1       1565702 COSV100598623   C       G       .       PASS    ANN=G|missense_variant|MODERATE|MIB2|MIB2|transcript|NM_080875.3|protein_coding|20/20|c.2834C>G|p.Ala945Gly|2965/3248|2834/3042|945/1013||,G|missense_variant|MODERATE|MIB2|MIB2|transcript|NM_001170688.1|protein_coding|19/19|c.2810C>G|p.Ala937Gly|2855/3143|2810/3018|937/1005||,G|missense_variant|MODERATE|MIB2|MIB2|transcript|NM_001170686.2|protein_coding|20/20|c.2822C>G|p.Ala941Gly|2953/3236|2822/3030|941/1009||,G|missense_variant|MODERATE|MIB2|MIB2|transcript|NM_001170687.2|protein_coding|20/20|c.2792C>G|p.Ala931Gly|2923/3206|2792/3000|931/999||,G|3_prime_UTR_variant|MODIFIER|MIB2|MIB2|transcript|NM_001170689.2|protein_coding|18/18|c.*21C>G|||||21|,G|upstream_gene_variant|MODIFIER|MMP23B|MMP23B|transcript|NM_006983.2|protein_coding||c.-1896C>G|||||1850|,G|upstream_gene_variant|MODIFIER|MMP23A|MMP23A|transcript|NR_002946.1|pseudogene||n.-2457C>G|||||2457|,G|downstream_gene_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_001787.3|protein_coding||c.*5424G>C|||||4901|,G|downstream_gene_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_001291345.2|protein_coding||c.*5424G>C|||||4901|,G|downstream_gene_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033486.3|protein_coding||c.*5424G>C|||||4901|,G|downstream_gene_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033487.3|protein_coding||c.*5424G>C|||||4901|,G|downstream_gene_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033489.3|protein_coding||c.*5424G>C|||||4901|,G|downstream_gene_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033490.3|protein_coding||c.*5424G>C|||||4901|,G|non_coding_transcript_exon_variant|MODIFIER|MIB2|MIB2|transcript|NR_033183.2|pseudogene|20/20|n.2748C>G||||||;dbNSFP_1000Gp3_AC=9;dbNSFP_1000Gp3_AF=0.00179712;dbNSFP_1000Gp3_AFR_AC=8;dbNSFP_1000Gp3_AFR_AF=0.00605144;dbNSFP_1000Gp3_AMR_AC=1;dbNSFP_1000Gp3_AMR_AF=0.00144092;dbNSFP_1000Gp3_EAS_AC=0;dbNSFP_1000Gp3_EAS_AF=0;dbNSFP_1000Gp3_EUR_AC=0;dbNSFP_1000Gp3_EUR_AF=0;dbNSFP_1000Gp3_SAS_AC=0;dbNSFP_1000Gp3_SAS_AF=0;dbNSFP_APPRIS=alternative2,alternative2,.,principal3,.,alternative2,.;dbNSFP_AltaiNeandertal=C/C;dbNSFP_Ancestral_allele=C;dbNSFP_BayesDel_addAF_pred=T;dbNSFP_BayesDel_addAF_rankscore=0.0051;dbNSFP_BayesDel_addAF_score=-0.508725;dbNSFP_BayesDel_noAF_pred=T;dbNSFP_BayesDel_noAF_rankscore=0.21603;dbNSFP_BayesDel_noAF_score=-0.507203;dbNSFP_CADD_phred=12.77;dbNSFP_CADD_phred_hg19=12.69;dbNSFP_CADD_raw=1.10017;dbNSFP_CADD_raw_hg19=0.896831;dbNSFP_CADD_raw_rankscore=0.16322;dbNSFP_CADD_raw_rankscore_hg19=0.1562;dbNSFP_ClinPred_pred=T;dbNSFP_ClinPred_rankscore=0.00032;dbNSFP_ClinPred_score=0.00301968;dbNSFP_DANN_rankscore=0.09753;dbNSFP_DANN_score=0.718023;dbNSFP_DEOGEN2_pred=.,.,.,.,.,.,T;dbNSFP_DEOGEN2_rankscore=0.64507;dbNSFP_DEOGEN2_score=.,.,.,.,.,.,0.272674;dbNSFP_Denisova=C/C;dbNSFP_Eigen_PC_phred_coding=0.631881;dbNSFP_Eigen_PC_raw_coding=-0.891296;dbNSFP_Eigen_PC_raw_coding_rankscore=0.123;dbNSFP_Eigen_phred_coding=0.527406;dbNSFP_Eigen_raw_coding=-0.894239;dbNSFP_Eigen_raw_coding_rankscore=0.10978;dbNSFP_Ensembl_geneid=ENSG00000197530,ENSG00000197530,ENSG00000197530,ENSG00000197530,ENSG00000197530,ENSG00000197530,ENSG00000197530;dbNSFP_Ensembl_proteinid=ENSP00000428660,ENSP00000348081,ENSP00000428264,ENSP00000426103,ENSP00000426128,ENSP00000367980,ENSP00000464106;dbNSFP_Ensembl_transcriptid=ENST00000520777,ENST00000355826,ENST00000518681,ENST00000505820,ENST00000504599,ENST00000378708,ENST00000483015;dbNSFP_ExAC_AC=3;dbNSFP_ExAC_AF=5.075e-05;dbNSFP_ExAC_AFR_AC=0;dbNSFP_ExAC_AFR_AF=0;dbNSFP_ExAC_AMR_AC=0;dbNSFP_ExAC_AMR_AF=0;dbNSFP_ExAC_Adj_AC=0;dbNSFP_ExAC_Adj_AF=0;dbNSFP_ExAC_EAS_AC=0;dbNSFP_ExAC_EAS_AF=0;dbNSFP_ExAC_FIN_AC=0;dbNSFP_ExAC_FIN_AF=0;dbNSFP_ExAC_NFE_AC=0;dbNSFP_ExAC_NFE_AF=0;dbNSFP_ExAC_SAS_AC=0;dbNSFP_ExAC_SAS_AF=0;dbNSFP_ExAC_nonTCGA_AC=2;dbNSFP_ExAC_nonTCGA_AF=3.863e-05;dbNSFP_ExAC_nonTCGA_AFR_AC=0;dbNSFP_ExAC_nonTCGA_AFR_AF=0;dbNSFP_ExAC_nonTCGA_AMR_AC=0;dbNSFP_ExAC_nonTCGA_AMR_AF=0;dbNSFP_ExAC_nonTCGA_Adj_AC=0;dbNSFP_ExAC_nonTCGA_Adj_AF=0;dbNSFP_ExAC_nonTCGA_EAS_AC=0;dbNSFP_ExAC_nonTCGA_EAS_AF=0;dbNSFP_ExAC_nonTCGA_FIN_AC=0;dbNSFP_ExAC_nonTCGA_FIN_AF=0;dbNSFP_ExAC_nonTCGA_NFE_AC=0;dbNSFP_ExAC_nonTCGA_NFE_AF=0;dbNSFP_ExAC_nonTCGA_SAS_AC=0;dbNSFP_ExAC_nonTCGA_SAS_AF=0;dbNSFP_ExAC_nonpsych_AC=3;dbNSFP_ExAC_nonpsych_AF=6.57e-05;dbNSFP_ExAC_nonpsych