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_WU start_WU stop_WU reference_WU variant_WU type_WU gene_name_WU transcript_name_WU transcript_species_WU transcript_source_WU transcript_version_WU strand_WU transcript_status_WU trv_type_WU c_position_WU amino_acid_change_WU ucsc_cons_WU domain_WU all_domains_WU deletion_substructures_WU transcript_error_WU default_gene_name_WU gene_name_source_WU ensembl_gene_id normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumors_var_reads tumor_vaf EVS_EA EVS_AA EVS_All ANKS6 0 genome.wustl.edu 37 9 101546367 101546367 + Missense_Mutation SNP G G A TCGA-BH-A0DI-01A-21D-A12Q-09 TCGA-BH-A0DI-11A-32D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3777748c-5614-4826-8cde-eb7ecefb8101 505bcff2-103a-4183-80cd-203ae6a5a31c 9 101546367 101546367 G A SNP ANKS6 ENST00000375018 human ensembl 69_37n -1 known missense c.980 p.A327V 0.999 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,prints_Ankyrin_rpt - no_errors ANKS6 HGNC ENSG00000165138 98 0 0.00 54 14 20.29 - - - ANXA6 0 genome.wustl.edu 37 5 150483207 150483207 + Missense_Mutation SNP C C T TCGA-BH-A0DI-01A-21D-A12Q-09 TCGA-BH-A0DI-11A-32D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3777748c-5614-4826-8cde-eb7ecefb8101 505bcff2-103a-4183-80cd-203ae6a5a31c 5 150483207 150483207 C T SNP ANXA6 ENST00000354546 human ensembl 69_37n -1 known missense c.1886 p.R629H 1.000 pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin,prints_AnnexinVI,prints_AnnexinIV - no_errors ANXA6 HGNC ENSG00000197043 140 0 0.00 117 22 15.83 - - - CCDC147 0 genome.wustl.edu 37 10 106166473 106166473 + Silent SNP G G T TCGA-BH-A0DI-01A-21D-A12Q-09 TCGA-BH-A0DI-11A-32D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3777748c-5614-4826-8cde-eb7ecefb8101 505bcff2-103a-4183-80cd-203ae6a5a31c 10 106166473 106166473 G T SNP CCDC147 ENST00000369704 human ensembl 69_37n +1 known silent c.2178 p.L726 1.000 superfamily_Homeodomain-like superfamily_Homeodomain-like - no_errors CCDC147 HGNC ENSG00000120051 169 1 0.59 121 25 17.01 - - - CDH8 0 genome.wustl.edu 37 16 61687928 61687928 + Missense_Mutation SNP C C T TCGA-BH-A0DI-01A-21D-A12Q-09 TCGA-BH-A0DI-11A-32D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3777748c-5614-4826-8cde-eb7ecefb8101 505bcff2-103a-4183-80cd-203ae6a5a31c 16 61687928 61687928 C T SNP CDH8 ENST00000577390 human ensembl 69_37n -1 known missense c.1984 p.E662K 1.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CDH8 HGNC ENSG00000150394 74 0 0.00 69 17 19.54 - - - CDK7 0 genome.wustl.edu 37 5 68565064 68565064 + Missense_Mutation SNP G G C TCGA-BH-A0DI-01A-21D-A12Q-09 TCGA-BH-A0DI-11A-32D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3777748c-5614-4826-8cde-eb7ecefb8101 505bcff2-103a-4183-80cd-203ae6a5a31c 5 68565064 68565064 G C SNP CDK7 ENST00000256443 human ensembl 69_37n +1 known missense c.658 p.D220H 1.000 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_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 CDK7 HGNC ENSG00000134058 301 0 0.00 250 31 11.03 - - - CNTN1 0 genome.wustl.edu 37 12 41337803 41337803 + Missense_Mutation SNP C C T TCGA-BH-A0DI-01A-21D-A12Q-09 TCGA-BH-A0DI-11A-32D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3777748c-5614-4826-8cde-eb7ecefb8101 505bcff2-103a-4183-80cd-203ae6a5a31c 12 41337803 41337803 C T SNP CNTN1 ENST00000347616 human ensembl 