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Copy pathsmall_sample.scored.vcf
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small_sample.scored.vcf
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chr1 877831 . T C 1485.12 PASS AB=0;ABP=0;AC=4;ADP=45;AF=1;AN=4;AO=48;CIGAR=1X;DP=49;DPB=49;DPRA=0;EPP=11.8771;EPPR=0;GTI=0;HET=0;HOM=1;LEN=1;MEANALT=2;MQM=60;MQMR=0;NC=0;NS=1;NUMALT=1;ODDS=70.0487;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=1694;QR=0;RO=0;RPL=25;RPP=3.19126;RPPR=0;RPR=23;RUN=1;SAF=20;SAP=5.9056;SAR=28;SF=0,1;SRF=0;SRP=0;SRR=0;TYPE=snp;WT=0;MPMANN=line1855|NM_152486|c.T1027C;MPMTOOL=MP2;MPMSCORE=0.078;MPMMECH=Gain_of_Intrinsic_disorder,Altered_MoRF,Gain_of_Helix;MPMPROB=0.51,0.30,0.27;MPMPVAL=1.5e-03,0.02,0.05 GT:ADF:RO:PVAL:GL:GQ:RD:RBQ:SDP:QA:RDR:RDF:ABQ:AO:AD:DP:QR:ADR:FREQ 1/1:.:0:.:-152.518,-14.4494,0:.:.:.:.:1694:.:.:.:48:.:49:0 1/1:20:.:9.6314E-27:.:255:0:0:45:.:0:0:38:.:45:45:.:25:100%
chr1 878331 . C T 627.04 PASS AB=0.531915;ABP=3.42611;AC=2;ADP=43;AF=0.5;AN=4;AO=25;CIGAR=1X;DP=47;DPB=47;DPRA=0;EPP=10.0459;EPPR=9.32731;GTI=0;HET=1;HOM=0;LEN=1;MEANALT=1;MQM=60;MQMR=60;NC=0;NS=1;NUMALT=1;ODDS=121.95;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=920;QR=807;RO=22;RPL=16;RPP=7.26639;RPPR=6.56362;RPR=9;RUN=1;SAF=10;SAP=5.18177;SAR=15;SF=0,1;SRF=11;SRP=3.0103;SRR=11;TYPE=snp;WT=0;MPMANN=line1857|NM_152486|c.C1457T;MPMTOOL=MP2;MPMSCORE=0.028999999999999998;MPMMECH=Loss_of_Loop,Loss_of_B-factor,Gain_of_ADP-ribosylation_at_R482;MPMPROB=0.35,0.27,0.21;MPMPVAL=1.5e-03,0.03,0.03 GT:GQ:RD:GL:ADF:PVAL:RO:RDF:RDR:RBQ:QA:SDP:QR:AD:AO:DP:ABQ:FREQ:ADR 0/1:.:.:-68.9226,0,-58.745:.:.:22:.:.:.:920:.:807:.:25:47 0/1:91:19:.:9:6.4513E-10:.:8:11:40:.:43:.:24:.:43:37:55.81%:15
chr1 888659 . T C 1677.92 PASS AB=0;ABP=0;AC=4;ADP=46;AF=1;AN=4;AO=50;CIGAR=1X;DP=50;DPB=50;DPRA=0;EPP=3.18402;EPPR=0;GTI=0;HET=0;HOM=1;LEN=1;MEANALT=1;MQM=60;MQMR=0;NC=0;NS=1;NUMALT=1;ODDS=72.8213;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=1896;QR=0;RO=0;RPL=27;RPP=3.70517;RPPR=0;RPR=23;RUN=1;SAF=23;SAP=3.70517;SAR=27;SF=0,1;SRF=0;SRP=0;SRR=0;TYPE=snp;WT=0;MPMANN=line1885|NM_015658|c.A898G;MPMTOOL=MP2;MPMSCORE=0.01;MPMMECH=Loss_of_Helix;MPMPROB=0.27;MPMPVAL=0.04 GT:PVAL:ADF:RO:RD:GQ:GL:RDR:QA:SDP:RBQ:RDF:ABQ:QR:DP:AD:AO:ADR:FREQ 1/1:.:.:0:.:.:-170.795,-15.0515,0:.:1896:.:.:.:.:0:50:.:50 1/1:2.4343E-27:22:.:0:255:.:0:.:46:0:0:39:.:46:46:.:24:100%
chr1 909238 . G C 1957.54 PASS AB=0;ABP=0;AC=4;ADP=52;AF=1;AN=4;AO=56;CIGAR=1X;DP=56;DPB=56;DPRA=0;EPP=4.40625;EPPR=0;GTI=0;HET=0;HOM=1;LEN=1;MEANALT=1;MQM=60;MQMR=0;NC=0;NS=1;NUMALT=1;ODDS=81.139;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=2210;QR=0;RO=0;RPL=26;RPP=3.63072;RPPR=0;RPR=30;RUN=1;SAF=31;SAP=4.40625;SAR=25;SF=0,1;SRF=0;SRP=0;SRR=0;TYPE=snp;WT=0;MPMANN=line1950|NM_001160184|c.G1355C;MPMTOOL=MP2;MPMSCORE=0.028999999999999998;MPMMECH=Loss_of_Phosphorylation_at_T455,Gain_of_B-factor,Gain_of_O-linked_glycosylation_at_T455;MPMPROB=0.39,0.27,0.16;MPMPVAL=8.4e-03,0.01,0.03 GT:QA:SDP:RBQ:RDR:RDF:ADF:PVAL:RO:GL:RD:GQ:ADR:FREQ:ABQ:DP:AD:AO:QR 1/1:2210:.:.:.:.:.:.:0:-199.012,-16.8577,0:.:.:.:.:.:56:.:56:0 1/1:.:52:0:0:0:28:6.3169E-31:.:.:0:255:24:100%:40:52:52
chr1 911595 . A G 2051.59 PASS AB=0;ABP=0;AC=4;ADP=55;AF=1;AN=4;AO=59;CIGAR=1X;DP=59;DPB=59;DPRA=0;EPP=3.0471;EPPR=0;GTI=0;HET=0;HOM=1;LEN=1;MEANALT=1;MQM=59.4915;MQMR=0;NC=0;NS=1;NUMALT=1;ODDS=85.2979;PAIRED=0.983051;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=2320;QR=0;RO=0;RPL=33;RPP=4.81373;RPPR=0;RPR=26;RUN=1;SAF=24;SAP=7.46366;SAR=35;SF=0,1;SRF=0;SRP=0;SRR=0;TYPE=snp;WT=0;MPMANN=line1956|NM_001291367|c.T2048C;MPMTOOL=MP2;MPMSCORE=0.149;MPMMECH=Gain_of_Intrinsic_disorder,Altered_MoRF,Altered_Calmodulin_binding,Altered_DNA_binding,Altered_PPI_hotspot,Loss_of_Pyrrolidone_carboxylic_acid_at_Q682,Altered_Cytoplasmic_loop,Loss_of_Proteolytic_cleavage_at_R680,Loss_of_Amidation_at_Q685;MPMPROB=0.32,0.28,0.25,0.25,0.25,0.21,0.18,0.17,0.01;MPMPVAL=0.03,0.04,0.02,8.7e-03,0.03,1.9e-03,9.1e-03,7.0e-03,9.9e-04 GT:DP:AD:AO:QR:ABQ:FREQ:ADR:GL:RD:GQ:PVAL:ADF:RO:RDF:SDP:QA:RBQ:RDR 1/1:59:.:59:0:.:.:.:-208.737,-17.7608,0:.:.:.:.:0:.:.:2320 1/1:55:55:.:.:40:100%:34:.:0:255:1.0149E-32:21:.:0:55:.:0:0
chr1 914333 . C G 1596.62 PASS AB=0;ABP=0;AC=4;ADP=48;AF=1;AN=4;AO=49;CIGAR=1X;DP=49;DPB=49;DPRA=0;EPP=3.05462;EPPR=0;GTI=0;HET=0;HOM=1;LEN=1;MEANALT=1;MQM=60;MQMR=0;NC=0;NS=1;NUMALT=1;ODDS=71.435;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=1812;QR=0;RO=0;RPL=24;RPP=3.05462;RPPR=0;RPR=25;RUN=1;SAF=18;SAP=10.4997;SAR=31;SF=0,1;SRF=0;SRP=0;SRR=0;TYPE=snp;WT=0;MPMANN=line1997|NM_001291367|c.G1795C;MPMTOOL=MP2;MPMSCORE=0.024;MPMMECH=Gain_of_ADP-ribosylation_at_R595;MPMPROB=0.21;MPMPVAL=0.03 GT:ADF:RO:PVAL:GL:GQ:RD:RBQ:QA:SDP:RDR:RDF:ABQ:AD:AO:DP:QR:ADR:FREQ 1/1:.:0:.:-163.25,-14.7505,0:.:.:.:1812:.:.:.:.:.:49:49:0 1/1:17:.:1.554E-28:.:255:0:0:.:48:0:0:38:48:.:48:.:31:100%
