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 ADAMTS3 0 genome.wustl.edu 37 4 73179510 73179510 + Silent SNP C C T TCGA-A8-A0A9-01A-11W-A019-09 TCGA-A8-A0A9-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 228e66eb-1dc6-4c01-8252-c557a8f53916 80968de5-1de3-4be8-8697-1764f28db89f 4 73179510 73179510 C T SNP ADAMTS3 ENST00000286657 human ensembl 69_37n -1 known silent c.1629 p.K543 1.000 NULL pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS3 HGNC ENSG00000156140 155 0 0.00 88 15 14.56 - - - AKD1 0 genome.wustl.edu 37 6 109820405 109820405 + Nonsense_Mutation SNP G G A TCGA-A8-A0A9-01A-11W-A019-09 TCGA-A8-A0A9-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 228e66eb-1dc6-4c01-8252-c557a8f53916 80968de5-1de3-4be8-8697-1764f28db89f 6 109820405 109820405 G A SNP AKD1 ENST00000424296 human ensembl 69_37n -1 known nonsense c.4888 p.Q1630* 0.101 NULL pfam_Adenylate_kin,pfam_YHS,smart_AAA+_ATPase - no_errors AKD1 HGNC ENSG00000155085 96 0 0.00 44 21 32.31 - - - APOH 0 genome.wustl.edu 37 17 64210602 64210602 + Missense_Mutation SNP A A T TCGA-A8-A0A9-01A-11W-A019-09 TCGA-A8-A0A9-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 228e66eb-1dc6-4c01-8252-c557a8f53916 80968de5-1de3-4be8-8697-1764f28db89f 17 64210602 64210602 A T SNP APOH ENST00000205948 human ensembl 69_37n -1 known missense c.951 p.D317E 0.688 pfam_Sushi_2,superfamily_Complement_control_module pfam_Sushi_SCR_CCP,pfam_Sushi_2,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors APOH HGNC ENSG00000091583 175 0 0.00 70 149 68.04 - - - ARHGAP21 0 genome.wustl.edu 37 10 24874774 24874774 + Missense_Mutation SNP C C G TCGA-A8-A0A9-01A-11W-A019-09 TCGA-A8-A0A9-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 228e66eb-1dc6-4c01-8252-c557a8f53916 80968de5-1de3-4be8-8697-1764f28db89f 10 24874774 24874774 C G SNP ARHGAP21 ENST00000396432 human ensembl 69_37n -1 known missense c.4444 p.D1482H 0.008 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP21 HGNC ENSG00000107863 560 0 0.00 205 133 39.35 - - - ATF4 0 genome.wustl.edu 37 22 39917950 39917951 + Frame_Shift_Ins INS - - C TCGA-A8-A0A9-01A-11W-A019-09 TCGA-A8-A0A9-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 228e66eb-1dc6-4c01-8252-c557a8f53916 80968de5-1de3-4be8-8697-1764f28db89f 22 39917950 39917951 - C INS ATF4 ENST00000337304 human ensembl 69_37n +1 known frame_shift_ins c.399_400 p.Q135fs 0.452:0.485 NULL pfam_bZIP_1,pfam_bZIP_2,smart_bZIP,pfscan_bZIP - no_errors ATF4 HGNC ENSG00000128272 137 0 0.00 27 3 10.00 - - - BBX 0 genome.wustl.edu 37 3 107429348 107429348 + Missense_Mutation SNP G G C TCGA-A8-A0A9-01A-11W-A019-09 TCGA-A8-A0A9-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 228e66eb-1dc6-4c01-8252-c557a8f53916 80968de5-1de3-4be8-8697-1764f28db89f 3 107429348 107429348 G C SNP BBX ENST00000325805 human ensembl 69_37n +1 known missense c.41 p.G14A 1.000 NULL pfam_TF_HMG_box_BBX_DUF2028,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors BBX HGNC ENSG00000114439 529 0 0.00 207 96 31.68 - - - CCDC66 0 genome.wustl.edu 37 3 56605211 56605211 + Missense_Mutation SNP G G C TCGA-A8-A0A9-01A-11W-A019-09 