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 ACACB 32 genome.wustl.edu 37 12 109687835 109687835 + Missense_Mutation SNP G G C TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 12 109687835 109687835 G C SNP ACACB ENST00000338432 human ensembl 70_37 +1 known missense c.5716 p.E1906Q 1.000 pfam_Carboxyl_trans,pfscan_COA_CT_N pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACB HGNC ANKRD28 23243 genome.wustl.edu 37 3 15838150 15838151 + RNA INS - - TT TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 3 15838150 15838151 - TT INS ANKRD28 ENST00000461696 human ensembl 70_37 -1 known rna NULL NULL 0.016:0.428 - - - no_errors ANKRD28 HGNC ANKRD32 84250 genome.wustl.edu 37 5 94027876 94027876 + Silent SNP C C T TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 5 94027876 94027876 C T SNP ANKRD32 ENST00000265140 human ensembl 70_37 +1 known silent c.2610 p.L870 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD32 HGNC APLN 8862 genome.wustl.edu 37 X 128782615 128782615 + Missense_Mutation SNP G G T TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 X 128782615 128782615 G T SNP APLN ENST00000427399 human ensembl 70_37 -1 known missense c.110 p.P37Q 1.000 NULL NULL - no_errors APLN HGNC ARHGAP35 2909 genome.wustl.edu 37 19 47421954 47421954 + Missense_Mutation SNP G G C TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 19 47421954 47421954 G C SNP ARHGAP35 ENST00000404338 human ensembl 70_37 +1 known missense c.22 p.D8H 1.000 NULL pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP35 HGNC ATMIN 23300 genome.wustl.edu 37 16 81077772 81077772 + Nonsense_Mutation SNP C C T TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 16 81077772 81077772 C T SNP ATMIN ENST00000299575 human ensembl 70_37 +1 known nonsense c.1669 p.Q557* 0.925 NULL smart_Znf_C2H2-like - no_errors ATMIN HGNC BCKDK 10295 genome.wustl.edu 37 16 31121606 31121606 + Silent SNP C C G TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 16 31121606 31121606 C G SNP BCKDK ENST00000219794 human ensembl 70_37 +1 known silent c.504 p.L168 0.997 pfam_BCDHK/PDK_N,superfamily_BCDHK/PDK_N pfam_BCDHK/PDK_N,pfam_ATPase-like_ATP-bd,superfamily_BCDHK/PDK_N,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,pfscan_Sig_transdc_His_kinase_core,prints_Sig_transdc_His_kin-like_C - no_errors BCKDK HGNC BSN 8927 genome.wustl.edu 37 3 49701900 49701900 + Missense_Mutation SNP G G A TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 3 49701900 49701900 G A SNP BSN ENST00000296452 human ensembl 70_37 +1 known missense c.11653 p.A3885T 0.832 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC C6 729 genome.wustl.edu 37 5 41172399 41172399 + Missense_Mutation SNP G G A TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 5 41172399 41172399 G A SNP C6 ENST00000263413 human ensembl 70_37 -1 known missense c.1219 p.R407C 0.587 pfam_MACPF,smart_MACPF pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_Thrombospondin_1_rpt,pfam_LDrepeatLR_classA_rpt,pfam_Kazal-type_dom,superfamily_Complement_control_module,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin - no_errors C6 HGNC CA6 765 genome.wustl.edu 37 1 9027808 9027808 + Missense_Mutation SNP C C T TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 1 9027808 9027808 C T SNP CA6 ENST00000377443 human ensembl 70_37 +1 known missense c.662 p.T221M 0.991 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA6 HGNC CASP14 23581 genome.wustl.edu 37 19 15164616 15164616 + Missense_Mutation SNP G G A TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 19 15164616 15164616 G A SNP CASP14 ENST00000221740 human ensembl 70_37 +1 known missense c.250 p.V84M 0.732 pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core - no_errors CASP14 HGNC CDKN2A 1029 genome.wustl.edu 37 9 21994297 21994297 + Missense_Mutation SNP G G A TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 9 21994297 21994297 G A SNP CDKN2A ENST00000361570 human ensembl 70_37 -1 known missense c.157 p.R53W 0.269 