_AFR_AC=0;dbNSFP_ExAC_nonpsych_AFR_AF=0;dbNSFP_ExAC_nonpsych_AMR_AC=0;dbNSFP_ExAC_nonpsych_AMR_AF=0;dbNSFP_ExAC_nonpsych_Adj_AC=0;dbNSFP_ExAC_nonpsych_Adj_AF=0;dbNSFP_ExAC_nonpsych_EAS_AC=0;dbNSFP_ExAC_nonpsych_EAS_AF=0;dbNSFP_ExAC_nonpsych_FIN_AC=0;dbNSFP_ExAC_nonpsych_FIN_AF=0;dbNSFP_ExAC_nonpsych_NFE_AC=0;dbNSFP_ExAC_nonpsych_NFE_AF=0;dbNSFP_ExAC_nonpsych_SAS_AC=0;dbNSFP_ExAC_nonpsych_SAS_AF=0;dbNSFP_FATHMM_converted_rankscore=0.36146;dbNSFP_FATHMM_pred=T,T,T,T,T,T,T;dbNSFP_FATHMM_score=1.27,1.28,1.29,1.27,1.29,1.31,1.47;dbNSFP_GENCODE_basic=Y,Y,Y,Y,Y,Y,.;dbNSFP_GERP___NR=3.48;dbNSFP_GERP___RS=1.29;dbNSFP_GERP___RS_rankscore=0.20717;dbNSFP_GM12878_confidence_value=0;dbNSFP_GM12878_fitCons_rankscore=0.48745;dbNSFP_GM12878_fitCons_score=0.594344;dbNSFP_GenoCanyon_rankscore=0.74766;dbNSFP_GenoCanyon_score=1;dbNSFP_H1_hESC_confidence_value=0;dbNSFP_H1_hESC_fitCons_rankscore=0.31042;dbNSFP_H1_hESC_fitCons_score=0.594344;dbNSFP_HGVSc_ANNOVAR=c.2993C>G,c.2963C>G,c.2810C>G,c.3005C>G,c.2702C>G,c.2552C>G,.;dbNSFP_HGVSc_VEP=c.2993C>G,c.2963C>G,c.2810C>G,c.3005C>G,c.2702C>G,c.2552C>G,c.791C>G;dbNSFP_HGVSc_snpEff=c.2993C>G,c.2963C>G,c.2810C>G,c.3005C>G,c.2702C>G,c.2552C>G,c.791C>G;dbNSFP_HGVSp_ANNOVAR=p.A998G,p.A988G,p.A937G,p.A1002G,p.A901G,p.A851G,.;dbNSFP_HGVSp_VEP=p.Ala998Gly,p.Ala988Gly,p.Ala937Gly,p.Ala1002Gly,p.Ala901Gly,p.Ala851Gly,p.Ala264Gly;dbNSFP_HGVSp_snpEff=p.Ala998Gly,p.Ala988Gly,p.Ala937Gly,p.Ala1002Gly,p.Ala901Gly,p.Ala851Gly,p.Ala264Gly;dbNSFP_HUVEC_confidence_value=0;dbNSFP_HUVEC_fitCons_rankscore=0.48614;dbNSFP_HUVEC_fitCons_score=0.620976;dbNSFP_LIST_S2_pred=T,T,T,T,T,T,T;dbNSFP_LIST_S2_rankscore=0.49484;dbNSFP_LIST_S2_score=0.823318,0.823318,0.823318,0.823318,0.823318,0.829517,0.817118;dbNSFP_LRT_Omega=0.69253;dbNSFP_LRT_converted_rankscore=0.11971;dbNSFP_LRT_pred=U;dbNSFP_LRT_score=0.499055;dbNSFP_M_CAP_pred=D;dbNSFP_M_CAP_rankscore=0.78389;dbNSFP_M_CAP_score=0.107693;dbNSFP_MPC_rankscore=0.52832;dbNSFP_MPC_score=.,.,.,0.564479,.,.,.;dbNSFP_MVP_rankscore=0.04254;dbNSFP_MVP_score=0.048228,0.048228,0.048228,0.048228,0.048228,0.048228,0.048228;dbNSFP_MetaLR_pred=T;dbNSFP_MetaLR_rankscore=0.16849;dbNSFP_MetaLR_score=0.0391;dbNSFP_MetaSVM_pred=T;dbNSFP_MetaSVM_rankscore=0.19841;dbNSFP_MetaSVM_score=-1.0319;dbNSFP_MutationTaster_AAE=.,A909G,A910G,A945G,A851G,A901G,A1002G,A937G,A988G,A998G;dbNSFP_MutationTaster_converted_rankscore=0.3816;dbNSFP_MutationTaster_model=without_aae,simple_aae,simple_aae,simple_aae,simple_aae,simple_aae,simple_aae,simple_aae,simple_aae,simple_aae;dbNSFP_MutationTaster_pred=D,N,N,N,N,N,N,N,N,N;dbNSFP_MutationTaster_score=0.960057,0.999999,0.999999,0.999998,0.999997,0.999999,0.999999,0.999998,0.999999,0.999999;dbNSFP_PROVEAN_converted_rankscore=0.28906;dbNSFP_PROVEAN_pred=N,N,N,N,N,N,.;dbNSFP_PROVEAN_score=-0.8,-0.78,-1.12,-0.8,-0.78,-0.83,.;dbNSFP_Polyphen2_HDIV_pred=.,.,.,.,.,B,.;dbNSFP_Polyphen2_HDIV_rankscore=0.20002;dbNSFP_Polyphen2_HDIV_score=.,.,.,.,.,0.03,.;dbNSFP_Polyphen2_HVAR_pred=.,.,.,.,.,B,.;dbNSFP_Polyphen2_HVAR_rankscore=0.24256;dbNSFP_Polyphen2_HVAR_score=.,.,.,.,.,0.043,.;dbNSFP_PrimateAI_pred=T;dbNSFP_PrimateAI_rankscore=0.73808;dbNSFP_PrimateAI_score=0.745675;dbNSFP_REVEL_rankscore=0.02902;dbNSFP_REVEL_score=0.017;dbNSFP_Reliability_index=10;dbNSFP_SIFT4G_converted_rankscore=0.17115;dbNSFP_SIFT4G_pred=T,T,T,T,T,T,T;dbNSFP_SIFT4G_score=0.386,0.382,0.357,0.386,0.385,0.363,0.533;dbNSFP_SIFT_converted_rankscore=0.13175;dbNSFP_SIFT_pred=T,T,T,T,T,T,.;dbNSFP_SIFT_score=0.329,0.338,0.346,0.329,0.364,0.373,.;dbNSFP_SiPhy_29way_logOdds=4.6746;dbNSFP_SiPhy_29way_logOdds_rankscore=0.12091;dbNSFP_SiPhy_29way_pi=0.0:0.5904:0.183:0.2266;dbNSFP_TSL=1,1,1,1,2,5,3;dbNSFP_Uniprot_acc=Q96AX9-13,Q96AX9-11,Q96AX9-12,Q96AX9-14,E9PD12,F2Z2L2,J3QR95;dbNSFP_Uniprot_entry=MIB2_HUMAN,MIB2_HUMAN,MIB2_HUMAN,MIB2_HUMAN,E9PD12_HUMAN,F2Z2L2_HUMAN,J3QR95_HUMAN;dbNSFP_VEP_canonical;dbNSFP_VEST4_rankscore=0.22742;dbNSFP_VEST4_score=0.153,0.116,0.153,0.205,0.19,0.165,.;dbNSFP_VindijiaNeandertal=C/C;dbNSFP_aaalt=G;dbNSFP_aapos=998,988,937,1002,901,851,264;dbNSFP_aaref=A;dbNSFP_alt=G;dbNSFP_bStatistic=809;dbNSFP_bStatistic_converted_rankscore=0.43032;dbNSFP_cds_strand=+,+,+,+,+,+,+;dbNSFP_chr=1;dbNSFP_codon_degeneracy=0,0,0,0,0,0,0;dbNSFP_codonpos=2,2,2,2,2,2,2;dbNSFP_fathmm_MKL_coding_group=ALL;dbNSFP_fathmm_MKL_coding_pred=N;dbNSFP_fathmm_MKL_coding_rankscore=0.1332;