chr1 914839 . C T 388.26 PASS AB=0.432432;ABP=4.47751;AC=2;ADP=36;AF=0.5;AN=4;AO=16;CIGAR=1X;DP=37;DPB=37;DPRA=0;EPP=3.55317;EPPR=3.94093;GTI=0;HET=1;HOM=0;LEN=1;MEANALT=1;MQM=60;MQMR=60;NC=0;NS=1;NUMALT=1;ODDS=89.4014;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=607;QR=826;RO=21;RPL=10;RPP=5.18177;RPPR=3.94093;RPR=6;RUN=1;SAF=9;SAP=3.55317;SAR=7;SF=0,1;SRF=12;SRP=3.94093;SRR=9;TYPE=snp;WT=0;MPMANN=line1998|NM_001291367|c.G1289A;MPMTOOL=MP2;MPMSCORE=0.018000000000000002;MPMMECH=Loss_of_ADP-ribosylation_at_R430,Gain_of_Loop,Gain_of_Pyrrolidone_carboxylic_acid_at_R430,Gain_of_O-linked_glycosylation_at_S428;MPMPROB=0.38,0.27,0.19,0.16;MPMPVAL=5.7e-04,0.02,2.3e-03,0.03 GT:ABQ:QR:AO:AD:DP:ADR:FREQ:RO:ADF:PVAL:GQ:RD:GL:RDR:RBQ:SDP:QA:RDF 0/1:.:826:16:.:37:.:.:21:.:.:.:.:-43.8068,0,-63.487:.:.:.:607 0/1:37:.:.:16:36:7:44.44%:.:9:1.7753E-6:57:20:.:9:40:36:.:11
chr1 914852 . G C 1217.00 PASS AB=0;ABP=0;AC=4;ADP=35;AF=1;AN=4;AO=35;CIGAR=1X;DP=36;DPB=36;DPRA=0;EPP=3.56868;EPPR=5.18177;GTI=0;HET=0;HOM=1;LEN=1;MEANALT=1;MQM=60;MQMR=60;NC=0;NS=1;NUMALT=1;ODDS=50.2973;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1379;QR=7;RO=1;RPL=18;RPP=3.07234;RPPR=5.18177;RPR=17;RUN=1;SAF=20;SAP=4.56135;SAR=15;SF=0,1;SRF=1;SRP=5.18177;SRR=0;TYPE=snp;WT=0;MPMANN=line1999|NM_001291367|c.C1276G;MPMTOOL=MP2;MPMSCORE=0.016;MPMMECH=Gain_of_B-factor,Loss_of_ADP-ribosylation_at_R430,Loss_of_O-linked_glycosylation_at_S424,Gain_of_Methylation_at_K421,Gain_of_Ubiquitylation_at_K421,Loss_of_Pyrrolidone_carboxylic_acid_at_Q426;MPMPROB=0.25,0.24,0.20,0.18,0.15,0.05;MPMPVAL=0.03,0.02,0.02,7.5e-03,0.05,0.04 GT:ADF:PVAL:RO:GL:RD:GQ:SDP:QA:RBQ:RDR:RDF:ABQ:DP:AO:AD:QR:ADR:FREQ 1/1:.:.:1:-123.628,-10.1371,0:.:.:.:1379:.:.:.:.:36:35:.:7 1/1:20:8.9137E-21:.:.:0:200:35:.:0:0:0:39:35:.:35:.:15:100%
chr1 914876 . T C 1663.36 PASS AB=0;ABP=0;AC=4;ADP=47;AF=1;AN=4;AO=47;CIGAR=1X;DP=47;DPB=47;DPRA=0;EPP=3.0565;EPPR=0;GTI=0;HET=0;HOM=1;LEN=1;MEANALT=1;MQM=60;MQMR=0;NC=0;NS=1;NUMALT=1;ODDS=68.6624;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=1904;QR=0;RO=0;RPL=15;RPP=16.3625;RPPR=0;RPR=32;RUN=1;SAF=31;SAP=13.4056;SAR=16;SF=0,1;SRF=0;SRP=0;SRR=0;TYPE=snp;WT=0;MPMANN=line2000|NM_001291367|c.A1252G;MPMTOOL=MP2;MPMSCORE=0.035;MPMMECH=Loss_of_Phosphorylation_at_S418,Gain_of_B-factor,Gain_of_Methylation_at_K421,Altered_Calmodulin_binding;MPMPROB=0.59,0.27,0.19,0.17;MPMPVAL=2.3e-03,0.01,6.4e-03,0.05 GT:GQ:RD:GL:ADF:PVAL:RO:RDF:RDR:RBQ:SDP:QA:QR:AD:AO:DP:ABQ:FREQ:ADR 1/1:.:.:-171.521,-14.1484,0:.:.:0:.:.:.:.:1904:0:.:47:47 1/1:255:0:.:31:6.1512E-28:.:0:0:0:47:.:.:47:.:47:38:100%:16
chr1 916549 . A G 1121.36 PASS AB=0;ABP=0;AC=4;ADP=31;AF=1;AN=4;AO=35;CIGAR=1X;DP=36;DPB=36;DPRA=0;EPP=3.07234;EPPR=0;GTI=0;HET=0;HOM=1;LEN=1;MEANALT=2;MQM=60;MQMR=0;NC=0;NS=1;NUMALT=1;ODDS=52.0269;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=1292;QR=0;RO=0;RPL=25;RPP=16.9698;RPPR=0;RPR=10;RUN=1;SAF=18;SAP=3.07234;SAR=17;SF=0,1;SRF=0;SRP=0;SRR=0;TYPE=snp;WT=0;MPMANN=line2003|NM_001291367|c.T58C;MPMTOOL=MP2;MPMSCORE=0.032;MPMMECH=Gain_of_ADP-ribosylation_at_W20,Loss_of_Loop,Gain_of_B-factor,Altered_Calmodulin_binding,Gain_of_Methylation_at_R24;MPMPROB=0.35,0.31,0.24,0.16,0.12;MPMPVAL=1.3e-03,5.6e-03,0.04,0.05,0.03 GT:PVAL:ADF:RO:GQ:RD:GL:RDR:RBQ:SDP:QA:RDF:ABQ:QR:AO:AD:DP:ADR:FREQ 1/1:.:.:0:.:.:-116.166,-10.5361,0:.:.:.:1292:.:.:0:35:.:36 1/1:2.1486E-18:14:.:176:0:.:0:0:31:.:0:40:.:.:31:31:17:100%
chr1 935222 . C A 1400.88 PASS AB=0;ABP=0;AC=4;ADP=41;AF=1;AN=4;AO=48;CIGAR=1X;DP=50;DPB=50;DPRA=0;EPP=3.19126;EPPR=5.18177;GTI=0;HET=0;HOM=1;LEN=1;MEANALT=2;MQM=60;MQMR=60;NC=0;NS=1;NUMALT=1;ODDS=67.297;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1597;QR=11;RO=1;RPL=21;RPP=4.6389;RPPR=5.18177;RPR=27;RUN=1;SAF=30;SAP=9.52472;SAR=18;SF=0,1;SRF=1;SRP=5.18177;SRR=0;TYPE=snp;WT=0;MPMANN=line2077|NM_001142467|c.G132T;MPMTOOL=MP2;MPMSCORE=0.065;MPMMECH=Altered_Calmodulin_binding,Loss_of_ADP-ribosylation_at_R44,Gain_of_Loop,Loss_of_Phosphorylation_at_S39;MPMPROB=0.54,0.27,0.27,0.26;MPMPVAL=1.7e-03,7.1e-03,0.03,0.03 GT:ADF:PVAL:RO:GL:GQ:RD:RBQ:SDP:QA:RDR:RDF:ABQ:AD:AO:DP:QR:ADR:FREQ 1/1:.:.:1:-142.83,-13.7405,0:.:.:.:.:1597:.:.:.:.:48:50:11 1/1:26:2.3541E-24:.:.:236:0:0:41:.:0:0:36:41:.:41:.:15:100%
chr1 981876 . T C 0.00 . AB=0;ABP=0;AC=0;AF=0;AN=2;AO=12;CIGAR=1X;DP=54;DPB=54;DPRA=0;EPP=21.1059;EPPR=3.83753;GTI=0;LEN=1;MEANALT=1;MQM=60;MQMR=60;NS=1;NUMALT=1;ODDS=36.9515;PAIRED=1;PAIREDR=0.97619;PAO=0;PQA=0;PQR=0;PRO=0;QA=123;QR=1212;RO=42;RPL=9;RPP=9.52472;RPPR=3.21711;RPR=3;RUN=1;SAF=8;SAP=5.9056;SAR=4;SF=0;SRF=23;SRP=3.83753;SRR=19;TYPE=snp;MPMANN=line2235|NM_198576|c.T3011C;MPMTOOL=MP2;MPMSCORE=0.162;MPMMECH=Gain_of_B-factor;MPMPROB=0.28;MPMPVAL=6.2e-03 GT:GL:RO:QA:QR:DP:AO 0/0:0,-5.08377,-98.1101:42:123:1212:54:12 .