pfam_Cyclin_kinase-Inhib_2A pfam_Cyclin_kinase-Inhib_2A - no_errors CDKN2A HGNC CERS3 204219 genome.wustl.edu 37 15 100942982 100942982 + Missense_Mutation SNP T T C TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 15 100942982 100942982 T C SNP CERS3 ENST00000284382 human ensembl 70_37 -1 known missense c.1088 p.D363G 0.846 pirsf_Longevity_assurance_LAG1_LAC1 pirsf_Longevity_assurance_LAG1_LAC1,pfam_TLC-dom,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,smart_TLC-dom,pfscan_TLC-dom,pfscan_Homeodomain - no_errors CERS3 HGNC CLIP1 6249 genome.wustl.edu 37 12 122835663 122835663 + Nonsense_Mutation SNP C C A TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 12 122835663 122835663 C A SNP CLIP1 ENST00000540338 human ensembl 70_37 -1 known nonsense c.1396 p.E466* 1.000 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Znf_CCHC,superfamily_Prefoldin,pfscan_CAP-Gly_domain - no_errors CLIP1 HGNC COL20A1 57642 genome.wustl.edu 37 20 61950516 61950516 + Missense_Mutation SNP G G A TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 20 61950516 61950516 G A SNP COL20A1 ENST00000326996 human ensembl 70_37 +1 known missense c.2770 p.E924K 0.866 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL20A1 HGNC COQ3 51805 genome.wustl.edu 37 6 99831699 99831699 + Silent SNP A A G TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 6 99831699 99831699 A G SNP COQ3 ENST00000254759 human ensembl 70_37 -1 known silent c.108 p.V36 0.669 NULL pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_Mycolic_cyclopropane_synthase,pfam_UbiE/COQ5_MeTrFase,pfam_Small_mtfrase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_SAM-MeTfrase_NodS-related,tigrfam_UbiG_MeTrfase - no_errors COQ3 HGNC COQ3 51805 genome.wustl.edu 37 6 99831701 99831701 + Splice_Site SNP C C T TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 6 99831701 99831701 C T SNP COQ3 ENST00000254759 human ensembl 70_37 -1 known splice_site c.107-1 e2-1 0.683 - - - no_errors COQ3 HGNC DDX26B 203522 genome.wustl.edu 37 X 134716150 134716150 + RNA SNP C C T TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 X 134716150 134716150 C T SNP DDX26B ENST00000481908 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors DDX26B HGNC DPP10 57628 genome.wustl.edu 37 2 116538475 116538475 + Missense_Mutation SNP C C G TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 2 116538475 116538475 C G SNP DPP10 ENST00000393147 human ensembl 70_37 +1 known missense c.1399 p.R467G 1.000 pfam_Peptidase_S9B pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors DPP10 HGNC ENSG00000237357 0 genome.wustl.edu 37 9 44402547 44402547 + RNA SNP G G A TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 9 44402547 44402547 G A SNP ENSG00000237357 ENST00000435586 human ensembl 70_37 +1 known rna NULL NULL 0.078 - - - no_errors RP11-475I24.3 Clone_based_vega_gene ENSG00000266974 0 genome.wustl.edu 37 19 36605678 36605678 + RNA SNP T T C TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 19 36605678 36605678 T C SNP ENSG00000266974 ENST00000592532 human ensembl 70_37 +1 known rna NULL NULL 0.028 - - - no_errors AD001527.4 Clone_based_vega_gene ENSG00000267535 0 genome.wustl.edu 37 17 74846569 74846569 + RNA SNP C C T TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 17 74846569 74846569 C T SNP ENSG00000267535 ENST00000592919 human ensembl 70_37 +1 known rna NULL NULL 0.008 - - - no_errors RP11-87G24.5 Clone_based_vega_gene GABRG1 2565 genome.wustl.edu 37 4 46060368 46060368 + Missense_Mutation SNP G G A TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 4 46060368 46060368 G A SNP GABRG1 ENST00000295452 human ensembl 70_37 -1 known missense c.782 p.T261I 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg1_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRG1 HGNC GALNT15 117248 genome.wustl.edu 37 3 16273312 16273312 + Missense_Mutation SNP G G T TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 3 16273312 16273312 G T SNP GALNTL2 ENST00000437509 human ensembl 70_37 +1 putative missense c.1786 p.A596S 0.