0:37,0,0,0,0:37:50 0/0:29,0,0,0,0:29:60 0/0:34,0,0,0,0:34:30 0/0:43,0,0,0,0:43:20 .:0,0,0,0,0 0/0:31,0,0,0,0:31:60 0/0:39,0,0,0,0:39:60 0/0:28,0,0,0,0:28:60 0/0:36,0,0,0,0:36:60 0/0:38,0,0,0,0:38:60 0/0:36,0,0,0,0:36:30 0/0:31,0,0,0,0:31:50 0/0:29,0,0,0,0:29:50 .:0,0,0,0,0 0/0:33,0,0,0,0:33:60 .:0,0,0,0,0 1/1:0,2,0,0,0:2:8:47,8,0,47,8,47,47,8,47,47,47,8,47,47,47 0/0:15,0,0,0,0:15:10 .:0,0,0,0,0
chr1 3836468 . GTTTT GTTTTT,GTTTTTTT,G,GTTTTTT 881.67 . AC=3,2,1,3;AF=0.026,0.018,8.772e-03,0.026;AN=114;BaseQRankSum=0.00;DP=2100;ExcessHet=0.1247;FS=2.272;InbreedingCoeff=0.1698;MLEAC=2,2,1,3;MLEAF=0.018,0.018,8.772e-03,0.026;MQ=54.73;MQRankSum=0.00;QD=10.37;ReadPosRankSum=-2.300e-01;SOR=0.483 GT:AD:DP:GQ:PL 0/1:11,22,0,0,0:44:99:239,0,174,338,219,636,338,219,636,636,338,219,636,636,636 0/0:27,0,0,0,0:27:50 0/0:30,0,0,0,0:30:10 0/0:28,0,0,0,0:28:10 ./.:3,0,0,0,0:3:0 0/0:27,0,0,0,0:27:60 0/0:59,0,0,0,0:59:30 0/2:3,0,7,0,0:10:59:132,142,223,0,80,59,142,223,80,223,142,223,80,223,223 0/0:33,0,0,0,0:33:60 0/0:31,0,0,0,0:31:60 .:0,0,0,0,0 0/0:27,0,0,0,0:27:60 0/0:30,0,0,0,0:30:60 0/0:51,0,0,0,0:51:40 0/0:29,0,0,0,0:29:60 0/0:31,0,0,0,0:31:60 0/3:8,0,0,4,0:14:99:103,160,534,160,534,534,0,437,437,670,160,534,534,437,534 0/0:30,0,0,0,0:30:60 0/0:32,0,0,0,0:32:60 0/0:37,0,0,0,0:37:60 0/0:49,0,0,0,0:49:40 0/0:36,0,0,0,0:36:60 0/2:2,0,2,0,0:4:34:34,42,113,0,71,65,42,113,71,113,42,113,71,113,113 0/0:10,0,0,0,0:14:29:0,29,176,29,176,176,29,176,176,176,29,176,176,176,176 0/0:58,0,0,0,0:58:30 0/0:32,0,0,0,0:32:60 0/0:11,0,0,0,0:13:34:0,34,285,34,285,285,34,285,285,285,34,285,285,285,285 0/0:26,0,0,0,0:26:60 0/0:26,0,0,0,0:26:60 0/0:32,0,0,0,0:32:60 .:0,0,0,0,0 0/0:29,0,0,0,0:29:60 0/4:1,0,0,0,6:11:35:94,175,487,175,487,487,175,487,487,487,0,90,90,90,35 0/0:40,0,0,0,0:40:10 0/0:41,0,0,0,0:41:60 0/0:30,0,0,0,0:30:60 0/4:2,0,0,0,9:11:10:186,193,234,193,234,234,193,234,234,234,0,41,41,41,10 0/0:43,0,0,0,0:43:20 0/4:0,0,0,0,6:8:11:123,146,198,146,198,198,146,198,198,198,0,24,24,24,11 0/0:28,0,0,0,0:28:10 0/0:29,0,0,0,0:29:60 .:0,0,0,0,0 0/0:30,0,0,0,0:30:60 0/0:10,0,0,0,0:14:88:0,88,622,88,622,622,88,622,622,622,88,622,622,622,622 0/0:34,0,0,0,0:34:30 0/0:23,0,0,0,0:23:50 0/0:37,0,0,0,0:37:50 0/0:29,0,0,0,0:29:60 0/0:34,0,0,0,0:34:30 0/0:43,0,0,0,0:43:20 .:0,0,0,0,0 0/0:31,0,0,0,0:31:60 0/0:39,0,0,0,0:39:60 0/0:28,0,0,0,0:28:60 0/0:36,0,0,0,0:36:60 0/0:38,0,0,0,0:38:60 0/0:36,0,0,0,0:36:30 0/0:31,0,0,0,0:31:50 0/0:29,0,0,0,0:29:50 .:0,0,0,0,0 0/0:33,0,0,0,0:33:60 .:0,0,0,0,0 1/1:0,2,0,0,0:2:8:47,8,0,47,8,47,47,8,47,47,47,8,47,47,47 0/0:15,0,0,0,0:15:10 .:0,0,0,0,0
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QUAL changed, so QD changed. I'm honestly not sure why QUAL changed when the PLs are all the same... I think the new one is correct because the old QUAL was the same in the previous PR with AN=116

@@ -1550,7 +1550,7 @@
20 10001434 . G . . . DP=44 GT:AD:DP:RGQ 0/0:44:44:18
20 10001435 . A . . . DP=44 GT:AD:DP:RGQ 0/0:38:44:0
20 10001436 . A AAGGCT 1872.03 . AC=2;AF=1.00;AN=2;DP=43;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=220.07;MQ0=0;QD=25.36;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,42:42:99:1886,125,0
20 10001437 . A . . . DP=44 GT:AD:DP:RGQ 0/0:2:44:0
20 10001437 . A . . . DP=44 GT:AD:DP:RGQ ./.:2:44:0
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Mission accomplished

@droazen
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droazen commented Mar 15, 2024

@ldgauthier Is this one ready for review?

//combine not supported yet, see https://github.com/broadinstitute/gatk/issues/2429 and https://github.com/broadinstitute/gatk/issues/2584
//{"combine.single.sample.pipeline.1.vcf", null, Arrays.asList("-V", getTestFile("combine.single.sample.pipeline.2.vcf").toString() , "-V", getTestFile("combine.single.sample.pipeline.3.vcf").toString()), b37_reference_20_21},
/*

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Reenable tests -- oops

Assert.assertEquals(g.getAD(), new int[2]);
Assert.assertTrue(g.hasPL());
Assert.assertEquals(g.getPL(), new int[3]);
Assert.assertFalse(g.hasGQ());
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These are "no data" no calls that we're going to change to ./.

Assert.assertTrue(g.hasDP());
Assert.assertEquals(g.getDP(), 0);
Assert.assertTrue(g.hasAD()); //this is different from Gnarly behavior
Assert.assertFalse(g.hasGQ());
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These are "no data" no calls that we're going to change to ./.

Assert.assertEquals(g.getGQ(), 0);
Assert.assertTrue(g.hasDP());
Assert.assertEquals(g.getDP(), 0);
Assert.assertFalse(g.hasGQ());
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These are "no data" no calls that we're going to change to ./.

@@ -3401,4 +3401,4 @@
##contig=<ID=HLA-DRB1*16:02:01,length=11005>
##source=SelectVariants
#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT HG00096 HG00268 HG00419 HG00759 HG01051 HG01112 HG01500 HG01565 HG01583 HG01595 HG01879 HG02568 HG02922 HG03006 HG03052 HG03642 HG03742 NA18525 NA18939 NA19017 NA19625 NA19648 NA20502 NA20845
chr21 28341778 . G A 479.87 . AC=1;AF=0.022;AN=46;BaseQRankSum=1.12;ClippingRankSum=0.329;DP=914;ExcessHet=0.0000;FS=6.865;InbreedingCoeff=0.1268;MLEAC=1;MLEAF=0.022;MQ=59.29;MQRankSum=0.152;QD=9.79;RAW_MQ=298800.00;ReadPosRankSum=-2.530e-01;SOR=0.236 GT:AD:DP:GQ:PL 0/0:35,0:35:99:0,99,1210 0/0:44,0:44:99:0,105,1317 0/0:43,0:43:0:0,0,83 0/0:54,0:54:0:0,0,524 0/0:34,0:34:99:0,99,1061 0/0:44,0:44:99:0,107,1464 0/0:38,0:38:99:0,101,1138 0/0:32,0:34:94:0,94,831 0/0:40,0:40:99:0,103,1210 0/0:36,0:36:99:0,103,1055 0/0:39,0:39:99:0,104,1179 0/0:17,0:17:51:0,51,471 0/0:39,0:39:99:0,110,1170 0/0:35,0:35:99:0,105,1040 0/0:36,0:36:99:0,99,1030 0/0:32,0:32:0:0,0,266 0/0:43,0:43:99:0,100,1295 0/0:35,0:35:99:0,105,1071 0/0:34,0:34:99:0,99,1056 0/0:34,0:34:99:0,102,1031 ./.:36,0:36:0:0,0,0 0/1:28,21:49:99:493,0,646 0/0:42,0:42:99:0,101,1499 0/0:41,0:41:99:0,103,1368
chr21 28341778 . G A 479.87 . AC=1;AF=0.025;AN=40;BaseQRankSum=1.12;ClippingRankSum=0.329;DP=914;ExcessHet=0.0000;FS=6.865;InbreedingCoeff=0.1268;MLEAC=1;MLEAF=0.025;MQ=37.37;MQRankSum=0.152;QD=9.79;RAW_MQ=298800.00;ReadPosRankSum=-2.530e-01;SOR=0.236 GT:AD:DP:GQ:PL 0/0:35,0:35:99:0,99,1210 0/0:44,0:44:99:0,105,1317 ./.:43,0:43:0:0,0,83 ./.:54,0:54:0:0,0,524 0/0:34,0:34:99:0,99,1061 0/0:44,0:44:99:0,107,1464 0/0:38,0:38:99:0,101,1138 0/0:32,0:34:94:0,94,831 0/0:40,0:40:99:0,103,1210 0/0:36,0:36:99:0,103,1055 0/0:39,0:39:99:0,104,1179 0/0:17,0:17:51:0,51,471 0/0:39,0:39:99:0,110,1170 0/0:35,0:35:99:0,105,1040 0/0:36,0:36:99:0,99,1030 ./.:32,0:32:0:0,0,266 0/0:43,0:43:99:0,100,1295 0/0:35,0:35:99:0,105,1071 0/0:34,0:34:99:0,99,1056 0/0:34,0:34:99:0,102,1031 ./.:36,0:36:0:0,0,0 0/1:28,21:49:99:493,0,646 0/0:42,0:42:99:0,101,1499 0/0:41,0:41:99:0,103,1368
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GQ0 hom-refs go to no-call so we can get better AF and AN values