69_37n +1 known missense c.1514 p.T505M 1.000 pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CNTN1 HGNC ENSG00000018236 217 0 0.00 157 24 13.26 - - - CTAGE8 0 genome.wustl.edu 37 7 143965405 143965405 + Silent SNP T T A TCGA-BH-A0DI-01A-21D-A12Q-09 TCGA-BH-A0DI-11A-32D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3777748c-5614-4826-8cde-eb7ecefb8101 505bcff2-103a-4183-80cd-203ae6a5a31c 7 143965405 143965405 T A SNP CTAGE8 ENST00000487179 human ensembl 69_37n -1 known silent c.939 p.G313 0.056 NULL NULL - no_errors CTAGE8 HGNC ENSG00000244693 8 0 0.00 4 7 63.64 - - - EGF 0 genome.wustl.edu 37 4 110882135 110882135 + Silent SNP A A G TCGA-BH-A0DI-01A-21D-A12Q-09 TCGA-BH-A0DI-11A-32D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3777748c-5614-4826-8cde-eb7ecefb8101 505bcff2-103a-4183-80cd-203ae6a5a31c 4 110882135 110882135 A G SNP EGF ENST00000265171 human ensembl 69_37n +1 known silent c.1179 p.K393 1.000 pirsf_Pro-epidermal_GF,pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like pirsf_Pro-epidermal_GF,pfam_LDLR_classB_rpt,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,smart_LDLR_classB_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt - no_errors EGF HGNC ENSG00000138798 581 0 0.00 469 94 16.64 - - - FGD4 0 genome.wustl.edu 37 12 32791747 32791747 + Silent SNP G G A TCGA-BH-A0DI-01A-21D-A12Q-09 TCGA-BH-A0DI-11A-32D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3777748c-5614-4826-8cde-eb7ecefb8101 505bcff2-103a-4183-80cd-203ae6a5a31c 12 32791747 32791747 G A SNP FGD4 ENST00000266482 human ensembl 69_37n +1 known silent c.1317 p.L439 0.000 NULL pfam_DH-domain,pfam_Znf_FYVE,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD4 HGNC ENSG00000139132 227 0 0.00 168 34 16.83 - - - FGF3 0 genome.wustl.edu 37 11 69625120 69625120 + Missense_Mutation SNP C C T TCGA-BH-A0DI-01A-21D-A12Q-09 TCGA-BH-A0DI-11A-32D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3777748c-5614-4826-8cde-eb7ecefb8101 505bcff2-103a-4183-80cd-203ae6a5a31c 11 69625120 69625120 C T SNP FGF3 ENST00000334134 human ensembl 69_37n -1 known missense c.673 p.V225I 0.000 NULL pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd,prints_IL1_HBGF - no_errors FGF3 HGNC ENSG00000186895 9 0 0.00 3 28 90.32 - - - FLJ10661 0 genome.wustl.edu 37 8 8088411 8088411 + RNA SNP A A G TCGA-BH-A0DI-01A-21D-A12Q-09 TCGA-BH-A0DI-11A-32D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3777748c-5614-4826-8cde-eb7ecefb8101 505bcff2-103a-4183-80cd-203ae6a5a31c 8 8088411 8088411 A G SNP FLJ10661 ENST00000522601 human ensembl 69_37n +1 known rna NULL NULL 0.976 - - - no_errors RP11-556O5.3 Clone_based_vega_gene ENSG00000173295 49 0 0.00 24 4 14.29 - - - GALNTL1 0 genome.wustl.edu 37 14 69813893 69813893 + Missense_Mutation SNP G G A TCGA-BH-A0DI-01A-21D-A12Q-09 TCGA-BH-A0DI-11A-32D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3777748c-5614-4826-8cde-eb7ecefb8101 505bcff2-103a-4183-80cd-203ae6a5a31c 14 69813893 69813893 G A SNP GALNTL1 ENST00000337827 human ensembl 69_37n +1 known missense c.1408 p.A470T 0.007 pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNTL1 HGNC ENSG00000100626 51 0 0.00 40 11 21.57 - - - GPSM2 0 genome.wustl.edu 37 1 109440722 109440722 + Nonsense_Mutation SNP G G T TCGA-BH-A0DI-01A-21D-A12Q-09 TCGA-BH-A0DI-11A-32D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3777748c-5614-4826-8cde-eb7ecefb8101 