Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source ARF4 378 genome.wustl.edu 37 3 57563077 57563077 + Missense_Mutation SNP C C T TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 3 57563077 57563077 C T SNP ARF4 ENST00000303436 human ensembl 70_37 -1 known missense c.296 p.R99K 1.000 pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Small_GTPase,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,pfam_MIRO-like,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Small_GTPase,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,pfam_MIRO-like,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors ARF4 HGNC ARHGEF38 54848 genome.wustl.edu 37 4 106566402 106566402 + Silent SNP G G A TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 4 106566402 106566402 G A SNP ARHGEF38 ENST00000420470 human ensembl 70_37 +1 putative silent c.732 p.V244 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_BAR_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF38 HGNC ATP1B3 483 genome.wustl.edu 37 3 141644553 141644553 + RNA SNP G G A TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 3 141644553 141644553 G A SNP ATP1B3 ENST00000484727 human ensembl 70_37 +1 putative rna NULL NULL 0.003 - - - no_errors ATP1B3 HGNC BATF2 116071 genome.wustl.edu 37 11 64764365 64764365 + Missense_Mutation SNP C C T TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 11 64764365 64764365 C T SNP BATF2 ENST00000301887 human ensembl 70_37 -1 known missense c.22 p.G8R 0.005 superfamily_Euk_TF_DNA-bd pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors BATF2 HGNC BEND7 222389 genome.wustl.edu 37 10 13481266 13481266 + Missense_Mutation SNP G G A TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 10 13481266 13481266 G A SNP BEND7 ENST00000396900 human ensembl 70_37 -1 known missense c.1466 p.S489L 0.002 NULL pfam_BEN_domain - no_errors BEND7 HGNC C15orf40 123207 genome.wustl.edu 37 15 83680348 83680348 + Silent SNP G G A TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 15 83680348 83680348 G A SNP C15orf40 ENST00000451195 human ensembl 70_37 -1 known silent c.12 p.L4 0.000 NULL pfam_DUF167,superfamily_DUF167 - no_errors C15orf40 HGNC C7orf57 136288 genome.wustl.edu 37 7 48081068 48081068 + Missense_Mutation SNP G G C TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 7 48081068 48081068 G C SNP C7orf57 ENST00000348904 human ensembl 70_37 +1 known missense c.193 p.E65Q 1.000 NULL NULL - no_errors C7orf57 HGNC CCAR1 55749 genome.wustl.edu 37 10 70546378 70546378 + Missense_Mutation SNP T T C TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 10 70546378 70546378 T C SNP CCAR1 ENST00000265872 human ensembl 70_37 +1 known missense c.2809 p.C937R 1.000 NULL pfam_SAP_DNA-bd,superfamily_NA-bd_OB-fold-like,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd - no_errors CCAR1 HGNC CREB3 10488 genome.wustl.edu 37 9 35736237 35736237 + Missense_Mutation SNP C C T TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 9 35736237 35736237 C T SNP CREB3 ENST00000353704 human ensembl 70_37 +1 known missense c.710 p.S237F 1.000 NULL pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors CREB3 HGNC CTCF 10664 genome.wustl.edu 37 16 67645908 67645908 + Missense_Mutation SNP C C T TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 16 67645908 67645908 C T SNP CTCF ENST00000264010 human ensembl 70_37 +1 known missense c.836 p.S279L 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CTCF HGNC DNAJC14 85406 genome.wustl.edu 37 12 56221331 56221331 + Missense_Mutation SNP G G A TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 12 56221331 56221331 G A SNP DNAJC14 ENST00000317269 human ensembl 70_37 -1 known missense c.1112 p.S371F 0.996 NULL pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC14 HGNC DUS3L 56931 genome.wustl.edu 37 19 5789395 5789395 + Missense_Mutation SNP G G A TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 