Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name_WU start_WU stop_WU reference_WU variant_WU type_WU gene_name_WU transcript_name_WU transcript_species_WU transcript_source_WU transcript_version_WU strand_WU transcript_status_WU trv_type_WU c_position_WU amino_acid_change_WU ucsc_cons_WU domain_WU all_domains_WU deletion_substructures_WU transcript_error_WU default_gene_name_WU gene_name_source_WU ensembl_gene_id normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumors_var_reads tumor_vaf EVS_EA EVS_AA EVS_All ALDH1A3 0 genome.wustl.edu 37 15 101447414 101447414 + Missense_Mutation SNP C C T TCGA-E2-A1BC-01A-11D-A14G-09 TCGA-E2-A1BC-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5947a9db-7d13-44ff-86ad-eb5e6c8dcec5 6a4cd52f-2247-4caf-9b37-e90b02fd4d8b 15 101447414 101447414 C T SNP ALDH1A3 ENST00000329841 human ensembl 69_37n +1 known missense c.1322 p.A441V 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH1A3 HGNC ENSG00000184254 251 0 0.00 200 66 24.81 - - - ALDH1A3 0 genome.wustl.edu 37 15 101447414 101447414 + Missense_Mutation SNP C C T TCGA-E2-A1BC-01A-11D-A14G-09 TCGA-E2-A1BC-11A-32D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5947a9db-7d13-44ff-86ad-eb5e6c8dcec5 13373e41-3f2b-4d8a-b67b-b83aaa87c293 15 101447414 101447414 C T SNP ALDH1A3 ENST00000329841 human ensembl 69_37n +1 known missense c.1322 p.A441V 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH1A3 HGNC ENSG00000184254 113 0 0.00 200 66 24.81 - - - ARHGAP11A 0 genome.wustl.edu 37 15 32929655 32929655 + Nonsense_Mutation SNP C C A TCGA-E2-A1BC-01A-11D-A14G-09 TCGA-E2-A1BC-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5947a9db-7d13-44ff-86ad-eb5e6c8dcec5 6a4cd52f-2247-4caf-9b37-e90b02fd4d8b 15 32929655 32929655 C A SNP ARHGAP11A ENST00000361627 human ensembl 69_37n +1 known nonsense c.2681 p.S894* 0.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP11A HGNC ENSG00000198826 246 0 0.00 147 58 28.29 - - - ARHGAP11A 0 genome.wustl.edu 37 15 32929655 32929655 + Nonsense_Mutation SNP C C A TCGA-E2-A1BC-01A-11D-A14G-09 TCGA-E2-A1BC-11A-32D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5947a9db-7d13-44ff-86ad-eb5e6c8dcec5 13373e41-3f2b-4d8a-b67b-b83aaa87c293 15 32929655 32929655 C A SNP ARHGAP11A ENST00000361627 human ensembl 69_37n +1 known nonsense c.2681 p.S894* 0.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP11A HGNC ENSG00000198826 102 0 0.00 147 58 28.29 - - - BCOR 0 genome.wustl.edu 37 X 39922954 39922954 + Missense_Mutation SNP T T C TCGA-E2-A1BC-01A-11D-A14G-09 TCGA-E2-A1BC-10A-01D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5947a9db-7d13-44ff-86ad-eb5e6c8dcec5 6a4cd52f-2247-4caf-9b37-e90b02fd4d8b X 39922954 39922954 T C SNP BCOR ENST00000378444 human ensembl 69_37n -1 known missense c.3754 p.I1252V 0.915 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCOR HGNC ENSG00000183337 446 0 0.00 318 118 27.00 - - - BCOR 0 genome.wustl.edu 37 X 39922954 39922954 + Missense_Mutation SNP T T C TCGA-E2-A1BC-01A-11D-A14G-09 TCGA-E2-A1BC-11A-32D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5947a9db-7d13-44ff-86ad-eb5e6c8dcec5 13373e41-3f2b-4d8a-b67b-b83aaa87c293 X 39922954 39922954 T C SNP BCOR ENST00000378444 human ensembl 69_37n -1 known missense c.3754 p.I1252V 0.915 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCOR HGNC ENSG00000183337 247 0 0.00 318 118 27.00 - - - BSN 0 genome.wustl.edu 37 3 49698237 49698237 + Nonsense_Mutation SNP A A T TCGA-E2-A1BC-01A-11D-A14G-09 TCGA-E2-A1BC-10A-01D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5947a9db-7d13-44ff-86ad-eb5e6c8dcec5 6a4cd52f-2247-4caf-9b37-e90b02fd4d8b 3 49698237 49698237 A T SNP BSN ENST00000296452 human ensembl 69_37n +1 known nonsense c.8959 p.K2987* 1.000 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC ENSG00000164061 20 0 0.00 18 5 21.74 - - - BSN 0 genome.wustl.edu 37 3 49698237 49698237 + Nonsense_Mutation SNP A A T TCGA-E2-A1BC-01A-11D-A14G-09 TCGA-E2-A1BC-11A-32D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5947a9db-7d13-44ff-86ad-eb5e6c8dcec5 13373e41-3f2b-4d8a-b67b-b83aaa87c293 3 49698237 49698237 A T SNP BSN ENST00000296452 human ensembl 69_37n +1 known nonsense c.8959 p.K2987* 1.000 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC ENSG00000164061 13 0 0.00 18 5 21.74 - - - CCSAP 