Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source ensembl_gene_id tier title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF ABI2 0 genome.wustl.edu 37 2 204255850 204255850 + Missense_Mutation SNP G G T TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 2 204255850 204255850 G T SNP ABI2 ENST00000295851 human ensembl 74_37 +1 known missense c.562 p.G188W 1.000 NULL pfam_Abl-interactor_HHR_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,pfscan_T_SNARE_dom,prints_SH3_domain,prints_p67phox - no_errors ABI2 HGNC ENSG00000138443 tier1 - - 37 0 0.00 6 30 83.33 AK8 0 genome.wustl.edu 37 9 135702310 135702310 + Missense_Mutation SNP T T C TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 9 135702310 135702310 T C SNP AK8 ENST00000298545 human ensembl 74_37 -1 known missense c.688 p.I230V 0.029 pfam_Adenylate_kin,superfamily_P-loop_NTPase pfam_Adenylate_kin,superfamily_P-loop_NTPase,superfamily_Adenylate_kinase_lid-dom,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,prints_Adenylate_kin - no_errors AK8 HGNC ENSG00000165695 tier1 - - 85 0 0.00 85 25 22.73 AK8 0 genome.wustl.edu 37 9 135750508 135750508 + Missense_Mutation SNP C C T TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 9 135750508 135750508 C T SNP AK8 ENST00000298545 human ensembl 74_37 -1 known missense c.163 p.D55N 0.058 superfamily_cAMP_dep_PK_reg_su_I/II_a/b pfam_Adenylate_kin,superfamily_P-loop_NTPase,superfamily_Adenylate_kinase_lid-dom,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,prints_Adenylate_kin - no_errors AK8 HGNC ENSG00000165695 tier1 - - 68 0 0.00 108 48 30.77 ALG1 0 genome.wustl.edu 37 16 5121961 5121961 + Silent SNP G G A TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 16 5121961 5121961 G A SNP ALG1 ENST00000262374 human ensembl 74_37 +1 known silent c.111 p.A37 0.412 NULL pfam_Glyco_trans_1 - no_errors ALG1 HGNC ENSG00000033011 tier1 - - 36 0 0.00 23 10 30.30 APOB 0 genome.wustl.edu 37 2 21247744 21247744 + Silent SNP G G A TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 2 21247744 21247744 G A SNP APOB ENST00000399256 human ensembl 74_37 -1 putative silent c.2409 p.R803 0.001 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 tier1 - - 43 0 0.00 19 5 20.83 B3GALTL 0 genome.wustl.edu 37 13 31860936 31860936 + Silent SNP G G T TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 13 31860936 31860936 G T SNP B3GALTL ENST00000343307 human ensembl 74_37 +1 known silent c.1044 p.V348 1.000 pfam_Fringe-like pfam_Fringe-like - no_errors B3GALTL HGNC ENSG00000187676 tier1 - - 73 0 0.00 69 9 11.54 C3 0 genome.wustl.edu 37 19 6690725 6690725 + Missense_Mutation SNP T T C TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 19 6690725 6690725 T C SNP C3 ENST00000245907 human ensembl 74_37 -1 known missense c.3404 p.N1135S 0.000 pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,prints_Anaphylatoxn_comp_syst_dom,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain - no_errors C3 HGNC ENSG00000125730 tier1 - - 66 0 0.00 30 24 44.44 CD244 0 genome.wustl.edu 37 1 160808623 160808623 + RNA SNP G G T TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 1 160808623 160808623 G T SNP CD244 ENST00000481677 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CD244 HGNC ENSG00000122223 tier1 - - 22 0 0.00 23 5 17.86 CNR2 0 genome.wustl.edu 37 1 24201571 24201571 + Nonsense_Mutation SNP G G T TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 1 24201571 24201571 G T SNP CNR2 ENST00000374472 human ensembl 74_37 -1 known nonsense c.537 p.C179* 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Cnbnoid_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Canbinoid_rcpt_2,prints_Cnbnoid_rcpt,prints_GPCR_Rhodpsn - no_errors CNR2 HGNC ENSG00000188822 77 0 0.00 74 4 5.06 CTDSP1 0 genome.wustl.edu 37 2 219267102 219267102 + Missense_Mutation SNP G G C TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 2 219267102 219267102 G C SNP CTDSP1 ENST00000273062 human ensembl 74_37 +1 known missense c.352 p.V118L 1.000 pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF,tigrfam_Dullard_phosphatase pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF,tigrfam_Dullard_phosphatase - no_errors CTDSP1 HGNC ENSG00000144579 tier1 - - 76 0 0.00 21 48 69.57 CTPS2 0 genome.wustl.edu 37 X 16609020 16609020 + RNA DEL A A - TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 X 16609020 16609020 A - DEL CTPS2 ENST00000483053 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CTPS2 HGNC ENSG00000047230 tier1 9 0 0.00 13 3 18.75 CX3CL1 0 genome.wustl.edu 