505bcff2-103a-4183-80cd-203ae6a5a31c 1 109440722 109440722 G T SNP GPSM2 ENST00000264126 human ensembl 69_37n +1 known nonsense c.556 p.E186* 1.000 smart_TPR_repeat pfam_GoLoco_motif,pfam_TPR-1,pfam_TPR-4,smart_TPR_repeat,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors GPSM2 HGNC ENSG00000121957 167 0 0.00 142 21 12.88 - - - HMCN1 0 genome.wustl.edu 37 1 186024579 186024579 + Missense_Mutation SNP G G C TCGA-BH-A0DI-01A-21D-A12Q-09 TCGA-BH-A0DI-11A-32D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3777748c-5614-4826-8cde-eb7ecefb8101 505bcff2-103a-4183-80cd-203ae6a5a31c 1 186024579 186024579 G C SNP HMCN1 ENST00000271588 human ensembl 69_37n +1 known missense c.6917 p.R2306P 0.999 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like - no_errors HMCN1 HGNC ENSG00000143341 108 0 0.00 85 11 11.46 - - - HMMR 0 genome.wustl.edu 37 5 162910044 162910044 + Silent SNP G G A TCGA-BH-A0DI-01A-21D-A12Q-09 TCGA-BH-A0DI-11A-32D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3777748c-5614-4826-8cde-eb7ecefb8101 505bcff2-103a-4183-80cd-203ae6a5a31c 5 162910044 162910044 G A SNP HMMR ENST00000393915 human ensembl 69_37n +1 known silent c.1551 p.Q517 0.988 NULL NULL - no_errors HMMR HGNC ENSG00000072571 41 0 0.00 38 12 24.00 - - - HNRNPUL1 0 genome.wustl.edu 37 19 41811663 41811663 + Missense_Mutation SNP C C A TCGA-BH-A0DI-01A-21D-A12Q-09 TCGA-BH-A0DI-11A-32D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3777748c-5614-4826-8cde-eb7ecefb8101 505bcff2-103a-4183-80cd-203ae6a5a31c 19 41811663 41811663 C A SNP HNRNPUL1 ENST00000392006 human ensembl 69_37n +1 known missense c.2345 p.P782H 1.000 NULL pfam_SPRY_rcpt,pfam_SAP_DNA-bd,superfamily_ConA-like_lec_gl,smart_SAP_DNA-bd,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_DNA-bd - no_errors HNRNPUL1 HGNC ENSG00000105323 172 0 0.00 132 31 19.02 - - - INPP5B 0 genome.wustl.edu 37 1 38354001 38354001 + Silent SNP T T C TCGA-BH-A0DI-01A-21D-A12Q-09 TCGA-BH-A0DI-11A-32D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3777748c-5614-4826-8cde-eb7ecefb8101 505bcff2-103a-4183-80cd-203ae6a5a31c 1 38354001 38354001 T C SNP INPP5B ENST00000373023 human ensembl 69_37n -1 known silent c.1053 p.T351 0.685 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Endo/exonuclease/phosphatase,pfam_RhoGAP_dom,superfamily_Endo/exonuclease/phosphatase,superfamily_Rho_GTPase_activation_prot,smart_IPPc,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors INPP5B HGNC ENSG00000204084 119 0 0.00 93 17 15.45 - - - KGFLP2 0 genome.wustl.edu 37 9 41962384 41962384 + RNA SNP T T C TCGA-BH-A0DI-01A-21D-A12Q-09 TCGA-BH-A0DI-11A-32D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3777748c-5614-4826-8cde-eb7ecefb8101 505bcff2-103a-4183-80cd-203ae6a5a31c 9 41962384 41962384 T C SNP KGFLP2 ENST00000454645 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors RP11-204M4.2 Clone_based_vega_gene ENSG00000204837 11 0 0.00 2 3 60.00 - - - LDLR 0 genome.wustl.edu 37 19 11221353 11221353 + Missense_Mutation SNP C C T TCGA-BH-A0DI-01A-21D-A12Q-09 TCGA-BH-A0DI-11A-32D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3777748c-5614-4826-8cde-eb7ecefb8101 505bcff2-103a-4183-80cd-203ae6a5a31c 19 11221353 11221353 C T SNP LDLR ENST00000252444 human ensembl 69_37n +1 putative missense c.1220 p.T407M 0.266 superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_Ca-bd,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region LDLR HGNC ENSG00000130164 68 0 0.00 39 7 15.22 - - - MYO19 0 genome.wustl.edu 37 17 34863744 34863744 + Silent SNP T T C TCGA-BH-A0DI-01A-21D-A12Q-09 TCGA-BH-A0DI-11A-32D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3777748c-5614-4826-8cde-eb7ecefb8101 505bcff2-103a-4183-80cd-203ae6a5a31c 17 34863744 34863744 T C SNP MYO19 ENST00000431794 human ensembl 69_37n -1 known silent c.1251 p.G417 0.999 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYO19 HGNC ENSG00000141140 128 0 0.00 109 33 23.24 - - - OR8K1 0 genome.wustl.edu 37 11 56114328 56114328 + Missense_Mutation SNP C C T TCGA-BH-A0DI-01A-21D-A12Q-09 TCGA-BH-A0DI-11A-32D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3777748c-5614-4826-8cde-eb7ecefb8101 505bcff2-103a-4183-80cd-203ae6a5a31c 11 56114328 56114328 C T SNP OR8K1 ENST00000279783 human ensembl 69_37n +1 known missense c.814 p.H272Y 0.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR8K1 HGNC ENSG00000150261 183 0 0.00 180 106 36.93 - - - P2RY13 0 genome.wustl.edu 37 3 151047297 151047297 + Missense_Mutation SNP C C G TCGA-BH-A0DI-01A-21D-A12Q-09 TCGA-BH-A0DI-11A-32D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3777748c-5614-4826-8cde-eb7ecefb8101 505bcff2-103a-4183-80cd-203ae6a5a31c 3 151047297 151047297 C G SNP P2RY13 ENST00000325602 human ensembl 69_37n -1 known missense c.20 p.R7T 0.285 NULL pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_supfam,prints_P2Y13_purnocptor,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor,prints_UDPG_rcpt - no_errors P2RY13 HGNC ENSG00000181631 385 0 0.00 275 51 15.64 - - - PDCD11 0 genome.wustl.edu 37 10 105181309 105181309 + Missense_Mutation SNP C C G TCGA-BH-A0DI-01A-21D-A12Q-09 TCGA-BH-A0DI-11A-32D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3777748c-5614-4826-8cde-eb7ecefb8101 505bcff2-103a-4183-80cd-203ae6a5a31c 10 105181309 105181309 C G SNP PDCD11 ENST00000369797 human ensembl 69_37n +1 known missense c.2482 p.L828V 1.000 superfamily_NA-bd_OB-fold-like pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Suf,superfamily_NA-bd_OB-fold-like,smart_RNA-binding_domain_S1,smart_HAT,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,prints_Ribosomal_S1 - no_errors PDCD11 HGNC ENSG00000148843 43 0 0.00 32 12 27.27 - - - PDCL2 0 genome.wustl.edu 37 4 56428697 56428697 + Missense_Mutation SNP C C T TCGA-BH-A0DI-01A-21D-A12Q-09 TCGA-BH-A0DI-11A-32D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3777748c-5614-4826-8cde-eb7ecefb8101 505bcff2-103a-4183-80cd-203ae6a5a31c 4 56428697 56428697 C T SNP PDCL2 ENST00000295645 human ensembl 69_37n -1 known missense c.445 p.V149M 1.000 pfam_Phosducin_thioredoxin-like_dom,superfamily_Thioredoxin-like_fold pfam_Phosducin_thioredoxin-like_dom,superfamily_Thioredoxin-like_fold - no_errors PDCL2 HGNC ENSG00000163440 189 0 0.00 124 23 15.65 - - - PHTF2 0 genome.wustl.edu 37 7 77569914 77569914 + Missense_Mutation SNP C C T TCGA-BH-A0DI-01A-21D-A12Q-09 TCGA-BH-A0DI-11A-32D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3777748c-5614-4826-8cde-eb7ecefb8101 505bcff2-103a-4183-80cd-203ae6a5a31c 7 77569914 77569914 C T SNP PHTF2 ENST00000248550 human ensembl 69_37n +1 known missense c.1810 p.H604Y 1.000 NULL pfam_TF_homeodomain_male - no_errors PHTF2 HGNC ENSG00000006576 373 0 0.00 259 39 13.09 - - - PIK3IP1 0 genome.wustl.edu 37 22 31685334 31685334 + Missense_Mutation SNP C C T TCGA-BH-A0DI-01A-21D-A12Q-09 TCGA-BH-A0DI-11A-32D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3777748c-5614-4826-8cde-eb7ecefb8101 505bcff2-103a-4183-80cd-203ae6a5a31c 22 31685334 31685334 C T SNP PIK3IP1 ENST00000215912 human ensembl 69_37n -1 known missense c.554 p.G185E 1.000 NULL pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle - no_errors PIK3IP1 HGNC ENSG00000100100 66 0 0.00 34 9 20.93 - - - PRMT8 0 genome.wustl.edu 37 12 3702343 3702343 + Missense_Mutation SNP C C T TCGA-BH-A0DI-01A-21D-A12Q-09 TCGA-BH-A0DI-11A-32D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3777748c-5614-4826-8cde-eb7ecefb8101 505bcff2-103a-4183-80cd-203ae6a5a31c 12 3702343 3702343 C T SNP PRMT8 ENST00000382622 human ensembl 69_37n +1 known missense c.1180 p.R394C 1.000 NULL pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Arg_MeTrfase,pfam_Methyltransf_11,pfam_tRNA_Trfase_Trm5/Tyw2 - no_errors PRMT8 HGNC ENSG00000111218 145 0 0.00 129 17 11.49 - - - SLC6A3 0 genome.wustl.edu 37 5 1414821 1414821 + Missense_Mutation SNP C C A TCGA-BH-A0DI-01A-21D-A12Q-09 TCGA-BH-A0DI-11A-32D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3777748c-5614-4826-8cde-eb7ecefb8101 505bcff2-103a-4183-80cd-203ae6a5a31c 5 1414821 1414821 C A SNP SLC6A3 ENST00000270349 human ensembl 69_37n -1 known missense c.1141 p.D381Y 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_dopamine - no_errors SLC6A3 HGNC ENSG00000142319 52 0 0.00 34 7 17.07 - - - TP53 0 genome.wustl.edu 37 17 7577517 7577517 + Missense_Mutation SNP A A T TCGA-BH-A0DI-01A-21D-A12Q-09 TCGA-BH-A0DI-11A-32D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3777748c-5614-4826-8cde-eb7ecefb8101 505bcff2-103a-4183-80cd-203ae6a5a31c 17 7577517 7577517 A T SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.764 p.I255N 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 118 0 0.00 71 20 21.74 - - - TRO 0 genome.wustl.edu 37 X 54950989 54950989 + Splice_Site SNP G G T TCGA-BH-A0DI-01A-21D-A12Q-09 TCGA-BH-A0DI-11A-32D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3777748c-5614-4826-8cde-eb7ecefb8101 505bcff2-103a-4183-80cd-203ae6a5a31c X 54950989 54950989 G T SNP TRO ENST00000173898 human ensembl 69_37n +1 known splice_site c.1341+1 e3+1 0.998 - - - no_errors TRO HGNC ENSG00000067445 261 0 0.00 170 28 14.14 - - - ZNF483 0 genome.wustl.edu 37 9 114305275 114305275 + Missense_Mutation SNP G G C TCGA-BH-A0DI-01A-21D-A12Q-09 TCGA-BH-A0DI-11A-32D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3777748c-5614-4826-8cde-eb7ecefb8101 505bcff2-103a-4183-80cd-203ae6a5a31c 9 114305275 114305275 G C SNP ZNF483 ENST00000309235 human ensembl 69_37n +1 known missense c.2060 p.G687A 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF483 HGNC ENSG00000173258 159 1 0.62 122 23 15.86 - - - ZNF93 0 genome.wustl.edu 37 19 20045077 20045077 + Nonsense_Mutation SNP C C G TCGA-BH-A0DI-01A-21D-A12Q-09 TCGA-BH-A0DI-11A-32D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3777748c-5614-4826-8cde-eb7ecefb8101 505bcff2-103a-4183-80cd-203ae6a5a31c 19 20045077 20045077 C G SNP ZNF93 ENST00000343769 human ensembl 69_37n +1 known nonsense c.1313 p.S438* 0.001 smart_Znf_C2H2-like,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 ZNF93 HGNC ENSG00000184635 121 0 0.00 110 20 15.38 - - -