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 ACSS3 0 genome.wustl.edu 37 12 81568688 81568688 + Missense_Mutation SNP C C T TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97840e8f-a4b6-45a8-abe4-592475224e7b c7936190-316a-4fbd-9d93-6867e49fe6b6 12 81568688 81568688 C T SNP ACSS3 ENST00000548058 human ensembl 69_37n +1 known missense c.1220 p.A407V 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_Acyl-CoA_synth_DUF3448 - no_errors ACSS3 HGNC ENSG00000111058 35 0 0.00 45 9 16.67 - - - ALG5 0 genome.wustl.edu 37 13 37569615 37569615 + Missense_Mutation SNP G G A TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97840e8f-a4b6-45a8-abe4-592475224e7b c7936190-316a-4fbd-9d93-6867e49fe6b6 13 37569615 37569615 G A SNP ALG5 ENST00000239891 human ensembl 69_37n -1 known missense c.185 p.S62L 0.960 NULL pfam_Glyco_trans_2 - no_errors ALG5 HGNC ENSG00000120697 73 0 0.00 43 17 28.33 - - - AMPH 0 genome.wustl.edu 37 7 38424484 38424484 + Nonsense_Mutation SNP G G A TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97840e8f-a4b6-45a8-abe4-592475224e7b c7936190-316a-4fbd-9d93-6867e49fe6b6 7 38424484 38424484 G A SNP AMPH ENST00000356264 human ensembl 69_37n -1 known nonsense c.2023 p.Q675* 1.000 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_Amphiphysin_1 pfam_BAR_dom,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_Amphiphysin,prints_Amphiphysin_1,prints_SH3_domain - no_errors AMPH HGNC ENSG00000078053 39 0 0.00 34 8 19.05 - - - BPNT1 0 genome.wustl.edu 37 1 220233117 220233117 + Missense_Mutation SNP T T C TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97840e8f-a4b6-45a8-abe4-592475224e7b c7936190-316a-4fbd-9d93-6867e49fe6b6 1 220233117 220233117 T C SNP BPNT1 ENST00000322067 human ensembl 69_37n -1 known missense c.689 p.E230G 1.000 pfam_Inositol_monophosphatase pfam_Inositol_monophosphatase - no_errors BPNT1 HGNC ENSG00000162813 39 0 0.00 44 10 18.52 - - - C1orf101 0 genome.wustl.edu 37 1 244724054 244724054 + Missense_Mutation SNP G G A TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97840e8f-a4b6-45a8-abe4-592475224e7b c7936190-316a-4fbd-9d93-6867e49fe6b6 1 244724054 244724054 G A SNP C1orf101 ENST00000366534 human ensembl 69_37n +1 known missense c.1114 p.V372I 0.000 NULL NULL - no_errors C1orf101 HGNC ENSG00000179397 60 0 0.00 107 20 15.62 - - - C3orf55 0 genome.wustl.edu 37 3 157261177 157261177 + RNA SNP C C T TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97840e8f-a4b6-45a8-abe4-592475224e7b c7936190-316a-4fbd-9d93-6867e49fe6b6 3 157261177 157261177 C T SNP C3orf55 ENST00000498159 human ensembl 69_37n +1 putative rna NULL NULL 0.000 - - - no_errors C3orf55 HGNC ENSG00000174899 25 0 0.00 30 10 25.00 - - - CAMK4 0 genome.wustl.edu 37 5 110820109 110820109 + Missense_Mutation SNP G G T TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97840e8f-a4b6-45a8-abe4-592475224e7b c7936190-316a-4fbd-9d93-6867e49fe6b6 5 110820109 110820109 G T SNP CAMK4 ENST00000282356 human ensembl 69_37n +1 known missense c.1367 p.S456I 0.000 NULL 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 CAMK4 HGNC ENSG00000152495 38 0 0.00 30 4 11.76 - - - CARD14 0 genome.wustl.edu 37 17 78178979 78178979 + Silent SNP C C T TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97840e8f-a4b6-45a8-abe4-592475224e7b c7936190-316a-4fbd-9d93-6867e49fe6b6 17 78178979 78178979 C T SNP CARD14 ENST00000344227 human ensembl 69_37n +1 known silent c.2544 p.L848 0.528 NULL pfam_CARD,superfamily_DEATH-like,superfamily_PDZ,pfscan_CARD,pfscan_PDZ,pfscan_Guanylate_kin - no_errors CARD14 HGNC ENSG00000141527 51 0 0.00 53 25 32.05 - - - CATSPERG 0 genome.wustl.edu 37 19 38858703 38858703 + Missense_Mutation SNP C C G TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97840e8f-a4b6-45a8-abe4-592475224e7b c7936190-316a-4fbd-9d93-6867e49fe6b6 19 38858703 38858703 C G SNP CATSPERG ENST00000409235 human ensembl 69_37n +1 known missense c.2946 p.I982M 1.000 NULL NULL - no_errors CATSPERG HGNC ENSG00000099338 26 0 0.00 21 8 27.59 - - - CD300LG 0 genome.wustl.edu 37 17 41939191 41939191 + Missense_Mutation SNP C C G TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97840e8f-a4b6-45a8-abe4-592475224e7b c7936190-316a-4fbd-9d93-6867e49fe6b6 17 41939191 41939191 C G SNP CD300LG ENST00000317310 human ensembl 69_37n +1 known missense c.911 p.S304C 0.004 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like - no_errors CD300LG HGNC ENSG00000161649 29 0 0.00 25 11 29.73 - - - CD53 0 genome.wustl.edu 37 1 111441958 111441958 + RNA SNP G G A TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97840e8f-a4b6-45a8-abe4-592475224e7b c7936190-316a-4fbd-9d93-6867e49fe6b6 1 111441958 111441958 G A SNP CD53 ENST00000476408 human ensembl 69_37n +1 known rna NULL NULL 0.004 - - - no_errors CD53 HGNC ENSG00000143119 18 0 0.00 17 4 19.05 - - - CDH13 0 genome.wustl.edu 37 16 83214480 83214480 + Silent SNP C C A TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97840e8f-a4b6-45a8-abe4-592475224e7b c7936190-316a-4fbd-9d93-6867e49fe6b6 16 83214480 83214480 C A SNP CDH13 ENST00000431540 human ensembl 69_37n +1 putative silent