37 16 57416011 57416011 + Missense_Mutation SNP G G A TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 16 57416011 57416011 G A SNP CX3CL1 ENST00000564948 human ensembl 74_37 +1 putative missense c.140 p.S47N 0.000 NULL NULL - no_errors CX3CL1 HGNC ENSG00000006210 tier1 - - 58 0 0.00 42 37 46.84 CXXC1 0 genome.wustl.edu 37 18 47810910 47810911 + In_Frame_Ins INS - - GCC TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 18 47810910 47810911 - GCC INS CXXC1 ENST00000412036 human ensembl 74_37 -1 known in_frame_ins c.1055_1054 p.352in_frame_insR 1.000:1.000 NULL pfam_CpG-bd_C,pfam_Znf_CXXC,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors CXXC1 HGNC ENSG00000154832 tier1 44 0 0.00 14 10 41.67 CYTH3 0 genome.wustl.edu 37 7 6210543 6210543 + Missense_Mutation SNP C C T TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 7 6210543 6210543 C T SNP CYTH3 ENST00000350796 human ensembl 74_37 -1 known missense c.629 p.R210H 0.998 pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,pfscan_Sec7_dom pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom - no_errors CYTH3 HGNC ENSG00000008256 tier1 - - 80 0 0.00 57 24 29.63 DNASE1 0 genome.wustl.edu 37 16 3705487 3705487 + Missense_Mutation SNP T T A TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 16 3705487 3705487 T A SNP DNASE1 ENST00000246949 human ensembl 74_37 +1 known missense c.113 p.M38K 1.000 pirsf_DNase_I,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_DNase_I,prints_DNase_I pirsf_DNase_I,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_DNase_I,prints_DNase_I - no_errors DNASE1 HGNC ENSG00000213918 tier1 - - 100 0 0.00 114 6 5.00 DPH5 0 genome.wustl.edu 37 1 101456046 101456046 + Frame_Shift_Del DEL A A - TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 1 101456046 101456046 A - DEL DPH5 ENST00000370109 human ensembl 74_37 -1 known frame_shift_del c.776 p.I259fs 0.984 superfamily_4pyrrol_Mease,pirsf_Dphthn_synthase,tigrfam_Dphthn_synthase pfam_4pyrrol_Mease,superfamily_4pyrrol_Mease,pirsf_Dphthn_synthase,tigrfam_Dphthn_synthase - no_errors DPH5 HGNC ENSG00000117543 tier1 65 0 0.00 54 27 33.33 EHMT1 0 genome.wustl.edu 37 9 140657246 140657246 + Missense_Mutation SNP A A C TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 9 140657246 140657246 A C SNP EHMT1 ENST00000460843 human ensembl 74_37 +1 known missense c.1621 p.M541L 1.000 NULL pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT1 HGNC ENSG00000181090 tier1 - - 66 0 0.00 23 65 73.86 ELP5 0 genome.wustl.edu 37 17 7156110 7156110 + Missense_Mutation SNP G G T TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 17 7156110 7156110 G T SNP ELP5 ENST00000354429 human ensembl 74_37 +1 known missense c.116 p.R39L 0.996 pfam_Elp5 pfam_Elp5 - no_errors ELP5 HGNC ENSG00000170291 tier1 - - 101 0 0.00 75 28 27.18 ENO4 0 genome.wustl.edu 37 10 118620366 118620366 + Silent SNP C C A TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 10 118620366 118620366 C A SNP ENO4 ENST00000341276 human ensembl 74_37 +1 known silent c.699 p.L233 0.190 NULL pfam_Enolase_C,pfam_Enolase_N - no_errors ENO4 HGNC ENSG00000188316 tier1 - - 79 0 0.00 62 24 27.91 ENPP3 0 genome.wustl.edu 37 6 132054857 132054857 + Missense_Mutation SNP C C G TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 6 132054857 132054857 C G SNP ENPP3 ENST00000357639 human ensembl 74_37 +1 known missense c.2083 p.P695A 1.000 pfam_DNA/RNA_non-sp_Endonuclease,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom - no_errors ENPP3 HGNC ENSG00000154269 tier1 - - 31 0 0.00 37 14 27.45 ENSG00000216166 0 genome.wustl.edu 37 3 183520323 183520324 + RNA INS - - TA TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 3 183520323 183520324 - TA INS ENSG00000216166 ENST00000401347 human ensembl 74_37 -1 novel rna NULL NULL 0.000:0.000 - - - no_errors AC131160.1 Clone_based_ensembl_gene ENSG00000216166 tier1 15 0 0.00 28 8 22.22 ENSG00000221220 0 genome.wustl.edu 37 20 17823269 17823269 + RNA DEL T T - TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 20 17823269 17823269 T - DEL ENSG00000221220 ENST00000408293 human ensembl 74_37 +1 novel rna NULL NULL 0.000 - - - no_errors AL035045.1 Clone_based_ensembl_gene ENSG00000221220 tier1 29 0 0.00 21 8 27.59 ENSG00000257743 0 genome.wustl.edu 37 7 141857806 141857806 + Missense_Mutation SNP C C T TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 7 141857806 141857806 C T SNP ENSG00000257743 ENST00000477922 human ensembl 74_37 +1 putative missense c.1993 p.R665C 1.000 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,superfamily_P_trefoil,smart_P_trefoil - no_errors RP11-1220K2.2 Clone_based_vega_gene ENSG00000257743 tier1 - - 90 0 0.00 70 32 31.37 ENSG00000258727 0 genome.wustl.edu 37 14 24035227 24035227 + RNA SNP C C A TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 14 24035227 24035227 C A SNP ENSG00000258727 ENST00000555968 human ensembl 74_37 +1 known rna NULL NULL 0.006 - - - no_errors RP11-66N24.3 Clone_based_vega_gene ENSG00000258727 tier1 - - 37 0 0.00 35 13 27.08 EPB41L4A 0 genome.wustl.edu 37 5 111540178 111540178 + Missense_Mutation SNP A A G TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 5 111540178 111540178 A G SNP EPB41L4A ENST00000261486 human ensembl 74_37 -1 known missense c.1270 p.Y424H 1.000 NULL pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L4A HGNC ENSG00000129595 tier1 - - 52 0 0.00 38 31 44.93 FAM171B 0 genome.wustl.edu 37 2 187559026 187559026 + Silent SNP C C A TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 2 187559026 187559026 C A SNP FAM171B ENST00000304698 human ensembl 74_37 +1 known silent c.126 p.I42 1.000 NULL pfam_Uncharacterised_FAM171 - no_errors FAM171B HGNC ENSG00000144369 18 0 0.00 50 5 8.93 FAM63A 0 genome.wustl.edu 37 1 150978596 150978596 + Silent SNP C C T TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 1 150978596 150978596 C T SNP FAM63A ENST00000361738 human ensembl 74_37 -1 known silent c.36 p.T12 0.000 NULL pfam_DUF544 - no_errors FAM63A HGNC ENSG00000143409 tier1 - - 72 0 0.00 68 4 5.56 FBXO43 0 genome.wustl.edu 37 8 101146049 101146049 + Missense_Mutation SNP C C T TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 8 101146049 101146049 C T SNP FBXO43 ENST00000428847 human ensembl 74_37 -1 known missense c.2108 p.R703Q 1.000 NULL pfam_Znf_C6HC,superfamily_F-box_dom,smart_Znf_C6HC - no_errors FBXO43 HGNC ENSG00000156509 tier1 rs202056051 - 38 0 0.00 17 8 32.00 FILIP1L 0 genome.wustl.edu 37 3 99567929 99567929 + Missense_Mutation SNP G G T TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 3 99567929 99567929 G T SNP FILIP1L ENST00000354552 human ensembl 74_37 -1 known missense c.2591 p.P864H 1.000 NULL pfam_Cortactin-binding_p2_N,superfamily_Prefoldin,prints_Tropomyosin - no_errors FILIP1L HGNC ENSG00000168386 tier1 - - 81 0 0.00 40 31 43.06 FLJ46363 0 genome.wustl.edu 37 12 10103882 10103882 + RNA SNP G G T TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 12 10103882 10103882 G T SNP FLJ46363 ENST00000420905 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors AC091814.3 Clone_based_vega_gene ENSG00000231560 tier1 - - 33 0 0.00 16 16 50.00 FOXD4 0 genome.wustl.edu 37 9 117909 117909 + Missense_Mutation SNP C C T TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 9 117909 117909 C T SNP FOXD4 ENST00000382500 human ensembl 74_37 -1 known missense c.211 p.E71K 0.010 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXD4 HGNC ENSG00000170122 tier1 - - 238 0 0.00 176 18 9.28 FRA10AC1 0 genome.wustl.edu 37 10 95433292 95433292 + RNA SNP T T A TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 10 95433292 95433292 T A SNP FRA10AC1 ENST00000460752 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors FRA10AC1 HGNC ENSG00000148690 tier1 - - 22 0 0.00 17 10 37.04 FRMD3 0 genome.wustl.edu 37 9 85950526 85950526 + Missense_Mutation SNP C C A TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 9 85950526 85950526 C A SNP FRMD3 ENST00000304195 human ensembl 74_37 -1 known missense c.501 p.E167D 0.999 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors FRMD3 HGNC ENSG00000172159 21 0 0.00 23 2 8.00 FRRS1 0 genome.wustl.edu 37 1 100207810 100207810 + Missense_Mutation SNP C C T TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 1 100207810 100207810 C T SNP FRRS1 ENST00000287474 human ensembl 74_37 -1 known missense c.353 p.R118K 0.990 pfam_Reeler_dom,pfscan_Reeler_dom pfam_Reeler_dom,pfam_DOMON_domain,smart_DOMON_domain,smart_Cyt_b561/ferric_Rdtase_TM,pfscan_DOMON_domain,pfscan_Reeler_dom,pfscan_Cyt_b561/ferric_Rdtase_TM - no_errors FRRS1 HGNC ENSG00000156869 tier1 - - 37 0 0.00 21 16 43.24 FTX 0 genome.wustl.edu 37 X 73289338 73289338 + RNA SNP G G T TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 X 73289338 73289338 G T SNP FTX ENST00000602420 human ensembl 74_37 -1 known rna NULL NULL 0.902 - - - no_errors FTX HGNC ENSG00000230590 tier1 - - 15 0 0.00 2 6 75.00 GRM7 0 genome.wustl.edu 37 3 6828372 6828372 + Missense_Mutation SNP A A T TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 3 6828372 6828372 A T SNP GRM7 ENST00000443259 human ensembl 74_37 +1 