TCGA-A8-A0A9-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 228e66eb-1dc6-4c01-8252-c557a8f53916 80968de5-1de3-4be8-8697-1764f28db89f 3 56605211 56605211 G C SNP CCDC66 ENST00000394672 human ensembl 69_37n +1 known missense c.817 p.E273Q 1.000 NULL NULL - no_errors CCDC66 HGNC ENSG00000180376 49 0 0.00 53 31 36.90 - - - CD300LG 0 genome.wustl.edu 37 17 41931337 41931338 + Frame_Shift_Ins INS - - C TCGA-A8-A0A9-01A-11W-A019-09 TCGA-A8-A0A9-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 228e66eb-1dc6-4c01-8252-c557a8f53916 80968de5-1de3-4be8-8697-1764f28db89f 17 41931337 41931338 - C INS CD300LG ENST00000317310 human ensembl 69_37n +1 known frame_shift_ins c.644_645 p.M218fs 0.000:0.000 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like - no_errors CD300LG HGNC ENSG00000161649 28 0 0.00 31 5 13.89 - - - CDH1 0 genome.wustl.edu 37 16 68849604 68849604 + Nonsense_Mutation SNP C C T TCGA-A8-A0A9-01A-11W-A019-09 TCGA-A8-A0A9-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 228e66eb-1dc6-4c01-8252-c557a8f53916 80968de5-1de3-4be8-8697-1764f28db89f 16 68849604 68849604 C T SNP CDH1 ENST00000261769 human ensembl 69_37n +1 known nonsense c.1507 p.Q503* 0.003 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH1 HGNC ENSG00000039068 267 0 0.00 48 132 72.93 - - - CNTROB 0 genome.wustl.edu 37 17 7843471 7843471 + Missense_Mutation SNP G G T TCGA-A8-A0A9-01A-11W-A019-09 TCGA-A8-A0A9-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 228e66eb-1dc6-4c01-8252-c557a8f53916 80968de5-1de3-4be8-8697-1764f28db89f 17 7843471 7843471 G T SNP CNTROB ENST00000380262 human ensembl 69_37n +1 known missense c.1222 p.V408L 0.629 NULL NULL - no_errors CNTROB HGNC ENSG00000170037 90 0 0.00 37 32 45.71 - - - COL24A1 0 genome.wustl.edu 37 1 86578258 86578258 + Missense_Mutation SNP C C A TCGA-A8-A0A9-01A-11W-A019-09 TCGA-A8-A0A9-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 228e66eb-1dc6-4c01-8252-c557a8f53916 80968de5-1de3-4be8-8697-1764f28db89f 1 86578258 86578258 C A SNP COL24A1 ENST00000370571 human ensembl 69_37n -1 known missense c.1591 p.G531C 1.000 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL24A1 HGNC ENSG00000171502 96 0 0.00 20 14 41.18 - - - COL8A1 0 genome.wustl.edu 37 3 99514533 99514534 + Frame_Shift_Ins INS - - C TCGA-A8-A0A9-01A-11W-A019-09 TCGA-A8-A0A9-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 228e66eb-1dc6-4c01-8252-c557a8f53916 80968de5-1de3-4be8-8697-1764f28db89f 3 99514533 99514534 - C INS COL8A1 ENST00000261037 human ensembl 69_37n +1 known frame_shift_ins c.1788_1789 p.H598fs 0.906:0.314 NULL pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors COL8A1 HGNC ENSG00000144810 50 0 0.00 19 3 13.64 - - - DHX38 0 genome.wustl.edu 37 16 72141353 72141353 + Missense_Mutation SNP C C A TCGA-A8-A0A9-01A-11W-A019-09 TCGA-A8-A0A9-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 228e66eb-1dc6-4c01-8252-c557a8f53916 80968de5-1de3-4be8-8697-1764f28db89f 16 72141353 72141353 C A SNP DHX38 ENST00000268482 human ensembl 69_37n +1 known missense c.2715 p.D905E 1.000 NULL pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX38 HGNC ENSG00000140829 91 0 0.00 21 