chr1 1007432 . G A 1635.61 PASS AB=0;ABP=0;AC=4;ADP=49;AF=1;AN=4;AO=51;CIGAR=1X;DP=53;DPB=53;DPRA=0;EPP=10.206;EPPR=0;GTI=0;HET=0;HOM=1;LEN=1;MEANALT=3;MQM=60;MQMR=0;NC=0;NS=1;NUMALT=1;ODDS=74.2076;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=1870;QR=0;RO=0;RPL=25;RPP=3.05288;RPPR=0;RPR=26;RUN=1;SAF=17;SAP=15.3153;SAR=34;SF=0,1;SRF=0;SRP=0;SRR=0;TYPE=snp;WT=0;MPMANN=line2332|NM_001205252|c.C515T;MPMTOOL=MP2;MPMSCORE=0.027000000000000003;MPMMECH=Loss_of_B-factor;MPMPROB=0.28;MPMPVAL=0.02 GT:ADR:FREQ:ABQ:DP:AO:AD:QR:SDP:QA:RBQ:RDR:RDF:ADF:RO:PVAL:GL:RD:GQ 1/1:.:.:.:53:51:.:0:.:1870:.:.:.:.:0:.:-168.369,-15.3525,0 1/1:33:100%:37:49:.:49:.:49:.:0:0:0:16:.:3.925E-29:.:0:255
chr1 1269554 . T C 1832.41 PASS AB=0;ABP=0;AC=4;ADP=49;AF=1;AN=4;AO=55;CIGAR=1X;DP=55;DPB=55;DPRA=0;EPP=3.36563;EPPR=0;GTI=0;HET=0;HOM=1;LEN=1;MEANALT=1;MQM=59.7636;MQMR=0;NC=0;NS=1;NUMALT=1;ODDS=79.7527;PAIRED=0.981818;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=2069;QR=0;RO=0;RPL=27;RPP=3.04978;RPPR=0;RPR=28;RUN=1;SAF=26;SAP=3.36563;SAR=29;SF=0,1;SRF=0;SRP=0;SRR=0;TYPE=snp;WT=0;MPMANN=line3025|NM_152228|c.T2269C;MPMTOOL=MP2;MPMSCORE=0.102;MPMMECH=Gain_of_Relative_solvent_accessibility,Altered_PPI_residue,Altered_Cytoplasmic_loop;MPMPROB=0.32,0.31,0.25;MPMPVAL=4.8e-03,0.01,1.5e-03 GT:ADR:FREQ:ABQ:QR:DP:AD:AO:RDR:SDP:QA:RBQ:RDF:PVAL:ADF:RO:RD:GQ:GL 1/1:.:.:.:0:55:.:55:.:.:2069:.:.:.:.:0:.:.:-186.225,-16.5567,0 1/1:26:100%:39:.:49:49:.:0:49:.:0:0:3.925E-29:23:.:0:255
chr1 1551927 . T C 223.13 PASS AB=0.311111;ABP=16.956;AC=2;ADP=40;AF=0.5;AN=4;AO=14;CIGAR=1X;DP=45;DPB=45;DPRA=0;EPP=3.63072;EPPR=4.76149;GTI=0;HET=1;HOM=0;LEN=1;MEANALT=1;MQM=60;MQMR=60;NC=0;NS=1;NUMALT=1;ODDS=51.3783;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=501;QR=1099;RO=31;RPL=0;RPP=33.4109;RPPR=3.64073;RPR=14;RUN=1;SAF=8;SAP=3.63072;SAR=6;SF=0,1;SRF=15;SRP=3.08035;SRR=16;TYPE=snp;WT=0;MPMANN=line3487|NM_001170687|c.T214C;MPMTOOL=MP2;MPMSCORE=0.021;MPMMECH=Loss_of_Strand,Altered_Calmodulin_binding;MPMPROB=0.27,0.24;MPMPVAL=0.02,0.02 GT:GL:GQ:RD:RO:ADF:PVAL:RDF:RBQ:QA:SDP:RDR:AO:AD:DP:QR:ABQ:FREQ:ADR 0/1:-31.8483,0,-85.6042:.:.:31:.:.:.:.:501:.:.:14:.:45:1099 0/1:.:40:28:.:7:9.2733E-5:14:38:.:40:14:.:12:40:.:39:30%:5
chr1 1558792 . T C 1729.40 PASS AB=0;ABP=0;AC=4;ADP=49;AF=1;AN=4;AO=57;CIGAR=1X;DP=58;DPB=58;DPRA=0;EPP=4.877;EPPR=5.18177;GTI=0;HET=0;HOM=1;LEN=1;MEANALT=1;MQM=60;MQMR=60;NC=0;NS=1;NUMALT=1;ODDS=79.3978;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1961;QR=11;RO=1;RPL=30;RPP=3.35316;RPPR=5.18177;RPR=27;RUN=1;SAF=33;SAP=6.09608;SAR=24;SF=0,1;SRF=0;SRP=5.18177;SRR=1;TYPE=snp;WT=0;MPMANN=line3497|NM_080875|c.T305C;MPMTOOL=MP2;MPMSCORE=0.153;MPMMECH=Altered_Calmodulin_binding,Gain_of_Phosphorylation_at_M102,Gain_of_O-linked_glycosylation_at_T101;MPMPROB=0.28,0.26,0.14;MPMPVAL=0.02,0.03,0.03 GT:RDR:SDP:QA:RBQ:RDF:PVAL:ADF:RO:RD:GQ:GL:ADR:FREQ:ABQ:QR:DP:AO:AD 1/1:.:.:1961:.:.:.:.:1:.:.:-175.493,-16.3597,0:.:.:.:11:58:57 1/1:0:49:.:0:0:3.925E-29:30:.:0:255:.:19:100%:39:.:49:.:49
chr1 1568193 . T C,G 0.00 . AB=0.2,0.2;ABP=10.8276,10.8276;AC=1,0;AF=0.5,0;AN=2;AO=2,2;CIGAR=1X,1X;DP=10;DPB=10;DPRA=0,0;EPP=7.35324,7.35324;EPPR=8.80089;GTI=0;LEN=1,1;MEANALT=2,2;MQM=40,40;MQMR=40;NS=1;NUMALT=2;ODDS=8.49105;PAIRED=1,1;PAIREDR=1;PAO=0,0;PQA=0,0;PQR=0;PRO=0;QA=33,14;QR=146;RO=6;RPL=2,0;RPP=7.35324,7.35324;RPPR=8.80089;RPR=0,2;RUN=1,1;SAF=0,0;SAP=7.35324,7.35324;SAR=2,2;SF=0;SRF=0;SRP=16.0391;SRR=6;TYPE=snp,snp;MPMANN=line3521|NM_006983|c.T188G;MPMTOOL=MP2;MPMSCORE=0.24600000000000002;MPMMECH=Altered_Stability,Gain_of_Intrinsic_disorder,Loss_of_O-linked_glycosylation_at_T66,Altered_Cytoplasmic_loop;MPMPROB=0.44,0.38,0.21,0.11;MPMPVAL=2.4e-03,0.01,0.02,0.04 GT:RO:GL:QA:AO:DP:QR 0/1:6:-0.602526,0,-10.2983,-1.79841,-10.2835,-12.0257:33,14:2,2:10:146 .
chr1 1568201 . A G 0.00 . AB=0;ABP=0;AC=0;AF=0;AN=2;AO=2;CIGAR=1X;DP=10;DPB=10;DPRA=0;EPP=3.0103;EPPR=7.35324;GTI=0;LEN=1;MEANALT=1;MQM=40;MQMR=40;NS=1;NUMALT=1;ODDS=12.3995;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=18;QR=149;RO=8;RPL=1;RPP=3.0103;RPPR=7.35324;RPR=1;RUN=1;SAF=0;SAP=7.35324;SAR=2;SF=0;SRF=0;SRP=20.3821;SRR=8;TYPE=snp;MPMANN=line3522|NM_006983|c.A196G;MPMTOOL=MP2;MPMSCORE=0.239;MPMMECH=Altered_MoRF,Loss_of_O-linked_glycosylation_at_T66,Altered_Cytoplasmic_loop;MPMPROB=0.27,0.27,0.11;MPMPVAL=0.05,0.01,0.04 GT:QA:GL:RO:QR:DP:AO 0/0:18:0,-1.30094,-11.1266:8:149:10:2 .