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNTL2 HGNC GPR50 9248 genome.wustl.edu 37 X 150348926 150348926 + Missense_Mutation SNP G G A TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 X 150348926 150348926 G A SNP GPR50 ENST00000218316 human ensembl 70_37 +1 known missense c.871 p.A291T 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Mel_rcpt_1X,prints_GPCR_Rhodpsn,prints_Melatonin_rcpt,prints_NPY_rcpt - no_errors GPR50 HGNC GSTM3 2947 genome.wustl.edu 37 1 110279794 110279794 + RNA SNP G G A TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 1 110279794 110279794 G A SNP GSTM3 ENST00000476321 human ensembl 70_37 -1 known rna NULL NULL 0.985 - - - no_errors GSTM3 HGNC HSD17B4 3295 genome.wustl.edu 37 5 118832280 118832280 + Missense_Mutation SNP C C T TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 5 118832280 118832280 C T SNP HSD17B4 ENST00000256216 human ensembl 70_37 +1 known missense c.911 p.S304L 0.921 NULL pfam_MaoC_deHydtase,pfam_DH_sc/Rdtase_SDR,pfam_SCP2_sterol-bd_dom,pfam_PKS_KR,superfamily_SCP2_sterol-bd_dom,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH - no_errors HSD17B4 HGNC ICOSLG 23308 genome.wustl.edu 37 21 45649510 45649510 + Missense_Mutation SNP A A G TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 21 45649510 45649510 A G SNP ICOSLG ENST00000400379 human ensembl 70_37 -1 putative missense c.1325 p.L442P 0.000 NULL pfam_Ig_V-set,pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like - no_errors ICOSLG HGNC JAKMIP1 152789 genome.wustl.edu 37 4 6086678 6086678 + Silent SNP G G A TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 4 6086678 6086678 G A SNP JAKMIP1 ENST00000409021 human ensembl 70_37 -1 known silent c.849 p.D283 0.786 NULL NULL - no_errors JAKMIP1 HGNC JRKL 8690 genome.wustl.edu 37 11 96124324 96124324 + Missense_Mutation SNP G G A TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 11 96124324 96124324 G A SNP JRKL ENST00000332349 human ensembl 70_37 +1 known missense c.511 p.E171K 0.762 pfam_DDE_SF_endonuclease_CENPB-like pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors JRKL HGNC KCNJ4 3761 genome.wustl.edu 37 22 38824095 38824095 + Missense_Mutation SNP G G A TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 22 38824095 38824095 G A SNP KCNJ4 ENST00000303592 human ensembl 70_37 -1 known missense c.43 p.R15W 1.000 pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.3 - no_errors KCNJ4 HGNC KIAA0040 9674 genome.wustl.edu 37 1 175129897 175129897 + Nonsense_Mutation SNP G G A TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 1 175129897 175129897 G A SNP KIAA0040 ENST00000423313 human ensembl 70_37 -1 known nonsense c.253 p.Q85* 0.973 NULL NULL - no_errors KIAA0040 HGNC KIF3B 9371 genome.wustl.edu 37 20 30898823 30898823 + Silent SNP C C A TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 20 30898823 30898823 C A SNP KIF3B ENST00000375712 human ensembl 70_37 +1 known silent c.1243 p.R415 0.992 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF3B HGNC LAMA2 3908 genome.wustl.edu 37 6 129618862 129618862 + Silent SNP C C T TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 6 129618862 129618862 C T SNP LAMA2 ENST00000421865 human ensembl 70_37 +1 known silent c.2889 p.G963 0.484 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA2 HGNC LHX8 431707 genome.wustl.edu 37 1 75602794 75602794 + Missense_Mutation SNP G G A TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 1 75602794 75602794 G A SNP LHX8 ENST00000294638 human ensembl 70_37 +1 known missense c.115 p.E39K 1.000 NULL pfam_Znf_LIM,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeodomain,pfscan_Znf_LIM,pfscan_Homeodomain - no_errors LHX8 HGNC LOC100129060 100129060 genome.wustl.edu 37 3 50153540 50153540 + RNA SNP C C T TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 3 50153540 50153540 C T SNP LOC100129060 ENST00000437204 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-493K19.3 