50 70.42 - - - DLG3 0 genome.wustl.edu 37 X 69671832 69671832 + Silent SNP C C T TCGA-A8-A0A9-01A-11W-A019-09 TCGA-A8-A0A9-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 228e66eb-1dc6-4c01-8252-c557a8f53916 80968de5-1de3-4be8-8697-1764f28db89f X 69671832 69671832 C T SNP DLG3 ENST00000194900 human ensembl 69_37n +1 known silent c.1155 p.Y385 1.000 pfam_PDZ_assoc,superfamily_PDZ,pirsf_M-assoc_guanylate_kinase pfam_Guanylate_kin,pfam_PDZ,pfam_PDZ_assoc,pfam_MAGUK_PEST_N,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors DLG3 HGNC ENSG00000082458 34 0 0.00 1 4 80.00 - - - EPHB4 0 genome.wustl.edu 37 7 100410501 100410501 + Silent SNP C C T TCGA-A8-A0A9-01A-11W-A019-09 TCGA-A8-A0A9-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 228e66eb-1dc6-4c01-8252-c557a8f53916 80968de5-1de3-4be8-8697-1764f28db89f 7 100410501 100410501 C T SNP EPHB4 ENST00000358173 human ensembl 69_37n -1 known silent c.1986 p.L662 1.000 pirsf_Tyr_kinase_ephrin_rcpt,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 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom - no_errors EPHB4 HGNC ENSG00000196411 40 0 0.00 17 9 34.62 - - - FAM86C2P 0 genome.wustl.edu 37 11 67560517 67560517 + RNA SNP T T C TCGA-A8-A0A9-01A-11W-A019-09 TCGA-A8-A0A9-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 228e66eb-1dc6-4c01-8252-c557a8f53916 80968de5-1de3-4be8-8697-1764f28db89f 11 67560517 67560517 T C SNP FAM86C2P ENST00000528089 human ensembl 69_37n -1 known rna NULL NULL 0.004 - - - no_errors FAM86C2P HGNC ENSG00000160172 33 0 0.00 29 4 12.12 - - - FBXO18 0 genome.wustl.edu 37 10 5945069 5945069 + Nonsense_Mutation SNP C C T TCGA-A8-A0A9-01A-11W-A019-09 TCGA-A8-A0A9-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 228e66eb-1dc6-4c01-8252-c557a8f53916 80968de5-1de3-4be8-8697-1764f28db89f 10 5945069 5945069 C T SNP FBXO18 ENST00000379999 human ensembl 69_37n +1 known nonsense c.241 p.Q81* 0.989 NULL pfam_UvrD-like_ATP-bd,pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXO18 HGNC ENSG00000134452 38 0 0.00 28 18 39.13 - - - FRA10AC1 0 genome.wustl.edu 37 10 95459821 95459821 + Missense_Mutation SNP C C G TCGA-A8-A0A9-01A-11W-A019-09 TCGA-A8-A0A9-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 228e66eb-1dc6-4c01-8252-c557a8f53916 80968de5-1de3-4be8-8697-1764f28db89f 10 95459821 95459821 C G SNP FRA10AC1 ENST00000359204 human ensembl 69_37n -1 known missense c.43 p.E15Q 1.000 NULL pfam_Folate-sensitive_fs_Fra10Ac1 - no_errors FRA10AC1 HGNC ENSG00000148690 131 0 0.00 34 22 37.93 - - - FRMD4A 0 genome.wustl.edu 37 10 13702348 13702350 + In_Frame_Del DEL CTT CTT - TCGA-A8-A0A9-01A-11W-A019-09 TCGA-A8-A0A9-10A-01W-A021-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 228e66eb-1dc6-4c01-8252-c557a8f53916 80968de5-1de3-4be8-8697-1764f28db89f 10 13702348 13702350 CTT - DEL FRMD4A ENST00000357447 human ensembl 69_37n -1 known in_frame_del c.1866_1864 p.K622in_frame_del 1.000:1.000:1.000 NULL pfam_DUF3338,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam - no_errors FRMD4A HGNC ENSG00000151474 21 0 0.00 4 7 63.64 - - - GPC3 0 genome.wustl.edu 37 X 132887945 132887945 + Missense_Mutation