19 5789395 5789395 G A SNP DUS3L ENST00000590110 human ensembl 70_37 -1 known missense c.521 p.P174L 0.000 NULL NULL - no_errors DUS3L HGNC ELAVL2 1993 genome.wustl.edu 37 9 23762091 23762091 + Nonsense_Mutation SNP G G A TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 9 23762091 23762091 G A SNP ELAVL2 ENST00000359598 human ensembl 70_37 -1 known nonsense c.226 p.Q76* 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF - no_errors ELAVL2 HGNC ENSG00000220161 0 genome.wustl.edu 37 17 18315314 18315314 + RNA SNP C C T TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 17 18315314 18315314 C T SNP ENSG00000220161 ENST00000407600 human ensembl 70_37 +1 known rna NULL NULL 0.925 - - - no_errors RP1-37N7.3 Clone_based_vega_gene ENSG00000222042 0 genome.wustl.edu 37 21 26541865 26541865 + RNA SNP T T C TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 21 26541865 26541865 T C SNP ENSG00000222042 ENST00000409758 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AP000233.4 Clone_based_vega_gene ENSG00000229750 0 genome.wustl.edu 37 2 176032661 176032661 + RNA SNP G G A TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 2 176032661 176032661 G A SNP ENSG00000229750 ENST00000449168 human ensembl 70_37 +1 known rna NULL NULL 0.977 - - - no_errors AC096649.2 Clone_based_vega_gene ENSG00000251031 0 genome.wustl.edu 37 5 144608325 144608325 + RNA SNP G G T TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 5 144608325 144608325 G T SNP ENSG00000251031 ENST00000504204 human ensembl 70_37 -1 known rna NULL NULL 0.414 - - - no_errors CTC-367F4.1 Clone_based_vega_gene FAM155B 27112 genome.wustl.edu 37 X 68749616 68749616 + Missense_Mutation SNP C C A TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 X 68749616 68749616 C A SNP FAM155B ENST00000252338 human ensembl 70_37 +1 known missense c.1236 p.S412R 0.865 NULL NULL - no_errors FAM155B HGNC FAM174B 400451 genome.wustl.edu 37 15 93162638 93162638 + Missense_Mutation SNP G G A TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 15 93162638 93162638 G A SNP FAM174B ENST00000555064 human ensembl 70_37 -1 putative missense c.104 p.A35V 0.019 NULL NULL - no_errors FAM174B HGNC FAM174B 400451 genome.wustl.edu 37 15 93277233 93277233 + RNA SNP C C T TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 15 93277233 93277233 C T SNP FAM174B ENST00000556424 human ensembl 70_37 -1 known rna NULL NULL 0.996 - - - no_errors FAM174B HGNC NUTM2D 728130 genome.wustl.edu 37 10 89125891 89125891 + RNA SNP C C T TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 10 89125891 89125891 C T SNP FAM22D ENST00000465545 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors FAM22D HGNC FANCA 2175 genome.wustl.edu 37 16 89849269 89849269 + Nonsense_Mutation SNP C C A TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 16 89849269 89849269 C A SNP FANCA ENST00000389301 human ensembl 70_37 -1 known nonsense c.1624 p.E542* 0.306 NULL pfam_Fanconia,prints_Fanconia - no_errors FANCA HGNC FGF11 2256 genome.wustl.edu 37 17 7344828 7344828 + Missense_Mutation SNP C C T TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 17 7344828 7344828 C T SNP FGF11 ENST00000293829 human ensembl 70_37 +1 known missense c.232 p.R78C 1.000 pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd,prints_IL1_HBGF - no_errors FGF11 HGNC FMN2 56776 genome.wustl.edu 37 1 240421305 240421305 + Missense_Mutation SNP C C A TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 1 240421305 240421305 C A SNP FMN2 ENST00000319653 human ensembl 70_37 +1 known missense c.4126 p.H1376N 1.000 pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg pfam_FH2_actin-bd,pfam_Formin_homology_1,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,pfscan_DEP_dom - no_errors FMN2 HGNC GNAT1 2779 genome.wustl.edu 37 3 50231284 50231284 + Missense_Mutation SNP C C T TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 3 50231284 50231284 