known missense c.160 p.R54W 0.057 NULL NULL - no_errors GRM7 HGNC ENSG00000196277 tier1 - - 35 0 0.00 16 13 44.83 H3F3C 0 genome.wustl.edu 37 12 31945089 31945089 + Silent SNP G G C TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 12 31945089 31945089 G C SNP H3F3C ENST00000340398 human ensembl 74_37 -1 known silent c.12 p.T4 1.000 superfamily_Histone-fold,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors H3F3C HGNC ENSG00000188375 tier1 - - 78 0 0.00 73 23 23.96 HIST1H2BH 0 genome.wustl.edu 37 6 26252252 26252252 + Missense_Mutation SNP C C G TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 6 26252252 26252252 C G SNP HIST1H2BH ENST00000356350 human ensembl 74_37 +1 known missense c.374 p.S125C 1.000 superfamily_Histone-fold pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BH HGNC ENSG00000197459 tier1 - - 78 0 0.00 20 21 51.22 HTR3E 0 genome.wustl.edu 37 3 183818349 183818349 + Silent SNP G G A TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 3 183818349 183818349 G A SNP HTR3E ENST00000335304 human ensembl 74_37 +1 known silent c.189 p.V63 0.143 superfamily_Neur_chan_lig-bd pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Neur_channel - no_errors HTR3E HGNC ENSG00000186038 tier1 - - 78 0 0.00 137 28 16.97 IDH1 0 genome.wustl.edu 37 2 209106806 209106806 + Missense_Mutation SNP C C T TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 2 209106806 209106806 C T SNP IDH1 ENST00000345146 human ensembl 74_37 -1 known missense c.762 p.M254I 1.000 pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP,tigrfam_Isocitrate_DH_NADP pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP,tigrfam_Isocitrate_DH_NADP - no_errors IDH1 HGNC ENSG00000138413 tier1 - - 35 0 0.00 35 5 12.50 INSC 0 genome.wustl.edu 37 11 15260470 15260470 + Missense_Mutation SNP C C A TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 11 15260470 15260470 C A SNP INSC ENST00000379554 human ensembl 74_37 +1 known missense c.1384 p.Q462K 1.000 superfamily_ARM-type_fold,smart_Armadillo superfamily_ARM-type_fold,smart_Armadillo - no_errors INSC HGNC ENSG00000188487 tier1 - - 56 0 0.00 94 7 6.93 ITPK1-AS1 0 genome.wustl.edu 37 14 93534154 93534154 + RNA SNP T T A TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 14 93534154 93534154 T A SNP ITPK1-AS1 ENST00000553639 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ITPK1-AS1 HGNC ENSG00000258730 30 0 0.00 31 4 11.43 ITPK1-AS1 0 genome.wustl.edu 37 14 93534155 93534155 + RNA SNP G G T TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 14 93534155 93534155 G T SNP ITPK1-AS1 ENST00000553639 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ITPK1-AS1 HGNC ENSG00000258730 31 0 0.00 32 4 11.11 KCNJ12 0 genome.wustl.edu 37 17 21319869 21319869 + Silent SNP C C T TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 17 21319869 21319869 C T SNP KCNJ12 ENST00000331718 human ensembl 74_37 +1 known silent c.1215 p.S405 1.000 pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.2 - no_errors KCNJ12 HGNC ENSG00000184185 tier1 - - 39 0 0.00 62 5 7.46 KCNN2 0 genome.wustl.edu 37 5 113698694 113698694 + Missense_Mutation SNP C C G TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 5 113698694 113698694 C G SNP KCNN2 ENST00000264773 human ensembl 74_37 +1 known missense c.222 p.N74K 1.000 NULL pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_2pore_dom_K_chnl_dom,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK - no_errors KCNN2 HGNC ENSG00000080709 tier1 - - 41 0 0.00 32 18 36.00 KIAA0319 0 genome.wustl.edu 37 6 24566850 24566850 + Missense_Mutation SNP C C T TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 6 24566850 24566850 C T SNP KIAA0319 ENST00000378214 human ensembl 74_37 -1 known missense c.2267 p.R756Q 1.000 pfam_PKD/REJ-like,superfamily_PKD_dom,smart_Fibronectin_type3,smart_PKD/Chitinase_dom pfam_PKD/REJ-like,superfamily_PKD_dom,smart_MANSC_N,smart_Fibronectin_type3,smart_PKD/Chitinase_dom,pfscan_MANSC,pfscan_PKD_dom - no_errors KIAA0319 HGNC ENSG00000137261 tier1 - - 15 0 0.00 11 10 47.62 KMT2D 0 genome.wustl.edu 37 12 49420377 49420378 + Frame_Shift_Ins INS - - A TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 12 49420377 49420378 - A INS KMT2D ENST00000301067 human ensembl 74_37 -1 known frame_shift_ins c.15372_15371 p.M5124fs 1.000:1.000 superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Znf_RING pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 tier1 27 0 0.00 23 3 11.54 KMT2D 0 genome.wustl.edu 37 12 49426916 49426916 + Nonsense_Mutation SNP G G A TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 12 49426916 49426916 G A SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known nonsense c.11572 p.Q3858* 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 tier1 - - 47 0 0.00 53 51 49.04 KRT15 0 genome.wustl.edu 37 17 39671781 39671781 + Missense_Mutation SNP G G T TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 17 39671781 39671781 G T SNP KRT15 ENST00000254043 human ensembl 74_37 -1 known missense c.1190 p.T397K 0.947 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT15 HGNC ENSG00000171346 tier1 - - 52 0 0.00 63 4 5.97 KRTAP11-1 0 genome.wustl.edu 37 21 32253537 32253537 + Missense_Mutation SNP G G T TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 21 32253537 32253537 G T SNP KRTAP11-1 ENST00000332378 human ensembl 74_37 -1 known missense c.307 p.P103T 0.938 pfam_KRTAP_PMG pfam_KRTAP_PMG - no_errors KRTAP11-1 HGNC ENSG00000182591 tier1 - - 22 0 0.00 22 16 42.11 LOC284898 0 genome.wustl.edu 37 22 27445847 27445847 + RNA SNP C C T TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 22 27445847 27445847 C T SNP LOC284898 ENST00000453934 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors CTA-992D9.6 Clone_based_vega_gene ENSG00000236858 tier1 - - 22 0 0.00 17 8 32.00 LOC642852 0 genome.wustl.edu 37 21 46711242 46711242 + RNA SNP G G A TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 21 46711242 46711242 G A SNP LOC642852 ENST00000400362 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors BX322557.10 Clone_based_vega_gene ENSG00000215447 tier1 - - 16 0 0.00 10 9 47.37 MAMDC2 0 genome.wustl.edu 37 9 72783711 72783711 + Missense_Mutation SNP G G C TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 9 72783711 72783711 G C SNP MAMDC2 ENST00000377182 human ensembl 74_37 +1 known missense c.1498 p.E500Q 1.000 NULL pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom,prints_MAM_dom - no_errors MAMDC2 HGNC ENSG00000165072 tier1 - - 33 0 0.00 33 16 32.65 MIR514A2 0 genome.wustl.edu 37 X 146363520 146363520 + RNA SNP A A C TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 X 146363520 146363520 A C SNP MIR514A2 ENST00000385131 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR514A2 HGNC ENSG00000207866 tier1 - - 22 0 0.00 14 14 50.00 MOB1B 0 genome.wustl.edu 37 4 71840984 71840984 + Silent SNP G G T TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 4 71840984 71840984 G T SNP MOB1B ENST00000309395 human ensembl 74_37 +1 known silent c.390 p.T130 0.183 pfam_Mob1_phocein,superfamily_Mob1_phocein pfam_Mob1_phocein,superfamily_Mob1_phocein - no_errors MOB1B HGNC ENSG00000173542 48 0 0.00 27 2 6.90 MOSPD1 0 genome.wustl.edu 37 X 134033227 134033227 + RNA DEL T T - TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 X 134033227 134033227 T - DEL MOSPD1 ENST00000462060 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors MOSPD1 HGNC ENSG00000101928 tier1 30 0 0.00 26 5 16.13 NFE2L2 0 genome.wustl.edu 37 2 178098944 178098945 + Frame_Shift_Ins INS - - T TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 2 178098944 178098945 - T INS NFE2L2 ENST00000397062 human ensembl 74_37 -1 known frame_shift_ins c.101_100 p.R34fs 1.000:1.000 NULL pfam_bZIP,superfamily_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP - no_errors NFE2L2 HGNC ENSG00000116044 tier1 55 0 0.00 17 2 10.53 NFE2L2 0 genome.wustl.edu 37 2 178098928 178098928 + Missense_Mutation SNP G G T TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 2 178098928 178098928 G T SNP NFE2L2 ENST00000397062 human ensembl 74_37 -1 known missense c.117 p.F39L 1.000 NULL pfam_bZIP,superfamily_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP - no_errors NFE2L2 HGNC ENSG00000116044 60 0 0.00 18 6 25.00 NR1H4 0 genome.wustl.edu 37 12 100955761 100955761 + Missense_Mutation SNP G G T TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 12 100955761 100955761 G T SNP NR1H4 ENST00000551379 human ensembl 74_37 +1 known missense c.1207 p.V403F 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt,prints_ThyrH_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt - no_errors NR1H4 HGNC ENSG00000012504 28 0 0.00 20 9 31.03 OLAH 0 genome.wustl.edu 37 10 15091715 15091715 + Silent SNP C C A TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 10 15091715 15091715 C A SNP OLAH ENST00000378217 human ensembl 74_37 +1 known silent c.114 p.G38 0.992 NULL pfam_Thioesterase - no_errors OLAH HGNC ENSG00000152463 tier1 - - 54 0 0.00 19 18 48.65 OR6C2 0 genome.wustl.edu 37 12 55846702 55846702 + Silent SNP C C T TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 