@@ -117,4 +119,4 @@
##reference=file:///seq/references/Homo_sapiens_assembly19/v1/Homo_sapiens_assembly19.fasta
##source=SelectVariants
#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT Sample_0 Sample_1 Sample_10 Sample_100 Sample_101 Sample_102 Sample_103 Sample_104 Sample_105 Sample_106 Sample_107 Sample_108 Sample_109 Sample_11 Sample_110 Sample_111 Sample_112 Sample_113 Sample_114 Sample_115 Sample_116 Sample_117 Sample_118 Sample_119 Sample_12 Sample_120 Sample_121 Sample_122 Sample_123 Sample_124 Sample_125 Sample_126 Sample_127 Sample_128 Sample_129 Sample_13 Sample_130 Sample_131 Sample_132 Sample_133 Sample_134 Sample_135 Sample_136 Sample_137 Sample_138 Sample_139 Sample_14 Sample_140 Sample_141 Sample_142 Sample_143 Sample_144 Sample_145 Sample_146 Sample_147 Sample_148 Sample_149 Sample_15 Sample_150 Sample_151 Sample_152 Sample_153 Sample_154 Sample_155 Sample_156 Sample_157 Sample_158 Sample_159 Sample_16 Sample_160 Sample_161 Sample_162 Sample_163 Sample_164 Sample_165 Sample_166 Sample_167 Sample_168 Sample_169 Sample_17 Sample_170 Sample_171 Sample_172 Sample_173 Sample_174 Sample_175 Sample_176 Sample_177 Sample_178 Sample_179 Sample_18 Sample_180 Sample_181 Sample_182 Sample_183 Sample_184 Sample_185 Sample_186 Sample_187 Sample_188 Sample_189 Sample_19 Sample_190 Sample_191 Sample_192 Sample_193 Sample_194 Sample_195 Sample_196 Sample_197 Sample_198 Sample_199 Sample_2 Sample_20 Sample_200 Sample_201 Sample_202 Sample_203 Sample_204 Sample_205 Sample_206 Sample_207 Sample_208 Sample_209 Sample_21 Sample_210 Sample_211 Sample_212 Sample_213 Sample_214 Sample_215 Sample_216 Sample_217 Sample_218 Sample_219 Sample_22 Sample_220 Sample_221 Sample_222 Sample_223 Sample_224 Sample_225 Sample_226 Sample_227 Sample_228 Sample_229 Sample_23 Sample_230 Sample_231 Sample_232 Sample_233 Sample_234 Sample_235 Sample_236 Sample_237 Sample_238 Sample_239 Sample_24 Sample_240 Sample_241 Sample_242 Sample_243 Sample_244 Sample_245 Sample_246 Sample_247 Sample_248 Sample_249 Sample_25 Sample_250 Sample_251 Sample_252 Sample_253 Sample_254 Sample_255 Sample_256 Sample_257 Sample_258 Sample_259 Sample_26 Sample_260 Sample_261 Sample_262 Sample_263 Sample_264 Sample_265 Sample_266 Sample_267 Sample_268 Sample_269 Sample_27 Sample_270 Sample_271 Sample_272 Sample_273 Sample_274 Sample_275 Sample_276 Sample_277 Sample_278 Sample_279 Sample_28 Sample_280 Sample_281 Sample_282 Sample_283 Sample_284 Sample_285 Sample_286 Sample_287 Sample_288 Sample_289 Sample_29 Sample_290 Sample_291 Sample_292 Sample_293 Sample_294 Sample_295 Sample_296 Sample_297 Sample_298 Sample_3 Sample_30 Sample_31 Sample_32 Sample_33 Sample_34 Sample_35 Sample_36 Sample_37 Sample_38 Sample_39 Sample_4 Sample_40 Sample_41 Sample_42 Sample_43 Sample_44 Sample_45 Sample_46 Sample_47 Sample_48 Sample_49 Sample_5 Sample_50 Sample_51 Sample_52 Sample_53 Sample_54 Sample_55 Sample_56 Sample_57 Sample_58 Sample_59 Sample_6 Sample_60 Sample_61 Sample_62 Sample_63 Sample_64 Sample_65 Sample_66 Sample_67 Sample_68 Sample_69 Sample_7 Sample_70 Sample_71 Sample_72 Sample_73 Sample_74 Sample_75 Sample_76 Sample_77 Sample_78 Sample_79 Sample_8 Sample_80 Sample_81 Sample_82 Sample_83 Sample_84 Sample_85 Sample_86 Sample_87 Sample_88 Sample_89 Sample_9 Sample_90 Sample_91 Sample_92 Sample_93 Sample_94 Sample_95 Sample_96 Sample_97 Sample_98 Sample_99
20 1115540 . AC A 557.01 . AC=3;AF=5.017e-03;AN=598;BaseQRankSum=-3.770e-01;DP=3640;ExcessHet=0.0220;FS=0.000;InbreedingCoeff=-0.0217;MLEAC=3;MLEAF=5.017e-03;MQ=59.68;MQ0=0;MQRankSum=1.00;QD=12.38;ReadPosRankSum=0.462;SOR=0.760 GT:AD:DP:GQ:PL 0/0:12,0:12:36:0,36,406 0/0:12,0:12:31:0,31,464 0/0:8,0:8:18:0,18,270 0/0:10,0:10:21:0,21,315 0/0:5,0:5:15:0,15,211 0/0:7,0:7:21:0,21,242 0/0:22,0:22:60:0,60,678 0/0:12,0:12:28:0,28,423 0/0:7,0:7:21:0,21,213 0/0:9,0:9:21:0,21,315 0/0:10,0:10:30:0,30,335 0/0:8,0:8:21:0,21,315 0/0:24,0:24:60:0,60,823 0/0:6,0:6:12:0,12,164 0/0:12,0:12:27:0,27,396 0/0:2,0:2:6:0,6,64 0/0:9,0:9:21:0,21,308 0/0:21,0:21:60:0,60,900 0/0:23,0:23:60:0,60,750 0/0:9,0:9:21:0,21,312 0/0:5,0:5:9:0,9,135 0/0:12,0:12:24:0,24,360 0/0:7,0:7:21:0,21,249 0/0:10,0:10:21:0,21,312 0/0:10,0:10:21:0,21,315 0/0:10,0:10:21:0,21,315 0/0:7,0:7:21:0,21,222 0/0:9,0:9:14:0,14,212 0/0:14,0:14:36:0,36,464 0/0:25,0:25:69:0,69,1035 0/0:9,0:9:21:0,21,315 0/0:9,0:9:24:0,24,360 0/0:5,0:5:12:0,12,158 0/0:21,0:21:60:0,60,900 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20 1115540 . AC A 557.01 . AC=3;AF=5.051e-03;AN=594;BaseQRankSum=-3.770e-01;DP=3640;ExcessHet=0.0220;FS=0.000;InbreedingCoeff=-0.0217;MLEAC=3;MLEAF=5.051e-03;MQ=59.68;MQ0=0;MQRankSum=1.00;QD=12.38;ReadPosRankSum=0.462;SOR=0.760 GT:AD:DP:GQ:PL 0/0:12,0:12:36:0,36,406 0/0:12,0:12:31:0,31,464 0/0:8,0:8:18:0,18,270 0/0:10,0:10:21:0,21,315 0/0:5,0:5:15:0,15,211 0/0:7,0:7:21:0,21,242 0/0:22,0:22:60:0,60,678 0/0:12,0:12:28:0,28,423 0/0:7,0:7:21:0,21,213 0/0:9,0:9:21:0,21,315 0/0:10,0:10:30:0,30,335 0/0:8,0:8:21:0,21,315 0/0:24,0:24:60:0,60,823 0/0:6,0:6:12:0,12,164 0/0:12,0:12:27:0,27,396 0/0:2,0:2:6:0,6,64 0/0:9,0:9:21:0,21,308 0/0:21,0:21:60:0,60,900 0/0:23,0:23:60:0,60,750 0/0:9,0:9:21:0,21,312 0/0:5,0:5:9:0,9,135 0/0:12,0:12:24:0,24,360 0/0:7,0:7:21:0,21,249 0/0:10,0:10:21:0,21,312 0/0:10,0:10:21:0,21,315 0/0:10,0:10:21:0,21,315 0/0:7,0:7:21:0,21,222 0/0:9,0:9:14:0,14,212 0/0:14,0:14:36:0,36,464 0/0:25,0:25:69:0,69,1035 0/0:9,0:9:21:0,21,315 0/0:9,0:9:24:0,24,360 0/0:5,0:5:12:0,12,158 0/0:21,0:21:60:0,60,900 0/0:11,0:11:21:0,21,315 0/0:9,0:9:21:0,21,281 0/0:10,0:10:18:0,18,270 0/0:8,0:8:21:0,21,272 0/0:8,0:8:20:0,20,254 0/0:11,0:11:21:0,21,315 0/0:5,0:5:12:0,12,180 0/0:7,0:7:21:0,21,260 0/0:2,0:2:6:0,6,70 0/0:23,0:23:60:0,60,807 0/0:4,0:4:6:0,6,90 0/0:10,0:10:27:0,27,323 0/0:7,0:7:21:0,21,220 0/0:11,0:11:21:0,21,315 0/0:13,0:13:26:0,26,417 0/0:6,0:6:9:0,9,135 0/0:6,0:6:18:0,18,185 ./.:6,0:6:0:0,0,96 0/0:7,0:7:21:0,21,252 0/0:9,0:9:21:0,21,315 0/0:2,0:2:6:0,6,68 0/0:9,0:9:24:0,24,309 0/0:3,0:3:6:0,6,90 0/0:11,0:11:24:0,24,347 0/0:8,0:8:21:0,21,264 0/0:8,0:8:21:0,21,315 0/0:22,0:22:60:0,60,900 0/0:31,0:31:81:0,81,1215 0/0:24,0:24:60:0,60,900 0/0:17,0:17:26:0,26,578 0/0:13,0:13:19:0,19,401 0/0:9,0:9:24:0,24,295 0/0:22,0:22:60:0,60,770 0/0:24,0:24:63:0,63,945 0/0:8,0:8:21:0,21,315 0/0:7,0:7:18:0,18,270 0/0:8,0:8:21:0,21,272 0/0:6,0:6:18:0,18,201 0/0:5,0:5:15:0,15,154 0/0:24,0:24:60:0,60,900 0/0:25,0:25:60:0,60,900 0/0:7,0:7:21:0,21,281 0/0:2,0:2:6:0,6,74 0/0:19,0:19:42:0,42,630 0/0:22,0:22:60:0,60,890 0/0:9,0:9:21:0,21,315 0/0:25,0:25:60:0,60,882 0/0:24,0:24:60:0,60,900 0/0:3,0:3:6:0,6,96 0/0:7,0:7:21:0,21,242 0/0:7,0:7:21:0,21,293 0/0:9,0:9:27:0,27,294 0/0:3,0:3:9:0,9,98 0/0:9,0:9:21:0,21,315 0/0:6,0:6:18:0,18,182 0/0:8,0:8:12:0,12,216 0/0:9,0:9:21:0,21,315 0/0:6,0:6:12:0,12,180 0/0:7,0:7:18:0,18,270 0/0:7,0:7:21:0,21,222 0/0:4,0:4:6:0,6,90 0/0:7,0:7:21:0,21,245 0/0:6,0:6:15:0,15,178 0/0:4,0:4:6:0,6,90 0/0:9,0:9:21:0,21,276 0/0:8,0:8:21:0,21,315 0/0:5,0:5:9:0,9,135 0/0:24,0:24:60:0,60,900 0/0:3,0:3:6:0,6,90 0/0:3,0:3:9:0,9,109 0/0:7,0:7:21:0,21,240 0/0:5,0:5:12:0,12,180 0/0:29,0:29:75:0,75,1125 0/0:8,0:8:21:0,21,315 0/0:14,0:14:30:0,30,450 0/0:10,0:10:24:0,24,360 0/0:7,0:7:21:0,21,210 0/0:16,0:16:39:0,39,540 0/0:12,0:12:23:0,23,401 0/0:5,0:5:9:0,9,135 0/0:20,0:20:52:0,52,695 0/0:25,0:25:60:0,60,900 0/0:9,0:9:21:0,21,284 0/0:9,0:9:24:0,24,360 0/0:18,0:18:51:0,51,596 0/0:14,0:14:27:0,27,405 0/0:15,0:15:39:0,39,579 0/0:22,0:22:60:0,60,729 0/0:8,0:8:21:0,21,308 0/0:13,0:13:26:0,26,450 0/0:19,0:19:36:0,36,628 0/1:12,11:23:99:291,0,321 0/0:15,0:15:24:0,24,450 0/0:10,0:10:21:0,21,315 0/0:11,0:11:33:0,33,408 0/0:21,0:21:51:0,51,765 0/0:15,0:15:20:0,20,540 0/0:12,0:12:27:0,27,405 0/0:9,0:9:21:0,21,315 0/0:12,0:12:27:0,27,405 0/0:22,0:22:60:0,60,900 0/0:8,0:8:21:0,21,295 0/0:2,0:2:6:0,6,64 0/0:14,0:14:28:0,28,437 0/0:2,0:2:6:0,6,76 0/0:27,0:27:60:0,60,900 0/0:9,0:9:13:0,13,243 0/0:6,0:6:12:0,12,180 0/0:9,0:9:21:0,21,296 0/0:11,0:11:30:0,30,343 0/0:6,0:6:18:0,18,216 0/0:24,0:24:61:0,61,945 0/0:14,0:14:27:0,27,405 0/0:5,0:5:9:0,9,135 0/0:5,0:5:9:0,9,135 0/0:10,0:10:21:0,21,360 0/0:7,0:7:21:0,21,235 0/0:2,0:2:6:0,6,65 0/0:3,0:3:6:0,6,90 0/0:25,0:25:60:0,60,900 0/0:14,0:14:22:0,22,532 0/0:4,0:4:6:0,6,90 0/0:8,0:8:21:0,21,273 0/0:24,0:24:63:0,63,945 0/0:2,0:2:6:0,6,67 0/0:18,0:18:33:0,33,495 0/0:8,0:8:21:0,21,238 0/0:11,0:11:24:0,24,320 0/0:23,0:23:60:0,60,900 0/0:23,0:23:60:0,60,900 0/0:9,0:9:21:0,21,315 0/0:10,0:10:24:0,24,360 0/0:22,0:22:60:0,60,772 0/0:8,0:8:20:0,20,315 0/0:22,0:22:60:0,60,900 0/0:21,0:21:60:0,60,657 0/0:13,0:13:22:0,22,450 0/0:7,0:7:21:0,21,253 0/0:9,0:9:20:0,20,322 0/0:4,0:4:12:0,12,147 0/0:9,0:9:27:0,27,302 0/0:3,0:3:6:0,6,90 0/0:7,0:7:21:0,21,281 0/0:7,0:7:21:0,21,261 0/0:10,0:10:24:0,24,360 0/0:10,0:10:24:0,24,360 0/0:8,0:8:21:0,21,315 0/0:9,0:9:24:0,24,318 0/0:24,0:24:60:0,60,900 0/0:26,0:26:63:0,63,945 0/0:8,0:8:21:0,21,283 0/1:3,6:9:70:169,0,70 0/0:8,0:8:21:0,21,315 0/0:2,0:2:6:0,6,62 0/0:8,0:8:21:0,21,247 0/0:3,0:3:6:0,6,87 0/0:23,0:23:60:0,60,900 0/0:2,0:2:6:0,6,67 0/0:5,0:5:6:0,6,90 0/0:3,0:3:6:0,6,90 0/0:8,0:8:21:0,21,285 0/0:8,0:8:18:0,18,270 0/0:5,0:5:9:0,9,135 0/0:9,0:9:21:0,21,315 0/0:22,0:22:60:0,60,900 0/0:9,0:9:21:0,21,315 0/0:8,0:8:24:0,24,258 0/0:9,0:9:24:0,24,360 0/0:5,0:5:3:0,3,125 0/0:8,0:8:21:0,21,231 0/0:6,0:6:15:0,15,225 0/0:3,0:3:6:0,6,90 0/0:7,0:7:21:0,21,219 0/0:5,0:5:12:0,12,158 0/0:4,0:4:9:0,9,130 0/0:7,0:7:21:0,21,237 0/0:26,0:26:60:0,60,895 0/0:24,0:24:60:0,60,850 0/0:7,0:7:21:0,21,272 0/0:8,0:8:22:0,22,330 0/0:28,0:28:67:0,67,1080 0/0:22,0:22:26:0,26,683 0/0:11,0:11:24:0,24,360 0/0:26,0:26:63:0,63,894 0/0:22,0:22:60:0,60,900 0/0:9,0:9:21:0,21,315 0/0:19,0:19:22:0,22,686 0/0:25,0:25:60:0,60,900 0/0:25,0:25:57:0,57,855 0/0:8,0:8:21:0,21,279 0/0:27,0:27:63:0,63,945 0/0:26,0:26:63:0,63,898 0/0:9,0:9:21:0,21,315 0/0:8,0:8:21:0,21,315 0/0:11,0:11:21:0,21,315 0/0:21,0:21:60:0,60,707 0/0:8,0:8:21:0,21,315 0/0:10,0:10:3:0,3,244 0/0:25,0:25:63:0,63,935 0/0:4,0:4:12:0,12,146 0/0:23,0:23:60:0,60,900 ./.:9,0:9:0:0,0,237 0/0:23,0:23:60:0,60,900 0/0:18,0:18:42:0,42,615 0/0:9,0:9:21:0,21,315 0/0:19,0:19:45:0,45,627 0/0:9,0:9:21:0,21,315 0/0:23,0:23:50:0,50,670 0/0:13,0:13:23:0,23,405 0/0:10,0:10:21:0,21,315 0/0:8,0:8:21:0,21,315 0/0:2,0:2:6:0,6,71 0/0:10,0:10:27:0,27,403 0/0:8,0:8:21:0,21,315 0/0:7,0:7:10:0,10,253 0/0:4,0:4:9:0,9,135 0/0:21,0:21:60:0,60,900 0/0:10,0:10:21:0,21,315 0/0:7,0:7:21:0,21,190 0/0:12,0:12:33:0,33,458 0/0:13,0:13:30:0,30,450 0/0:8,0:8:21:0,21,315 0/0:14,0:14:24:0,24,360 0/0:6,0:6:15:0,15,175 0/0:22,0:22:60:0,60,658 0/0:11,0:11:21:0,21,315 0/0:8,0:8:21:0,21,315 0/0:11,0:11:27:0,27,405 0/0:13,0:13:27:0,27,405 0/0:10,0:10:21:0,21,315 0/0:26,0:26:60:0,60,900 0/0:21,0:21:63:0,63,700 0/0:19,0:19:57:0,57,594 0/0:22,0:22:60:0,60,900 0/0:25,0:25:63:0,63,945 0/0:23,0:23:69:0,69,752 0/0:15,0:15:36:0,36,540 0/0:8,0:8:21:0,21,273 0/0:27,0:27:63:0,63,945 0/0:7,0:7:21:0,21,234 0/0:12,0:12:29:0,29,361 0/0:14,0:14:30:0,30,450 0/0:12,0:12:24:0,24,360 0/0:8,0:8:21:0,21,290 0/0:27,0:27:60:0,60,900 0/0:10,0:10:21:0,21,315 0/0:23,0:23:60:0,60,900 0/0:21,0:21:48:0,48,720 0/0:8,0:8:21:0,21,261 0/0:9,0:9:21:0,21,315 0/0:9,0:9:21:0,21,315 0/0:20,0:20:60:0,60,614 0/0:15,0:15:22:0,22,495 0/0:11,0:11:21:0,21,315 0/0:20,0:20:51:0,51,765 0/0:13,0:13:27:0,27,405 0/0:21,0:21:60:0,60,900 0/0:24,0:24:60:0,60,900 0/0:23,0:23:60:0,60,870 0/1:7,6:13:99:156,0,188 0/0:13,0:13:27:0,27,405 0/0:24,0:24:60:0,60,900 0/0:8,0:8:21:0,21,315 0/0:7,0:7:21:0,21,241 0/0:16,0:16:30:0,30,450
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AN decreases because of a couple GQ0 hom-refs