C T SNP GNAT1 ENST00000232461 human ensembl 70_37 +1 known missense c.548 p.T183M 0.991 pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I - no_errors GNAT1 HGNC GPR128 84873 genome.wustl.edu 37 3 100364821 100364821 + Nonsense_Mutation SNP C C T TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 3 100364821 100364821 C T SNP GPR128 ENST00000273352 human ensembl 70_37 +1 known nonsense c.979 p.Q327* 1.000 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR128 HGNC GSG2 83903 genome.wustl.edu 37 17 3629351 3629351 + Missense_Mutation SNP G G C TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 17 3629351 3629351 G C SNP GSG2 ENST00000325418 human ensembl 70_37 +1 known missense c.2122 p.E708Q 0.305 pfam_DUF3635,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom pfam_DUF3635,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom - no_errors GSG2 HGNC HNRNPUL2 221092 genome.wustl.edu 37 11 62489768 62489768 + Silent SNP G G A TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 11 62489768 62489768 G A SNP HNRNPUL2 ENST00000301785 human ensembl 70_37 -1 known silent c.1180 p.L394 0.957 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_SAP_DNA-bd,pfam_Zeta_toxin_domain,pfam_Chromatin_KTI12,superfamily_ConA-like_lec_gl_sf,smart_SAP_DNA-bd,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_DNA-bd - no_errors HNRNPUL2 HGNC HOXC8 3224 genome.wustl.edu 37 12 54405015 54405015 + Silent SNP G G A TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 12 54405015 54405015 G A SNP HOXC8 ENST00000040584 human ensembl 70_37 +1 known silent c.579 p.V193 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_HTH_motif pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_HTH_motif - no_errors HOXC8 HGNC INCENP 3619 genome.wustl.edu 37 11 61906405 61906405 + Missense_Mutation SNP G G A TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 11 61906405 61906405 G A SNP INCENP ENST00000394818 human ensembl 70_37 +1 known missense c.1219 p.E407K 0.044 NULL pfam_INCENP_N,pfam_Inner_centromere_prot_ARK-bd - no_errors INCENP HGNC IRAK3 11213 genome.wustl.edu 37 12 66638954 66638954 + Missense_Mutation SNP C C T TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 12 66638954 66638954 C T SNP IRAK3 ENST00000261233 human ensembl 70_37 +1 known missense c.1226 p.P409L 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death,superfamily_Kinase-like_dom,superfamily_DEATH-like,smart_Death,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Death,pfscan_Prot_kinase_cat_dom - no_errors IRAK3 HGNC KCNJ8 3764 genome.wustl.edu 37 12 21919090 21919090 + Missense_Mutation SNP G G A TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 12 21919090 21919090 G A SNP KCNJ8 ENST00000240662 human ensembl 70_37 -1 known missense c.842 p.S281L 1.000 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir6.1 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir6.1 - no_errors KCNJ8 HGNC KDM3B 51780 genome.wustl.edu 37 5 137727474 137727474 + Missense_Mutation SNP C C G TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 5 137727474 137727474 C G SNP KDM3B ENST00000314358 human ensembl 70_37 +1 known missense c.2153 p.S718C 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3B HGNC KDM3B 51780 genome.wustl.edu 37 5 137727607 137727607 + Silent SNP C C G TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 5 137727607 137727607 C G SNP KDM3B ENST00000314358 human ensembl 70_37 +1 known silent c.2286 p.L762 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3B HGNC KDM3B 51780 genome.wustl.edu 37 5 137727650 137727650 + Missense_Mutation SNP C C G TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 5 137727650 137727650 C G SNP KDM3B ENST00000314358 human ensembl 70_37 +1 known missense c.2329 p.L777V 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3B HGNC KDM3B 51780 genome.wustl.edu 37 5 137727777 137727777 + Nonsense_Mutation SNP C C G TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 5 137727777 137727777 C G SNP KDM3B ENST00000314358 human ensembl 70_37 +1 known nonsense c.2456 p.S819* 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3B HGNC KTN1 3895 genome.wustl.edu 37 14 56106701 56106701 + Missense_Mutation SNP A A T TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 14 56106701 56106701 A T SNP KTN1 ENST00000395309 human ensembl 70_37 +1 known missense c.1894 p.S632C 1.000 NULL NULL - no_errors KTN1 HGNC LIFR-AS1 100506495 genome.wustl.edu 37 5 38557749 38557749 + RNA SNP G G A TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 5 38557749 38557749 G A SNP LIFR-AS1 ENST00000500733 human ensembl 70_37 +1 known rna NULL NULL 0.058 - - - no_errors LIFR-AS1 HGNC LPCAT2 54947 genome.wustl.edu 37 16 55562473 55562473 + Nonsense_Mutation SNP C C T TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 16 55562473 55562473 C T SNP LPCAT2 ENST00000262134 human ensembl 70_37 +1 known nonsense c.496 p.R166* 0.625 pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase pfam_EF-hand,pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin - no_errors LPCAT2 HGNC LY9 4063 genome.wustl.edu 37 1 160784494 160784494 + Missense_Mutation SNP G G A TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 1 160784494 160784494 G A SNP LY9 ENST00000263285 human ensembl 70_37 +1 known missense c.1015 p.V339M 0.007 smart_Ig_sub smart_Ig_sub,pfscan_Ig-like - no_errors LY9 HGNC MIA2 117153 genome.wustl.edu 37 14 39722048 39722048 + Missense_Mutation SNP C C T TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 14 39722048 39722048 C T SNP MIA2 ENST00000280082 human ensembl 70_37 +1 novel missense c.1664 p.S555L 0.003 NULL pfam_SH3_2,superfamily_SH3_domain - no_errors MIA2 HGNC MIR137HG 400765 genome.wustl.edu 37 1 98515117 98515117 + RNA SNP C C T TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 1 98515117 98515117 C T SNP MIR137HG ENST00000424528 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors MIR137HG HGNC MT-ND5 4540 genome.wustl.edu 37 MT 13267 13267 + Nonsense_Mutation SNP G G A TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 MT 13267 13267 G A SNP MT-ND5 ENST00000361567 human ensembl 70_37 +1 known nonsense c.931 p.G311* NULL pfam_NADH_UbQ/plastoQ_OxRdtase,tigrfam_NADHpl_OxRdtase_5 pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC MUC4 4585 genome.wustl.edu 37 3 195492148 195492148 + Silent SNP G G A TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 3 195492148 195492148 G A SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known silent c.13791 p.V4597 0.000 pfam_AMOP,smart_AMOP,pfscan_AMOP pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC MUC4 4585 genome.wustl.edu 37 3 195506302 195506302 + Missense_Mutation SNP G G T TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 3 195506302 195506302 G T SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.12149 p.P4050H 0.021 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC OR51J1 79470 genome.wustl.edu 37 11 5424626 5424626 + Missense_Mutation SNP G G T TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 11 5424626 5424626 G T SNP OR51J1 ENST00000332043 human ensembl 70_37 +1 known missense c.800 p.G267V 0.890 pfscan_GPCR_Rhodpsn_7TM pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors OR51J1 HGNC PDE4C 5143 genome.wustl.edu 37 19 18331127 18331127 + Silent SNP G G A TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 19 18331127 18331127 G A SNP PDE4C ENST00000355502 human ensembl 70_37 -1 known silent c.711 p.F237 1.000 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE4C HGNC PHKA2 5256 genome.wustl.edu 37 X 18944619 18944619 + Missense_Mutation SNP T T C TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 X 18944619 18944619 T C SNP PHKA2 ENST00000379942 human ensembl 70_37 -1 known missense c.1411 p.I471V 0.985 pfam_Glyco_hydro_15 pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKA2 HGNC PIK3CA 5290 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC PLEKHA1 59338 genome.wustl.edu 37 10 124187844 124187844 + Missense_Mutation SNP G G A TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 10 124187844 124187844 G A SNP PLEKHA1 ENST00000538022 human ensembl 70_37 +1 known missense c.953 p.R318K 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA1 HGNC PLTP 5360 genome.wustl.edu 37 20 44540071 44540071 + Silent SNP G G A TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 20 44540071 44540071 G A SNP PLTP ENST00000542937 human ensembl 70_37 -1 known silent c.81 p.L27 0.266 NULL pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors PLTP HGNC RASD2 23551 genome.wustl.edu 37 22 35947704 35947704 + Silent SNP C C T TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 22 35947704 35947704 C T SNP RASD2 ENST00000216127 human ensembl 70_37 +1 known silent c.426 p.N142 0.809 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RASD2 HGNC SLC10A3 8273 genome.wustl.edu 37 X 153716978 153716978 + Missense_Mutation SNP G G A TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 X 153716978 153716978 G A SNP SLC10A3 ENST00000263512 human ensembl 70_37 -1 known missense c.302 p.P101L 0.000 NULL pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt - no_errors SLC10A3 HGNC SLC37A3 84255 genome.wustl.edu 37 7 140051159 140051159 + Missense_Mutation SNP T T G TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 7 140051159 140051159 T G SNP SLC37A3 ENST00000326232 human ensembl 70_37 -1 known missense c.796 p.N266H 0.872 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC37A3 HGNC SLC44A1 23446 genome.wustl.edu 37 9 108147760 108147760 + Missense_Mutation SNP G G C TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 9 108147760 108147760 G C SNP SLC44A1 ENST00000374720 human ensembl 70_37 +1 known missense c.1927 p.D643H 1.000 NULL pfam_Choline_transptr-like - no_errors SLC44A1 HGNC SLX4 84464 genome.wustl.edu 37 16 3632683 3632683 + Missense_Mutation SNP C C G TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 16 3632683 3632683 C G SNP SLX4 ENST00000294008 human ensembl 70_37 -1 known missense c.5165 p.C1722S 0.005 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors SLX4 HGNC SRRD 402055 genome.wustl.edu 37 22 26887615 26887615 + Missense_Mutation SNP G G A TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 22 26887615 26887615 G A SNP SRRD ENST00000215917 human ensembl 70_37 +1 known missense c.997 p.E333K 0.000 NULL pfam_SRR1-like - no_errors SRRD HGNC ST7L 54879 genome.wustl.edu 37 1 113162416 113162416 + RNA SNP C C T TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 1 113162416 113162416 C T SNP ST7L ENST00000492274 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors ST7L HGNC TBP 6908 genome.wustl.edu 37 6 170871052 170871053 + Frame_Shift_Del DEL GC GC - TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 GC GC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 6 170871052 170871053 GC - DEL TBP ENST00000230354 human ensembl 70_37 +1 known frame_shift_del c.228_229 p.Q77fs 0.994:0.996 NULL pfam_TBP,prints_TBP - no_errors TBP HGNC TBP 6908 genome.wustl.edu 37 6 170871055 170871055 + Frame_Shift_Del DEL G G - TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 6 170871055 170871055 G - DEL TBP ENST00000230354 human ensembl 70_37 +1 known frame_shift_del c.231 p.Q77fs 0.993 NULL pfam_TBP,prints_TBP - no_errors TBP HGNC TET1 80312 genome.wustl.edu 37 10 70333214 70333215 + Frame_Shift_Ins INS - - C TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 10 70333214 70333215 - C INS TET1 ENST00000373644 human ensembl 70_37 +1 known frame_shift_ins c.1119_1120 p.H373fs 0.725:0.713 NULL pfam_Znf_CXXC,pfscan_Znf_CXXC - no_errors TET1 HGNC TMEM52B 120939 genome.wustl.edu 37 12 10339160 10339160 + Silent SNP C C T TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 