12 55846702 55846702 C T SNP OR6C2 ENST00000322678 human ensembl 74_37 +1 known silent c.705 p.A235 0.961 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6C2 HGNC ENSG00000179695 tier1 - - 46 0 0.00 44 18 29.03 PI4KB 0 genome.wustl.edu 37 1 151278723 151278723 + Silent SNP G G A TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 1 151278723 151278723 G A SNP PI4KB ENST00000271657 human ensembl 74_37 -1 known silent c.1335 p.P445 0.020 superfamily_Kinase-like_dom pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PI4KB HGNC ENSG00000143393 tier1 - - 54 0 0.00 33 39 54.17 PIK3C2A 0 genome.wustl.edu 37 11 17111318 17111318 + Silent SNP T T C TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 11 17111318 17111318 T C SNP PIK3C2A ENST00000265970 human ensembl 74_37 -1 known silent c.5028 p.K1676 1.000 superfamily_C2_dom,smart_C2_dom pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,pfscan_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2A HGNC ENSG00000011405 tier1 - - 31 0 0.00 44 13 22.81 PMFBP1 0 genome.wustl.edu 37 16 72154011 72154011 + Missense_Mutation SNP G G A TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 16 72154011 72154011 G A SNP PMFBP1 ENST00000355636 human ensembl 74_37 -1 known missense c.2371 p.R791C 0.002 NULL NULL - no_errors PMFBP1 HGNC ENSG00000118557 tier1 - - 78 0 0.00 48 27 35.06 PNOC 0 genome.wustl.edu 37 8 28196578 28196578 + Missense_Mutation SNP G G A TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 8 28196578 28196578 G A SNP PNOC ENST00000301908 human ensembl 74_37 +1 known missense c.148 p.E50K 0.996 pfam_Opioid_neupept,prints_Nociceptin,prints_Opioid_neupept pfam_Opioid_neupept,prints_Nociceptin,prints_Opioid_neupept - no_errors PNOC HGNC ENSG00000168081 tier1 - - 46 0 0.00 10 19 65.52 POLR3A 0 genome.wustl.edu 37 10 79784767 79784767 + Missense_Mutation SNP C C T TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 10 79784767 79784767 C T SNP POLR3A ENST00000372371 human ensembl 74_37 -1 known missense c.452 p.R151Q 0.986 pfam_RNA_pol_Rpb1_1 pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,smart_RNA_pol_N - no_errors POLR3A HGNC ENSG00000148606 42 0 0.00 35 2 5.41 POTEJ 0 genome.wustl.edu 37 2 131414147 131414147 + Missense_Mutation SNP G G C TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 2 131414147 131414147 G C SNP POTEJ ENST00000409602 human ensembl 74_37 +1 novel missense c.1814 p.R605T 0.012 NULL pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related - no_errors POTEJ HGNC ENSG00000222038 tier1 - - 317 0 0.00 152 73 32.44 POU6F2 0 genome.wustl.edu 37 7 39247015 39247015 + Missense_Mutation SNP G G A TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 7 39247015 39247015 G A SNP POU6F2 ENST00000403058 human ensembl 74_37 +1 known missense c.307 p.A103T 1.000 NULL pfam_POU_specific,pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU6F2 HGNC ENSG00000106536 tier1 - - 30 0 0.00 24 4 14.29 PPRC1 0 genome.wustl.edu 37 10 103908361 103908361 + RNA SNP G G T TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 10 103908361 103908361 G T SNP PPRC1 ENST00000495914 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PPRC1 HGNC ENSG00000148840 tier1 - - 55 0 0.00 37 15 28.85 RAB2A 0 genome.wustl.edu 37 8 61496839 61496839 + Missense_Mutation SNP G G A TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 8 61496839 61496839 G A SNP RAB2A ENST00000262646 human ensembl 74_37 +1 known missense c.259 p.D87N 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB2A HGNC ENSG00000104388 tier1 - - 66 0 0.00 43 12 21.82 RGL1 0 genome.wustl.edu 37 1 183867029 183867029 + Missense_Mutation SNP A A G TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 1 183867029 183867029 A G SNP RGL1 ENST00000304685 human ensembl 74_37 +1 known missense c.1333 p.M445V 1.000 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RGL1 HGNC ENSG00000143344 tier1 - - 35 0 0.00 31 11 26.19 RPE65 0 genome.wustl.edu 37 1 68906589 68906589 + Missense_Mutation SNP C C A TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 1 68906589 68906589 C A SNP RPE65 ENST00000262340 human ensembl 74_37 -1 known missense c.590 p.G197V 1.000 pfam_Carotenoid_Oase pfam_Carotenoid_Oase - no_errors RPE65 HGNC ENSG00000116745 tier1 - - 28 0 0.00 11 9 45.00 SALL1 0 genome.wustl.edu 37 16 51174133 51174133 + Missense_Mutation SNP G G A TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 16 51174133 51174133 G A SNP SALL1 ENST00000251020 human ensembl 74_37 -1 known missense c.2000 p.S667F 