chr1 1569604 . A C 0.00 . AB=0;ABP=0;AC=0;AF=0;AN=2;AO=2;CIGAR=1X;DP=9;DPB=9;DPRA=0;EPP=7.35324;EPPR=4.45795;GTI=0;LEN=1;MEANALT=2;MQM=33;MQMR=35;NS=1;NUMALT=1;ODDS=11.7458;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=18;QR=186;RO=6;RPL=0;RPP=7.35324;RPPR=4.45795;RPR=2;RUN=1;SAF=2;SAP=7.35324;SAR=0;SF=0;SRF=6;SRP=16.0391;SRR=0;TYPE=snp;MPMANN=line3525|NM_006983|c.A895C;MPMTOOL=MP2;MPMSCORE=0.244;MPMMECH=Loss_of_O-linked_glycosylation_at_T299,Gain_of_Intrinsic_disorder,Gain_of_B-factor,Gain_of_Loop;MPMPROB=0.57,0.34,0.28,0.27;MPMPVAL=2.6e-03,0.02,8.5e-03,0.03 GT:AO:DP:QR:RO:GL:QA 0/0:2:9:186:6:0,-0.811002,-12.2719:18 .
chr1 1577084 . TTCCTCCTCCTCCTCCT TTCCTCCT 110.22 PASS AB=0.692308;ABP=7.18621;AC=2;ADP=51;AF=0.5;AN=4;AO=9;CIGAR=1M9D7M;DP=13;DPB=11.5294;DPRA=0;EPP=9.04217;EPPR=5.18177;GTI=0;HET=1;HOM=0;LEN=9;MEANALT=1;MQM=32.7778;MQMR=30.25;NC=0;NS=1;NUMALT=1;ODDS=10.6203;PAIRED=1;PAIREDR=1;PAO=2;PQA=73;PQR=150;PRO=4;QA=273;QR=166;RO=4;RPL=5;RPP=3.25157;RPPR=3.0103;RPR=4;RUN=1;SAF=5;SAP=3.25157;SAR=4;SF=0,1;SRF=3;SRP=5.18177;SRR=1;TYPE=del;WT=0;MPMANN=line3545|NM_001787|c.965_973del|protein-altering;MPMTOOL=MPI;MPMSCORE=0.18555;MPMMECH=Signal_cleavage,Iron_binding,Zinc_binding,C-terminal_signal,Carboxylation;MPMPROB=.,.,.,.,.;MPMPVAL=0.00098707,0.0021935,0.0022571,0.0069095,0.0069095 GT:ADR:FREQ:ABQ:QR:DP:AD:AO:RDR:SDP:QA:RBQ:RDF:PVAL:ADF:RO:RD:GQ:GL 0/1:.:.:.:166:13:.:9:.:.:273:.:.:.:.:4:.:.:-15.9751,0,-8.8244 0/1:6:39.22%:23:.:51:20:.:13:51:.:38:18:9.3266E-8:14:.:31:70
chr1 1640294 . TTCCTCCTCC T . PASS AC=1;ADP=25;AN=2;HET=1;HOM=0;NC=0;SF=1;WT=0;MPMANN=line3758|NM_033529|c.903_911del|protein-altering;MPMTOOL=MPI;MPMSCORE=0.099516;MPMMECH=Iron_binding,C-terminal_signal,Carboxylation,Cobalt_binding,Coiled_coil;MPMPROB=.,.,.,.,.;MPMPVAL=0.0063611,0.0069095,0.0069095,0.010748,0.011703 GT:RD:GQ:ADF:PVAL:RDF:RDR:SDP:RBQ:DP:AD:ABQ:FREQ:ADR . 0/1:14:35:6:2.9985E-4:9:5:25:34:25:10:22:40%:4
chr1 1647893 . CTTTCTTT CTTTCTTTTTCTTT 928.93 PASS AB=0.48;ABP=3.27088;AC=2;ADP=54;AF=0.5;AN=4;AO=36;CIGAR=1M6I7M;DP=75;DPB=103.375;DPRA=0;EPP=3.9754;EPPR=3.9754;GTI=0;HET=1;HOM=0;LEN=6;MEANALT=4;MQM=60;MQMR=60;NC=0;NS=1;NUMALT=1;ODDS=206.657;PAIRED=0.416667;PAIREDR=0.944444;PAO=1.5;PQA=48.5;PQR=48.5;PRO=1.5;QA=1356;QR=1316;RO=36;RPL=14;RPP=6.8707;RPPR=3.25157;RPR=22;RUN=1;SAF=16;SAP=3.9754;SAR=20;SF=0,1;SRF=17;SRP=3.25157;SRR=19;TYPE=ins;WT=0;MPMANN=line3813|NM_033529|c.342_343insAAAGAA|protein-altering;MPMTOOL=MPI;MPMSCORE=0.14042000000000002;MPMMECH=Carboxylation,Calmodulin_binding,Coiled_coil,Cobalt_binding,Intracellular_loop;MPMPROB=.,.,.,.,.;MPMPVAL=0.0069095,0.012008,0.01681,0.018974,0.026062 GT:PVAL:ADF:RO:RD:GQ:GL:RDR:SDP:QA:RBQ:RDF:ABQ:QR:DP:AO:AD:ADR:FREQ 0/1:.:.:36:.:.:-98.6487,0,-95.0796:.:.:1356:.:.:.:1316:75:36 0/1:9.6403E-6:9:.:38:50:.:21:54:.:37:17:20:.:54:.:15:6:27.78%
chr1 1650797 . ATTTT GTTTC 1083.79 . AB=0.401961;ABP=11.5259;AC=1;AF=0.5;AN=2;AO=41;CIGAR=1X3M1X;DP=102;DPB=102.4;DPRA=0;EPP=4.33437;EPPR=7.46366;GTI=0;LEN=5;MEANALT=3;MQM=60;MQMR=60;NS=1;NUMALT=1;ODDS=249.552;PAIRED=0.268293;PAIREDR=1;PAO=0;PQA=0;PQR=42;PRO=1;QA=1617;QR=2348;RO=59;RPL=20;RPP=3.06326;RPPR=4.81373;RPR=21;RUN=1;SAF=15;SAP=9.41879;SAR=26;SF=0;SRF=37;SRP=11.2913;SRR=22;TYPE=complex;MPMANN=line3916|NM_033529|c.321_325GAAAC|protein-altering;MPMTOOL=MPI;MPMSCORE=0.16094;MPMMECH=Acetylation,Calmodulin_binding,Coiled_coil,Cobalt_binding,Intracellular_loop;MPMPROB=.,.,.,.,.;MPMPVAL=0.00065263,0.0099901,0.014576,0.018974,0.0204 GT:QA:GL:RO:QR:DP:AO 0/1:1617:-115.19,0,-184.693:59:2348:102:41 .