12 10339160 10339160 C T SNP TMEM52B ENST00000381923 human ensembl 70_37 +1 known silent c.279 p.H93 0.903 NULL NULL - no_errors TMEM52B HGNC TNPO3 23534 genome.wustl.edu 37 7 128657089 128657089 + Missense_Mutation SNP G G A TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 7 128657089 128657089 G A SNP TNPO3 ENST00000393245 human ensembl 70_37 -1 known missense c.343 p.L115F 1.000 pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold - no_errors TNPO3 HGNC TRIB2 28951 genome.wustl.edu 37 2 12880515 12880515 + Silent SNP C C T TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 2 12880515 12880515 C T SNP TRIB2 ENST00000155926 human ensembl 70_37 +1 known silent c.627 p.L209 0.387 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors TRIB2 HGNC TSC1 7248 genome.wustl.edu 37 9 135801121 135801121 + Silent SNP G G C TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 9 135801121 135801121 G C SNP TSC1 ENST00000298552 human ensembl 70_37 -1 known silent c.216 p.L72 1.000 pfam_Hamartin,superfamily_ARM-type_fold pfam_Hamartin,superfamily_ARM-type_fold - no_errors TSC1 HGNC TSKS 60385 genome.wustl.edu 37 19 50243366 50243366 + Silent SNP G G A TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 19 50243366 50243366 G A SNP TSKS ENST00000246801 human ensembl 70_37 -1 known silent c.1572 p.D524 1.000 NULL NULL - no_errors TSKS HGNC TTC6 319089 genome.wustl.edu 37 14 38220270 38220270 + Missense_Mutation SNP C C T TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 14 38220270 38220270 C T SNP TTC6 ENST00000553443 human ensembl 70_37 +1 novel missense c.2969 p.S990L 1.000 smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC6 HGNC VARS 7407 genome.wustl.edu 37 6 31746941 31746941 + Missense_Mutation SNP C C T TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 6 31746941 31746941 C T SNP VARS ENST00000375663 human ensembl 70_37 -1 known missense c.3529 p.A1177T 1.000 superfamily_tRNAsynth_1a_anticodon-bd,tigrfam_Valyl-tRNA_ligase pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Glutathione_S-Trfase_N,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_GST_C,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,superfamily_tRNA-bd_arm,prints_Valyl-tRNA_ligase,tigrfam_Valyl-tRNA_ligase - no_errors VARS HGNC VPRBP 9730 genome.wustl.edu 37 3 51457980 51457980 + Missense_Mutation SNP C C T TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 3 51457980 51457980 C T SNP VPRBP ENST00000335891 human ensembl 70_37 -1 known missense c.1097 p.R366Q 1.000 superfamily_ARM-type_fold superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors VPRBP HGNC YES1 7525 genome.wustl.edu 37 18 742944 742944 + Missense_Mutation SNP T T G TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 18 742944 742944 T G SNP YES1 ENST00000314574 human ensembl 70_37 -1 known missense c.1034 p.Y345S 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors YES1 HGNC ZNF214 7761 genome.wustl.edu 37 11 7022682 7022682 + Missense_Mutation SNP A A C TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 11 7022682 7022682 A C SNP ZNF214 ENST00000278314 human ensembl 70_37 -1 known missense c.232 p.Y78D 0.000 pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF214 HGNC ZNF285 26974 genome.wustl.edu 37 19 44891043 44891043 + Missense_Mutation SNP G G T TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 19 44891043 44891043 G T SNP ZNF285 ENST00000330997 human ensembl 70_37 -1 known missense c.1364 p.P455Q 0.995 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF285 HGNC ZNF490 57474 genome.wustl.edu 37 19 12721468 12721468 + Silent SNP G G A TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 43f1663d-29b7-4653-ac53-0b2a724ed57e e9ae2a3c-f934-43a6-a00b-ea04105a5926 19 12721468 12721468 G A SNP ZNF490 ENST00000311437 human ensembl 70_37 -1 known silent c.27 p.F9 0.155 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF490 HGNC