Clone_based_vega_gene LOC100996870 100996870 genome.wustl.edu 37 9 66466586 66466586 + RNA SNP G G A TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 9 66466586 66466586 G A SNP LOC100996870 ENST00000424345 human ensembl 70_37 +1 known rna NULL NULL 0.021 - - - no_errors RP11-262H14.1 Clone_based_vega_gene LOC100996870 100996870 genome.wustl.edu 37 9 66466602 66466602 + RNA SNP C C T TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 9 66466602 66466602 C T SNP LOC100996870 ENST00000424345 human ensembl 70_37 +1 known rna NULL NULL 0.008 - - - no_errors RP11-262H14.1 Clone_based_vega_gene MALAT1 378938 genome.wustl.edu 37 11 65272311 65272311 + RNA SNP T T A TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 11 65272311 65272311 T A SNP MALAT1 ENST00000534336 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MALAT1 HGNC MAML1 9794 genome.wustl.edu 37 5 179201801 179201801 + Missense_Mutation SNP C C G TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 5 179201801 179201801 C G SNP MAML1 ENST00000292599 human ensembl 70_37 +1 known missense c.2974 p.L992V 1.000 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML1 HGNC MESP2 145873 genome.wustl.edu 37 15 90320500 90320500 + Silent SNP C C T TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 15 90320500 90320500 C T SNP MESP2 ENST00000341735 human ensembl 70_37 +1 known silent c.912 p.A304 0.565 NULL pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors MESP2 HGNC MIR5010 100847046 genome.wustl.edu 37 17 40666231 40666231 + RNA SNP G G A TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 17 40666231 40666231 G A SNP MIR5010 ENST00000582846 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MIR5010 HGNC KMT2C 58508 genome.wustl.edu 37 7 151848547 151848548 + Frame_Shift_Ins INS - - T TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 7 151848547 151848548 - T INS MLL3 ENST00000355193 human ensembl 70_37 -1 known frame_shift_ins c.12817_12816 p.D4272fs 1.000:1.000 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 KMT2C 58508 genome.wustl.edu 37 7 151902278 151902278 + Nonsense_Mutation SNP G G A TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 7 151902278 151902278 G A SNP MLL3 ENST00000355193 human ensembl 70_37 -1 known nonsense c.3874 p.R1292* 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 MUC12 10071 genome.wustl.edu 37 7 100642488 100642488 + Missense_Mutation SNP T T A TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 7 100642488 100642488 T A SNP MUC12 ENST00000379442 human ensembl 70_37 +1 known missense c.9073 p.S3025T 0.009 NULL pfam_SEA - no_errors MUC12 HGNC MUC12 10071 genome.wustl.edu 37 7 100646665 100646665 + Missense_Mutation SNP C C A TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 7 100646665 100646665 C A SNP MUC12 ENST00000379442 human ensembl 70_37 +1 known missense c.13250 p.T4417N 0.001 NULL pfam_SEA - no_errors MUC12 HGNC NES 10763 genome.wustl.edu 37 1 156641574 156641574 + Missense_Mutation SNP C C A TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 1 156641574 156641574 C A SNP NES ENST00000368223 human ensembl 70_37 -1 known missense c.2406 p.E802D 0.920 NULL pfam_F - no_errors NES HGNC NPDC1 56654 genome.wustl.edu 37 9 139935437 139935437 + Splice_Site SNP C C T TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 9 139935437 139935437 C T SNP NPDC1 ENST00000371600 human ensembl 70_37 -1 known splice_site c.620-1 e3-1 0.979 - - - no_errors NPDC1 HGNC NXF3 56000 genome.wustl.edu 37 X 102338372 102338372 + Missense_Mutation SNP G G A TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 X 102338372 102338372 G A SNP NXF3 ENST00000395065 human ensembl 70_37 -1 known missense c.494 p.A165V 0.002 pfam_Tap_RNA-bd pfam_Tap_RNA-bd,pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk - no_errors NXF3 HGNC OVCH1 341350 genome.wustl.edu 37 12 29639271 29639271 + Silent SNP C C T TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 12 29639271 29639271 C T SNP OVCH1 ENST00000318184 human