c.489 p.T163 0.685 NULL pfam_Cadherin_pro_dom,superfamily_Cadherin-like - no_errors CDH13 HGNC ENSG00000140945 32 0 0.00 14 6 30.00 - - - CDK5RAP1 0 genome.wustl.edu 37 20 31946930 31946930 + Splice_Site SNP C C T TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97840e8f-a4b6-45a8-abe4-592475224e7b c7936190-316a-4fbd-9d93-6867e49fe6b6 20 31946930 31946930 C T SNP CDK5RAP1 ENST00000357886 human ensembl 69_37n -1 known splice_site c.1726-1 e14-1 1.000 - - - no_errors CDK5RAP1 HGNC ENSG00000101391 26 0 0.00 15 5 25.00 - - - CDS2 0 genome.wustl.edu 37 20 5155847 5155847 + Silent SNP G G T TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97840e8f-a4b6-45a8-abe4-592475224e7b c7936190-316a-4fbd-9d93-6867e49fe6b6 20 5155847 5155847 G T SNP CDS2 ENST00000460006 human ensembl 69_37n +1 known silent c.213 p.V71 0.998 pfam_PC_trans,pirsf_PC_Trfase_euk pfam_PC_trans,pirsf_PC_Trfase_euk - no_errors CDS2 HGNC ENSG00000101290 59 0 0.00 58 10 14.71 - - - CHTF18 0 genome.wustl.edu 37 16 842805 842805 + Silent SNP C C G TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97840e8f-a4b6-45a8-abe4-592475224e7b c7936190-316a-4fbd-9d93-6867e49fe6b6 16 842805 842805 C G SNP CHTF18 ENST00000317063 human ensembl 69_37n +1 known silent c.2151 p.L717 0.080 smart_AAA+_ATPase pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase - no_errors CHTF18 HGNC ENSG00000127586 41 0 0.00 47 8 14.55 - - - CNOT3 0 genome.wustl.edu 37 19 54656056 54656056 + Missense_Mutation SNP G G A TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97840e8f-a4b6-45a8-abe4-592475224e7b c7936190-316a-4fbd-9d93-6867e49fe6b6 19 54656056 54656056 G A SNP CNOT3 ENST00000221232 human ensembl 69_37n +1 known missense c.1699 p.E567K 0.996 pirsf_CCR4-NOT_su3/5 pfam_Not_N,pfam_NOT,pirsf_CCR4-NOT_su3/5 - no_errors CNOT3 HGNC ENSG00000088038 69 0 0.00 48 12 20.00 - - - CPED1 0 genome.wustl.edu 37 7 120691313 120691313 + RNA SNP C C T TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97840e8f-a4b6-45a8-abe4-592475224e7b c7936190-316a-4fbd-9d93-6867e49fe6b6 7 120691313 120691313 C T SNP CPED1 ENST00000495036 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors CPED1 HGNC ENSG00000106034 30 0 0.00 33 5 13.16 - - - CTSW 0 genome.wustl.edu 37 11 65650290 65650290 + Silent SNP A A G TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97840e8f-a4b6-45a8-abe4-592475224e7b c7936190-316a-4fbd-9d93-6867e49fe6b6 11 65650290 65650290 A G SNP CTSW ENST00000307886 human ensembl 69_37n +1 known silent c.660 p.K220 0.000 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSW HGNC ENSG00000172543 28 0 0.00 36 5 12.20 - - - CWC25 0 genome.wustl.edu 37 17 36971290 36971290 + Silent SNP G G A TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97840e8f-a4b6-45a8-abe4-592475224e7b c7936190-316a-4fbd-9d93-6867e49fe6b6 17 36971290 36971290 G A SNP CWC25 ENST00000225428 human ensembl 69_37n -1 known silent c.252 p.D84 0.974 pfam_CWC25 pfam_CWC25,pfam_CIR_N_dom - no_errors CWC25 HGNC ENSG00000108296 32 0 0.00 35 7 16.67 - - - DDX58 0 genome.wustl.edu 37 9 32466374 32466374 + Missense_Mutation SNP C C T TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97840e8f-a4b6-45a8-abe4-592475224e7b c7936190-316a-4fbd-9d93-6867e49fe6b6 9 32466374 32466374 C T SNP DDX58 ENST00000379883 human ensembl 69_37n -1 known missense c.2251 p.E751K 1.000 pfscan_Helicase_C pfam_RIG-I_C-RD,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_DEATH-like,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX58 HGNC ENSG00000107201 139 0 0.00 101 16 13.68 - - - DNAJC30 0 genome.wustl.edu 37 7 73097257 73097257 + Missense_Mutation SNP G G T TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97840e8f-a4b6-45a8-abe4-592475224e7b c7936190-316a-4fbd-9d93-6867e49fe6b6 7 73097257 73097257 G T SNP DNAJC30 ENST00000395176 human ensembl 69_37n -1 known missense c.497 p.A166D 1.000 NULL pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,prints_Hsp_DnaJ,pfscan_DnaJ_N - no_errors DNAJC30 HGNC ENSG00000176410 22 0 0.00 18 8 30.77 - - - DNM2 0 genome.wustl.edu 37 19 10908144 10908144 + Missense_Mutation SNP G G C TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97840e8f-a4b6-45a8-abe4-592475224e7b c7936190-316a-4fbd-9d93-6867e49fe6b6 19 10908144 10908144 G C SNP DNM2 ENST00000314646 human ensembl 69_37n +1 known missense c.1285 p.D429H 1.000 pfam_Dynamin_central pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin - no_errors DNM2 HGNC ENSG00000079805 59 0 0.00 46 8 14.55 - - - DOCK4 0 genome.wustl.edu 37 7 111379194 111379194 + Missense_Mutation SNP G G A TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97840e8f-a4b6-45a8-abe4-592475224e7b c7936190-316a-4fbd-9d93-6867e49fe6b6 7 111379194 111379194 G A SNP DOCK4 ENST00000428084 human ensembl 69_37n -1 known missense c.5228 p.S1743L 0.994 NULL pfam_DOCK,pfam_SH3_2,superfamily_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK4 HGNC ENSG00000128512 73 0 0.00 35 13 27.08 - - - DOCK7 0 genome.wustl.edu 37 1 63090858 63090858 + RNA SNP C C T TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97840e8f-a4b6-45a8-abe4-592475224e7b c7936190-316a-4fbd-9d93-6867e49fe6b6 