20 10030911 . C . . . DP=1 GT:DP:RGQ 0/0:1:0
20 10030912 . A . . . DP=1 GT:DP:RGQ 0/0:1:0
20 10030913 . A . . . DP=1 GT:DP:RGQ 0/0:1:0
20 10030900 . T . . . DP=1 GT:DP:RGQ ./.:1:0
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GQ0 hom refs with DP>0 go to no-call

20 10031221 . A . . . . GT:DP:RGQ 0/0:0:0
20 10031222 . A . . . . GT:DP:RGQ 0/0:0:0
20 10031223 . G . . . . GT:DP:RGQ 0/0:0:0
20 10030942 . A . . . . GT ./.
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No data no-calls get their zero attributes stripped

20 10096906 . A * 0 LowQual AC=2;AF=1.00;AN=2;DP=2;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;QD=-0.00;SOR=0.693 GT:AD:DP:GQ:PGT:PID:PL 1/1:0,2:2:6:1|1:10096899_G_T:90,6,0 ./.:0,0:0:0:.:.:0,0,0 ./.:0,0:0:0:.:.:0,0,0
20 10096907 . A . . . DP=2 GT:DP:RGQ ./.:2:0 ./.:0:0 ./.:0:0
20 10624924 . TCA T 169.53 . AC=2;AF=0.333;AN=6;BaseQRankSum=0.103;ClippingRankSum=0.00;DP=56;ExcessHet=0.9691;FS=1.657;MLEAC=2;MLEAF=0.333;MQ=55.03;MQRankSum=0.754;QD=5.30;RAW_MQ=142331.00;ReadPosRankSum=120.50;SOR=0.287 GT:AD:DP:GQ:PGT:PID:PL 0/1:11,4:15:71:.:.:71,0,257 0/0:9,0:9:0:.:.:0,0,231 0/1:11,6:17:99:0|1:10624924_TCA_T:107,0,318
20 10096905 . TA T 78.28 . AC=2;AF=1.00;AN=2;DP=2;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;QD=25.36;RAW_MQ=7200.00;SOR=0.693 GT:AD:DP:GQ:PGT:PID:PL 1/1:0,2:2:6:1|1:10096899_G_T:90,6,0 ./. ./.
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QUAL decreases slightly once we get rid of [0,0,0] PLs

20 899938 . G C,* 4882.54 . AC=19,2;AF=0.731,0.077;AN=26;AS_BaseQRankSum=-1.400,.;AS_FS=0.000,0.000;AS_InbreedingCoeff=0.5553,0.4090;AS_MQ=40.66,0.00;AS_MQRankSum=-0.700,.;AS_QD=25.00,16.50;AS_ReadPosRankSum=0.000,.;AS_SOR=1.900,0.105;BaseQRankSum=-1.383e+00;ClippingRankSum=0.00;DP=124;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.5362;MLEAC=29,2;MLEAF=1.00,0.077;MQ=39.58;MQRankSum=-6.740e-01;QD=29.56;RAW_MQ=183275.00;ReadPosRankSum=0.00;SOR=1.811 GT:AD:DP:GQ:PGT:PID:PL 1/1:0,3,0:3:9:1|1:899928_G_C:135,9,0,135,9,135 1/1:0,14,0:14:45:1|1:899928_G_C:675,45,0,675,45,675 1/1:0,15,0:15:43:1|1:899928_G_C:633,43,0,633,43,633 ./.:0,0,0:0:0:.:.:0,0,0,0,0,0 ./.:0,0,0:0:0:.:.:0,0,0,0,0,0 ./.:0,0,0 ./.:1,0,0:1:0:.:.:0,0,0,0,0,0 1/1:0,8,0:8:24:1|1:899928_G_C:360,24,0,360,24,360 2/2:0,0,1:1:3:1|1:899928_G_C:45,45,45,3,3,0 ./.:1,0,0:1:0:.:.:0,0,0,0,0,0 ./.:2,0,0:2:0:.:.:0,0,0,0,0,0 ./.:1,0,0:1:0:.:.:0,0,0,0,0,0 1/1:0,6,0:6:18:1|1:899928_G_C:270,18,0,270,18,270 ./.:0,0,0 0/1:2,2,0:4:78:0|1:899928_G_C:78,0,282,84,288,372 ./.:0,0,0:0:0:.:.:0,0,0,0,0,0 1/1:0,48,0:48:99:1|1:899928_G_C:2194,147,0,2194,147,2194 1/1:0,4,0:4:12:1|1:899928_G_C:180,12,0,180,12,180 ./.:2,0,0:2:0:.:.:0,0,0,0,0,0 0/0:6,0,0:6:15:.:.:0,15,225,15,225,225 1/1:0,4,0:4:12:1|1:899928_G_C:180,12,0,180,12,180 1/1:0,2,0:2:6:1|1:899928_G_C:90,6,0,90,6,90 ./.:0,0,0:0:0:.:.:0,0,0,0,0,0 0/0:1,0,0:1:3:.:.:0,3,36,3,36,36
20 899942 . G A 4913.79 . AC=19;AF=0.792;AN=24;AS_BaseQRankSum=0.400;AS_FS=0.000;AS_InbreedingCoeff=0.5567;AS_MQ=44.39;AS_MQRankSum=-0.300;AS_QD=30.62;AS_ReadPosRankSum=-1.500;AS_SOR=1.893;BaseQRankSum=0.493;ClippingRankSum=0.00;DP=148;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.4850;MLEAC=30;MLEAF=1.00;MQ=43.13;MQRankSum=-2.530e-01;QD=28.17;RAW_MQ=264157.00;ReadPosRankSum=-1.501e+00;SOR=1.923 GT:AD:DP:GQ:PGT:PID:PL 1/1:0,3:3:9:1|1:899928_G_C:135,9,0 1/1:0,15:15:45:1|1:899928_G_C:636,45,0 1/1:0,16:16:45:1|1:899928_G_C:636,45,0 ./.:0,0:0:0:.:.:0,0,0 ./.:0,0:0:0:.:.:0,0,0 ./.:0,0 ./.:1,0:1:0:.:.:0,0,0 1/1:0,9:9:27:1|1:899928_G_C:366,27,0 ./.:3,0:3:0:.:.:0,0,0 ./.:0,0:0:0:.:.:0,0,0 ./.:2,0:2:0:.:.:0,0,0 ./.:1,0:1:0:.:.:0,0,0 1/1:0,7:7:19:1|1:899928_G_C:273,19,0 ./.:0,0 0/1:2,8:10:88:0|1:899928_G_C:88,0,274 ./.:0,0:0:0:.:.:0,0,0 1/1:0,58:58:99:1|1:899928_G_C:2217,159,0 1/1:0,5:5:13:1|1:899928_G_C:183,13,0 ./.:2,0:2:0:.:.:0,0,0 0/0:5,0:5:15:.:.:0,15,178 1/1:0,7:7:16:1|1:899928_G_C:189,16,0 1/1:0,2:2:6:1|1:899928_G_C:90,6,0 ./.:0,0:0:0:.:.:0,0,0 0/0:1,0:1:3:.:.:0,3,36
20 899928 . G C 4944.58 . AC=21;AF=0.808;AN=26;AS_BaseQRankSum=-1.400;AS_FS=0.000;AS_InbreedingCoeff=0.5339;AS_MQ=43.54;AS_MQRankSum=-0.700;AS_QD=25.36;AS_ReadPosRankSum=0.000;AS_SOR=1.863;BaseQRankSum=-1.383e+00;ClippingRankSum=0.00;DP=133;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.5089;MLEAC=25;MLEAF=0.962;MQ=42.34;MQRankSum=-6.740e-01;QD=28.73;RAW_MQ=222270.00;ReadPosRankSum=0.00;SOR=1.781 GT:AD:DP:GQ:PGT:PID:PL 1/1:0,3:3:9:1|1:899928_G_C:135,9,0 1/1:0,18:18:54:1|1:899928_G_C:767,54,0 1/1:0,15:15:45:1|1:899928_G_C:640,45,0 ./. ./. ./. ./. 1/1:0,9:9:27:1|1:899928_G_C:370,27,0 1/1:0,1:1:3:1|1:899928_G_C:45,3,0 ./.:1,0:1:0:.:.:0,0,0 ./.:2,0:2:0:.:.:0,0,0 ./.:3,0:3:0:.:.:0,0,0 1/1:0,5:5:15:1|1:899928_G_C:225,15,0 ./. 0/1:2,2:4:78:0|1:899928_G_C:78,0,282 ./. 1/1:0,51:51:99:1|1:899928_G_C:2229,153,0 1/1:0,3:3:9:1|1:899928_G_C:135,9,0 ./.:2,0:2:0:.:.:0,0,0 0/0:7,0:7:21:.:.:0,21,236 1/1:0,4:4:12:1|1:899928_G_C:168,12,0 1/1:0,2:2:6:1|1:899928_G_C:90,6,0 ./. 0/0:2,0:2:6:.:.:0,6,65
20 899933 . GGGGGGCGC G 30.86 . AC=2;AF=0.063;AN=32;AS_BaseQRankSum=.;AS_FS=0.000;AS_InbreedingCoeff=0.2616;AS_MQ=60.00;AS_MQRankSum=.;AS_QD=30.97;AS_ReadPosRankSum=.;AS_SOR=0.693;DP=128;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.3190;MLEAC=1;MLEAF=0.031;MQ=34.64;QD=30.86;RAW_MQ=3600.00;SOR=1.609 GT:AD:DP:GQ:PGT:PID:PL 0/0:3,0:3:9:.:.:0,9,97 0/0:18,0:18:27:.:.:0,27,405 0/0:15,0:15:24:.:.:0,24,360 ./. ./. ./. ./. 0/0:8,0:8:21:.:.:0,21,315 1/1:0,1:1:3:1|1:899928_G_C:45,3,0 0/0:1,0:1:3:.:.:0,3,33 ./.:2,0:2:0:.:.:0,0,0 0/0:1,0:1:3:.:.:0,3,34 0/0:6,0:6:15:.:.:0,15,225 ./. 0/0:4,0:4:9:.:.:0,9,135 ./. 0/0:52,0:52:99:.:.:0,120,1800 0/0:3,0:3:9:.:.:0,9,115 0/0:2,0:2:3:.:.:0,3,45 0/0:6,0:6:15:.:.:0,15,225 0/0:3,0:3:6:.:.:0,6,90 0/0:2,0:2:6:.:.:0,6,77 ./. 0/0:1,0:1:3:.:.:0,3,36
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Annotations like InbreedingCoeff (and sometimes ExcessHet) may also change once we get rid of 0,0,0 PLs

##reference=file:///humgen/1kg/reference/human_g1k_v37_decoy.fasta
##source=CombineGVCFs
#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT FAKE_SAMPLE GTEX-RVPV-0003
20 10000000 . T G,<NON_REF> . . DP=2;ExcessHet=3.01;RAW_MQ=7200.00 GT:AD:DP:GQ:MIN_DP:PL:SB ./.:0,2,0:2:6:.:49,6,0,49,6,49:0,0,1,1 ./.:.:0:0:0:0,0,0,0,0,0
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Input GVCF here has the "no data" no-call with zeros, but this will get cleaned up by GGVCFs

chr1 62121342 . T TAAA,TA,TTAAA,TTAA,TAA,TTA 22320.99 . AC=15,55,5,2,7,1;AF=0.117,0.430,0.039,0.016,0.055,7.813e-03;AN=128;BaseQRankSum=-1.710e-01;DP=2025;ExcessHet=7.3807;FS=0.000;InbreedingCoeff=-0.1398;MLEAC=15,55,5,2,7,1;MLEAF=0.117,0.430,0.039,0.016,0.055,7.813e-03;MQ=59.87;MQRankSum=0.00;QD=21.69;ReadPosRankSum=-2.820e-01;SOR=1.746 GT:AD:DP:GQ:PL 0/1:3,7,0,0,0,0,0:10:54:225,0,54,233,78,311,233,78,311,311,233,78,311,311,311,233,78,311,311,311,311,233,78,311,311,311,311,311 0/2:6,0,5,0,0,0,0:13:94:94,125,289,0,149,140,125,289,149,289,125,289,149,289,289,125,289,149,289,289,289,125,289,149,289,289,289,289 0/2:4,0,4,0,0,0,0:8:82:82,94,188,0,94,82,94,188,94,188,94,188,94,188,188,94,188,94,188,188,188,94,188,94,188,188,188,188 0/2:5,0,6,0,0,0,0:11:80:118,132,231,0,98,80,132,231,98,231,132,231,98,231,231,132,231,98,231,231,231,132,231,98,231,231,231,231 .:0,0,0,0,0,0,0 2/3:0,0,2,3,0,0,0:10:70:653,606,694,546,531,525,70,192,0,219,606,694,531,192,694,606,694,531,192,694,694,606,694,531,192,694,694,694 0/0:30,0,0,0,0,0,0:30:60 0/2:14,0,7,0,0,0,0:21:99:122,164,477,0,313,292,164,477,313,477,164,477,313,477,477,164,477,313,477,477,477,164,477,313,477,477,477,477 1/2:2,9,17,0,0,0,0:32:99:808,399,550,303,0,259,701,456,315,725,701,456,315,725,725,701,456,315,725,725,725,701,456,315,725,725,725,725 2/2:2,0,19,0,0,0,0:21:12:437,443,487,12,57,0,443,487,57,487,443,487,57,487,487,443,487,57,487,487,487,443,487,57,487,487,487,487 0/1:21,7,0,0,0,0,0:28:99:176,0,806,240,826,1066,240,826,1066,1066,240,826,1066,1066,1066,240,826,1066,1066,1066,1066,240,826,1066,1066,1066,1066,1066 0/4:14,0,0,0,15,0,0:31:99:454,507,1094,507,1094,1094,507,1094,1094,1094,0,642,642,642,793,507,1094,1094,1094,642,1094,507,1094,1094,1094,642,1094,1094 1/2:1,8,12,0,0,0,0:25:99:761,272,383,369,0,335,753,420,404,872,753,420,404,872,872,753,420,404,872,872,872,753,420,404,872,872,872,872 2/2:1,0,14,0,0,0,0:15:17:294,297,321,17,41,0,297,321,41,321,297,321,41,321,321,297,321,41,321,321,321,297,321,41,321,321,321,321 0/2:15,0,10,0,0,0,0:25:99:185,230,583,0,353,323,230,583,353,583,230,583,353,583,583,230,583,353,583,583,583,230,583,353,583,583,583,583 0/2:4,0,13,0,0,0,0:17:40:259,271,349,0,78,40,271,349,78,349,271,349,78,349,349,271,349,78,349,349,349,271,349,78,349,349,349,349 3/4:0,0,0,17,6,0,0:23:87:1500,1113,1005,1113,1005,1005,206,202,202,87,472,464,464,0,353,1113,1005,1005,202,464,1005,1113,1005,1005,202,464,1005,1005 1/2:2,4,6,0,0,0,0:15:99:344,110,215,142,0,148,283,176,171,327,283,176,171,327,327,283,176,171,327,327,327,283,176,171,327,327,327,327 0/2:8,0,7,0,0,0,0:16:99:138,158,372,0,186,147,158,372,186,372,158,372,186,372,372,158,372,186,372,372,372,158,372,186,372,372,372,372 0/2:3,0,18,0,0,0,0:21:16:413,422,492,0,70,16,422,492,70,492,422,492,70,492,492,422,492,70,492,492,492,422,492,70,492,492,492,492 1/2:1,7,12,0,0,0,0:20:99:589,302,383,243,0,191,584,367,247,619,584,367,247,619,619,584,367,247,619,619,619,584,367,247,619,619,619,619 1/2:2,2,9,0,0,0,0:17:99:418,195,316,115,0,111,332,303,133,411,332,303,133,411,411,332,303,133,411,411,411,332,303,133,411,411,411,411 1/5:0,10,0,0,0,3,0:13:36:605,82,36,489,81,450,489,81,450,450,489,81,450,450,450,262,0,259,259,259,215,489,81,450,450,450,259,450 0/2:5,0,22,0,0,0,0:27:36:502,517,619,0,102,36,517,619,102,619,517,619,102,619,619,517,619,102,619,619,619,517,619,102,619,619,619,619 0/2:5,0,28,0,0,0,0:33:17:661,675,777,0,101,17,675,777,101,777,675,777,101,777,777,675,777,101,777,777,777,675,777,101,777,777,777,777 0/3:8,0,0,5,0,0,0:17:99:428,473,1081,473,1081,1081,0,629,629,643,473,1081,1081,629,1081,473,1081,1081,629,1081,1081,473,1081,1081,629,1081,1081,1081 0/2:10,0,9,0,0,0,0:19:99:181,211,448,0,237,210,211,448,237,448,211,448,237,448,448,211,448,237,448,448,448,211,448,237,448,448,448,448 0/2:5,0,13,0,0,0,0:20:71:327,325,461,0,125,71,325,461,125,461,325,461,125,461,461,325,461,125,461,461,461,325,461,125,461,461,461,461 1/2:0,4,8,0,0,0,0:14:99:496,217,245,203,0,157,412,266,182,448,412,266,182,448,448,412,266,182,448,448,448,412,266,182,448,448,448,448 1/5:0,10,0,0,0,6,0:16:99:665,159,108,546,155,504,546,155,504,504,546,155,504,504,504,239,0,236,236,236,186,546,155,504,504,504,236,504 0/2:8,0,5,0,0,0,0:13:89:89,113,286,0,172,157,113,286,172,286,113,286,172,286,286,113,286,172,286,286,286,113,286,172,286,286,286,286 2/5:1,0,7,0,0,4,0:16:95:336,282,291,114,120,95,282,291,120,291,282,291,120,291,291,139,168,0,168,168,145,282,291,120,291,291,168,291 0/2:5,0,13,0,0,0,0:18:81:290,305,425,0,120,81,305,425,120,425,305,425,120,425,425,305,425,120,425,425,425,305,425,120,425,425,425,425 1/2:3,6,4,0,0,0,0:16:49:218,54,1171,49,0,82,175,162,110,258,175,162,110,258,258,175,162,110,258,258,258,175,162,110,258,258,258,258 2/5:1,0,11,0,0,3,0:17:44:388,331,349,70,82,44,331,349,82,349,331,349,82,349,349,234,264,0,264,264,248,331,349,82,349,349,264,349 2/2:2,0,19,0,0,0,0:21:9:427,433,481,9,57,0,433,481,57,481,433,481,57,481,481,433,481,57,481,481,481,433,481,57,481,481,481,481 0/2:11,0,9,0,0,0,0:20:99:178,211,470,0,259,232,211,470,259,470,211,470,259,470,470,211,470,259,470,470,470,211,470,259,470,470,470,470 0/2:4,0,25,0,0,0,0:29:0:596,608,686,0,78,0,608,686,78,686,608,686,78,686,686,608,686,78,686,686,686,608,686,78,686,686,686,686 1/2:2,4,3,0,0,0,0:9:30:280,30,114,140,0,157,259,113,187,319,259,113,187,319,319,259,113,187,319,319,319,259,113,187,319,319,319,319 0/0:28,0,0,0,0,0,0:28:30 0/2:5,0,28,0,0,0,0:33:10:645,658,752,0,94,10,658,752,94,752,658,752,94,752,752,658,752,94,752,752,752,658,752,94,752,752,752,752 0/2:12,0,10,0,0,0,0:22:99:198,234,501,0,267,237,234,501,267,501,234,501,267,501,501,234,501,267,501,501,501,234,501,267,501,501,501,501 1/2:0,4,12,0,0,0,0:22:99:559,320,367,209,0,150,489,361,164,497,489,361,164,497,497,489,361,164,497,497,497,489,361,164,497,497,497,497 0/2:9,0,10,0,0,0,0:19:99:191,218,430,0,212,182,218,430,212,430,218,430,212,430,430,218,430,212,430,430,430,218,430,212,430,430,430,430 2/5:1,0,12,0,0,4,0:17:53:382,372,394,74,99,53,372,394,99,394,372,394,99,394,394,251,283,0,283,283,273,372,394,99,394,394,283,394 2/2:0,0,13,0,0,0,0:13:39:343,343,344,39,39,0,343,344,39,344,343,344,39,344,344,343,344,39,344,344,344,343,344,39,344,344,344,344 0/2:2,0,15,0,0,0,0:17:0:352,358,405,0,48,0,358,405,48,405,358,405,48,405,405,358,405,48,405,405,405,358,405,48,405,405,405,405 0/2:6,0,15,0,0,0,0:21:92:368,387,527,0,140,92,387,527,140,527,387,527,140,527,527,387,527,140,527,527,527,387,527,140,527,527,527,527 0/2:3,0,18,0,0,0,0:21:17:396,405,476,0,71,17,405,476,71,476,405,476,71,476,476,405,476,71,476,476,476,405,476,71,476,476,476,476 