SNP C C T TCGA-A8-A0A9-01A-11W-A019-09 TCGA-A8-A0A9-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 228e66eb-1dc6-4c01-8252-c557a8f53916 80968de5-1de3-4be8-8697-1764f28db89f X 132887945 132887945 C T SNP GPC3 ENST00000394299 human ensembl 69_37n -1 known missense c.596 p.R199Q 1.000 pfam_Glypican pfam_Glypican - no_errors GPC3 HGNC ENSG00000147257 493 0 0.00 53 131 71.20 - - - GRIN3A 0 genome.wustl.edu 37 9 104335778 104335778 + Missense_Mutation SNP C C T TCGA-A8-A0A9-01A-11W-A019-09 TCGA-A8-A0A9-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 228e66eb-1dc6-4c01-8252-c557a8f53916 80968de5-1de3-4be8-8697-1764f28db89f 9 104335778 104335778 C T SNP GRIN3A ENST00000361820 human ensembl 69_37n -1 known missense c.3026 p.R1009H 0.922 NULL pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,prints_NMDA_rcpt - no_errors GRIN3A HGNC ENSG00000198785 137 0 0.00 71 16 18.39 - - - GTF3C4 0 genome.wustl.edu 37 9 135554618 135554618 + Missense_Mutation SNP G G A TCGA-A8-A0A9-01A-11W-A019-09 TCGA-A8-A0A9-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 228e66eb-1dc6-4c01-8252-c557a8f53916 80968de5-1de3-4be8-8697-1764f28db89f 9 135554618 135554618 G A SNP GTF3C4 ENST00000372146 human ensembl 69_37n +1 known missense c.1612 p.D538N 1.000 NULL superfamily_WD40_repeat_dom - no_errors GTF3C4 HGNC ENSG00000125484 151 0 0.00 45 32 41.56 - - - HIST1H2AH 0 genome.wustl.edu 37 6 27115249 27115249 + Silent SNP C C G TCGA-A8-A0A9-01A-11W-A019-09 TCGA-A8-A0A9-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 228e66eb-1dc6-4c01-8252-c557a8f53916 80968de5-1de3-4be8-8697-1764f28db89f 6 27115249 27115249 C G SNP HIST1H2AH ENST00000377459 human ensembl 69_37n +1 known silent c.342 p.A114 1.000 superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AH HGNC ENSG00000184825 87 0 0.00 45 25 35.71 - - - INHBA 0 genome.wustl.edu 37 7 41739757 41739757 + Silent SNP G G C TCGA-A8-A0A9-01A-11W-A019-09 TCGA-A8-A0A9-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 228e66eb-1dc6-4c01-8252-c557a8f53916 80968de5-1de3-4be8-8697-1764f28db89f 7 41739757 41739757 G C SNP INHBA ENST00000242208 human ensembl 69_37n -1 known silent c.216 p.P72 1.000 pfam_TGF-b_N,prints_Inhibin_betaA pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaA,prints_Inhibin_asu - no_errors INHBA HGNC ENSG00000122641 216 0 0.00 157 54 25.59 - - - ITGAE 0 genome.wustl.edu 37 17 3656666 3656666 + Missense_Mutation SNP G G A TCGA-A8-A0A9-01A-11W-A019-09 TCGA-A8-A0A9-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 228e66eb-1dc6-4c01-8252-c557a8f53916 80968de5-1de3-4be8-8697-1764f28db89f 17 3656666 3656666 G A SNP ITGAE ENST00000263087 human ensembl 69_37n -1 known missense c.1586 p.T529M 0.987 smart_Int_alpha_beta-p pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_VWF_A,smart_Int_alpha_beta-p,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAE HGNC ENSG00000083457 103 0 0.00 33 7 17.50 - - - KCNB2 0 genome.wustl.edu 37 8 73848282 73848282 + Missense_Mutation SNP G G A TCGA-A8-A0A9-01A-11W-A019-09 TCGA-A8-A0A9-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 228e66eb-1dc6-4c01-8252-c557a8f53916 