1 63090858 63090858 C T SNP DOCK7 ENST00000464312 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors DOCK7 HGNC ENSG00000116641 29 0 0.00 29 4 12.12 - - - DYTN 0 genome.wustl.edu 37 2 207575268 207575268 + Missense_Mutation SNP G G A TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97840e8f-a4b6-45a8-abe4-592475224e7b c7936190-316a-4fbd-9d93-6867e49fe6b6 2 207575268 207575268 G A SNP DYTN ENST00000452335 human ensembl 69_37n -1 known missense c.74 p.S25L 0.979 pfam_EF-hand_dom_typ1 pfam_EF-hand_dom_typ2,pfam_EF-hand_dom_typ1,pfam_Znf_ZZ,smart_Znf_ZZ,pfscan_Znf_ZZ - no_errors DYTN HGNC ENSG00000232125 72 0 0.00 60 23 27.71 - - - EBF2 0 genome.wustl.edu 37 8 25899697 25899697 + Missense_Mutation SNP G G A TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97840e8f-a4b6-45a8-abe4-592475224e7b c7936190-316a-4fbd-9d93-6867e49fe6b6 8 25899697 25899697 G A SNP EBF2 ENST00000520164 human ensembl 69_37n -1 known missense c.202 p.H68Y 1.000 NULL pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt - no_errors EBF2 HGNC ENSG00000221818 72 0 0.00 47 10 17.54 - - - EIF2B5 0 genome.wustl.edu 37 3 183862720 183862720 + Missense_Mutation SNP G G A TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97840e8f-a4b6-45a8-abe4-592475224e7b c7936190-316a-4fbd-9d93-6867e49fe6b6 3 183862720 183862720 G A SNP EIF2B5 ENST00000273783 human ensembl 69_37n +1 known missense c.2155 p.E719K 0.999 pfam_W2_domain pfam_W2_domain,superfamily_ARM-type_fold,superfamily_Trimer_LpxA-like,smart_W2_domain - no_errors EIF2B5 HGNC ENSG00000145191 33 0 0.00 19 8 29.63 - - - EPS8L2 0 genome.wustl.edu 37 11 726444 726444 + Missense_Mutation SNP G G A TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97840e8f-a4b6-45a8-abe4-592475224e7b c7936190-316a-4fbd-9d93-6867e49fe6b6 11 726444 726444 G A SNP EPS8L2 ENST00000318562 human ensembl 69_37n +1 known missense c.1894 p.E632K 0.827 superfamily_SAM/pointed pfam_PTB,pfam_SH3_domain,pfam_PTyr_interaction_dom,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_PTyr_interaction_dom,smart_SH3_domain,pfscan_PTyr_interaction_dom,pfscan_SH3_domain - no_errors EPS8L2 HGNC ENSG00000177106 11 0 0.00 0 4 100.00 - - - FAM127A 0 genome.wustl.edu 37 X 134167176 134167176 + RNA SNP G G A TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97840e8f-a4b6-45a8-abe4-592475224e7b c7936190-316a-4fbd-9d93-6867e49fe6b6 X 134167176 134167176 G A SNP FAM127A ENST00000464369 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors FAM127A HGNC ENSG00000134590 58 0 0.00 50 15 23.08 - - - FAM184A 0 genome.wustl.edu 37 6 119345694 119345694 + Silent SNP G G A TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97840e8f-a4b6-45a8-abe4-592475224e7b c7936190-316a-4fbd-9d93-6867e49fe6b6 6 119345694 119345694 G A SNP FAM184A ENST00000338891 human ensembl 69_37n -1 known silent c.444 p.V148 0.612 NULL superfamily_Prefoldin - no_errors FAM184A HGNC ENSG00000111879 42 0 0.00 37 9 19.57 - - - FBXW7 0 genome.wustl.edu 37 4 153332918 153332918 + Missense_Mutation SNP C C A TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97840e8f-a4b6-45a8-abe4-592475224e7b c7936190-316a-4fbd-9d93-6867e49fe6b6 4 153332918 153332918 C A SNP FBXW7 ENST00000281708 human ensembl 69_37n -1 known missense c.38 p.R13L 1.000 NULL pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors FBXW7 HGNC ENSG00000109670 94 0 0.00 78 24 23.53 - - - FCRL5 0 genome.wustl.edu 37 1 157504500 157504500 + Missense_Mutation SNP A A T TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97840e8f-a4b6-45a8-abe4-592475224e7b c7936190-316a-4fbd-9d93-6867e49fe6b6 1 157504500 157504500 A T SNP FCRL5 ENST00000356953 human ensembl 69_37n -1 known missense c.1585 p.F529I 0.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors FCRL5 HGNC ENSG00000143297 50 0 0.00 55 12 17.91 - - - FDPS 0 genome.wustl.edu 37 1 155279482 155279482 + RNA SNP T T G TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97840e8f-a4b6-45a8-abe4-592475224e7b c7936190-316a-4fbd-9d93-6867e49fe6b6 1 155279482 155279482 T G SNP FDPS ENST00000487002 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors FDPS HGNC ENSG00000160752 10 0 0.00 15 5 23.81 - - - GGT1 0 genome.wustl.edu 37 22 25007131 25007131 + Missense_Mutation SNP C C T TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97840e8f-a4b6-45a8-abe4-592475224e7b c7936190-316a-4fbd-9d93-6867e49fe6b6 22 25007131 25007131 C T SNP GGT1 ENST00000248923 human ensembl 69_37n +1 known missense c.83 p.S28L 0.062 NULL pfam_GGT_peptidase,prints_GGT_peptidase,tigrfam_GGT_peptidase - no_errors GGT1 HGNC ENSG00000100031 126 0 0.00 98 33 25.00 - - - GGT1 0 genome.wustl.edu 37 22 25019803 25019803 + Missense_Mutation SNP C C T TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97840e8f-a4b6-45a8-abe4-592475224e7b c7936190-316a-4fbd-9d93-6867e49fe6b6 22 25019803 25019803 C T SNP GGT1 ENST00000248923 human ensembl 69_37n +1 known missense c.940 p.H314Y 1.000 pfam_GGT_peptidase,tigrfam_GGT_peptidase pfam_GGT_peptidase,prints_GGT_peptidase,tigrfam_GGT_peptidase - no_errors GGT1 HGNC ENSG00000100031 95 0 0.00 114 17 12.98 - - - GLRX3 0 