ensembl 70_37 -1 known silent c.903 p.R301 0.002 NULL pfam_Peptidase_S1_S6,pfam_CUB,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,smart_Peptidase_S1_S6,smart_CUB,pfscan_CUB,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors OVCH1 HGNC PARP15 165631 genome.wustl.edu 37 3 122345698 122345698 + Missense_Mutation SNP C C A TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 3 122345698 122345698 C A SNP PARP15 ENST00000464300 human ensembl 70_37 +1 known missense c.1256 p.T419K 0.000 smart_A1pp,pfscan_A1pp pfam_A1pp,pfam_Poly(ADP-ribose)pol_cat_dom,smart_A1pp,pfscan_A1pp,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP15 HGNC PKD2L1 9033 genome.wustl.edu 37 10 102089754 102089754 + Missense_Mutation SNP C C T TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 10 102089754 102089754 C T SNP PKD2L1 ENST00000318222 human ensembl 70_37 -1 known missense c.107 p.R36K 0.003 NULL pfam_PKD1_2_channel,pfam_Ion_trans_dom,prints_PKD_2,prints_PKD_1 - no_errors PKD2L1 HGNC PLCB1 23236 genome.wustl.edu 37 20 8755229 8755229 + Missense_Mutation SNP C C A TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 20 8755229 8755229 C A SNP PLCB1 ENST00000338037 human ensembl 70_37 +1 known missense c.2974 p.Q992K 1.000 pirsf_PLC-beta pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB1 HGNC PLEKHG1 57480 genome.wustl.edu 37 6 151152826 151152826 + Missense_Mutation SNP C C T TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 6 151152826 151152826 C T SNP PLEKHG1 ENST00000358517 human ensembl 70_37 +1 known missense c.2579 p.A860V 0.985 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG1 HGNC POLD2 5425 genome.wustl.edu 37 7 44156597 44156597 + Missense_Mutation SNP G G A TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 7 44156597 44156597 G A SNP POLD2 ENST00000406581 human ensembl 70_37 -1 known missense c.599 p.S200F 1.000 pfam_DNA_pol_alpha/epsilon_bsu pfam_DNA_pol_alpha/epsilon_bsu - no_errors POLD2 HGNC POLQ 10721 genome.wustl.edu 37 3 121263576 121263576 + Missense_Mutation SNP G G A TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 3 121263576 121263576 G A SNP POLQ ENST00000264233 human ensembl 70_37 -1 known missense c.341 p.S114L 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A - no_errors POLQ HGNC PRPF8 10594 genome.wustl.edu 37 17 1560004 1560004 + Missense_Mutation SNP G G A TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 17 1560004 1560004 G A SNP PRPF8 ENST00000304992 human ensembl 70_37 -1 known missense c.5557 p.P1853S 1.000 pfam_PRP8_domainIV pfam_PROCN,pfam_PRP8_domainIV,pfam_Prp8_U6-snRNA-bd,pfam_Pre-mRNA-splicing_factor-8,pfam_Prp8_U5-snRNA-bd,pfam_PRO_C,pfam_RRM_spliceosomal_PrP8,pfam_JAB1_Mov34_MPN_PAD1,superfamily_Cupredoxin,superfamily_Histone-fold,smart_JAB1_Mov34_MPN_PAD1 - no_errors PRPF8 HGNC PTMA 5757 genome.wustl.edu 37 2 232576648 232576648 + Nonsense_Mutation SNP G G T TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 2 232576648 232576648 G T SNP PTMA ENST00000341369 human ensembl 70_37 +1 known nonsense c.169 p.E57* 1.000 pfam_Pro/parathymosin pfam_Pro/parathymosin - no_errors PTMA HGNC RBM20 282996 genome.wustl.edu 37 10 112590901 112590901 + Missense_Mutation SNP G G A TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 10 112590901 112590901 G A SNP RBM20 ENST00000369519 human ensembl 70_37 +1 known missense c.3534 p.M1178I 0.675 smart_Znf_U1,pfscan_Znf_C2H2_matrin smart_Znf_U1,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom - no_errors RBM20 HGNC RBM4B 83759 genome.wustl.edu 37 11 66444539 66444539 + Silent SNP C C G TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 11 66444539 66444539 C G SNP RBM4B ENST00000310046 human ensembl 70_37 -1 known silent c.12 p.L4 0.996 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_Znf_CCHC,smart_RRM_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_RRM_dom - no_errors RBM4B HGNC REV3L 5980 genome.wustl.edu 37 6 111689105 111689105 + Silent SNP A A G TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 