80968de5-1de3-4be8-8697-1764f28db89f 8 73848282 73848282 G A SNP KCNB2 ENST00000523207 human ensembl 69_37n +1 known missense c.692 p.R231H 0.368 NULL pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.2,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8 - no_errors KCNB2 HGNC ENSG00000182674 274 0 0.00 136 93 40.61 - - - LAMB3 0 genome.wustl.edu 37 1 209790887 209790887 + Missense_Mutation SNP C C T TCGA-A8-A0A9-01A-11W-A019-09 TCGA-A8-A0A9-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 228e66eb-1dc6-4c01-8252-c557a8f53916 80968de5-1de3-4be8-8697-1764f28db89f 1 209790887 209790887 C T SNP LAMB3 ENST00000356082 human ensembl 69_37n -1 known missense c.3096 p.M1032I 0.983 NULL pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB3 HGNC ENSG00000196878 44 0 0.00 62 15 19.48 - - - MIR521-2 0 genome.wustl.edu 37 19 54219912 54219912 + RNA SNP C C T TCGA-A8-A0A9-01A-11W-A019-09 TCGA-A8-A0A9-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 228e66eb-1dc6-4c01-8252-c557a8f53916 80968de5-1de3-4be8-8697-1764f28db89f 19 54219912 54219912 C T SNP MIR521-2 ENST00000384818 human ensembl 69_37n +1 known rna NULL NULL 0.085 - - - no_errors MIR521-2 HGNC ENSG00000207549 177 0 0.00 168 73 30.29 - - - MKL1 0 genome.wustl.edu 37 22 40859267 40859267 + Missense_Mutation SNP G G A TCGA-A8-A0A9-01A-11W-A019-09 TCGA-A8-A0A9-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 228e66eb-1dc6-4c01-8252-c557a8f53916 80968de5-1de3-4be8-8697-1764f28db89f 22 40859267 40859267 G A SNP MKL1 ENST00000422851 human ensembl 69_37n -1 putative missense c.46 p.R16C 1.000 pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat - no_stop_codon:bad_bp_length_for_coding_region MKL1 HGNC ENSG00000196588 390 0 0.00 203 48 19.12 - - - MUC16 0 genome.wustl.edu 37 19 9086614 9086614 + Missense_Mutation SNP G G T TCGA-A8-A0A9-01A-11W-A019-09 TCGA-A8-A0A9-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 228e66eb-1dc6-4c01-8252-c557a8f53916 80968de5-1de3-4be8-8697-1764f28db89f 19 9086614 9086614 G T SNP MUC16 ENST00000397910 human ensembl 69_37n -1 known missense c.5201 p.S1734Y 0.001 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 373 0 0.00 287 86 23.06 - - - PARVA 0 genome.wustl.edu 37 11 12495366 12495366 + Missense_Mutation SNP G G A TCGA-A8-A0A9-01A-11W-A019-09 TCGA-A8-A0A9-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 228e66eb-1dc6-4c01-8252-c557a8f53916 80968de5-1de3-4be8-8697-1764f28db89f 11 12495366 12495366 G A SNP PARVA ENST00000334956 human ensembl 69_37n +1 known missense c.331 p.E111K 1.000 superfamily_CH-domain pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors PARVA HGNC ENSG00000197702 25 0 0.00 15 10 40.00 - - - PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G TCGA-A8-A0A9-01A-11W-A019-09 TCGA-A8-A0A9-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 228e66eb-1dc6-4c01-8252-c557a8f53916 80968de5-1de3-4be8-8697-1764f28db89f 3 178952085 178952085 A G SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.3140 p.H1047R 1.000 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_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 ENSG00000121879 176 0 0.00 89 68 43.31 - - - PRRC2C 0 genome.wustl.edu 37 1 171482185 171482185 + Missense_Mutation SNP G G A TCGA-A8-A0A9-01A-11W-A019-09 TCGA-A8-A0A9-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 228e66eb-1dc6-4c01-8252-c557a8f53916 80968de5-1de3-4be8-8697-1764f28db89f 1 171482185 171482185 G A SNP PRRC2C ENST00000392078 human ensembl 69_37n +1 known missense c.164 p.R55H 1.000 pfam_BAT2_N pfam_BAT2_N - no_errors PRRC2C HGNC ENSG00000117523 227 1 0.44 241 31 11.40 - - - PRTG 0 genome.wustl.edu 37 15 55932020 55932020 + Missense_Mutation SNP C C T TCGA-A8-A0A9-01A-11W-A019-09 TCGA-A8-A0A9-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 228e66eb-1dc6-4c01-8252-c557a8f53916 80968de5-1de3-4be8-8697-1764f28db89f 15 55932020 55932020 C T SNP PRTG ENST00000389286 human ensembl 69_37n -1 known missense c.2144 p.R715H 0.988 superfamily_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors PRTG HGNC ENSG00000166450 66 0 0.00 74 13 14.94 - - - PTK7 0 genome.wustl.edu 37 6 43111207 43111207 + Missense_Mutation SNP G G T TCGA-A8-A0A9-01A-11W-A019-09 TCGA-A8-A0A9-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 228e66eb-1dc6-4c01-8252-c557a8f53916 80968de5-1de3-4be8-8697-1764f28db89f 6 43111207 43111207 G T SNP PTK7 ENST00000230419 human ensembl 69_37n +1 known missense c.2100 p.K700N 1.000 NULL pfam_Ig_I-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Immunoglobulin,pfam_Prot_kinase_cat_dom,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors PTK7 HGNC ENSG00000112655 43 0 0.00 18 12 40.00 - - - PVALB 0 genome.wustl.edu 37 22 37209714 37209714 + Missense_Mutation SNP C C T TCGA-A8-A0A9-01A-11W-A019-09 TCGA-A8-A0A9-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 228e66eb-1dc6-4c01-8252-c557a8f53916 80968de5-1de3-4be8-8697-1764f28db89f 22 37209714 37209714 C T SNP PVALB ENST00000216200 human ensembl 69_37n -1 known missense c.280 p.G94R 1.000 smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Parvalbumin pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Parvalbumin - no_errors PVALB HGNC ENSG00000100362 81 0 0.00 11 16 59.26 - - - QSER1 0 genome.wustl.edu 37 11 32955992 32955992 + Missense_Mutation SNP C C T TCGA-A8-A0A9-01A-11W-A019-09 TCGA-A8-A0A9-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 228e66eb-1dc6-4c01-8252-c557a8f53916 80968de5-1de3-4be8-8697-1764f28db89f 11 32955992 32955992 C T SNP QSER1 ENST00000399302 human ensembl 69_37n +1 known missense c.2801 p.P934L 0.138 NULL NULL - no_errors QSER1 HGNC ENSG00000060749 202 0 0.00 68 57 45.60 - - - RASGRF1 0 genome.wustl.edu 37 15 79298692 79298692 + Silent SNP G G A TCGA-A8-A0A9-01A-11W-A019-09 TCGA-A8-A0A9-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 228e66eb-1dc6-4c01-8252-c557a8f53916 80968de5-1de3-4be8-8697-1764f28db89f 15 79298692 79298692 G A SNP RASGRF1 ENST00000419573 human ensembl 69_37n -1 known silent c.1950 p.Y650 0.959 pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRF1 HGNC ENSG00000058335 36 0 0.00 19 14 42.42 - - - SBNO1 0 genome.wustl.edu 37 12 123812064 123812064 + Missense_Mutation SNP C C T TCGA-A8-A0A9-01A-11W-A019-09 TCGA-A8-A0A9-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 