genome.wustl.edu 37 10 131967700 131967700 + Silent SNP C C T TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97840e8f-a4b6-45a8-abe4-592475224e7b c7936190-316a-4fbd-9d93-6867e49fe6b6 10 131967700 131967700 C T SNP GLRX3 ENST00000331244 human ensembl 69_37n +1 known silent c.717 p.L239 1.000 superfamily_Thioredoxin-like_fold,tigrfam_Monothiol_GRX-rel pfam_Glutaredoxin,pfam_Thioredoxin_domain,pfam_mRNA_splic_U5,pfam_Phosducin_thioredoxin-like_dom,superfamily_Thioredoxin-like_fold,tigrfam_Monothiol_GRX-rel - no_errors GLRX3 HGNC ENSG00000108010 59 0 0.00 46 11 19.30 - - - GSN 0 genome.wustl.edu 37 9 124091358 124091358 + RNA SNP G G A TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97840e8f-a4b6-45a8-abe4-592475224e7b c7936190-316a-4fbd-9d93-6867e49fe6b6 9 124091358 124091358 G A SNP GSN ENST00000477553 human ensembl 69_37n +1 putative rna NULL NULL 0.000 - - - no_errors GSN HGNC ENSG00000148180 33 0 0.00 22 5 18.52 - - - HMGB1 0 genome.wustl.edu 37 13 31039984 31039984 + RNA SNP G G A TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97840e8f-a4b6-45a8-abe4-592475224e7b c7936190-316a-4fbd-9d93-6867e49fe6b6 13 31039984 31039984 G A SNP HMGB1 ENST00000468384 human ensembl 69_37n -1 known rna NULL NULL 0.998 - - - no_errors HMGB1 HGNC ENSG00000189403 29 0 0.00 24 9 26.47 - - - HTATSF1 0 genome.wustl.edu 37 X 135581801 135581801 + Silent SNP C C T TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97840e8f-a4b6-45a8-abe4-592475224e7b c7936190-316a-4fbd-9d93-6867e49fe6b6 X 135581801 135581801 C T SNP HTATSF1 ENST00000218364 human ensembl 69_37n +1 known silent c.231 p.F77 0.840 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors HTATSF1 HGNC ENSG00000102241 79 0 0.00 61 10 14.08 - - - INPP5F 0 genome.wustl.edu 37 10 121565916 121565916 + Missense_Mutation SNP G G A TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97840e8f-a4b6-45a8-abe4-592475224e7b c7936190-316a-4fbd-9d93-6867e49fe6b6 10 121565916 121565916 G A SNP INPP5F ENST00000361976 human ensembl 69_37n +1 known missense c.1364 p.R455H 1.000 pfscan_Syja_N pfam_Syja_N,pfam_Inositol_phosphatase,pfscan_Syja_N - no_errors INPP5F HGNC ENSG00000198825 49 0 0.00 36 16 30.19 - - - ITGA4 0 genome.wustl.edu 37 2 182399016 182399016 + Silent SNP C C T TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97840e8f-a4b6-45a8-abe4-592475224e7b c7936190-316a-4fbd-9d93-6867e49fe6b6 2 182399016 182399016 C T SNP ITGA4 ENST00000397033 human ensembl 69_37n +1 known silent c.2802 p.L934 1.000 NULL pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA4 HGNC ENSG00000115232 54 0 0.00 34 11 24.44 - - - JAM2 0 genome.wustl.edu 37 21 27012166 27012166 + Silent SNP G G C TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97840e8f-a4b6-45a8-abe4-592475224e7b c7936190-316a-4fbd-9d93-6867e49fe6b6 21 27012166 27012166 G C SNP JAM2 ENST00000400535 human ensembl 69_37n +1 known silent c.33 p.L11 0.207 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors JAM2 HGNC ENSG00000154721 64 0 0.00 49 14 22.22 - - - KIAA0913 0 genome.wustl.edu 37 10 75558790 75558790 + Missense_Mutation SNP G G T TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97840e8f-a4b6-45a8-abe4-592475224e7b c7936190-316a-4fbd-9d93-6867e49fe6b6 10 75558790 75558790 G T SNP KIAA0913 ENST00000398706 human ensembl 69_37n +1 known missense c.4207 p.A1403S 1.000 NULL pfscan_Znf_SWIM - no_errors KIAA0913 HGNC ENSG00000214655 27 0 0.00 25 4 13.79 - - - KIDINS220 0 genome.wustl.edu 37 2 8943190 8943190 + Missense_Mutation SNP T T C TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97840e8f-a4b6-45a8-abe4-592475224e7b c7936190-316a-4fbd-9d93-6867e49fe6b6 2 8943190 8943190 T C SNP KIDINS220 ENST00000256707 human ensembl 69_37n -1 known missense c.671 p.K224R 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KIDINS220 HGNC ENSG00000134313 73 0 0.00 51 8 13.56 - - - KRT17 0 genome.wustl.edu 37 17 39780674 39780674 + Missense_Mutation SNP G G A TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97840e8f-a4b6-45a8-abe4-592475224e7b c7936190-316a-4fbd-9d93-6867e49fe6b6 17 39780674 39780674 G A SNP KRT17 ENST00000311208 human ensembl 69_37n -1 known missense c.88 p.R30W 0.436 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT17 HGNC ENSG00000128422 88 0 0.00 60 23 27.71 - - - LAMA1 0 genome.wustl.edu 37 18 6943275 6943275 + Missense_Mutation SNP G G C TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97840e8f-a4b6-45a8-abe4-592475224e7b c7936190-316a-4fbd-9d93-6867e49fe6b6 18 6943275 6943275 G C SNP LAMA1 ENST00000389658 human ensembl 69_37n -1 known missense c.8971 p.L2991V 0.694 pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 124 0 0.00 104 23 18.11 - - - LMO7 0 genome.wustl.edu 37 13 76335112 76335112 + Missense_Mutation SNP G G C TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97840e8f-a4b6-45a8-abe4-592475224e7b c7936190-316a-4fbd-9d93-6867e49fe6b6 13 76335112 76335112 G C SNP LMO7 ENST00000357063 human ensembl 69_37n +1 known missense c.411 p.L137F 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain,prints_SM22_calponin