dbNSFP_fathmm_MKL_coding_score=0.07298;dbNSFP_fathmm_XF_coding_pred=N;dbNSFP_fathmm_XF_coding_rankscore=0.1723;dbNSFP_fathmm_XF_coding_score=0.084999;dbNSFP_genename=MIB2,MIB2,MIB2,MIB2,MIB2,MIB2,MIB2;dbNSFP_gnomAD_exomes_AC=21;dbNSFP_gnomAD_exomes_AF=0.000162617;dbNSFP_gnomAD_exomes_AFR_AC=17;dbNSFP_gnomAD_exomes_AFR_AF=0.00292096;dbNSFP_gnomAD_exomes_AFR_AN=5820;dbNSFP_gnomAD_exomes_AFR_nhomalt=0;dbNSFP_gnomAD_exomes_AMR_AC=4;dbNSFP_gnomAD_exomes_AMR_AF=0.000166834;dbNSFP_gnomAD_exomes_AMR_AN=23976;dbNSFP_gnomAD_exomes_AMR_nhomalt=0;dbNSFP_gnomAD_exomes_AN=129138;dbNSFP_gnomAD_exomes_ASJ_AC=0;dbNSFP_gnomAD_exomes_ASJ_AF=0;dbNSFP_gnomAD_exomes_ASJ_AN=7864;dbNSFP_gnomAD_exomes_ASJ_nhomalt=0;dbNSFP_gnomAD_exomes_EAS_AC=0;dbNSFP_gnomAD_exomes_EAS_AF=0;dbNSFP_gnomAD_exomes_EAS_AN=9756;dbNSFP_gnomAD_exomes_EAS_nhomalt=0;dbNSFP_gnomAD_exomes_FIN_AC=0;dbNSFP_gnomAD_exomes_FIN_AF=0;dbNSFP_gnomAD_exomes_FIN_AN=9252;dbNSFP_gnomAD_exomes_FIN_nhomalt=0;dbNSFP_gnomAD_exomes_NFE_AC=0;dbNSFP_gnomAD_exomes_NFE_AF=0;dbNSFP_gnomAD_exomes_NFE_AN=46640;dbNSFP_gnomAD_exomes_NFE_nhomalt=0;dbNSFP_gnomAD_exomes_POPMAX_AC=17;dbNSFP_gnomAD_exomes_POPMAX_AF=0.00292096;dbNSFP_gnomAD_exomes_POPMAX_AN=5820;dbNSFP_gnomAD_exomes_POPMAX_nhomalt=0;dbNSFP_gnomAD_exomes_SAS_AC=0;dbNSFP_gnomAD_exomes_SAS_AF=0;dbNSFP_gnomAD_exomes_SAS_AN=21946;dbNSFP_gnomAD_exomes_SAS_nhomalt=0;dbNSFP_gnomAD_exomes_controls_AC=11;dbNSFP_gnomAD_exomes_controls_AF=0.000198893;dbNSFP_gnomAD_exomes_controls_AFR_AC=7;dbNSFP_gnomAD_exomes_controls_AFR_AF=0.00319927;dbNSFP_gnomAD_exomes_controls_AFR_AN=2188;dbNSFP_gnomAD_exomes_controls_AFR_nhomalt=0;dbNSFP_gnomAD_exomes_controls_AMR_AC=4;dbNSFP_gnomAD_exomes_controls_AMR_AF=0.000335289;dbNSFP_gnomAD_exomes_controls_AMR_AN=11930;dbNSFP_gnomAD_exomes_controls_AMR_nhomalt=0;dbNSFP_gnomAD_exomes_controls_AN=55306;dbNSFP_gnomAD_exomes_controls_ASJ_AC=0;dbNSFP_gnomAD_exomes_controls_ASJ_AF=0;dbNSFP_gnomAD_exomes_controls_ASJ_AN=1424;dbNSFP_gnomAD_exomes_controls_ASJ_nhomalt=0;dbNSFP_gnomAD_exomes_controls_EAS_AC=0;dbNSFP_gnomAD_exomes_controls_EAS_AF=0;dbNSFP_gnomAD_exomes_controls_EAS_AN=3690;dbNSFP_gnomAD_exomes_controls_EAS_nhomalt=0;dbNSFP_gnomAD_exomes_controls_FIN_AC=0;dbNSFP_gnomAD_exomes_controls_FIN_AF=0;dbNSFP_gnomAD_exomes_controls_FIN_AN=5414;dbNSFP_gnomAD_exomes_controls_FIN_nhomalt=0;dbNSFP_gnomAD_exomes_controls_NFE_AC=0;dbNSFP_gnomAD_exomes_controls_NFE_AF=0;dbNSFP_gnomAD_exomes_controls_NFE_AN=18510;dbNSFP_gnomAD_exomes_controls_NFE_nhomalt=0;dbNSFP_gnomAD_exomes_controls_POPMAX_AC=7;dbNSFP_gnomAD_exomes_controls_POPMAX_AF=0.00319927;dbNSFP_gnomAD_exomes_controls_POPMAX_AN=2188;dbNSFP_gnomAD_exomes_controls_POPMAX_nhomalt=0;dbNSFP_gnomAD_exomes_controls_SAS_AC=0;dbNSFP_gnomAD_exomes_controls_SAS_AF=0;dbNSFP_gnomAD_exomes_controls_SAS_AN=10900;dbNSFP_gnomAD_exomes_controls_SAS_nhomalt=0;dbNSFP_gnomAD_exomes_controls_nhomalt=0;dbNSFP_gnomAD_exomes_nhomalt=0;dbNSFP_gnomAD_genomes_AC=131;dbNSFP_gnomAD_genomes_AF=0.000921678;dbNSFP_gnomAD_genomes_AFR_AC=126;dbNSFP_gnomAD_genomes_AFR_AF=0.00303775;dbNSFP_gnomAD_genomes_AFR_AN=41478;dbNSFP_gnomAD_genomes_AFR_nhomalt=0;dbNSFP_gnomAD_genomes_AMI_AC=0;dbNSFP_gnomAD_genomes_AMI_AF=0;dbNSFP_gnomAD_genomes_AMI_AN=892;dbNSFP_gnomAD_genomes_AMI_nhomalt=0;dbNSFP_gnomAD_genomes_AMR_AC=4;dbNSFP_gnomAD_genomes_AMR_AF=0.000294118;dbNSFP_gnomAD_genomes_AMR_AN=13600;dbNSFP_gnomAD_genomes_AMR_nhomalt=0;dbNSFP_gnomAD_genomes_AN=142132;dbNSFP_gnomAD_genomes_ASJ_AC=0;dbNSFP_gnomAD_genomes_ASJ_AF=0;dbNSFP_gnomAD_genomes_ASJ_AN=3316;dbNSFP_gnomAD_genomes_ASJ_nhomalt=0;dbNSFP_gnomAD_genomes_EAS_AC=0;dbNSFP_gnomAD_genomes_EAS_AF=0;dbNSFP_gnomAD_genomes_EAS_AN=3112;dbNSFP_gnomAD_genomes_EAS_nhomalt=0;dbNSFP_gnomAD_genomes_FIN_AC=0;dbNSFP_gnomAD_genomes_FIN_AF=0;dbNSFP_gnomAD_genomes_FIN_AN=10422;dbNSFP_gnomAD_genomes_FIN_nhomalt=0;dbNSFP_gnomAD_genomes_NFE_AC=1;dbNSFP_gnomAD_genomes_NFE_AF=1.55807e-05;dbNSFP_gnomAD_genomes_NFE_AN=64182;dbNSFP_gnomAD_genomes_NFE_nhomalt=0;dbNSFP_gnomAD_genomes_POPMAX_AC=1;dbNSFP_gnomAD_genomes_POPMAX_AF=1.55807e-05;dbNSFP_gnomAD_genomes_POPMAX_AN=64182;dbNSFP_gnomAD_genomes_POPMAX_nhomalt=0;dbNSFP_gnomAD_genomes_SAS_AC=0;dbNSFP_gnomAD_genomes_SAS_AF=0;dbNSFP_gnomAD_genomes_SAS_AN=2996;dbNSFP_gnomAD_genomes_SAS_nhomalt=0;dbNSFP_gnomAD_genomes_nhomalt=0;dbNSFP_hg18_chr=1;dbNSFP_hg18_pos_1_based_=1555565;dbNSFP_hg19_chr=1;dbNSFP_hg19