228e66eb-1dc6-4c01-8252-c557a8f53916 80968de5-1de3-4be8-8697-1764f28db89f 12 123812064 123812064 C T SNP SBNO1 ENST00000420886 human ensembl 69_37n -1 known missense c.1601 p.R534Q 1.000 NULL pfam_Helicase/UvrB_dom,superfamily_Prismane-like - no_errors SBNO1 HGNC ENSG00000139697 145 0 0.00 13 58 81.69 - - - SLC4A3 0 genome.wustl.edu 37 2 220502412 220502413 + Frame_Shift_Ins INS - - C TCGA-A8-A0A9-01A-11W-A019-09 TCGA-A8-A0A9-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 228e66eb-1dc6-4c01-8252-c557a8f53916 80968de5-1de3-4be8-8697-1764f28db89f 2 220502412 220502413 - C INS SLC4A3 ENST00000273063 human ensembl 69_37n +1 known frame_shift_ins c.2726_2727 p.S912fs 0.018:0.013 pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange_3,prints_Anion_exchange,tigrfam_HCO3_transpt_euk - no_errors SLC4A3 HGNC ENSG00000114923 32 0 0.00 25 7 21.88 - - - SMC1A 0 genome.wustl.edu 37 X 53439190 53439190 + Missense_Mutation SNP C C G TCGA-A8-A0A9-01A-11W-A019-09 TCGA-A8-A0A9-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 228e66eb-1dc6-4c01-8252-c557a8f53916 80968de5-1de3-4be8-8697-1764f28db89f X 53439190 53439190 C G SNP SMC1A ENST00000322213 human ensembl 69_37n -1 known missense c.868 p.E290Q 1.000 pfam_RecF/RecN/SMC pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,smart_SMC_hinge,prints_Tropomyosin - no_errors SMC1A HGNC ENSG00000072501 62 0 0.00 15 33 68.75 - - - ST5 0 genome.wustl.edu 37 11 8732399 8732399 + Missense_Mutation SNP C C T TCGA-A8-A0A9-01A-11W-A019-09 TCGA-A8-A0A9-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 228e66eb-1dc6-4c01-8252-c557a8f53916 80968de5-1de3-4be8-8697-1764f28db89f 11 8732399 8732399 C T SNP ST5 ENST00000313726 human ensembl 69_37n -1 known missense c.2345 p.R782H 1.000 pfam_uDENN_dom,smart_uDENN_dom,pfscan_uDENN_dom pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors ST5 HGNC ENSG00000166444 24 0 0.00 15 4 21.05 - - - TNPO2 0 genome.wustl.edu 37 19 12812575 12812576 + Frame_Shift_Ins INS - - C TCGA-A8-A0A9-01A-11W-A019-09 TCGA-A8-A0A9-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 228e66eb-1dc6-4c01-8252-c557a8f53916 80968de5-1de3-4be8-8697-1764f28db89f 19 12812575 12812576 - C INS TNPO2 ENST00000425528 human ensembl 69_37n -1 known frame_shift_ins c.2502_2501 p.V835fs 0.048:1.000 superfamily_ARM-type_fold pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors TNPO2 HGNC ENSG00000105576 11 0 0.00 8 3 27.27 - - - TRPC1 0 genome.wustl.edu 37 3 142443528 142443528 + Missense_Mutation SNP G G A TCGA-A8-A0A9-01A-11W-A019-09 TCGA-A8-A0A9-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 228e66eb-1dc6-4c01-8252-c557a8f53916 80968de5-1de3-4be8-8697-1764f28db89f 3 142443528 142443528 G A SNP TRPC1 ENST00000476941 human ensembl 69_37n +1 known missense c.127 p.E43K 1.000 prints_TRPC1_channel,tigrfam_TRP_channel pfam_TRP_dom,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC1_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC1 HGNC ENSG00000144935 11 0 0.00 1 4 80.00 - - - TTN 0 genome.wustl.edu 37 2 179522843 179522843 + Missense_Mutation SNP C C T TCGA-A8-A0A9-01A-11W-A019-09 