pfam_CH-domain,pfam_PDZ,superfamily_CH-domain,superfamily_PDZ,smart_CH-domain,smart_PDZ,pfscan_CH-domain,pfscan_PDZ,prints_SM22_calponin - no_errors LMO7 HGNC ENSG00000136153 38 0 0.00 34 7 17.07 - - - LTBP2 0 genome.wustl.edu 37 14 74969268 74969268 + Missense_Mutation SNP C C T TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97840e8f-a4b6-45a8-abe4-592475224e7b c7936190-316a-4fbd-9d93-6867e49fe6b6 14 74969268 74969268 C T SNP LTBP2 ENST00000553939 human ensembl 69_37n -1 known missense c.5258 p.R1753K 0.001 NULL pfam_EGF-like_Ca-bd,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom - no_errors LTBP2 HGNC ENSG00000119681 9 0 0.00 6 14 70.00 - - - MAP2K3 0 genome.wustl.edu 37 17 21215457 21215457 + Missense_Mutation SNP G G A TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97840e8f-a4b6-45a8-abe4-592475224e7b c7936190-316a-4fbd-9d93-6867e49fe6b6 17 21215457 21215457 G A SNP MAP2K3 ENST00000342679 human ensembl 69_37n +1 known missense c.778 p.E260K 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,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAP2K3 HGNC ENSG00000034152 122 0 0.00 98 12 10.91 - - - MEGF8 0 genome.wustl.edu 37 19 42857928 42857928 + Missense_Mutation SNP G G A TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97840e8f-a4b6-45a8-abe4-592475224e7b c7936190-316a-4fbd-9d93-6867e49fe6b6 19 42857928 42857928 G A SNP MEGF8 ENST00000251268 human ensembl 69_37n +1 known missense c.3763 p.A1255T 1.000 pfam_EGF_laminin,smart_EGF-like,smart_EGF_laminin,pfscan_EGF_laminin pfam_CUB,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB,superfamily_Plexin-like_fold,smart_CUB,smart_EGF-like,smart_Plexin-like,smart_EGF-like_Ca-bd,smart_EGF_laminin,pfscan_CUB,pfscan_EG-like_dom,pfscan_EGF_laminin - no_errors MEGF8 HGNC ENSG00000105429 41 0 0.00 25 10 28.57 - - - MIR3164 0 genome.wustl.edu 37 11 68850688 68850688 + RNA SNP G G T TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97840e8f-a4b6-45a8-abe4-592475224e7b c7936190-316a-4fbd-9d93-6867e49fe6b6 11 68850688 68850688 G T SNP MIR3164 ENST00000581178 human ensembl 69_37n +1 known rna NULL NULL 0.015 - - - no_errors MIR3164 HGNC ENSG00000265539 41 0 0.00 31 4 11.43 - - - MLL3 0 genome.wustl.edu 37 7 151846017 151846017 + Frame_Shift_Del DEL T T - TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97840e8f-a4b6-45a8-abe4-592475224e7b c7936190-316a-4fbd-9d93-6867e49fe6b6 7 151846017 151846017 T - DEL MLL3 ENST00000355193 human ensembl 69_37n -1 known frame_shift_del c.13166 p.K4389fs 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC ENSG00000055609 32 0 0.00 26 9 25.71 - - - MUC19 0 genome.wustl.edu 37 12 40821259 40821259 + Nonsense_Mutation SNP C C T TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97840e8f-a4b6-45a8-abe4-592475224e7b c7936190-316a-4fbd-9d93-6867e49fe6b6 12 40821259 40821259 C T SNP MUC19 ENST00000425730 human ensembl 69_37n +1 novel nonsense c.1168 p.Q390* 1.000 pfam_TIL_dom,superfamily_TIL_dom pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_VWC_out,smart_Unchr_dom_Cys-rich - no_stop_codon:bad_bp_length_for_coding_region MUC19 HGNC ENSG00000205592 78 0 0.00 53 12 18.46 - - - MYO1E 0 genome.wustl.edu 37 15 59428908 59428908 + Silent SNP G G T TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97840e8f-a4b6-45a8-abe4-592475224e7b c7936190-316a-4fbd-9d93-6867e49fe6b6 15 59428908 59428908 G T SNP MYO1E ENST00000559412 human ensembl 69_37n -1 putative silent c.198 p.G66 1.000 NULL NULL - no_start_codon MYO1E HGNC ENSG00000157483 41 0 0.00 36 4 10.00 - - - MYO3A 0 genome.wustl.edu 37 10 26377234 26377234 + Missense_Mutation SNP G G A TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97840e8f-a4b6-45a8-abe4-592475224e7b c7936190-316a-4fbd-9d93-6867e49fe6b6 10 26377234 26377234 G A SNP MYO3A ENST00000265944 human ensembl 69_37n +1 known missense c.1462 p.G488R 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_cat_dom,prints_Myosin_head_motor_dom - no_errors MYO3A HGNC ENSG00000095777 58 0 0.00 44 8 15.38 - - - NALCN 0 genome.wustl.edu 37 13 102047687 102047687 + Silent SNP G G T TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97840e8f-a4b6-45a8-abe4-592475224e7b c7936190-316a-4fbd-9d93-6867e49fe6b6 13 102047687 102047687 G T SNP NALCN ENST00000251127 human ensembl 69_37n -1 known silent c.138 p.A46 1.000 NULL pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 30 0 0.00 15 8 33.33 - - - NBPF14 0 genome.wustl.edu 37 1 148009510 148009510 + Missense_Mutation SNP G G A TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97840e8f-a4b6-45a8-abe4-592475224e7b c7936190-316a-4fbd-9d93-6867e49fe6b6 1 148009510 148009510 G A SNP NBPF14 ENST00000310701 human ensembl 69_37n -1 known missense c.1814 p.A605V 0.000 pfam_NBPF_dom pfam_NBPF_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region NBPF14 HGNC ENSG00000122497 37 0 0.00 29 4 12.12 - - - NECAB1 0 genome.wustl.edu 37 8 91929752 91929752 + Silent SNP C C T TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97840e8f-a4b6-45a8-abe4-592475224e7b c7936190-316a-4fbd-9d93-6867e49fe6b6 8 91929752 91929752 C T SNP NECAB1 ENST00000417640 human ensembl 69_37n +1 known silent c.390 p.F130 1.000 NULL