_pos_1_based_=1565702;dbNSFP_integrated_confidence_value=0;dbNSFP_integrated_fitCons_rankscore=0.87236;dbNSFP_integrated_fitCons_score=0.72623;dbNSFP_phastCons100way_vertebrate=0.087;dbNSFP_phastCons100way_vertebrate_rankscore=0.2251;dbNSFP_phastCons17way_primate=0.256;dbNSFP_phastCons17way_primate_rankscore=0.23417;dbNSFP_phastCons30way_mammalian=0.053;dbNSFP_phastCons30way_mammalian_rankscore=0.17203;dbNSFP_phyloP100way_vertebrate=1.147;dbNSFP_phyloP100way_vertebrate_rankscore=0.31213;dbNSFP_phyloP17way_primate=0.513;dbNSFP_phyloP17way_primate_rankscore=0.23382;dbNSFP_phyloP30way_mammalian=0.041;dbNSFP_phyloP30way_mammalian_rankscore=0.14668;dbNSFP_pos_1_based_=1565702;dbNSFP_ref=C;dbNSFP_refcodon=GCC,GCC,GCC,GCC,GCC,GCC,GCC;dbNSFP_rs_dbSNP151=rs527303383;COSMIC_AA=p.A909G,p.A1002G,p.A945G,p.A988G,p.A910G,p.A901G,p.A851G,p.?,p.A937G,p.A998G;COSMIC_CDS=c.2726C>G,c.3005C>G,c.2834C>G,c.2963C>G,c.2729C>G,c.2702C>G,c.2552C>G,c.*21C>G,c.2810C>G,c.2993C>G;COSMIC_CNT=1,1,1,1,1,1,1,1,1,1;COSMIC_GENE=MIB2_ENST00000378710,MIB2,MIB2_ENST00000357210,MIB2_ENST00000355826,MIB2_ENST00000360522,MIB2_ENST00000504599,MIB2_ENST00000378708,MIB2_ENST00000378712,MIB2_ENST00000518681,MIB2_ENST00000520777;COSMIC_HGVSC=ENST00000378710.3:c.2726C>G,ENST00000505820.2:c.3005C>G,ENST00000357210.4:c.2834C>G,ENST00000355826.5:c.2963C>G,ENST00000360522.4:c.2729C>G,ENST00000504599.1:c.2702C>G,ENST00000378708.1:c.2552C>G,ENST00000378712.1:c.*21C>G,ENST00000518681.1:c.2810C>G,ENST00000520777.1:c.2993C>G;COSMIC_HGVSG=1:g.1565702C>G,1:g.1565702C>G,1:g.1565702C>G,1:g.1565702C>G,1:g.1565702C>G,1:g.1565702C>G,1:g.1565702C>G,1:g.1565702C>G,1:g.1565702C>G,1:g.1565702C>G;COSMIC_HGVSP=ENSP00000367982.3:p.Ala909Gly,ENSP00000426103.2:p.Ala1002Gly,ENSP00000349741.4:p.Ala945Gly,ENSP00000348081.5:p.Ala988Gly,ENSP00000353713.4:p.Ala910Gly,ENSP00000426128.1:p.Ala901Gly,ENSP00000367980.1:p.Ala851Gly,ENSP00000428264.1:p.Ala937Gly,ENSP00000428660.1:p.Ala998Gly;COSMIC_LEGACY_ID=COSM7571312,COSM7571312,COSM7571312,COSM7571312,COSM7571312,COSM7571312,COSM7571312,COSM7571312,COSM7571312,COSM7571312;COSMIC_STRAND=+,+,+,+,+,+,+,+,+,+ GT:AD:DP     ./.:.:.  ./.:.:. ./.:.:. ./.:.:. ./.:.:. ./.:.:. ./.:.:.