0/2:3,0,18,0,0,0,0:21:14:432,441,512,0,71,14,441,512,71,512,441,512,71,512,512,441,512,71,512,512,512,441,512,71,512,512,512,512 0/2:2,0,5,0,0,0,0:12:50:119,133,203,0,70,50,133,203,70,203,133,203,70,203,203,133,203,70,203,203,203,133,203,70,203,203,203,203 0/5:8,0,0,0,0,4,0:12:92:92,117,386,117,386,386,117,386,386,386,117,386,386,386,386,0,269,269,269,269,257,117,386,386,386,386,269,386 3/6:0,0,0,13,0,0,4:17:94:1317,1011,924,1011,924,924,200,195,195,94,1011,924,924,195,924,1011,924,924,195,924,924,489,478,478,0,478,478,386 0/3:29,0,0,5,0,0,0:38:99:447,352,1473,352,1473,1473,0,1179,1179,1147,352,1473,1473,1179,1473,352,1473,1473,1179,1473,1473,352,1473,1473,1179,1473,1473,1473 0/0:33,0,0,0,0,0,0:33:10 1/2:2,4,7,0,0,0,0:16:99:351,132,245,139,0,151,322,266,179,445,322,266,179,445,445,322,266,179,445,445,445,322,266,179,445,445,445,445 2/2:1,0,16,0,0,0,0:19:29:416,412,436,29,54,0,412,436,54,436,412,436,54,436,436,412,436,54,436,436,436,412,436,54,436,436,436,436 0/1:11,5,0,0,0,0,0:16:99:198,0,407,231,428,659,231,428,659,659,231,428,659,659,659,231,428,659,659,659,659,231,428,659,659,659,659,659 0/0:32,0,0,0,0,0,0:32:40 2/2:2,0,16,0,0,0,0:18:1:369,375,422,1,48,0,375,422,48,422,375,422,48,422,422,375,422,48,422,422,422,375,422,48,422,422,422,422 2/5:0,0,7,0,0,3,0:10:55:280,267,260,86,83,55,267,260,83,260,267,260,83,260,260,163,163,0,163,163,151,267,260,83,260,260,163,260 0/0:14,0,0,0,0,0,0:14:10 2/2:0,0,3,0,0,0,0:3:9:79,79,79,9,9,0,79,79,9,79,79,79,9,79,79,79,79,9,79,79,79,79,79,9,79,79,79,79 0/2:5,0,3,0,0,0,0:8:39:39,54,171,0,117,108,54,171,117,171,54,171,117,171,171,54,171,117,171,171,171,54,171,117,171,171,171,171 0/2:15,0,4,0,0,0,0:19:71:71,117,471,0,354,339,117,471,354,471,117,471,354,471,471,117,471,354,471,471,471,117,471,354,471,471,471,471
chr1 62578717 . CAAAA CAAAAA,C,CAA,CAAAAAA,CAAA,CAAAAAAAA 1557.32 . AC=14,2,2,8,7,1;AF=0.179,0.026,0.026,0.103,0.090,0.013;AN=78;BaseQRankSum=0.00;DP=580;ExcessHet=0.4134;FS=0.000;InbreedingCoeff=0.1666;MLEAC=14,2,2,8,8,1;MLEAF=0.179,0.026,0.026,0.103,0.103,0.013;MQ=50.49;MQRankSum=-2.530e-01;QD=10.59;ReadPosRankSum=0.566;SOR=1.522 GT:AD:DP:GQ:PL 0/0:0,0,0,0,0,0,0:1:0:0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0 .:0,0,0,0,0,0,0 .:0,0,0,0,0,0,0 .:0,0,0,0,0,0,0 .:0,0,0,0,0,0,0 0/0:27,0,0,0,0,0,0:27:10 0/1:2,4,0,0,0,0,0:6:13:52,0,13,58,24,82,58,24,82,82,58,24,82,82,82,58,24,82,82,82,82,58,24,82,82,82,82,82 0/2:5,0,4,0,0,0,0:9:99:122,141,311,0,171,158,141,311,171,311,141,311,171,311,311,141,311,171,311,311,311,141,311,171,311,311,311,311 .:0,0,0,0,0,0,0 .:0,0,0,0,0,0,0 0/0:11,0,0,0,0,0,0:11:10 .:0,0,0,0,0,0,0 1/3:0,4,0,5,0,0,0:9:76:152,100,125,188,136,277,76,0,172,228,188,136,277,172,277,188,136,277,172,277,277,188,136,277,172,277,277,277 0/0:12,0,0,0,0,0,0:12:30 0/4:2,0,0,0,3,0,0:5:25:63,70,103,70,103,103,70,103,103,103,0,34,34,34,25,70,103,103,103,34,103,70,103,103,103,34,103,103 0/1:2,5,0,0,0,0,0:7:10:70,0,10,76,25,101,76,25,101,101,76,25,101,101,101,76,25,101,101,101,101,76,25,101,101,101,101,101 0/1:5,3,0,0,0,0,0:8:34:34,0,65,48,74,122,48,74,122,122,48,74,122,122,122,48,74,122,122,122,122,48,74,122,122,122,122,122 .:0,0,0,0,0,0,0 0/0:18,0,0,0,0,0,0:18:10 1/1:0,3,0,0,0,0,0:3:10:61,10,0,61,10,61,61,10,61,61,61,10,61,61,61,61,10,61,61,61,61,61,10,61,61,61,61,61 1/5:1,2,0,0,0,4,0:7:21:69,49,89,85,85,129,85,85,129,129,85,85,129,129,129,21,0,57,57,57,58,85,85,129,129,129,57,129 0/1:1,2,0,0,0,0,0:3:1:31,0,1,33,7,41,33,7,41,41,33,7,41,41,41,33,7,41,41,41,41,33,7,41,41,41,41,41 0/0:17,0,0,0,0,0,0:17:10 1/1:0,6,0,0,0,0,0:6:18:120,18,0,120,19,122,120,19,122,122,120,19,122,122,122,120,19,122,122,122,122,120,19,122,122,122,122,122 0/4:2,0,0,0,2,0,0:4:46:49,55,108,55,108,108,55,108,108,108,0,54,54,54,46,55,108,108,108,54,108,55,108,108,108,54,108,108 0/0:17,0,0,0,0,0,0:17:10 0/4:2,0,0,0,2,0,0:4:46:48,54,108,54,108,108,54,108,108,108,0,54,54,54,46,54,108,108,108,54,108,54,108,108,108,54,108,108 .:0,0,0,0,0,0,0 0/5:5,0,0,0,0,2,0:10:41:41,59,197,59,197,197,59,197,197,197,59,197,197,197,197,0,87,87,87,87,54,59,197,197,197,197,87,197 1/5:1,2,0,0,0,2,0:5:21:47,22,48,57,48,87,57,48,87,87,57,48,87,87,87,21,0,47,47,47,47,57,48,87,87,87,47,87 0/0:18,0,0,0,0,0,0:18:10 1/5:0,2,0,0,0,3,0:5:39:82,56,72,94,71,117,94,71,117,117,94,71,117,117,117,39,0,57,57,57,61,94,71,117,117,117,57,117 .:0,0,0,0,0,0,0 .:0,0,0,0,0,0,0 .:0,0,0,0,0,0,0 .:0,0,0,0,0,0,0 0/0:8,0,0,0,0,0,0:8:20 .:0,0,0,0,0,0,0 0/4:4,0,0,0,4,0,0:8:64:64,76,160,76,160,160,76,160,160,160,0,84,84,84,72,76,160,160,160,84,160,76,160,160,160,84,160,160 0/3:2,0,0,2,0,0,0:4:47:49,55,108,55,108,108,0,54,54,47,55,108,108,54,108,55,108,108,54,108,108,55,108,108,54,108,108,108 .:0,0,0,0,0,0,0 .:0,0,0,0,0,0,0 0/5:1,0,0,0,0,2,0:3:2:22,24,32,24,32,32,24,32,32,32,24,32,32,32,32,0,7,7,7,7,2,24,32,32,32,32,7,32 0/0:19,0,0,0,0,0,0:19:20 0/1:3,3,0,0,0,0,0:6:30:41,0,30,50,39,89,50,39,89,89,50,39,89,89,89,50,39,89,89,89,89,50,39,89,89,89,89,89 .:0,0,0,0,0,0,0 0/0:15,0,0,0,0,0,0:15:20 0/0:18,0,0,0,0,0,0:18:10 4/5:0,0,0,0,2,3,0:7:57:113,130,194,130,194,194,130,194,194,194,73,114,114,114,125,57,88,88,88,0,74,130,194,194,194,114,88,194 0/0:2,0,0,0,0,0,0:7:19:0,19,105,19,105,105,19,105,105,105,19,105,105,105,105,19,105,105,105,105,105,19,105,105,105,105,105,105 .:0,0,0,0,0,0,0 0/2:6,0,2,0,0,0,0:8:54:54,72,313,0,241,235,72,313,241,313,72,313,241,313,313,72,313,241,313,313,313,72,313,241,313,313,313,313 0/5:5,0,0,0,0,3,0:8:28:28,42,106,42,106,106,42,106,106,106,42,106,106,106,106,0,64,64,64,64,56,42,106,106,106,106,64,106 0/4:3,0,0,0,5,0,0:8:55:112,121,192,121,192,192,121,192,192,192,0,71,71,71,55,121,192,192,192,71,192,121,192,192,192,71,192,192 .:0,0,0,0,0,0,0 1/6:1,2,0,0,0,0,4:7:33:174,97,85,163,103,182,163,103,182,182,163,103,182,182,182,163,103,182,182,182,182,33,0,69,69,69,69,74 .:0,0,0,0,0,0,0 .:0,0,0,0,0,0,0 4/4:0,0,0,0,2,0,0:2:6:49,49,49,49,49,49,49,49,49,49,6,6,6,6,0,49,49,49,49,6,49,49,49,49,49,6,49,49 .:0,0,0,0,0,0,0 0/0:10,0,0,0,0,0,0:10:10 .:0,0,0,0,0,0,0 .:0,0,0,0,0,0,0 .:0,0,0,0,0,0,0 .:0,0,0,0,0,0,0