pfam_Antibiotic_mOase,superfamily_Dimeric_a/b-barrel,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors NECAB1 HGNC ENSG00000123119 67 0 0.00 41 24 36.36 - - - PBOV1 0 genome.wustl.edu 37 6 138539212 138539212 + Silent SNP G G A TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97840e8f-a4b6-45a8-abe4-592475224e7b c7936190-316a-4fbd-9d93-6867e49fe6b6 6 138539212 138539212 G A SNP PBOV1 ENST00000527246 human ensembl 69_37n -1 known silent c.321 p.F107 0.047 NULL NULL - no_errors PBOV1 HGNC ENSG00000254440 89 0 0.00 74 17 18.68 - - - PDE3B 0 genome.wustl.edu 37 11 14665751 14665751 + Missense_Mutation SNP C C G TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97840e8f-a4b6-45a8-abe4-592475224e7b c7936190-316a-4fbd-9d93-6867e49fe6b6 11 14665751 14665751 C G SNP PDE3B ENST00000282096 human ensembl 69_37n +1 known missense c.130 p.P44A 1.000 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom - no_errors PDE3B HGNC ENSG00000152270 10 0 0.00 8 6 42.86 - - - PIK3CA 0 genome.wustl.edu 37 3 178952072 178952072 + Missense_Mutation SNP A A G TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97840e8f-a4b6-45a8-abe4-592475224e7b c7936190-316a-4fbd-9d93-6867e49fe6b6 3 178952072 178952072 A G SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.3127 p.M1043V 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 20 0 0.00 18 11 37.93 - - - PLK1S1 0 genome.wustl.edu 37 20 21224941 21224941 + RNA SNP C C T TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97840e8f-a4b6-45a8-abe4-592475224e7b c7936190-316a-4fbd-9d93-6867e49fe6b6 20 21224941 21224941 C T SNP PLK1S1 ENST00000451772 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors PLK1S1 HGNC ENSG00000088970 64 0 0.00 51 17 25.00 - - - PRIC285 0 genome.wustl.edu 37 20 62203329 62203329 + RNA SNP A A G TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97840e8f-a4b6-45a8-abe4-592475224e7b c7936190-316a-4fbd-9d93-6867e49fe6b6 20 62203329 62203329 A G SNP PRIC285 ENST00000479540 human ensembl 69_37n -1 known rna NULL NULL 0.196 - - - no_errors RP4-697K14.7 Clone_based_vega_gene ENSG00000130589 45 0 0.00 41 5 10.64 - - - PRSS54 0 genome.wustl.edu 37 16 58314580 58314580 + Missense_Mutation SNP C C T TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97840e8f-a4b6-45a8-abe4-592475224e7b c7936190-316a-4fbd-9d93-6867e49fe6b6 16 58314580 58314580 C T SNP PRSS54 ENST00000219301 human ensembl 69_37n -1 known missense c.736 p.E246K 0.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 - no_errors PRSS54 HGNC ENSG00000103023 29 0 0.00 10 9 47.37 - - - RASEF 0 genome.wustl.edu 37 9 85615112 85615114 + In_Frame_Del DEL TTC TTC - TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 TTC TTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97840e8f-a4b6-45a8-abe4-592475224e7b c7936190-316a-4fbd-9d93-6867e49fe6b6 9 85615112 85615114 TTC - DEL RASEF ENST00000376447 human ensembl 69_37n -1 known in_frame_del c.1695_1693 p.E565in_frame_del 1.000:1.000:1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,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,superfamily_Vinculin/catenin,smart_EF_hand_Ca-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,pfscan_EF_HAND_2,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RASEF HGNC ENSG00000165105 43 0 0.00 23 3 11.54 - - - RET 0 genome.wustl.edu 37 10 43597899 43597899 + Silent SNP C C T TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97840e8f-a4b6-45a8-abe4-592475224e7b c7936190-316a-4fbd-9d93-6867e49fe6b6 10 43597899 43597899 C T SNP RET ENST00000355710 human ensembl 69_37n +1 known silent c.447 p.F149 0.345 pirsf_Tyr_kinase_Ret_rcpt pirsf_Tyr_kinase_Ret_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Cadherin,superfamily_Kinase-like_dom,superfamily_Cadherin-like,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_Cadherin - no_errors RET HGNC ENSG00000165731 48 0 0.00 43 11 20.37 - - - RNFT1 0 genome.wustl.edu 37 17 58034639 58034639 + Missense_Mutation SNP G G T TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97840e8f-a4b6-45a8-abe4-592475224e7b c7936190-316a-4fbd-9d93-6867e49fe6b6 17 58034639 58034639 G T SNP RNFT1 ENST00000305783 human ensembl 69_37n -1 known missense c.951 p.N317K 0.939 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNFT1 HGNC ENSG00000189050 35 0 0.00 29 4 12.12 - - - SALL2 0 genome.wustl.edu 37 14 21993215 21993215 + Missense_Mutation SNP G G A TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97840e8f-a4b6-45a8-abe4-592475224e7b c7936190-316a-4fbd-9d93-6867e49fe6b6 14 21993215 21993215 G A SNP SALL2 ENST00000327430 human ensembl 69_37n -1 known missense c.647 p.T216M 0.446 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL2 HGNC ENSG00000165821 25 0 0.00 19 5 20.83 - - - SCAND2 0 genome.wustl.edu 37 15 85177723 85177723 + RNA SNP T T G TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97840e8f-a4b6-45a8-abe4-592475224e7b c7936190-316a-4fbd-9d93-6867e49fe6b6 15 85177723 85177723 T G SNP SCAND2 ENST00000427525 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors SCAND2 HGNC ENSG00000176700 49 0 0.00 35 4 10.00 - - - SETD8 0 genome.wustl.edu 37 12 