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL1 HGNC ENSG00000103449 tier1 - - 61 0 0.00 29 19 38.78 SBSN 0 genome.wustl.edu 37 19 36018071 36018071 + Silent SNP C C T TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 19 36018071 36018071 C T SNP SBSN ENST00000452271 human ensembl 74_37 -1 novel silent c.1113 p.G371 0.630 NULL NULL - no_errors SBSN HGNC ENSG00000189001 tier1 - - 136 0 0.00 87 43 33.08 SGIP1 0 genome.wustl.edu 37 1 67108534 67108534 + Silent SNP C C T TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 1 67108534 67108534 C T SNP SGIP1 ENST00000237247 human ensembl 74_37 +1 known silent c.282 p.P94 0.048 NULL pfam_Muniscin_C-term_mu_dom,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C - no_errors SGIP1 HGNC ENSG00000118473 44 0 0.00 36 8 18.18 SKOR1 0 genome.wustl.edu 37 15 68122570 68122570 + Missense_Mutation SNP G G A TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 15 68122570 68122570 G A SNP SKOR1 ENST00000380035 human ensembl 74_37 +1 known missense c.2449 p.E817K 1.000 NULL pfam_Transform_Ski,pfam_c-SKI_SMAD4-bd_dom,superfamily_DNA-bd_dom_put,superfamily_SAND_dom-like - no_errors SKOR1 HGNC ENSG00000188779 tier1 - - 68 0 0.00 17 34 66.67 SLC18A3 0 genome.wustl.edu 37 10 50820104 50820104 + Missense_Mutation SNP G G T TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 10 50820104 50820104 G T SNP SLC18A3 ENST00000374115 human ensembl 74_37 +1 known missense c.1318 p.G440C 0.999 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC18A3 HGNC ENSG00000187714 tier1 - - 63 0 0.00 53 4 7.02 STAB1 0 genome.wustl.edu 37 3 52551965 52551965 + Nonsense_Mutation SNP C C A TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 3 52551965 52551965 C A SNP STAB1 ENST00000321725 human ensembl 74_37 +1 known nonsense c.4707 p.C1569* 0.035 superfamily_FAS1_domain,smart_EG-like_dom,pfscan_EG-like_dom pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd_dom,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB1 HGNC ENSG00000010327 tier1 - - 31 0 0.00 14 13 48.15 STXBP6 0 genome.wustl.edu 37 14 25325274 25325274 + Missense_Mutation SNP C C A TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 14 25325274 25325274 C A SNP STXBP6 ENST00000323944 human ensembl 74_37 -1 known missense c.319 p.A107S 1.000 NULL pfam_Synaptobrevin,pfscan_Synaptobrevin - no_errors STXBP6 HGNC ENSG00000168952 tier1 - - 28 0 0.00 24 10 29.41 SUPT5H 0 genome.wustl.edu 37 19 39963105 39963105 + Silent SNP C C T TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 19 39963105 39963105 C T SNP SUPT5H ENST00000432763 human ensembl 74_37 +1 known silent c.2007 p.I669 1.000 pirsf_TF_Spt5 pfam_TF_Spt5_NGN-domain,pfam_KOW,pfam_Spt5_N,superfamily_Translation_prot_SH3-like,smart_Transcrpt_antiterm_NusG_N_dom,smart_KOW,pirsf_TF_Spt5 - no_errors SUPT5H HGNC ENSG00000196235 tier1 - - 75 0 0.00 54 29 34.94 SYNE1 0 genome.wustl.edu 37 6 152614873 152614873 + Missense_Mutation SNP C C G TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 6 152614873 152614873 C G SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.17862 p.K5954N 1.000 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 38 0 0.00 45 3 6.25 TAOK2 0 genome.wustl.edu 37 16 29998794 29998794 + Silent SNP C C A TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 16 29998794 29998794 C A SNP TAOK2 ENST00000308893 human ensembl 74_37 +1 known silent c.3201 p.G1067 0.945 NULL pfam_Prot_kinase_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_dom - no_errors TAOK2 HGNC ENSG00000149930 tier1 - - 74 0 0.00 51 38 42.70 TCEB3B 0 genome.wustl.edu 37 18 44560391 44560391 + Missense_Mutation SNP G G T TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 18 44560391 44560391 G T SNP TCEB3B ENST00000332567 human ensembl 74_37 -1 known missense c.1245 p.N415K 0.000 NULL pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub - no_errors TCEB3B HGNC ENSG00000206181 92 0 0.00 55 3 5.17 TECTA 0 genome.wustl.edu 37 11 120998865 120998865 + Missense_Mutation SNP G G A TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 11 120998865 120998865 G A SNP TECTA ENST00000264037 human ensembl 74_37 +1 known missense c.2179 p.A727T 0.899 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors TECTA HGNC ENSG00000109927 tier1 - - 35 0 0.00 26 10 27.78 TEPP 0 genome.wustl.edu 37 16 58018605 58018605 + Silent SNP G G A TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 16 58018605 58018605 G A SNP TEPP ENST00000290871 human ensembl 74_37 +1 known silent c.516 p.A172 0.037 NULL NULL - no_errors TEPP HGNC ENSG00000159648 tier1 - - 