6 111689105 111689105 A G SNP REV3L ENST00000358835 human ensembl 70_37 -1 known silent c.5886 p.N1962 1.000 superfamily_RNaseH-like_dom pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B - no_errors REV3L HGNC RGPD4 285190 genome.wustl.edu 37 2 108487587 108487587 + Missense_Mutation SNP C C A TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 2 108487587 108487587 C A SNP RGPD4 ENST00000354986 human ensembl 70_37 +1 known missense c.3127 p.Q1043K 1.000 smart_Ran_bind_dom,pfscan_Ran_bind_dom pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD4 HGNC RPP30 10556 genome.wustl.edu 37 10 92631788 92631788 + Silent SNP G G A TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 10 92631788 92631788 G A SNP RPP30 ENST00000413330 human ensembl 70_37 +1 known silent c.45 p.L15 0.498 superfamily_Pol/histidinol_Pase-like pfam_RNase_P_p30,superfamily_Pol/histidinol_Pase-like - no_errors RPP30 HGNC SCN8A 6334 genome.wustl.edu 37 12 52159647 52159647 + Missense_Mutation SNP G G A TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 12 52159647 52159647 G A SNP SCN8A ENST00000354534 human ensembl 70_37 +1 known missense c.2737 p.E913K 0.987 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN8A HGNC SCN8A 6334 genome.wustl.edu 37 12 52159746 52159746 + Missense_Mutation SNP G G A TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 12 52159746 52159746 G A SNP SCN8A ENST00000354534 human ensembl 70_37 +1 known missense c.2836 p.E946K 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN8A HGNC SERPINA3 12 genome.wustl.edu 37 14 95085798 95085798 + Missense_Mutation SNP G G A TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 14 95085798 95085798 G A SNP SERPINA3 ENST00000553947 human ensembl 70_37 +1 known missense c.985 p.E329K 0.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA3 HGNC SH3D21 79729 genome.wustl.edu 37 1 36784876 36784876 + Silent SNP C C T TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 1 36784876 36784876 C T SNP SH3D21 ENST00000453908 human ensembl 70_37 +1 known silent c.879 p.P293 0.001 NULL pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox,prints_Spectrin_alpha_SH3 - no_errors SH3D21 HGNC SKIDA1 387640 genome.wustl.edu 37 10 21805717 21805717 + Silent SNP G G A TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 10 21805717 21805717 G A SNP SKIDA1 ENST00000449193 human ensembl 70_37 -1 known silent c.1035 p.H345 1.000 NULL pfam_Transform_Ski,superfamily_DNA-bd_dom_put - no_errors SKIDA1 HGNC SLC25A12 8604 genome.wustl.edu 37 2 172691340 172691340 + Silent SNP G G A TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 2 172691340 172691340 G A SNP SLC25A12 ENST00000422440 human ensembl 70_37 -1 known silent c.648 p.F216 1.000 NULL pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A12 HGNC SLC45A1 50651 genome.wustl.edu 37 1 8399605 8399605 + Silent SNP C C T TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 1 8399605 8399605 C T SNP SLC45A1 ENST00000377479 human ensembl 70_37 +1 known silent c.1929 p.I643 0.961 superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A1 HGNC SORCS2 57537 genome.wustl.edu 37 4 7716035 7716035 + Missense_Mutation SNP G G T TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 4 7716035 7716035 G T SNP SORCS2 ENST00000507866 human ensembl 70_37 +1 known missense c.2058 p.K686N 1.000 smart_VPS10 pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,smart_PKD/Chitinase_dom,pfscan_PKD_dom - no_errors SORCS2 HGNC SPTBN5 51332 genome.wustl.edu 37 15 42158019 42158020 + Frame_Shift_Ins INS - - CTCGGAA TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 15 42158019 42158020 - CTCGGAA INS SPTBN5 ENST00000320955 human ensembl 70_37 -1 known frame_shift_ins c.6905_6904 p.G2302fs 0.780:0.782 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN5 HGNC SYBU 55638 genome.wustl.edu 37 8 110587418 110587418 + Missense_Mutation SNP G G T TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 8 110587418 110587418 G T SNP SYBU ENST00000276646 