chr1 64634018 . GT GTT,G,GTTT,GTTTTTT,GTTTT 6096.03 . AC=20,15,3,1,1;AF=0.169,0.127,0.025,8.475e-03,8.475e-03;AN=118;BaseQRankSum=0.00;DP=2091;ExcessHet=32.0677;FS=1.168;InbreedingCoeff=-0.4330;MLEAC=20,16,3,1,1;MLEAF=0.169,0.136,0.025,8.475e-03,8.475e-03;MQ=59.14;MQRankSum=0.00;QD=6.38;ReadPosRankSum=-1.460e-01;SOR=0.862 GT:AD:DP:GQ:PGT:PID:PL 0/1:7,15,0,0,0,0:24:99:.:.:311,0,141,363,182,591,363,182,591,591,363,182,591,591,591,363,182,591,591,591,591 1/2:2,6,2,0,0,0:11:23:.:.:187,23,137,130,0,191,202,94,206,304,202,94,206,304,304,202,94,206,304,304,304 0/2:10,0,3,0,0,0:13:23:0|1:64634018_GT_G:23,52,280,0,228,219,52,280,228,280,52,280,228,280,280,52,280,228,280,280,280 0/0:6,0,0,0,0,0:14:17:.:.:0,17,214,17,214,214,17,214,214,214,17,214,214,214,214,17,214,214,214,214,214 .:0,0,0,0,0,0 0/1:23,9,0,0,0,0:35:97:.:.:97,0,454,162,504,717,162,504,717,717,162,504,717,717,717,162,504,717,717,717,717 0/0:30,0,0,0,0,0:30:60 ./.:15,0,0,0,0,0:15:0 0/2:25,0,7,0,0,0:34:99:.:.:102,191,848,0,514,420,191,848,514,848,191,848,514,848,848,191,848,514,848,848,848 0/0:28,0,0,0,0,0:28:60 0/1:11,15,0,0,0,0:26:99:0|1:64634018_G_GT:300,0,166,332,209,540,332,209,540,540,332,209,540,540,540,332,209,540,540,540,540 0/0:34,0,0,0,0,0:34:20 0/0:32,0,0,0,0,0:32:60 0/0:43,0,0,0,0,0:43:30 0/1:7,22,0,0,0,0:34:76:.:.:499,0,76,575,146,828,575,146,828,828,575,146,828,828,828,575,146,828,828,828,828 0/1:9,17,0,0,0,0:26:99:0|1:64634018_G_GT:325,0,128,352,174,526,352,174,526,526,352,174,526,526,526,352,174,526,526,526,526 0/1:15,7,0,0,0,0:22:79:.:.:79,0,281,124,302,426,124,302,426,426,124,302,426,426,426,124,302,426,426,426,426 0/1:17,6,0,0,0,0:25:24:.:.:24,0,375,92,403,575,92,403,575,575,92,403,575,575,575,92,403,575,575,575,575 0/3:8,0,0,11,0,0:35:99:.:.:264,334,632,334,632,632,0,288,288,449,334,632,632,288,632,334,632,632,288,632,632 0/1:12,23,0,0,0,0:42:99:.:.:567,0,226,638,286,976,638,286,976,976,638,286,976,976,976,638,286,976,976,976,976 0/0:24,0,0,0,0,0:24:30 0/1:17,7,0,0,0,0:28:90:.:.:90,0,444,154,458,613,154,458,613,613,154,458,613,613,613,154,458,613,613,613,613 0/0:33,0,0,0,0,0:33:50 0/3:14,0,0,14,0,0:30:99:.:.:274,342,851,342,851,851,0,486,486,579,342,851,851,486,851,342,851,851,486,851,851 0/0:39,0,0,0,0,0:39:60 0/0:26,0,0,0,0,0:39:99:.:.:0,105,1113,105,1113,1113,105,1113,1113,1113,105,1113,1113,1113,1113,105,1113,1113,1113,1113,1113 0/0:33,0,0,0,0,0:33:10 0/4:12,0,0,0,10,0:27:99:.:.:280,354,891,354,891,891,354,891,891,891,0,518,518,518,674,354,891,891,891,518,891 0/2:31,0,10,0,0,0:43:97:.:.:97,221,1092,0,855,881,221,1092,855,1092,221,1092,855,1092,1092,221,1092,855,1092,1092,1092 .:0,0,0,0,0,0 0/2:28,0,5,0,0,0:36:23:.:.:23,108,979,0,768,701,108,979,768,979,108,979,768,979,979,108,979,768,979,979,979 0/2:18,0,10,0,0,0:36:99:.:.:143,232,1037,0,788,750,232,1037,788,1037,232,1037,788,1037,1037,232,1037,788,1037,1037,1037 0/1:16,8,0,0,0,0:24:68:.:.:68,0,260,114,280,394,114,280,394,394,114,280,394,394,394,114,280,394,394,394,394 0/0:41,0,0,0,0,0:41:50 0/2:14,0,3,0,0,0:17:31:.:.:31,70,312,0,242,233,70,312,242,312,70,312,242,312,312,70,312,242,312,312,312 0/2:15,0,3,0,0,0:18:21:.:.:21,65,343,0,278,269,65,343,278,343,65,343,278,343,343,65,343,278,343,343,343 0/2:23,0,5,0,0,0:29:40:.:.:40,123,787,0,670,698,123,787,670,787,123,787,670,787,787,123,787,670,787,787,787 0/0:37,0,0,0,0,0:37:40 0/1:17,5,0,0,0,0:22:65:.:.:65,0,303,115,320,436,115,320,436,436,115,320,436,436,436,115,320,436,436,436,436 0/0:25,0,0,0,0,0:25:60 0/0:34,0,0,0,0,0:34:20 0/1:18,10,0,0,0,0:28:99:0|1:64634018_G_GT:216,0,248,267,279,546,267,279,546,546,267,279,546,546,546,267,279,546,546,546,546 0/2:27,0,6,0,0,0:37:24:.:.:24,130,917,0,790,843,130,917,790,917,130,917,790,917,917,130,917,790,917,917,917 ./.:38,0,0,0,0,0:38:0 0/0:30,0,0,0,0,0:30:60 0/2:15,0,5,0,0,0:20:70:.:.:70,115,556,0,441,426,115,556,441,556,115,556,441,556,556,115,556,441,556,556,556 0/5:10,0,0,0,0,18:32:99:.:.:501,561,1230,561,1230,1230,561,1230,1230,1230,561,1230,1230,1230,1230,0,626,626,626,626,608 0/2:13,0,4,0,0,0:24:31:.:.:31,106,844,0,664,619,106,844,664,844,106,844,664,844,844,106,844,664,844,844,844 0/0:28,0,0,0,0,0:33:84:0|1:64634018_GTT_G:0,84,1005,84,1005,1005,84,1005,1005,1005,84,1005,1005,1005,1005,84,1005,1005,1005,1005,1005 0/1:9,17,0,0,0,0:26:98:0|1:64634018_G_GT:395,0,98,421,148,569,421,148,569,569,421,148,569,569,569,421,148,569,569,569,569 0/2:15,0,6,0,0,0:23:62:.:.:62,132,599,0,469,526,132,599,469,599,132,599,469,599,599,132,599,469,599,599,599 0/1:9,12,0,0,0,0:26:99:.:.:313,0,119,287,185,477,287,185,477,477,287,185,477,477,477,287,185,477,477,477,477 0/1:7,13,0,0,0,0:24:99:.:.:220,0,114,280,157,503,280,157,503,503,280,157,503,503,503,280,157,503,503,503,503 0/0:33,0,0,0,0,0:33:10 0/2:29,0,5,0,0,0:34:18:.:.:18,102,684,0,581,567,102,684,581,684,102,684,581,684,684,102,684,581,684,684,684 0/3:8,0,0,13,0,0:35:99:.:.:450,491,710,491,710,710,0,211,211,208,491,710,710,211,710,491,710,710,211,710,710 0/1:25,5,0,0,0,0:32:2:.:.:2,0,737,110,759,1029,110,759,1029,1029,110,759,1029,1029,1029,110,759,1029,1029,1029,1029 0/2:35,0,6,0,0,0:41:21:0|1:64634018_GT_G:21,125,1079,0,954,936,125,1079,954,1079,125,1079,954,1079,1079,125,1079,954,1079,1079,1079 0/0:17,0,0,0,0,0:20:48:.:.:0,48,467,48,467,467,48,467,467,467,48,467,467,467,467,48,467,467,467,467,467 0/1:13,4,0,0,0,0:17:22:0|1:64634018_G_GT:22,0,290,60,302,361,60,302,361,361,60,302,361,361,361,60,302,361,361,361,361 0/1:19,5,0,0,0,0:24:32:.:.:32,0,467,89,483,573,89,483,573,573,89,483,573,573,573,89,483,573,573,573,573 .:0,0,0,0,0,0 0/1:2,0,0,0,0,0:9:0:.:.:27,0,69,0,69,69,0,69,69,69,0,69,69,69,69,0,69,69,69,69,69 ./.:5,0,0,0,0,0:5:0 0/0:28,0,0,0,0,0:28:30
chr1 3836468 . GTTTT GTTTTT,GTTTTTTT,G,GTTTTTT 881.67 . AC=3,2,1,3;AF=0.026,0.018,8.772e-03,0.026;AN=114;BaseQRankSum=0.00;DP=2100;ExcessHet=0.1247;FS=2.272;InbreedingCoeff=0.1698;MLEAC=2,2,1,3;MLEAF=0.018,0.018,8.772e-03,0.026;MQ=54.73;MQRankSum=0.00;QD=10.37;ReadPosRankSum=-2.300e-01;SOR=0.483 GT:AD:DP:GQ:PL 0/1:11,22,0,0,0:44:99:239,0,174,338,219,636,338,219,636,636,338,219,636,636,636 0/0:27,0,0,0,0:27:50 0/0:30,0,0,0,0:30:10 0/0:28,0,0,0,0:28:10 ./.:3,0,0,0,0:3:0 0/0:27,0,0,0,0:27:60 0/0:59,0,0,0,0:59:30 0/2:3,0,7,0,0:10:59:132,142,223,0,80,59,142,223,80,223,142,223,80,223,223 0/0:33,0,0,0,0:33:60 0/0:31,0,0,0,0:31:60 . 0/0:27,0,0,0,0:27:60 0/0:30,0,0,0,0:30:60 0/0:51,0,0,0,0:51:40 0/0:29,0,0,0,0:29:60 0/0:31,0,0,0,0:31:60 0/3:8,0,0,4,0:14:99:103,160,534,160,534,534,0,437,437,670,160,534,534,437,534 0/0:30,0,0,0,0:30:60 0/0:32,0,0,0,0:32:60 0/0:37,0,0,0,0:37:60 0/0:49,0,0,0,0:49:40 0/0:36,0,0,0,0:36:60 0/2:2,0,2,0,0:4:34:34,42,113,0,71,65,42,113,71,113,42,113,71,113,113 0/0:10,0,0,0,0:14:29:0,29,176,29,176,176,29,176,176,176,29,176,176,176,176 0/0:58,0,0,0,0:58:30 0/0:32,0,0,0,0:32:60 0/0:11,0,0,0,0:13:34:0,34,285,34,285,285,34,285,285,285,34,285,285,285,285 0/0:26,0,0,0,0:26:60 0/0:26,0,0,0,0:26:60 0/0:32,0,0,0,0:32:60 . 0/0:29,0,0,0,0:29:60 0/4:1,0,0,0,6:11:35:94,175,487,175,487,487,175,487,487,487,0,90,90,90,35 0/0:40,0,0,0,0:40:10 0/0:41,0,0,0,0:41:60 0/0:30,0,0,0,0:30:60 0/4:2,0,0,0,9:11:10:186,193,234,193,234,234,193,234,234,234,0,41,41,41,10 0/0:43,0,0,0,0:43:20 0/4:0,0,0,0,6:8:11:123,146,198,146,198,198,146,198,198,198,0,24,24,24,11 0/0:28,0,0,0,0:28:10 0/0:29,0,0,0,0:29:60 . 0/0:30,0,0,0,0:30:60 0/0:10,0,0,0,0:14:88:0,88,622,88,622,622,88,622,622,622,88,622,622,622,622 0/0:34,0,0,0,0:34:30 0/0:23,0,0,0,0:23:50 0/0:37,0,0,0,0:37:50 0/0:29,0,0,0,0:29:60 0/0:34,0,0,0,0:34:30 0/0:43,0,0,0,0:43:20 . 0/0:31,0,0,0,0:31:60 0/0:39,0,0,0,0:39:60 0/0:28,0,0,0,0:28:60 0/0:36,0,0,0,0:36:60 0/0:38,0,0,0,0:38:60 0/0:36,0,0,0,0:36:30 0/0:31,0,0,0,0:31:50 0/0:29,0,0,0,0:29:50 . 0/0:33,0,0,0,0:33:60 . 1/1:0,2,0,0,0:2:8:47,8,0,47,8,47,47,8,47,47,47,8,47,47,47 0/0:15,0,0,0,0:15:10 .
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In this variant QUAL decreases because the haploids with no data have their PLs stripped. Those were already no-calls so AC/AN remain the same.