chr1 3669201 . ATCTC GTCTG,GTCTC 1748.36 PASS AB=0;ABP=0;AC=2,2;ADP=47;AF=1;AN=4;AO=46;CIGAR=1X3M1X;DP=46;DPB=49.2;DPRA=0;EPP=12.2627;EPPR=0;GTI=0;HET=0;HOM=1;LEN=5;MEANALT=1;MQM=60;MQMR=0;NC=0;NS=1;NUMALT=1;ODDS=71.435;PAIRED=1;PAIREDR=0;PAO=5;PQA=190;PQR=0;PRO=1;QA=1794;QR=0;RO=0;RPL=24;RPP=3.19912;RPPR=0;RPR=22;RUN=1;SAF=26;SAP=4.70971;SAR=20;SF=0,1;SRF=0;SRP=0;SRR=0;TYPE=complex;WT=0;MPMANN=line10142|NM_152492|c.156_160GTCTG|protein-altering;MPMTOOL=MPI;MPMSCORE=0.27241;MPMMECH=.;MPMPROB=.;MPMPVAL=. GT:DP:AD:AO:QR:ABQ:FREQ:ADR:GL:RD:GQ:PVAL:ADF:RO:RDF:QA:SDP:RBQ:RDR 1/1:46:.:46,.:0:.:.:.:-178.736,-15.6536,0,.,.,.:.:.:.:.:0:.:1794,. 2/2:47:47:.:.:40:100%:21:.:0:255:6.1512E-28:26:.:0:.:47:0:0
chr1 9304978 . CCCCAGGCACCCAGGCAT CCCCAGGCAT 273.68 PASS AB=0.441176;ABP=4.03217;AC=2;ADP=38;AF=0.5;AN=4;AO=15;CIGAR=1M8D9M;DP=34;DPB=29.1111;DPRA=0;EPP=14.7363;EPPR=4.9405;GTI=0;HET=1;HOM=0;LEN=8;MEANALT=2;MQM=60;MQMR=60;NC=0;NS=1;NUMALT=1;ODDS=63.016;PAIRED=1;PAIREDR=1;PAO=1.5;PQA=44;PQR=117;PRO=3.5;QA=514;QR=693;RO=18;RPL=11;RPP=10.1038;RPPR=4.9405;RPR=4;RUN=1;SAF=10;SAP=6.62942;SAR=5;SF=0,1;SRF=12;SRP=7.35324;SRR=6;TYPE=del;WT=0;MPMANN=line22931|NM_001282587|c.24_26del|protein-altering;MPMTOOL=MPI;MPMSCORE=0.21063;MPMMECH=PPI_hotspot,Signal_helix,Intracellular_loop,C-terminal_signal,Helix;MPMPROB=.,.,.,.,.;MPMPVAL=0.011424,0.014587,0.015813,0.021386,0.030544 GT:FREQ:ADR:DP:AD:AO:QR:ABQ:RDF:SDP:QA:RBQ:RDR:GL:RD:GQ:PVAL:ADF:RO 0/1:.:.:34:.:15:693:.:.:.:514:.:.:-34.0842,0,-56.791:.:.:.:.:18 0/1:39.47%:5:38:15:.:.:21:14:38:.:39:9:.:23:52:5.4463E-6:10
chr1 12854090 . T A 125.99 PASS AB=0.22973;ABP=49.9611;AC=2;ADP=73;AF=0.5;AN=4;AO=17;CIGAR=1X;DP=74;DPB=74;DPRA=0;EPP=13.3567;EPPR=3.16541;GTI=0;HET=1;HOM=0;LEN=1;MEANALT=2;MQM=38.5294;MQMR=47.2857;NC=0;NS=1;NUMALT=1;ODDS=29.0094;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=622;QR=2129;RO=56;RPL=13;RPP=13.3567;RPPR=6.88793;RPR=4;RUN=1;SAF=9;SAP=3.13803;SAR=8;SF=0,1;SRF=32;SRP=5.49198;SRR=24;TYPE=snp;WT=0;MPMANN=line28532|NM_023013|c.T314A|immediate-stopgain;MPMTOOL=MPL;MPMSCORE=.;MPMMECH= Palmitoylation;MPMPROB=.;MPMPVAL=0.0306 GT:RDF:RDR:RBQ:QA:SDP:GQ:RD:GL:ADF:PVAL:RO:FREQ:ADR:QR:AO:AD:DP:ABQ 0/1:.:.:.:622:.:.:.:-24.0629,0,-154.921:.:.:56:.:.:2129:17:.:74 0/1:33:24:39:.:73:48:57:.:9:1.3542E-5:.:20.55%:6:.:.:15:73:40
chr1 12907282 . GGTG CGCC,CGTG 747.88 PASS AB=0.56;ABP=5.35549;AC=1,1;ADP=69;AF=0.5;AN=4;AO=42;CIGAR=1X1M2X;DP=75;DPB=76.5;DPRA=0;EPP=3.0103;EPPR=3.0761;GTI=0;HET=1;HOM=0;LEN=4;MEANALT=1;MQM=29.6667;MQMR=55.3939;NC=0;NS=1;NUMALT=1;ODDS=172.206;PAIRED=0.857143;PAIREDR=1;PAO=2;PQA=77;PQR=32;PRO=1;QA=1703;QR=1300;RO=33;RPL=19;RPP=3.83753;RPPR=8.34028;RPR=23;RUN=1;SAF=34;SAP=37.9607;SAR=8;SF=0,1;SRF=14;SRP=4.65535;SRR=19;TYPE=complex;WT=0;MPMANN=line28979|NM_001013631|c.858_861GGCG|protein-altering;MPMTOOL=MPI;MPMSCORE=0.21785;MPMMECH=.;MPMPROB=.;MPMPVAL=. GT:ADR:FREQ:ABQ:QR:AO:AD:DP:RDR:RBQ:SDP:QA:RDF:RO:ADF:PVAL:GQ:RD:GL 0/1:.:.:.:1300:42,.:.:75:.:.:.:1703,.:.:33:.:.:.:.:-84.0567,0,-95.0541,.,.,. 0/2:5:52.17%:41:.:.:36:69:20:38:69:.:13:.:31:2.7389E-14:135:33
chr1 12907350 . CA TA,TG 386.64 PASS AB=0.460674;ABP=4.20583;AC=1,1;ADP=81;AF=0.5;AN=4;AO=41;CIGAR=2X;DP=89;DPB=89;DPRA=0;EPP=14.9269;EPPR=3.0565;GTI=0;HET=1;HOM=0;LEN=2;MEANALT=2;MQM=25.8049;MQMR=60;NC=0;NS=1;NUMALT=1;ODDS=89.0268;PAIRED=0.878049;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1337;QR=1745;RO=47;RPL=23;RPP=4.33437;RPPR=10.8184;RPR=18;RUN=1;SAF=26;SAP=9.41879;SAR=15;SF=0,1;SRF=24;SRP=3.0565;SRR=23;TYPE=mnp;WT=0;MPMANN=line28985|NM_001013631|c.792_793CA|protein-altering;MPMTOOL=MPI;MPMSCORE=0.22161;MPMMECH=.;MPMPROB=.;MPMPVAL=. GT:RO:ADF:PVAL:RD:GQ:GL:RDR:SDP:QA:RBQ:RDF:ABQ:QR:DP:AO:AD:ADR:FREQ 0/2:47:.:.:.:.:-46.0189,.,.,0,.,-130.736:.:.:.,1337:.:.:.:1745:89:.,41 0/1:.:22:2.581E-13:46:125:.:22:81:.:40:24:38:.:81:.:35:13:43.21%
chr1 12907379 . TC CA,CC 352.88 PASS AB=0.431818;ABP=6.56362;AC=1,1;ADP=81;AF=0.5;AN=4;AO=38;CIGAR=2X;DP=88;DPB=88.5;DPRA=0;EPP=17.6392;EPPR=4.57376;GTI=0;HET=1;HOM=0;LEN=2;MEANALT=1;MQM=23;MQMR=57.9;NC=0;NS=1;NUMALT=1;ODDS=81.2545;PAIRED=0.921053;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=1;QA=1308;QR=1925;RO=50;RPL=26;RPP=14.2105;RPPR=3.70517;RPR=12;RUN=1;SAF=21;SAP=3.9246;SAR=17;SF=0,1;SRF=29;SRP=5.78978;SRR=21;TYPE=mnp;WT=0;MPMANN=line28988|NM_001013631|c.763_764TG|protein-altering;MPMTOOL=MPI;MPMSCORE=0.21523;MPMMECH=.;MPMPROB=.;MPMPVAL=. GT:RDF:RDR:RBQ:SDP:QA:GQ:RD:GL:ADF:PVAL:RO:FREQ:ADR:QR:AO:AD:DP:ABQ 0/1:.:.:.:.:1308,.:.:.:-43.5805,0,-145.975,.,.,.:.:.:50:.:.:1925:38,.:.:88 0/2:26:19:40:81:.:130:45:.:18:9.3487E-14:.:44.44%:18:.:.:36:81:40