123874686 123874686 + Missense_Mutation SNP G G A TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97840e8f-a4b6-45a8-abe4-592475224e7b c7936190-316a-4fbd-9d93-6867e49fe6b6 12 123874686 123874686 G A SNP SETD8 ENST00000437502 human ensembl 69_37n +1 putative missense c.94 p.D32N 0.000 pirsf_Hist_H4-K20_MeTrfase pfam_SET_dom,pirsf_Hist_H4-K20_MeTrfase,pfscan_SET_dom - no_stop_codon SETD8 HGNC ENSG00000183955 48 0 0.00 44 12 21.05 - - - SLAIN1 0 genome.wustl.edu 37 13 78337312 78337312 + Missense_Mutation SNP T T C TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97840e8f-a4b6-45a8-abe4-592475224e7b c7936190-316a-4fbd-9d93-6867e49fe6b6 13 78337312 78337312 T C SNP SLAIN1 ENST00000466548 human ensembl 69_37n +1 known missense c.1664 p.L555P 1.000 NULL NULL - no_errors SLAIN1 HGNC ENSG00000139737 106 0 0.00 70 25 26.04 - - - SLAIN1 0 genome.wustl.edu 37 13 78337313 78337313 + Silent SNP C C T TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97840e8f-a4b6-45a8-abe4-592475224e7b c7936190-316a-4fbd-9d93-6867e49fe6b6 13 78337313 78337313 C T SNP SLAIN1 ENST00000466548 human ensembl 69_37n +1 known silent c.1665 p.L555 1.000 NULL NULL - no_errors SLAIN1 HGNC ENSG00000139737 105 0 0.00 71 23 24.47 - - - SMURF2 0 genome.wustl.edu 37 17 62547752 62547752 + Missense_Mutation SNP C C T TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97840e8f-a4b6-45a8-abe4-592475224e7b c7936190-316a-4fbd-9d93-6867e49fe6b6 17 62547752 62547752 C T SNP SMURF2 ENST00000262435 human ensembl 69_37n -1 known missense c.1819 p.E607K 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP - no_errors SMURF2 HGNC ENSG00000108854 73 0 0.00 47 21 30.88 - - - SNRPB 0 genome.wustl.edu 37 20 2446383 2446383 + Missense_Mutation SNP T T C TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97840e8f-a4b6-45a8-abe4-592475224e7b c7936190-316a-4fbd-9d93-6867e49fe6b6 20 2446383 2446383 T C SNP SNRPB ENST00000438552 human ensembl 69_37n -1 known missense c.238 p.M80V 0.994 pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc,pirsf_snRNP-assoc_SmB/SmN pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc,pirsf_snRNP-assoc_SmB/SmN - no_errors SNRPB HGNC ENSG00000125835 42 0 0.00 39 13 25.00 - - - SP110 0 genome.wustl.edu 37 2 231042265 231042265 + Missense_Mutation SNP C C T TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97840e8f-a4b6-45a8-abe4-592475224e7b c7936190-316a-4fbd-9d93-6867e49fe6b6 2 231042265 231042265 C T SNP SP110 ENST00000258381 human ensembl 69_37n -1 known missense c.1579 p.E527K 0.000 pfam_SAND_dom,superfamily_SAND_dom-like,smart_SAND_dom,pfscan_SAND_dom pfam_Sp100,pfam_SAND_dom,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom - no_errors SP110 HGNC ENSG00000135899 107 1 0.93 94 24 20.34 - - - STX4 0 genome.wustl.edu 37 16 31045531 31045531 + Missense_Mutation SNP C C T TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97840e8f-a4b6-45a8-abe4-592475224e7b c7936190-316a-4fbd-9d93-6867e49fe6b6 16 31045531 31045531 C T SNP STX4 ENST00000460668 human ensembl 69_37n +1 known missense c.139 p.R47W 0.972 NULL NULL - no_errors STX4 HGNC ENSG00000103496 53 0 0.00 59 14 19.18 - - - TAF1 0 genome.wustl.edu 37 X 70678200 70678200 + Frame_Shift_Del DEL A A - TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97840e8f-a4b6-45a8-abe4-592475224e7b c7936190-316a-4fbd-9d93-6867e49fe6b6 X 70678200 70678200 A - DEL TAF1 ENST00000449580 human ensembl 69_37n +1 known frame_shift_del c.5045 p.K1683fs 1.000 pirsf_TAF1_animal pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1 HGNC ENSG00000147133 118 1 0.84 95 34 25.95 - - - TCAIM 0 genome.wustl.edu 37 3 44442753 44442753 + Missense_Mutation SNP G G A TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97840e8f-a4b6-45a8-abe4-592475224e7b c7936190-316a-4fbd-9d93-6867e49fe6b6 3 44442753 44442753 G A SNP TCAIM ENST00000342649 human ensembl 69_37n +1 known missense c.1177 p.D393N 0.971 NULL NULL - no_errors TCAIM HGNC ENSG00000179152 62 0 0.00 45 6 11.76 - - - TRERF1 0 genome.wustl.edu 37 6 42214210 42214210 + Missense_Mutation SNP A A T TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97840e8f-a4b6-45a8-abe4-592475224e7b c7936190-316a-4fbd-9d93-6867e49fe6b6 6 42214210 42214210 A T SNP TRERF1 ENST00000541110 human ensembl 69_37n -1 known missense c.2789 p.I930N 1.000 superfamily_Homeodomain-like,smart_SANT/Myb pfam_ELM2_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2 - no_errors TRERF1 HGNC ENSG00000124496 93 0 0.00 58 20 25.64 - - - TRIM9 0 genome.wustl.edu 37 14 51467550 51467550 + Missense_Mutation SNP G G A TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97840e8f-a4b6-45a8-abe4-592475224e7b c7936190-316a-4fbd-9d93-6867e49fe6b6 14 51467550 51467550 G A SNP TRIM9 ENST00000298355 human ensembl 69_37n -1 known missense c.1315 p.P439S 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_SPRY_rcpt,pfam_Fibronectin_type3,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM9 HGNC ENSG00000100505 55 0 0.00 50 13 20.63 - - - TRPM2 0 genome.wustl.edu 37 21 45833778 45833778 + Silent SNP G G T TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97840e8f-a4b6-45a8-abe4-592475224e7b