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ldgauthier commented Apr 3, 2024

From WARP JG tests:
branch NA12878 exome results
type TP FP FN RECALL PRECISION
SNP 17518 141 769 0.958 0.992
INDEL 314 91 89 0.779 0.775

develop NA12878 exome results
type TP FP FN RECALL PRECISION
SNP 17514 173 773 0.958 0.99
INDEL 310 91 93 0.769 0.773

Slight improvement!

A lot of QUAL scores change, which is to be expected. A few crappy variants disappear entirely, like this one:

#CHROM	POS	ID	REF	ALT	QUAL	FILTER	INFO	FORMAT	CHMI_CHMI3_Nex1	NA12878	NA12891	NA12892	NA19238	NA20845	NA20846	NA20847	NA20849	NA20850	NA20851	NA20852	NA20853	NA20854	NA20856	NA20858	NA20859	NA20861	NA20862	NA20866	NA20869	NA20870	NA20871	NA20872	NA20873	NA20874	NA20875	NA20876	NA20877	NA20878	NA20881	NA20885	NA20886	NA20887	NA20888	NA20889	NA20890	NA20891	NA20892	NA20893	NA20894	NA20895	NA20896	NA20897	NA20898	NA20899	NA20901	NA20902	NA20903	NA20904	NA20905	NA20906	NA20908	NA20910	NA20911	NA21086	NA21087	NA21088	NA21093	NA21095	NA21114	NA21124	NA21126	NA21129	NA21137
chrM	15929	.	A	G	38.97	PASS	AC=2;AF=0.016;AN=128;AS_BaseQRankSum=.;AS_FS=0.000;AS_FilterStatus=PASS;AS_InbreedingCoeff=0.4169;AS_MQ=60.00;AS_MQRankSum=.;AS_QD=31.42;AS_ReadPosRankSum=.;AS_SOR=0.693;AS_VQSLOD=5.8384;AS_culprit=AS_MQ;DP=2328;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.4169;MLEAC=5;MLEAF=0.038;MQ=60.00;QD=32.95;SOR=1.609	GT:AD:DP:GQ:PL	0/0:98,0:98:40	0/0:314,0:314:40	0/0:684,0:684:40	0/0:440,0:440:40	0/0:4,0:4:0	0/0:4,0:4:0	0/0:4,0:4:0	0/0:4,0:4:0	0/0:4,0:4:0	0/0:6,0:6:0	0/0:4,0:4:0	0/0:4,0:4:0	0/0:1,0:1:0	0/0:5,0:5:0	0/0:4,0:4:0	0/0:5,0:5:00/0:4,0:4:0	0/0:4,0:4:0	0/0:4,0:4:0	0/0:5,0:5:0	0/0:4,0:4:0	0/0:33,0:33:40	0/0:4,0:4:0	0/0:4,0:4:0	0/0:19,0:19:40	0/0:5,0:5:0	0/0:4,0:4:0	0/0:2,0:2:0	0/0:3,0:3:0	0/0:2,0:2:00/0:4,0:4:0	1/1:0,1:1:3:35,3,0	0/0:1,0:1:0	0/0:9,0:9:0	0/0:0,0:0:0	0/0:4,0:4:0	0/0:4,0:4:0	0/0:4,0:4:0	0/0:4,0:4:0	0/0:5,0:5:0	0/0:2,0:2:0	0/0:9,0:9:20	0/0:4,0:4:0	0/0:6,0:6:0	0/0:4,0:4:0	0/0:5,0:5:0	0/0:1,0:1:0	0/0:4,0:4:0	0/0:5,0:5:0	0/0:5,0:5:0	0/0:3,0:3:0	0/0:1,0:1:0	0/0:4,0:4:0	0/0:4,0:4:0	0/0:4,0:4:0	0/0:5,0:5:0	0/0:4,0:4:0	0/0:5,0:5:0	0/0:1,0:1:0	0/0:6,0:6:0	0/0:2,0:2:0	0/0:118,0:118:40	0/0:4,0:4:0	0/0:401,0:401:40	0/0:2,0:2:0

Sadly a hom-var with RQQ (i.e. PL[0]) of 35 just shouldn't make it because of the prior, but all those GQ0 hom-refs had been giving it a boost.

There are a LOT of differences in the WES results that I'm working on systematically summarizing, but everything I've spot-checked looks reasonable.

Highlights from Picard variant_calling_summary_metrics for exome:
FILTERED_SNPS values differ. Value1: 14124 Value2: 15092 Changed by 968.0 (relative change of 0.06853582554517133)
PCT_DBSNP values differ. Value1: 0.785208 Value2: 0.786779 Changed by 0.0015709996223449707 (relative change of 0.0020007433045657057)
DBSNP_TITV values differ. Value1: 3.265418 Value2: 3.281538 Changed by 0.016119999999999912 (relative change of 0.004936580860398243)
NOVEL_TITV values differ. Value1: 2.38526 Value2: 2.4175 Changed by 0.032239999999999824 (relative change of 0.01351634622640711)
It's a pretty big difference in filtered SNPs, but the Ti/Tv values improve (keeping in mind we're looking at exome regions)

I found an issue with the Picard variant calling detail metrics, so I don't trust the PCT_GQ0 values. With our low coverage exome data it makes a pretty significant difference in the unfiltered callrate, so we should point that out in the release notes.

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ldgauthier commented Apr 4, 2024

WGS NA12878 results (over exome intervals)

test.summary.tsv
type TP FP FN RECALL PRECISION
SNP 18123 77 164 0.991 0.996
INDEL 395 7 8 0.98 0.983

truth.summary.tsv
type TP FP FN RECALL PRECISION
SNP 18138 84 149 0.992 0.995
INDEL 395 7 8 0.98 0.983

Pretty darn close to the same (and better than exomes -- we must still be using shorty exome reads? Because of crappy old 1000G data?)

Comparing WGS metrics, number of variants went down slightly, (esp. singletons), but that's because of the things buoyed up by GQ0s (value1 is expected, value2 is actual). A few selected metrics:
PCT_DBSNP values differ. Value1: 0.785048 Value2: 0.790694
NOVEL_TITV values differ. Value1: 1.975381 Value2: 1.99816
Both good!

PCT_DBSNP_INDELS values differ. Value1: 0.688828 Value2: 0.68689 Changed by -0.0019379854202270508 (relative change of -0.0028134533500118026)
Not good, but not bad if it's just 0.28%

For 4.5.0.0, callrate for VQSR-filtered WGS is 100%, i.e. there are no no-calls. In this PR the WGS callrate for our 30X (PCR-free?) whole genomes drops to about 95% since there are some low coverage sites and assembly failures.

Number of variants filtered for ExcessHet is unchanged in WGS and there's a <1% change in # of PASS sites because the QUAL and QD change a bit in some cases

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Github actions tests reported job failures from actions build 8570036475
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Mostly nit-picky comments, however i think you disabled some tests again!

More broadly i think this branch needs a better title/documentation somewhere of what the actual change is and what its consequences are. "Fix for GGVCFs --all-sites mode" is not informative since as far as i can tell the greedy behavior of downgrading ggvcf alleles and some of the other changes that result in stripping annotations are not related to all-sites mode at all. It needs to be clear that this strips annotations from 0GQ, 0PL genotypes and that can sometimes impact the QUAL calculations (admittedly by a minor factor, though your WARP tests seem to indicate its relevant). I'm not necessarily suggesting a blogpost but when David writes the patchnotes there should probably be a few sentences about the expected outcome.

I cannot really comment to how significant the WARP changes are... they look small in general and I'm not going to hold this up as we know anything that impacts the QUAL will cause jitter. Philosophically is this an acceptable change? Was it a mistake before that the annotations and QUALs were counting 0/0 nocalls that were not labeled as 0/0 nocalls and this what its doing now is more correct even though it might infinitesimally make some things worse for specific samples? Twitter probably thinks so...

+ actual.stream().map(Object::toString).collect(Collectors.joining("\n","actual:\n","\n"))
+ expected.stream().map(Object::toString).collect(Collectors.joining("\n","expected:\n","\n")));
for (int i = 0; i < actual.size(); i++) {
assertion.accept(actual.get(i), expected.get(i));
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I know this was moved from elsewhere but this is a minor nit, but probably include a more interesting message about the elemnt that mismatches and where it is in the list.

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This is why I never refactor anything.

new ReadsContext(reads, variantInterval, readFilter),
new ReferenceContext(reference, variantInterval),
new FeatureContext(features, variantInterval));
} catch (final IllegalStateException e) {
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Nice, though why specifically only IllegalStateException? Would we not want to wrap all exceptions?

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There's a GGVCFs test that looks for a UserException in a specific case. In my experience it's the IllegalStateExceptions that are the most annoying. We can always add more later.

@@ -494,7 +495,7 @@ static List<Genotype> cleanupGenotypeAnnotations(final VariantContext vc, final
* Does this genotype look like it has no reads and should be excluded from annotations?
*/
static boolean excludeFromAnnotations(Genotype oldGT) {
return oldGT.isHomRef() && !oldGT.hasPL()
return (oldGT.isHomRef() || oldGT.isNoCall())
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EXTREMELY minor comment...
(oldGT.hasDP() && oldGT.getDP() == 0) || !oldGT.hasDP())
-> !oldGT.hasDP() || oldGT.getDP() == 0

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Done

This method is probably on the chopping block for the refactor

Utils.listFromPrimitives(GenotypeLikelihoods.fromLog10Likelihoods(posteriors.get(genoIdx)).getAsPLs()));
Utils.listFromPrimitives(GenotypeLikelihoods.fromLog10Likelihoods(posteriors.get(genoIdx)).getAsPLs()));
//TODO: refactor me -- this is to make up for the GGVCFs changes fixing GQ0 hom-refs
if (!builder.makeWithShallowCopy().hasPL()) {
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this one is in the path of a lot of tools (HC M2 all of the genotypers) from what I could see. So if there is no PL when calculating the posterior probabilities for the genotypes we give it a score anyway so it gets included in the QUAL score calculations?

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Did you check using IntelliJ? It has a fairly generic name, but it's just in CalculateGenotypePosteriors and a HaplotypeCaller GVCF feature I tried and ought to deprecate because it actually made for bigger GVCFs.
image
I don't believe M2 touches this at all. You're probably thinking of the posteriors in the AlleleFrequency Calculator

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(Those numbers admittedly don't d add up, but I'm not hiding anything. The other hits are in the PosteriorProbabilityUtilsUnitTest)
image

@@ -314,6 +314,15 @@ public static void makeGenotypeCall(final int ploidy,
if(originalGT == null && assignmentMethod == GenotypeAssignmentMethod.BEST_MATCH_TO_ORIGINAL) {
throw new IllegalArgumentException("original GT cannot be null if assignmentMethod is BEST_MATCH_TO_ORIGINAL");
}
//only do this if we're not no-calling so CombineGVCFs and GenomicsDB keep attributes
if (assignmentMethod != GenotypeAssignmentMethod.SET_TO_NO_CALL && (originalGT.isHomRef() || originalGT.isNoCall()) && originalGT.hasGQ() && originalGT.getGQ() == 0) {
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its intentional here that this can be overridden if we are in most of the below genotyping modes?

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in ALL cases, downgrade GQ0 + DP0 calls to no-calls but if there is depth maybe let it be computed to something else depending on the genotyping mode?

@@ -314,6 +314,15 @@ public static void makeGenotypeCall(final int ploidy,
if(originalGT == null && assignmentMethod == GenotypeAssignmentMethod.BEST_MATCH_TO_ORIGINAL) {
throw new IllegalArgumentException("original GT cannot be null if assignmentMethod is BEST_MATCH_TO_ORIGINAL");
}
//only do this if we're not no-calling so CombineGVCFs and GenomicsDB keep attributes
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If you are really looking for a refactor... this method is a spiderweb of death... you might consider refactoring it to use a switch statement on the ployidy mode so its at least a little more parseable...

@DataProvider(name = "gvcfsToGenotype")
public Object[][] gvcfsToGenotype() {
return new Object[][]{
/*
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disabling tests again?!?!?

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to reduce the likelihood of this happening i suggest you comment out these tests with // line comments, that way its crystal clear for you/the reveiewer what tests are gone.