chr1 12907446 . CATCT TATCT,TATCC 589.88 PASS AB=0.480519;ABP=3.26411;AC=1,1;ADP=83;AF=0.5;AN=4;AO=37;CIGAR=1X3M1X;DP=77;DPB=79.2;DPRA=0;EPP=3.06899;EPPR=3.22745;GTI=0;HET=1;HOM=0;LEN=5;MEANALT=1;MQM=28.5135;MQMR=49.6;NC=0;NS=1;NUMALT=1;ODDS=135.824;PAIRED=1;PAIREDR=1;PAO=2;PQA=43;PQR=103;PRO=3;QA=1447;QR=1567;RO=40;RPL=13;RPP=10.1116;RPPR=3.87889;RPR=24;RUN=1;SAF=13;SAP=10.1116;SAR=24;SF=0,1;SRF=25;SRP=8.43898;SRR=15;TYPE=complex;WT=0;MPMANN=line28996|NM_001013631|c.693_697GGATA|protein-altering;MPMTOOL=MPI;MPMSCORE=0.20731;MPMMECH=.;MPMPROB=.;MPMPVAL=. GT:QR:DP:AO:AD:ABQ:FREQ:ADR:RD:GQ:GL:ADF:PVAL:RO:RDF:RDR:SDP:QA:RBQ 0/2:1567:77:.,37:.:.:.:.:.:.:-65.6418,.,.,0,.,-121.647:.:.:40:.:.:.:.,1447 0/1:.:83:.:40:39:48.19%:27:43:147:.:13:1.7206E-15:.:26:17:83:.:38
chr1 12907457 . AT GT,GA 438.28 PASS AB=0.373494;ABP=14.5479;AC=1,1;ADP=82;AF=0.5;AN=4;AO=31;CIGAR=2X;DP=83;DPB=83;DPRA=0;EPP=4.76149;EPPR=3.3935;GTI=0;HET=1;HOM=0;LEN=2;MEANALT=2;MQM=29.1613;MQMR=47.1373;NC=0;NS=1;NUMALT=1;ODDS=100.917;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1257;QR=1919;RO=51;RPL=10;RPP=11.486;RPPR=3.3935;RPR=21;RUN=1;SAF=10;SAP=11.486;SAR=21;SF=0,1;SRF=31;SRP=8.16222;SRR=20;TYPE=mnp;WT=0;MPMANN=line28999|NM_001013631|c.685_686TC|protein-altering;MPMTOOL=MPI;MPMSCORE=0.20718000000000003;MPMMECH=.;MPMPROB=.;MPMPVAL=. GT:RDF:RDR:RBQ:QA:SDP:GQ:RD:GL:ADF:PVAL:RO:FREQ:ADR:QR:AD:AO:DP:ABQ 0/2:.:.:.:.,1257:.:.:.:-51.8512,.,.,0,.,-141.155:.:.:51:.:.:1919:.:.,31:83 0/1:30:18:39:.:82:121:48:.:11:7.5332E-13:.:41.46%:23:.:34:.:82:41
chr1 12907465 . ACTGC GCTGC,GCTGG 502.93 PASS AB=0.3875;ABP=11.8048;AC=1,1;ADP=82;AF=0.5;AN=4;AO=31;CIGAR=1X3M1X;DP=80;DPB=82.2;DPRA=0;EPP=3.08035;EPPR=3.40914;GTI=0;HET=1;HOM=0;LEN=5;MEANALT=1;MQM=29.9677;MQMR=46.2041;NC=0;NS=1;NUMALT=1;ODDS=115.804;PAIRED=1;PAIREDR=1;PAO=2;PQA=52;PQR=33;PRO=1;QA=1245;QR=1933;RO=49;RPL=13;RPP=4.76149;RPPR=3.05462;RPR=18;RUN=1;SAF=10;SAP=11.486;SAR=21;SF=0,1;SRF=31;SRP=10.4997;SRR=18;TYPE=complex;WT=0;MPMANN=line29002|NM_001013631|c.674_678CCAGC|protein-altering;MPMTOOL=MPI;MPMSCORE=0.20127;MPMMECH=.;MPMPROB=.;MPMPVAL=. GT:RO:ADF:PVAL:GQ:RD:GL:RDR:RBQ:SDP:QA:RDF:ABQ:QR:AD:AO:DP:ADR:FREQ 0/2:49:.:.:.:.:-57.2994,.,.,0,.,-143.389:.:.:.:.,1245:.:.:1933:.:.,31:80 0/1:.:11:2.014E-12:116:49:.:18:39:82:.:31:41:.:33:.:82:22:40.24%
chr1 12907507 . CT TC,TT 577.98 PASS AB=0.408602;ABP=9.75821;AC=1,1;ADP=93;AF=0.5;AN=4;AO=38;CIGAR=2X;DP=93;DPB=93;DPRA=0;EPP=3.9246;EPPR=3.04978;GTI=0;HET=1;HOM=0;LEN=2;MEANALT=1;MQM=30.7368;MQMR=44.0182;NC=0;NS=1;NUMALT=1;ODDS=133.085;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1442;QR=2121;RO=55;RPL=24;RPP=8.7247;RPPR=11.8936;RPR=14;RUN=1;SAF=11;SAP=17.6392;SAR=27;SF=0,1;SRF=32;SRP=6.20829;SRR=23;TYPE=mnp;WT=0;MPMANN=line29008|NM_001013631|c.635_636GA|protein-altering;MPMTOOL=MPI;MPMSCORE=0.21445;MPMMECH=.;MPMPROB=.;MPMPVAL=. GT:RDF:RBQ:SDP:QA:RDR:GL:GQ:RD:PVAL:ADF:RO:FREQ:ADR:AD:AO:DP:QR:ABQ 0/1:.:.:.:1442,.:.:-65.8681,0,-153.465,.,.,.:.:.:.:.:55:.:.:.:38,.:93:2121 0/2:31:39:93:.:23:.:139:54:1.1288E-14:12:.:41.94%:27:39:.:93:.:39
chr1 12907518 . TC AC,AA 497.72 PASS AB=0.361702;ABP=18.6264;AC=1,1;ADP=92;AF=0.5;AN=4;AO=34;CIGAR=2X;DP=94;DPB=94.5;DPRA=0;EPP=4.03217;EPPR=3.16006;GTI=0;HET=1;HOM=0;LEN=2;MEANALT=3;MQM=31.3529;MQMR=44.5345;NC=0;NS=1;NUMALT=1;ODDS=114.605;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=11;PRO=1;QA=1297;QR=2264;RO=58;RPL=23;RPP=12.2071;RPPR=17.986;RPR=11;RUN=1;SAF=10;SAP=15.5282;SAR=24;SF=0,1;SRF=35;SRP=8.40154;SRR=23;TYPE=mnp;WT=0;MPMANN=line29013|NM_001013631|c.624_625TT|protein-altering;MPMTOOL=MPI;MPMSCORE=0.21829;MPMMECH=.;MPMPROB=.;MPMPVAL=. GT:ABQ:QR:AO:AD:DP:ADR:FREQ:RO:ADF:PVAL:GQ:RD:GL:RDR:RBQ:QA:SDP:RDF 0/2:.:2264:.,34:.:94:.:.:58:.:.:.:.:-58.5988,.,.,0,.,-167.051:.:.:.,1297 0/1:38:.:.:35:92:24:38.04%:.:11:5.2461E-13:122:57:.:23:39:.:93:34
chr1 12907777 . TCCAT CCCAC,CCCAT 379.89 PASS AB=0.370968;ABP=11.9764;AC=1,1;ADP=59;AF=0.5;AN=4;AO=23;CIGAR=1X3M1X;DP=62;DPB=63.2;DPRA=0;EPP=3.10471;EPPR=3.25157;GTI=0;HET=1;HOM=0;LEN=5;MEANALT=3;MQM=33.9565;MQMR=58.6389;NC=0;NS=1;NUMALT=1;ODDS=87.4735;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=63;PRO=2;QA=913;QR=1343;RO=36;RPL=3;RPP=30.2953;RPPR=18.4519;RPR=20;RUN=1;SAF=15;SAP=7.63648;SAR=8;SF=0,1;SRF=15;SRP=5.18177;SRR=21;TYPE=complex;WT=0;MPMANN=line29017|NM_001013631|c.362_366GTGGG|protein-altering;MPMTOOL=MPI;MPMSCORE=0.23168000000000002;MPMMECH=.;MPMPROB=.;MPMPVAL=. GT:AO:AD:DP:QR:ABQ:FREQ:ADR:GL:GQ:RD:PVAL:ADF:RO:RDF:RBQ:SDP:QA:RDR 0/1:23,.:.:62:1343:.:.:.:-46.8153,0,-108.043,.,.,.:.:.:.:.:36:.:.:.:913,. 0/2:.:24:59:.:40:40.68%:9:.:85:35:3.1153E-9:15:.:12:39:59:.:23
chr1 12907798 . AAAGCC CAAGCC,CAAGTT 742.72 PASS AB=0.472222;ABP=3.49285;AC=1,1;ADP=74;AF=0.5;AN=4;AO=34;CIGAR=1X3M2X;DP=72;DPB=73.5;DPRA=0;EPP=7.09778;EPPR=6.05036;GTI=0;HET=1;HOM=0;LEN=6;MEANALT=4;MQM=39.6765;MQMR=57.5143;NC=0;NS=1;NUMALT=1;ODDS=171.017;PAIRED=1;PAIREDR=1;PAO=2;PQA=69;PQR=97;PRO=3;QA=1285;QR=1388;RO=35;RPL=11;RPP=12.2071;RPPR=3.56868;RPR=23;RUN=1;SAF=20;SAP=5.30951;SAR=14;SF=0,1;SRF=15;SRP=4.56135;SRR=20;TYPE=complex;WT=0;MPMANN=line29021|NM_001013631|c.340_345AACTTG|protein-altering;MPMTOOL=MPI;MPMSCORE=0.2339;MPMMECH=.;MPMPROB=.;MPMPVAL=. GT:GL:RD:GQ:PVAL:ADF:RO:RDF:SDP:QA:RBQ:RDR:DP:AD:AO:QR:ABQ:FREQ:ADR 0/2:-80.9542,.,.,0,.,-111.132:.:.:.:.:35:.:.:.,1285:.:.:72:.:.,34:1388 0/1:.:39:128:1.4154E-13:20:.:16:74:.:38:23:74:35:.:.:41:47.3%:15