83 0 0.00 52 27 34.18 TEX14 0 genome.wustl.edu 37 17 56663385 56663385 + Missense_Mutation SNP C C A TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 17 56663385 56663385 C A SNP TEX14 ENST00000240361 human ensembl 74_37 -1 known missense c.2865 p.W955C 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom - no_errors TEX14 HGNC ENSG00000121101 tier1 - - 52 0 0.00 23 12 34.29 TLE1 0 genome.wustl.edu 37 9 84268949 84268949 + Silent SNP A A C TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 9 84268949 84268949 A C SNP TLE1 ENST00000376499 human ensembl 74_37 -1 known silent c.237 p.T79 0.990 pfam_Groucho/TLE_N pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance - no_errors TLE1 HGNC ENSG00000196781 tier1 - - 27 0 0.00 16 5 23.81 TMCO4 0 genome.wustl.edu 37 1 20066381 20066381 + Missense_Mutation SNP A A C TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 1 20066381 20066381 A C SNP TMCO4 ENST00000294543 human ensembl 74_37 -1 known missense c.1115 p.V372G 1.000 pfam_DUF726,pfam_DUF900_hydrolase pfam_DUF726,pfam_DUF900_hydrolase - no_errors TMCO4 HGNC ENSG00000162542 tier1 - - 37 0 0.00 39 25 39.06 TNIP1 0 genome.wustl.edu 37 5 150443229 150443229 + Silent SNP C C A TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 5 150443229 150443229 C A SNP TNIP1 ENST00000315050 human ensembl 74_37 -1 known silent c.216 p.L72 0.006 NULL superfamily_ARM-type_fold - no_errors TNIP1 HGNC ENSG00000145901 tier1 - - 94 0 0.00 68 45 39.82 TP53 0 genome.wustl.edu 37 17 7577595 7577595 + Frame_Shift_Del DEL C C - TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 17 7577595 7577595 C - DEL TP53 ENST00000269305 human ensembl 74_37 -1 known frame_shift_del c.686 p.C229fs 0.864 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 tier1 72 0 0.00 27 88 76.52 TP53 0 genome.wustl.edu 37 17 7577595 7577595 + Missense_Mutation SNP C C A TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 17 7577595 7577595 C A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.686 p.C229F 0.864 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 72 0 0.00 20 7 6.09 TP53BP1 0 genome.wustl.edu 37 15 43748741 43748741 + Missense_Mutation SNP T T G TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 15 43748741 43748741 T G SNP TP53BP1 ENST00000382044 human ensembl 74_37 -1 known missense c.2065 p.M689L 0.014 NULL pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TP53BP1 HGNC ENSG00000067369 tier1 - - 39 0 0.00 10 20 66.67 TSC2 0 genome.wustl.edu 37 16 2111977 2111977 + Nonsense_Mutation SNP G G T TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 16 2111977 2111977 G T SNP TSC2 ENST00000219476 human ensembl 74_37 +1 known nonsense c.1225 p.E409* 0.995 pfam_Tuberin_N,superfamily_ARM-type_fold pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom,prints_Tuberin - no_errors TSC2 HGNC ENSG00000103197 tier1 - - 86 0 0.00 57 24 29.63 TTN 0 genome.wustl.edu 37 2 179588638 179588638 + Silent SNP G G A TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 2 179588638 179588638 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.17616 p.C5872 0.472 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_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_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 33 0 0.00 28 6 17.65 UBXN1 0 genome.wustl.edu 37 11 62444034 62444035 + Frame_Shift_Ins INS - - C TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 11 62444034 62444035 - C INS UBXN1 ENST00000533000 human ensembl 74_37 -1 putative frame_shift_ins c.303_302 p.*101fs 1.000:0.977 NULL NULL - no_errors UBXN1 HGNC ENSG00000162191 tier1 83 0 0.00 54 28 34.15 UNC5D 0 genome.wustl.edu 37 8 35425616 35425616 + Missense_Mutation SNP G G T TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 8 35425616 35425616 G T SNP UNC5D ENST00000404895 human ensembl 74_37 +1 known missense c.323 p.G108V 1.000 NULL pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death_domain,pfam_Immunoglobulin,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom - no_errors UNC5D HGNC ENSG00000156687 tier1 - - 60 0 0.00 30 23 43.40 ZNFX1 0 genome.wustl.edu 37 20 47855789 47855789 + Missense_Mutation SNP G G T TCGA-LN-A5U5-01A-21D-A28B-09 TCGA-LN-A5U5-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83e92f18-198e-46bc-b4be-f3b867579909 6f06991d-86dd-42a1-8ea0-8d832543ddb8 20 47855789 47855789 G T SNP ZNFX1 ENST00000371754 human ensembl 74_37 -1 known missense c.3475 p.R1159S 0.895 NULL superfamily_P-loop_NTPase,superfamily_ARM-type_fold - no_errors ZNFX1 HGNC ENSG00000124201 46 0 0.00 57 3 5.00