@@ -83,7 +100,28 @@ public void testMissingPriors() throws IOException {
" --" + StandardArgumentDefinitions.ADD_OUTPUT_VCF_COMMANDLINE +" false",
Collections.singletonList(largeDir + "CalculateGenotypePosteriors/expectedCGP_testMissingPriors.vcf")
);
spec.executeTest("testMissingPriors", this);
//spec.executeTest("testMissingPriors", this);
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comment

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also i think the IntegrationTestspec is now dead and can be removed?

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I couldn't figure out how to do the VC and genotypes check like we do for GGVCFs so I just put the exact match back. Next time I break it I'll switch to the assertMatchingVariantContexts

20 899937 . G T,* 4886.09 . AC=19,2;AF=0.731,0.077;AN=26;AS_BaseQRankSum=-1.000,.;AS_FS=0.000,0.000;AS_InbreedingCoeff=0.5390,0.3914;AS_MQ=40.57,0.00;AS_MQRankSum=-0.700,.;AS_QD=27.24,16.50;AS_ReadPosRankSum=0.000,.;AS_SOR=1.775,0.105;BaseQRankSum=-9.670e-01;ClippingRankSum=0.00;DP=126;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.5260;MLEAC=29,2;MLEAF=1.00,0.077;MQ=39.50;MQRankSum=-6.740e-01;QD=28.20;RAW_MQ=184116.00;ReadPosRankSum=0.00;SOR=1.697 GT:AD:DP:GQ:PGT:PID:PL 1/1:0,3,0:3:9:1|1:899928_G_C:135,9,0,135,9,135 1/1:0,15,0:15:45:1|1:899928_G_C:675,45,0,675,45,675 1/1:0,15,0:15:43:1|1:899928_G_C:633,43,0,633,43,633 ./.:0,0,0:0:0:.:.:0,0,0,0,0,0 ./.:0,0,0:0:0:.:.:0,0,0,0,0,0 ./.:0,0,0 ./.:1,0,0:1:0:.:.:0,0,0,0,0,0 1/1:0,8,0:8:24:1|1:899928_G_C:360,24,0,360,24,360 2/2:0,0,1:1:3:1|1:899928_G_C:45,45,45,3,3,0 ./.:1,0,0:1:0:.:.:0,0,0,0,0,0 ./.:2,0,0:2:0:.:.:0,0,0,0,0,0 ./.:1,0,0:1:0:.:.:0,0,0,0,0,0 1/1:0,6,0:6:18:1|1:899928_G_C:270,18,0,270,18,270 ./.:0,0,0 0/1:2,2,0:4:78:0|1:899928_G_C:78,0,282,84,288,372 ./.:0,0,0:0:0:.:.:0,0,0,0,0,0 1/1:0,48,0:48:99:1|1:899928_G_C:2194,147,0,2194,147,2194 1/1:0,4,0:4:12:1|1:899928_G_C:180,12,0,180,12,180 ./.:2,0,0:2:0:.:.:0,0,0,0,0,0 0/0:7,0,0:7:9:.:.:0,9,182,9,182,182 1/1:0,4,0:4:12:1|1:899928_G_C:180,12,0,180,12,180 1/1:0,2,0:2:6:1|1:899928_G_C:90,6,0,90,6,90 ./.:0,0,0:0:0:.:.:0,0,0,0,0,0 0/0:1,0,0:1:3:.:.:0,3,36,3,36,36
20 899938 . G C,* 4882.54 . AC=19,2;AF=0.731,0.077;AN=26;AS_BaseQRankSum=-1.400,.;AS_FS=0.000,0.000;AS_InbreedingCoeff=0.5553,0.4090;AS_MQ=40.66,0.00;AS_MQRankSum=-0.700,.;AS_QD=25.00,16.50;AS_ReadPosRankSum=0.000,.;AS_SOR=1.900,0.105;BaseQRankSum=-1.383e+00;ClippingRankSum=0.00;DP=124;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.5362;MLEAC=29,2;MLEAF=1.00,0.077;MQ=39.58;MQRankSum=-6.740e-01;QD=29.56;RAW_MQ=183275.00;ReadPosRankSum=0.00;SOR=1.811 GT:AD:DP:GQ:PGT:PID:PL 1/1:0,3,0:3:9:1|1:899928_G_C:135,9,0,135,9,135 1/1:0,14,0:14:45:1|1:899928_G_C:675,45,0,675,45,675 1/1:0,15,0:15:43:1|1:899928_G_C:633,43,0,633,43,633 ./.:0,0,0:0:0:.:.:0,0,0,0,0,0 ./.:0,0,0:0:0:.:.:0,0,0,0,0,0 ./.:0,0,0 ./.:1,0,0:1:0:.:.:0,0,0,0,0,0 1/1:0,8,0:8:24:1|1:899928_G_C:360,24,0,360,24,360 2/2:0,0,1:1:3:1|1:899928_G_C:45,45,45,3,3,0 ./.:1,0,0:1:0:.:.:0,0,0,0,0,0 ./.:2,0,0:2:0:.:.:0,0,0,0,0,0 ./.:1,0,0:1:0:.:.:0,0,0,0,0,0 1/1:0,6,0:6:18:1|1:899928_G_C:270,18,0,270,18,270 ./.:0,0,0 0/1:2,2,0:4:78:0|1:899928_G_C:78,0,282,84,288,372 ./.:0,0,0:0:0:.:.:0,0,0,0,0,0 1/1:0,48,0:48:99:1|1:899928_G_C:2194,147,0,2194,147,2194 1/1:0,4,0:4:12:1|1:899928_G_C:180,12,0,180,12,180 ./.:2,0,0:2:0:.:.:0,0,0,0,0,0 0/0:6,0,0:6:15:.:.:0,15,225,15,225,225 1/1:0,4,0:4:12:1|1:899928_G_C:180,12,0,180,12,180 1/1:0,2,0:2:6:1|1:899928_G_C:90,6,0,90,6,90 ./.:0,0,0:0:0:.:.:0,0,0,0,0,0 0/0:1,0,0:1:3:.:.:0,3,36,3,36,36
20 899942 . G A 4913.79 . AC=19;AF=0.792;AN=24;AS_BaseQRankSum=0.400;AS_FS=0.000;AS_InbreedingCoeff=0.5567;AS_MQ=44.39;AS_MQRankSum=-0.300;AS_QD=30.62;AS_ReadPosRankSum=-1.500;AS_SOR=1.893;BaseQRankSum=0.493;ClippingRankSum=0.00;DP=148;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.4850;MLEAC=30;MLEAF=1.00;MQ=43.13;MQRankSum=-2.530e-01;QD=28.17;RAW_MQ=264157.00;ReadPosRankSum=-1.501e+00;SOR=1.923 GT:AD:DP:GQ:PGT:PID:PL 1/1:0,3:3:9:1|1:899928_G_C:135,9,0 1/1:0,15:15:45:1|1:899928_G_C:636,45,0 1/1:0,16:16:45:1|1:899928_G_C:636,45,0 ./.:0,0:0:0:.:.:0,0,0 ./.:0,0:0:0:.:.:0,0,0 ./.:0,0 ./.:1,0:1:0:.:.:0,0,0 1/1:0,9:9:27:1|1:899928_G_C:366,27,0 ./.:3,0:3:0:.:.:0,0,0 ./.:0,0:0:0:.:.:0,0,0 ./.:2,0:2:0:.:.:0,0,0 ./.:1,0:1:0:.:.:0,0,0 1/1:0,7:7:19:1|1:899928_G_C:273,19,0 ./.:0,0 0/1:2,8:10:88:0|1:899928_G_C:88,0,274 ./.:0,0:0:0:.:.:0,0,0 1/1:0,58:58:99:1|1:899928_G_C:2217,159,0 1/1:0,5:5:13:1|1:899928_G_C:183,13,0 ./.:2,0:2:0:.:.:0,0,0 0/0:5,0:5:15:.:.:0,15,178 1/1:0,7:7:16:1|1:899928_G_C:189,16,0 1/1:0,2:2:6:1|1:899928_G_C:90,6,0 ./.:0,0:0:0:.:.:0,0,0 0/0:1,0:1:3:.:.:0,3,36
20 899928 . G C 4944.58 . AC=21;AF=0.808;AN=26;AS_BaseQRankSum=-1.400;AS_FS=0.000;AS_InbreedingCoeff=0.5339;AS_MQ=43.54;AS_MQRankSum=-0.700;AS_QD=25.36;AS_ReadPosRankSum=0.000;AS_SOR=1.863;BaseQRankSum=-1.383e+00;ClippingRankSum=0.00;DP=133;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.5089;MLEAC=25;MLEAF=0.962;MQ=42.34;MQRankSum=-6.740e-01;QD=28.73;RAW_MQ=222270.00;ReadPosRankSum=0.00;SOR=1.781 GT:AD:DP:GQ:PGT:PID:PL 1/1:0,3:3:9:1|1:899928_G_C:135,9,0 1/1:0,18:18:54:1|1:899928_G_C:767,54,0 1/1:0,15:15:45:1|1:899928_G_C:640,45,0 ./. ./. ./. ./. 1/1:0,9:9:27:1|1:899928_G_C:370,27,0 1/1:0,1:1:3:1|1:899928_G_C:45,3,0 ./.:1,0:1:0:.:.:0,0,0 ./.:2,0:2:0:.:.:0,0,0 ./.:3,0:3:0:.:.:0,0,0 1/1:0,5:5:15:1|1:899928_G_C:225,15,0 ./. 0/1:2,2:4:78:0|1:899928_G_C:78,0,282 ./. 1/1:0,51:51:99:1|1:899928_G_C:2229,153,0 1/1:0,3:3:9:1|1:899928_G_C:135,9,0 ./.:2,0:2:0:.:.:0,0,0 0/0:7,0:7:21:.:.:0,21,236 1/1:0,4:4:12:1|1:899928_G_C:168,12,0 1/1:0,2:2:6:1|1:899928_G_C:90,6,0 ./. 0/0:2,0:2:6:.:.:0,6,65
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man this file is somewhat of a misnomer at this point huh...the QUALs changing here are expected?

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can you explain why the quals change?

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I changed the file name to take the gatk3 out.

QUALs are reduced after the [0,0,0] PLs are removed, which is expected and I confirmed with a little experiment in the AlleleFrequencyCalculatorUnitTest class. Each sample is weighted equally (for better or for worse) so the fact that it's a toss up what genotype the no-calls have is actually treated as evidence that this is a non-reference site (which is what the QUAL is measuring). But the ./. with PL=[0,0,0] had NO READS! So I want to take the PLs out so they don't influence the QUAL.

Some concrete examples
POS 899928 has QUAL 4973.12 -> 4944.58
POS 899933 has QUAL 31.97 -> 30.86

Gnarly doesn't have this problem because it uses a heuristic instead of the AlleleFrequencyCalculator and in this respect the heuristic does a little better

Set GGVCFs --all-sites GQ0 hom-refs to no-calls
Set regular GGVCFs GQ0 hom-refs to no-calls (any DP, PL) for better AF/AN annotations
Remove PLs in "no data" case where DP=0 for more accurate QUAL score
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one more question, but now that the tests don't look like theyve been disabled its mostly a questoin of "correctness" and thats much more subjective

@@ -9063,8 +9063,8 @@
20 10008947 . T . . . DP=24 GT:AD:DP:RGQ 0/0:24:24:12
20 10008948 . TA T 1057.03 . AC=2;AF=1.00;AN=2;DP=24;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=168.45;MQ0=0;QD=23.23;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,24:24:78:1071,78,0
20 10008949 . A * 0 LowQual AC=2;AF=1.00;AN=2;DP=24;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;QD=-0.00;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,24:24:78:1071,78,0
20 10008950 . A . . . DP=24 GT:AD:DP:RGQ 0/0:5:24:0
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this case, where AD=5 and DP=24. we still want to downgrade it to a ./.?

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Yep, that's gross. I don't want that. The AD representing the ALT is getting dropped because of our non-variant site format, but AD[1]=DP-AD[0]=19!!! That's a heck of a lot of ALT reads so I don't want to call this a hom-ref. This is a gross thing we shouldn't put any confidence in so I stand by the GQ0 no-call.

@ldgauthier ldgauthier changed the title Fix for GGVCFs --all-sites mode GGVCFs changes to revert "no data" calls to "./." and change GQ0 hom-refs to no-calls Apr 10, 2024
@ldgauthier ldgauthier merged commit 7cdc985 into master Apr 10, 2024
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@ldgauthier ldgauthier deleted the ldg_fix_all_sites_no_calls branch April 10, 2024 12:37
This was referenced Jun 25, 2024
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4 participants