human ensembl 70_37 -1 known missense c.1709 p.A570E 0.000 NULL NULL - no_errors SYBU HGNC TAS2R7 50837 genome.wustl.edu 37 12 10954804 10954804 + Missense_Mutation SNP C C T TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 12 10954804 10954804 C T SNP TAS2R7 ENST00000240687 human ensembl 70_37 -1 known missense c.366 p.M122I 0.990 pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors TAS2R7 HGNC TCEB3CL2 100506888 genome.wustl.edu 37 18 44543098 44543099 + Frame_Shift_Ins INS - - GC TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 18 44543098 44543099 - GC INS TCEB3CL2 ENST00000591973 human ensembl 70_37 -1 known frame_shift_ins c.1274_1273 p.Q425fs 1.000:1.000 pfam_RNA_pol_II_trans_fac_SIII_A pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub - no_errors TCEB3CL2 HGNC TMCO4 255104 genome.wustl.edu 37 1 20073674 20073674 + Nonsense_Mutation SNP C C A TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 1 20073674 20073674 C A SNP TMCO4 ENST00000294543 human ensembl 70_37 -1 known nonsense c.595 p.G199* 0.999 pfam_DUF726 pfam_DUF726,pfam_DUF900_hydrolase - no_errors TMCO4 HGNC TMEM108 66000 genome.wustl.edu 37 3 133099023 133099024 + Frame_Shift_Ins INS - - C TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 3 133099023 133099024 - C INS TMEM108 ENST00000321871 human ensembl 70_37 +1 known frame_shift_ins c.468_469 p.R158fs 0.000:0.000 NULL NULL - no_errors TMEM108 HGNC TMEM233 387890 genome.wustl.edu 37 12 120031686 120031686 + Missense_Mutation SNP G G T TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 12 120031686 120031686 G T SNP TMEM233 ENST00000426426 human ensembl 70_37 +1 known missense c.33 p.K11N 0.998 NULL pfam_Interferon-induced_TM_protein - no_errors TMEM233 HGNC TRAFD1 10906 genome.wustl.edu 37 12 112572848 112572848 + Missense_Mutation SNP A A G TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 12 112572848 112572848 A G SNP TRAFD1 ENST00000257604 human ensembl 70_37 +1 known missense c.215 p.K72R 0.971 NULL superfamily_TRAF-like - no_errors TRAFD1 HGNC TSPYL2 64061 genome.wustl.edu 37 X 53114244 53114244 + Nonsense_Mutation SNP C C G TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 X 53114244 53114244 C G SNP TSPYL2 ENST00000375442 human ensembl 70_37 +1 known nonsense c.1106 p.S369* 0.994 pfam_NAP_family pfam_NAP_family - no_errors TSPYL2 HGNC TTN 7273 genome.wustl.edu 37 2 179392002 179392002 + Missense_Mutation SNP C C T TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 2 179392002 179392002 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.100009 p.D33337N 1.000 pfam_Ig_I-set,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 UGT2B10 7365 genome.wustl.edu 37 4 69692206 69692206 + Missense_Mutation SNP G G A TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 4 69692206 69692206 G A SNP UGT2B10 ENST00000265403 human ensembl 70_37 +1 known missense c.1078 p.D360N 1.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B10 HGNC UNC13B 10497 genome.wustl.edu 37 9 35403968 35403968 + Missense_Mutation SNP G G A TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 9 35403968 35403968 G A SNP UNC13B ENST00000396787 human ensembl 70_37 +1 known missense c.4807 p.E1603K 1.000 NULL pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_Ca-dep,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13B HGNC ZNF41 7592 genome.wustl.edu 37 X 47307757 47307757 + Missense_Mutation SNP T T C TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 X 47307757 47307757 T C SNP ZNF41 ENST00000397050 human ensembl 70_37 -1 known missense c.1442 p.D481G 0.002 pfam_Znf_C2H2,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 ZNF41 HGNC ZNF568 374900 genome.wustl.edu 37 19 37487754 37487754 + Silent SNP G G A TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec 32316bce-291a-4783-976a-c5df20f76546 19 37487754 37487754 G A SNP ZNF568 ENST00000455427 human ensembl 70_37 +1 known silent c.969 p.R323 0.018 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 ZNF568 HGNC