chr1 13183109 . TC CC,CA 204.98 PASS AB=0.338235;ABP=18.4661;AC=1,1;ADP=67;AF=0.5;AN=4;AO=23;CIGAR=2X;DP=68;DPB=68;DPRA=0;EPP=5.3706;EPPR=5.37479;GTI=0;HET=1;HOM=0;LEN=2;MEANALT=1;MQM=29.6522;MQMR=57.9111;NC=0;NS=1;NUMALT=1;ODDS=47.1981;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=831;QR=1824;RO=45;RPL=0;RPP=52.9542;RPPR=4.21667;RPR=23;RUN=1;SAF=14;SAP=5.3706;SAR=9;SF=0,1;SRF=30;SRP=13.8677;SRR=15;TYPE=mnp;WT=0;MPMANN=line30723|NM_001136561|c.763_764TG|protein-altering;MPMTOOL=MPI;MPMSCORE=0.14407;MPMMECH=Loop,Cobalt_binding,Intracellular_loop,B_factor,Proteolytic_cleavage;MPMPROB=.,.,.,.,.;MPMPVAL=0.027011,0.030818,0.032894,0.032918,0.040202 GT:ABQ:DP:AD:AO:QR:ADR:FREQ:ADF:RO:PVAL:GL:RD:GQ:SDP:QA:RBQ:RDR:RDF 0/2:.:68:.:.,23:1824:.:.:.:45:.:-33.5331,.,.,0,.,-143.267:.:.:.:.,831 0/1:40:67:22:.:.:8:32.84%:14:.:3.0207E-8:.:45:75:67:.:41:15:30
chr1 13183176 . CATCT TATCC,TATCT 788.88 PASS AB=0.446809;ABP=5.32038;AC=1,1;ADP=93;AF=0.5;AN=4;AO=42;CIGAR=1X3M1X;DP=94;DPB=94.4;DPRA=0;EPP=3.83753;EPPR=19.0083;GTI=0;HET=1;HOM=0;LEN=5;MEANALT=4;MQM=32.9762;MQMR=48.6327;NC=0;NS=1;NUMALT=1;ODDS=181.645;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=32;PRO=1;QA=1629;QR=1899;RO=49;RPL=25;RPP=6.31921;RPPR=3.40914;RPR=17;RUN=1;SAF=28;SAP=13.1438;SAR=14;SF=0,1;SRF=26;SRP=3.40914;SRR=23;TYPE=complex;WT=0;MPMANN=line30731|NM_001136561|c.693_697GGATA|protein-altering;MPMTOOL=MPI;MPMSCORE=0.14037;MPMMECH=Intracellular_loop,Cobalt_binding,Proteolytic_cleavage,VSL2B_disorder,Loop;MPMPROB=.,.,.,.,.;MPMPVAL=0.0204,0.030818,0.040202,0.0436,0.043959 GT:RDF:RDR:SDP:QA:RBQ:RD:GQ:GL:ADF:RO:PVAL:FREQ:ADR:QR:DP:AO:AD:ABQ 0/1:.:.:.:1629,.:.:.:.:-85.7555,0,-138.897,.,.,.:.:49:.:.:.:1899:94:42,. 0/2:27:23:93:.:39:50:157:.:27:.:1.9118E-16:46.24%:16:.:93:.:43:39
chr1 13448198 . TC CC,CT,TT 71.39 PASS AB=0.625,0.375;ABP=4.09604,4.09604;AC=1,1,1;ADP=29;AF=0.5,0.5;AN=4;AO=5,3;CIGAR=2X,1M1X;DP=8;DPB=8;DPRA=0,0;EPP=13.8677,9.52472;EPPR=0;GTI=0;HET=1;HOM=0;LEN=2,1;MEANALT=2,2;MQM=20.8,27;MQMR=0;NC=0;NS=1;NUMALT=2;ODDS=0.510656;PAIRED=1,1;PAIREDR=0;PAO=0,0;PQA=0,0;PQR=0;PRO=0;QA=200,126;QR=0;RO=0;RPL=3,0;RPP=3.44459,9.52472;RPPR=0;RPR=2,3;RUN=1,1;SAF=3,3;SAP=3.44459,9.52472;SAR=2,0;SF=0,1;SRF=0;SRP=0;SRR=0;TYPE=mnp,snp;WT=0;MPMANN=line31871|NM_001024661|c.1276delG|protein-altering;MPMTOOL=MPL;MPMSCORE=.;MPMMECH=.;MPMPROB=.;MPMPVAL=. GT:RDF:SDP:QA:RBQ:RDR:GL:RD:GQ:RO:ADF:PVAL:FREQ:ADR:DP:AO:AD:QR:ABQ 2/3:.:.:.,200,126:.:.:-14.3409,.,.,-6.61913,.,-5.11398,-7.96688,.,0,-7.06379:.:.:0:.:.:.:.:8:.,5,3:.:0 0/1:8:29:.:40:15:.:23:19:.:4:1.1736E-2:20.69%:2:29:.:6:.:41
chr1 13670656 . G A . PASS AC=1;ADP=40;AN=2;HET=1;HOM=0;NC=0;SF=1;WT=0;MPMANN=line32777|NM_001291380|c.C625T|immediate-stopgain;MPMTOOL=MPL;MPMSCORE=.;MPMMECH=.;MPMPROB=.;MPMPVAL=. GT:FREQ:ADR:AD:DP:ABQ:RDF:RBQ:SDP:RDR:GQ:RD:PVAL:ADF . 0/1:22.5%:9:9:40:40:7:39:40:17:29:24:1.042E-3:0
chr1 16865770 . CTT CT 876.42 PASS AB=0;ABP=0;AC=4;ADP=48;AF=1;AN=4;AO=43;CIGAR=1M1D1M;DP=48;DPB=34.3333;DPRA=0;EPP=4.27278;EPPR=5.18177;GTI=0;HET=0;HOM=1;LEN=1;MEANALT=2;MQM=32.2093;MQMR=39.75;NC=0;NS=1;NUMALT=1;ODDS=35.6486;PAIRED=1;PAIREDR=1;PAO=0.5;PQA=10.5;PQR=10.5;PRO=0.5;QA=1451;QR=137;RO=4;RPL=30;RPP=17.6046;RPPR=11.6962;RPR=13;RUN=1;SAF=14;SAP=14.3727;SAR=29;SF=0,1;SRF=3;SRP=5.18177;SRR=1;TYPE=del;WT=0;MPMANN=line39997|NM_001310155|c.212delT|protein-altering;MPMTOOL=MPL;MPMSCORE=.;MPMMECH=.;MPMPROB=.;MPMPVAL=. GT:DP:AD:AO:QR:ABQ:FREQ:ADR:GL:RD:GQ:RO:ADF:PVAL:RDF:QA:SDP:RBQ:RDR 1/1:48:.:43:137:.:.:.:-90.7056,-2.65378,0:.:.:4:.:.:.:1451 1/1:48:43:.:.:38:89.58%:29:.:5:213:.:14:4.4594E-22:4:.:48:37:1
chr1 17086085 . GCC GCCC 78.23 PASS AB=0.521739;ABP=3.19912;AC=2;ADP=49;AF=0.5;AN=4;AO=24;CIGAR=1M1I2M;DP=46;DPB=55.6667;DPRA=0;EPP=8.80089;EPPR=3.94093;GTI=0;HET=1;HOM=0;LEN=1;MEANALT=2;MQM=17.0833;MQMR=45.5714;NC=0;NS=1;NUMALT=1;ODDS=18.0138;PAIRED=1;PAIREDR=1;PAO=1.5;PQA=32;PQR=32;PRO=1.5;QA=393;QR=770;RO=21;RPL=6;RPP=16.0391;RPPR=3.94093;RPR=18;RUN=1;SAF=10;SAP=4.45795;SAR=14;SF=0,1;SRF=7;SRP=8.07707;SRR=14;TYPE=ins;WT=0;MPMANN=line41948|NM_001271733|c.810dupG|protein-altering;MPMTOOL=MPL;MPMSCORE=.;MPMMECH=.;MPMPROB=.;MPMPVAL=. GT:ADF:RO:PVAL:GL:RD:GQ:QA:SDP:RBQ:RDR:RDF:ABQ:DP:AD:AO:QR:ADR:FREQ 0/1:.:21:.:-14.7018,0,-48.7498:.:.:393:.:.:.:.:.:46:.:24:770 0/1:10:.:4.8824E-11:.:22:103:.:49:38:15:7:39:49:27:.:.:17:55.1%