c7936190-316a-4fbd-9d93-6867e49fe6b6 21 45833778 45833778 G T SNP TRPM2 ENST00000300482 human ensembl 69_37n +1 known silent c.2967 p.V989 0.997 pfam_Ion_trans_dom pfam_Ion_trans_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors TRPM2 HGNC ENSG00000142185 34 0 0.00 36 16 30.77 - - - TTN 0 genome.wustl.edu 37 2 179569262 179569262 + Silent SNP G G A TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97840e8f-a4b6-45a8-abe4-592475224e7b c7936190-316a-4fbd-9d93-6867e49fe6b6 2 179569262 179569262 G A SNP TTN ENST00000342992 human ensembl 69_37n -1 known silent c.26205 p.I8735 0.219 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,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,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 86 0 0.00 68 25 26.88 - - - UBC 0 genome.wustl.edu 37 12 125397564 125397564 + Missense_Mutation SNP C C G TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97840e8f-a4b6-45a8-abe4-592475224e7b c7936190-316a-4fbd-9d93-6867e49fe6b6 12 125397564 125397564 C G SNP UBC ENST00000339647 human ensembl 69_37n -1 known missense c.754 p.E252Q 1.000 pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup,prints_Ubiquitin_subgr - no_errors UBC HGNC ENSG00000150991 73 0 0.00 51 11 17.74 - - - UBC 0 genome.wustl.edu 37 12 125397588 125397588 + Missense_Mutation SNP C C G TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97840e8f-a4b6-45a8-abe4-592475224e7b c7936190-316a-4fbd-9d93-6867e49fe6b6 12 125397588 125397588 C G SNP UBC ENST00000339647 human ensembl 69_37n -1 known missense c.730 p.E244Q 1.000 pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup,prints_Ubiquitin_subgr - no_errors UBC HGNC ENSG00000150991 68 0 0.00 47 9 16.07 - - - USP4 0 genome.wustl.edu 37 3 49335319 49335319 + Missense_Mutation SNP G G A TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97840e8f-a4b6-45a8-abe4-592475224e7b c7936190-316a-4fbd-9d93-6867e49fe6b6 3 49335319 49335319 G A SNP USP4 ENST00000265560 human ensembl 69_37n -1 known missense c.1675 p.R559W 0.986 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP,pfscan_Peptidase_C19 - no_errors USP4 HGNC ENSG00000114316 94 0 0.00 65 17 20.73 - - - USP47 0 genome.wustl.edu 37 11 11979020 11979020 + RNA SNP C C A TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97840e8f-a4b6-45a8-abe4-592475224e7b c7936190-316a-4fbd-9d93-6867e49fe6b6 11 11979020 11979020 C A SNP USP47 ENST00000305481 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors USP47 HGNC ENSG00000170242 78 0 0.00 47 14 22.95 - - - USP48 0 genome.wustl.edu 37 1 22032270 22032270 + Silent SNP G G A TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97840e8f-a4b6-45a8-abe4-592475224e7b c7936190-316a-4fbd-9d93-6867e49fe6b6 1 22032270 22032270 G A SNP USP48 ENST00000308271 human ensembl 69_37n -1 known silent c.2334 p.H778 0.852 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19,pfscan_Ubiquitin_supergroup - no_errors USP48 HGNC ENSG00000090686 50 0 0.00 36 8 18.18 - - - ZC3H12A 0 genome.wustl.edu 37 1 37947372 37947372 + Missense_Mutation SNP G G A TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97840e8f-a4b6-45a8-abe4-592475224e7b c7936190-316a-4fbd-9d93-6867e49fe6b6 1 37947372 37947372 G A SNP ZC3H12A ENST00000373082 human ensembl 69_37n +1 known missense c.754 p.E252K 1.000 pfam_RNase_Zc3h12 pfam_RNase_Zc3h12 - no_errors ZC3H12A HGNC ENSG00000163874 46 0 0.00 35 11 23.91 - - - ZNF410 0 genome.wustl.edu 37 14 74358886 74358886 + Missense_Mutation SNP C C T TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97840e8f-a4b6-45a8-abe4-592475224e7b c7936190-316a-4fbd-9d93-6867e49fe6b6 14 74358886 74358886 C T SNP ZNF410 ENST00000555044 human ensembl 69_37n +1 known missense c.8 p.S3L 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF410 HGNC ENSG00000119725 120 0 0.00 100 26 20.63 - - - ZNF619 0 genome.wustl.edu 37 3 40529166 40529166 + Nonsense_Mutation SNP C C T TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97840e8f-a4b6-45a8-abe4-592475224e7b c7936190-316a-4fbd-9d93-6867e49fe6b6 3 40529166 40529166 C T SNP ZNF619 ENST00000447116 human ensembl 69_37n +1 known nonsense c.1285 p.Q429* 0.013 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 ZNF619 HGNC ENSG00000177873 45 0 0.00 35 13 27.08 - - - ZNF790 0 genome.wustl.edu 37 19 37309377 37309377 + Missense_Mutation SNP C C G TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97840e8f-a4b6-45a8-abe4-592475224e7b c7936190-316a-4fbd-9d93-6867e49fe6b6 19 37309377 37309377 C G SNP ZNF790 ENST00000356725 human ensembl 69_37n -1 known missense c.1869 p.E623D 0.010 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 ZNF790 HGNC ENSG00000197863 93 0 0.00 49 15 22.73 - - - ZNF790 0 genome.wustl.edu 37 19 37309555 37309555 + Missense_Mutation SNP C C T TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97840e8f-a4b6-45a8-abe4-592475224e7b c7936190-316a-4fbd-9d93-6867e49fe6b6 19 37309555 37309555 C T SNP ZNF790 ENST00000356725 human ensembl 69_37n -1 known missense c.1691 p.C564Y 0.413 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 ZNF790 HGNC ENSG00000197863 23 0 0.00 20 7 25.93 - - -