TCGA-A8-A0A9-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 228e66eb-1dc6-4c01-8252-c557a8f53916 80968de5-1de3-4be8-8697-1764f28db89f 2 179522843 179522843 C T SNP TTN ENST00000589042 human ensembl 69_37n -1 putative missense c.37753 p.V12585M 0.000 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_PPAK_motif,pfam_Titin_Z,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,superfamily_ARM-type_fold,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 227 1 0.44 65 54 45.38 - - - UBXN4 0 genome.wustl.edu 37 2 136519446 136519446 + Missense_Mutation SNP G G C TCGA-A8-A0A9-01A-11W-A019-09 TCGA-A8-A0A9-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 228e66eb-1dc6-4c01-8252-c557a8f53916 80968de5-1de3-4be8-8697-1764f28db89f 2 136519446 136519446 G C SNP UBXN4 ENST00000272638 human ensembl 69_37n +1 known missense c.567 p.Q189H 0.982 NULL pfam_UBX,superfamily_Thioredoxin-like_fold,smart_UBX,pfscan_UBX - no_errors UBXN4 HGNC ENSG00000144224 59 0 0.00 32 9 21.95 - - - USP19 0 genome.wustl.edu 37 3 49153206 49153206 + Missense_Mutation SNP C C T TCGA-A8-A0A9-01A-11W-A019-09 TCGA-A8-A0A9-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 228e66eb-1dc6-4c01-8252-c557a8f53916 80968de5-1de3-4be8-8697-1764f28db89f 3 49153206 49153206 C T SNP USP19 ENST00000398888 human ensembl 69_37n -1 known missense c.1334 p.R445H 0.990 pfam_DUF1872 pfam_DUF1872,pfam_Peptidase_C19,pfam_Znf_MYND,pfam_CS_domain,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain,pfscan_Znf_MYND,pfscan_Peptidase_C19 - no_errors USP19 HGNC ENSG00000172046 20 0 0.00 3 7 70.00 - - - ZMYND11 0 genome.wustl.edu 37 10 292731 292731 + Missense_Mutation SNP C C G TCGA-A8-A0A9-01A-11W-A019-09 TCGA-A8-A0A9-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 228e66eb-1dc6-4c01-8252-c557a8f53916 80968de5-1de3-4be8-8697-1764f28db89f 10 292731 292731 C G SNP ZMYND11 ENST00000381591 human ensembl 69_37n +1 known missense c.976 p.Q326E 1.000 pfam_PWWP,smart_PWWP,pfscan_PWWP pfam_PWWP,pfam_Bromodomain,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,pfscan_PWWP,pfscan_Znf_MYND,pfscan_Znf_PHD-finger,pfscan_Bromodomain - no_errors ZMYND11 HGNC ENSG00000015171 38 0 0.00 18 10 35.71 - - - ZNF250 0 genome.wustl.edu 37 8 146107075 146107075 + Missense_Mutation SNP C C T TCGA-A8-A0A9-01A-11W-A019-09 TCGA-A8-A0A9-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 228e66eb-1dc6-4c01-8252-c557a8f53916 80968de5-1de3-4be8-8697-1764f28db89f 8 146107075 146107075 C T SNP ZNF250 ENST00000292579 human ensembl 69_37n -1 known missense c.1508 p.G503D 1.000 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 ZNF250 HGNC ENSG00000196150 40 0 0.00 45 13 22.41 - - - ZNF407 0 genome.wustl.edu 37 18 72344114 72344114 + Missense_Mutation SNP G G C TCGA-A8-A0A9-01A-11W-A019-09 TCGA-A8-A0A9-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 228e66eb-1dc6-4c01-8252-c557a8f53916 80968de5-1de3-4be8-8697-1764f28db89f 18 72344114 72344114 G C SNP ZNF407 ENST00000299687 human ensembl 69_37n +1 known missense c.1139 p.R380T 0.033 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_U1,pfscan_Znf_C2H2 - no_errors ZNF407 HGNC ENSG00000215421 116 0 0.00 37 10 21.28 - - -