chr1 17086439 . C T 165.19 PASS AB=0.288889;ABP=37.8504;AC=2;ADP=104;AF=0.5;AN=4;AO=26;CIGAR=1X;DP=90;DPB=90;DPRA=0;EPP=3.34437;EPPR=5.80219;GTI=0;HET=1;HOM=0;LEN=1;MEANALT=2;MQM=23.8462;MQMR=29.6984;NC=0;NS=1;NUMALT=1;ODDS=38.0356;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=991;QR=2531;RO=63;RPL=10;RPP=6.01695;RPPR=15.4532;RPR=16;RUN=1;SAF=12;SAP=3.34437;SAR=14;SF=0,1;SRF=36;SRP=5.80219;SRR=27;TYPE=snp;WT=0;MPMANN=line41950|NM_001271733|c.G660A|immediate-stopgain;MPMTOOL=MPL;MPMSCORE=.;MPMMECH=.;MPMPROB=.;MPMPVAL=. GT:ADR:FREQ:ABQ:AD:AO:DP:QR:RBQ:QA:SDP:RDR:RDF:ADF:PVAL:RO:GL:GQ:RD 0/1:.:.:.:.:26:90:2531:.:991:.:.:.:.:.:63:-25.3037,0,-134.991 0/1:15:28.85%:38:30:.:104:.:40:.:104:32:42:15:8.0515E-11:.:.:100:74
chr1 17718671 . AGG AG 1228.53 PASS AB=0;ABP=0;AC=4;ADP=36;AF=1;AN=4;AO=37;CIGAR=1M1D1M;DP=37;DPB=24.6667;DPRA=0;EPP=7.76406;EPPR=0;GTI=0;HET=0;HOM=1;LEN=1;MEANALT=1;MQM=60;MQMR=0;NC=0;NS=1;NUMALT=1;ODDS=54.7994;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=1418;QR=0;RO=0;RPL=21;RPP=4.47751;RPPR=0;RPR=16;RUN=1;SAF=27;SAP=19.9713;SAR=10;SF=0,1;SRF=0;SRP=0;SRR=0;TYPE=del;WT=0;MPMANN=line44550|NM_207421|c.1026delG|protein-altering;MPMTOOL=MPL;MPMSCORE=0.25311;MPMMECH=.;MPMPROB=.;MPMPVAL=. GT:PVAL:ADF:RO:RD:GQ:GL:RDR:SDP:QA:RBQ:RDF:ABQ:QR:DP:AD:AO:ADR:FREQ 1/1:.:.:0:.:.:-127.83,-11.1381,0:.:.:1418:.:.:.:0:37:.:37 1/1:2.2598E-21:27:.:0:206:.:0:36:.:0:0:40:.:36:36:.:9:100%
chr1 20501582 . G A 549.17 PASS AB=0.479167;ABP=3.19126;AC=2;ADP=44;AF=0.5;AN=4;AO=23;CIGAR=1X;DP=48;DPB=48;DPRA=0;EPP=7.63648;EPPR=3.0103;GTI=0;HET=1;HOM=0;LEN=1;MEANALT=2;MQM=60;MQMR=60;NC=0;NS=1;NUMALT=1;ODDS=126.451;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=824;QR=937;RO=24;RPL=12;RPP=3.10471;RPPR=3.0103;RPR=11;RUN=1;SAF=12;SAP=3.10471;SAR=11;SF=0,1;SRF=16;SRP=8.80089;SRR=8;TYPE=snp;WT=0;MPMANN=line50034|NM_001316722|c.C97T|immediate-stopgain;MPMTOOL=MPL;MPMSCORE=0.30866;MPMMECH= Iron binding,Sulfation,Disulfide linkage;MPMPROB=.,.,.;MPMPVAL=0.008919,0.012535,0.022549 GT:RDF:RDR:SDP:QA:RBQ:RD:GQ:GL:ADF:PVAL:RO:FREQ:ADR:QR:DP:AD:AO:ABQ 0/1:.:.:.:824:.:.:.:-60.1996,0,-70.3714:.:.:24:.:.:937:48:.:23 0/1:15:8:44:.:40:23:76:.:11:2.0219E-8:.:47.73%:10:.:44:21:.:38
chr1 32674742 . TGG TGGG 574.78 PASS AB=0.468085;ABP=3.42611;AC=2;ADP=47;AF=0.5;AN=4;AO=22;CIGAR=1M1I2M;DP=47;DPB=54.3333;DPRA=0;EPP=9.32731;EPPR=13.5202;GTI=0;HET=1;HOM=0;LEN=1;MEANALT=1;MQM=60;MQMR=60;NC=0;NS=1;NUMALT=1;ODDS=132.348;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=869;QR=1002;RO=25;RPL=8;RPP=6.56362;RPPR=5.18177;RPR=14;RUN=1;SAF=15;SAP=9.32731;SAR=7;SF=0,1;SRF=14;SRP=3.79203;SRR=11;TYPE=ins;WT=0;MPMANN=line70527|NM_001099434|c.50dupG|protein-altering;MPMTOOL=MPL;MPMSCORE=0.32329;MPMMECH=.;MPMPROB=.;MPMPVAL=. GT:ADR:PVAL:QR:QA:RDR:RO:RBQ:SDP:ADF:DP:FREQ:RDF:RD:ABQ:GQ:AD:AO:GL 0/1:.:.:1002:869:.:25:.:.:.:47:.:.:.:.:.:.:22:-64.3546,0,-76.3084 0/1:7:9.3895E-9:.:.:11:.:39:47:15:47:46.81%:14:25:39:80:22
chr1 47080679 . G A 645.35 PASS AB=0.510204;ABP=3.05462;AC=2;ADP=48;AF=0.5;AN=4;AO=25;CIGAR=1X;DP=49;DPB=49;DPRA=0;EPP=7.26639;EPPR=3.86001;GTI=0;HET=1;HOM=0;LEN=1;MEANALT=2;MQM=60;MQMR=60;NC=0;NS=1;NUMALT=1;ODDS=148.598;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=954;QR=941;RO=23;RPL=7;RPP=13.5202;RPPR=3.86001;RPR=18;RUN=1;SAF=10;SAP=5.18177;SAR=15;SF=0,1;SRF=13;SRP=3.86001;SRR=10;TYPE=snp;WT=0;MPMANN=line91200|NM_145279|c.C70T|immediate-stopgain;MPMTOOL=MPL;MPMSCORE=0.54225;MPMMECH=.;MPMPROB=.;MPMPVAL=. GT:RBQ:RO:ADF:SDP:PVAL:ADR:QA:RDR:QR:GQ:AD:ABQ:GL:AO:DP:RD:RDF:FREQ 0/1:.:23:.:.:.:.:954:.:941:.:.:.:-71.5647,0,-70.4063:25:49 0/1:40:.:10:48:4.1182E-10:15:.:10:.:93:25:38:.:.:48:23:13:52.08%
chr1 54605319 . GG GCG 412.27 PASS AB=0.38;ABP=9.26414;AC=2;ADP=48;AF=0.5;AN=4;AO=19;CIGAR=1M1I1M;DP=50;DPB=59.5;DPRA=0;EPP=3.12459;EPPR=4.16842;GTI=0;HET=1;HOM=0;LEN=1;MEANALT=2;MQM=60;MQMR=60;NC=0;NS=1;NUMALT=1;ODDS=94.9282;PAIRED=0.947368;PAIREDR=1;PAO=1;PQA=37;PQR=0;PRO=0;QA=656;QR=1174;RO=30;RPL=7;RPP=5.8675;RPPR=4.16842;RPR=12;RUN=1;SAF=9;SAP=3.12459;SAR=10;SF=0,1;SRF=8;SRP=17.1973;SRR=22;TYPE=ins;WT=0;MPMANN=line100456|NM_201546|c.1223_1224insG|protein-altering;MPMTOOL=MPL;MPMSCORE=0.28544;MPMMECH=.;MPMPROB=.;MPMPVAL=. GT:AD:RO:PVAL:QA:RD:QR:RDR:FREQ:RBQ:AO:GL:ADR:GQ:ADF:DP:ABQ:RDF:SDP 0/1:.:30:.:656:.:1174:.:.:.:19:-47.2272,0,-90.484:.:.:.:50 0/1:18:.:5.3443E-7:.:30:.:21:37.5%:38:.:.:10:62:8:48:33:9:48
chr1 55076137 . CCACTCCACATTCAGACCGTCATCCCCAGGC CC 274.02 . AB=0.395349;ABP=7.10075;AC=1;AF=0.5;AN=2;AO=17;CIGAR=1M29D1M;DP=43;DPB=29.0968;DPRA=0;EPP=6.20364;EPPR=6.01695;GTI=0;LEN=29;MEANALT=1;MQM=60;MQMR=60;NS=1;NUMALT=1;ODDS=63.0946;PAIRED=1;PAIREDR=0.961538;PAO=0;PQA=0;PQR=443;PRO=12;QA=551;QR=1041;RO=26;RPL=8;RPP=3.13803;RPPR=8.35546;RPR=9;RUN=1;SAF=7;SAP=4.1599;SAR=10;SF=0;SRF=13;SRP=3.0103;SRR=13;TYPE=del;MPMANN=line101205|NM_176782|c.1002_1030del|protein-altering;MPMTOOL=MPL;MPMSCORE=0.37503000000000003;MPMMECH=.;MPMPROB=.;MPMPVAL=. GT:DP:GL:AO:QR:QA:RO 0/1:43:-33.3067,0,-116.611:17:1041:551:26 .