0 genome.wustl.edu 37 1 229461134 229461134 + Missense_Mutation SNP T T G TCGA-E2-A1BC-01A-11D-A14G-09 TCGA-E2-A1BC-10A-01D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5947a9db-7d13-44ff-86ad-eb5e6c8dcec5 6a4cd52f-2247-4caf-9b37-e90b02fd4d8b 1 229461134 229461134 T G SNP CCSAP ENST00000284617 human ensembl 69_37n -1 known missense c.661 p.K221Q 1.000 NULL NULL - no_errors CCSAP HGNC ENSG00000154429 379 0 0.00 285 32 10.09 - - - CCSAP 0 genome.wustl.edu 37 1 229461134 229461134 + Missense_Mutation SNP T T G TCGA-E2-A1BC-01A-11D-A14G-09 TCGA-E2-A1BC-11A-32D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5947a9db-7d13-44ff-86ad-eb5e6c8dcec5 13373e41-3f2b-4d8a-b67b-b83aaa87c293 1 229461134 229461134 T G SNP CCSAP ENST00000284617 human ensembl 69_37n -1 known missense c.661 p.K221Q 1.000 NULL NULL - no_errors CCSAP HGNC ENSG00000154429 224 0 0.00 285 32 10.09 - - - CXorf23 0 genome.wustl.edu 37 X 19971988 19971988 + Missense_Mutation SNP G G T TCGA-E2-A1BC-01A-11D-A14G-09 TCGA-E2-A1BC-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5947a9db-7d13-44ff-86ad-eb5e6c8dcec5 6a4cd52f-2247-4caf-9b37-e90b02fd4d8b X 19971988 19971988 G T SNP CXorf23 ENST00000340625 human ensembl 69_37n -1 known missense c.298 p.H100N 0.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CXorf23 HGNC ENSG00000173681 364 0 0.00 301 110 26.76 - - - CXorf23 0 genome.wustl.edu 37 X 19971988 19971988 + Missense_Mutation SNP G G T TCGA-E2-A1BC-01A-11D-A14G-09 TCGA-E2-A1BC-11A-32D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5947a9db-7d13-44ff-86ad-eb5e6c8dcec5 13373e41-3f2b-4d8a-b67b-b83aaa87c293 X 19971988 19971988 G T SNP CXorf23 ENST00000340625 human ensembl 69_37n -1 known missense c.298 p.H100N 0.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CXorf23 HGNC ENSG00000173681 262 1 0.38 301 110 26.76 - - - DDAH1 0 genome.wustl.edu 37 1 85790543 85790543 + Missense_Mutation SNP G G T TCGA-E2-A1BC-01A-11D-A14G-09 TCGA-E2-A1BC-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5947a9db-7d13-44ff-86ad-eb5e6c8dcec5 6a4cd52f-2247-4caf-9b37-e90b02fd4d8b 1 85790543 85790543 G T SNP DDAH1 ENST00000284031 human ensembl 69_37n -1 known missense c.621 p.H207Q 0.999 pfam_Amidino_trans pfam_Amidino_trans - no_errors DDAH1 HGNC ENSG00000153904 258 0 0.00 191 93 32.75 - - - DDAH1 0 genome.wustl.edu 37 1 85790543 85790543 + Missense_Mutation SNP G G T TCGA-E2-A1BC-01A-11D-A14G-09 TCGA-E2-A1BC-11A-32D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5947a9db-7d13-44ff-86ad-eb5e6c8dcec5 13373e41-3f2b-4d8a-b67b-b83aaa87c293 1 85790543 85790543 G T SNP DDAH1 ENST00000284031 human ensembl 69_37n -1 known missense c.621 p.H207Q 0.999 pfam_Amidino_trans pfam_Amidino_trans - no_errors DDAH1 HGNC ENSG00000153904 112 0 0.00 191 93 32.75 - - - EXOC3 0 genome.wustl.edu 37 5 447698 447698 + Silent SNP C C T TCGA-E2-A1BC-01A-11D-A14G-09 TCGA-E2-A1BC-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5947a9db-7d13-44ff-86ad-eb5e6c8dcec5 6a4cd52f-2247-4caf-9b37-e90b02fd4d8b 5 447698 447698 C T SNP EXOC3 ENST00000315013 human ensembl 69_37n +1 known silent c.195 p.L65 0.617 NULL pfam_Sec6 - no_errors EXOC3 HGNC ENSG00000180104 47 0 0.00 21 13 38.24 - - - EXOC3 0 genome.wustl.edu 37 5 447698 447698 + Silent SNP C C T TCGA-E2-A1BC-01A-11D-A14G-09 TCGA-E2-A1BC-11A-32D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5947a9db-7d13-44ff-86ad-eb5e6c8dcec5 13373e41-3f2b-4d8a-b67b-b83aaa87c293 5 447698 447698 C T SNP EXOC3 ENST00000315013 human ensembl 69_37n +1 known silent c.195 p.L65 0.617 NULL pfam_Sec6 - no_errors EXOC3 HGNC ENSG00000180104 21 0 0.00 21 13 38.24 - - - FAM13A 0 genome.wustl.edu 37 4 89744132 89744132 + Silent SNP C C A TCGA-E2-A1BC-01A-11D-A14G-09 TCGA-E2-A1BC-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5947a9db-7d13-44ff-86ad-eb5e6c8dcec5 6a4cd52f-2247-4caf-9b37-e90b02fd4d8b 4 89744132 89744132 C A SNP FAM13A ENST00000508369 human ensembl 69_37n -1 known silent c.24 p.L8 1.000 NULL NULL - no_errors FAM13A HGNC ENSG00000138640 161 1 0.62 115 36 23.84 - - - FAM13A 0 genome.wustl.edu 37 4 89744132 89744132 + Silent SNP C C A TCGA-E2-A1BC-01A-11D-A14G-09 TCGA-E2-A1BC-11A-32D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5947a9db-7d13-44ff-86ad-eb5e6c8dcec5 13373e41-3f2b-4d8a-b67b-b83aaa87c293 4 89744132 89744132 C A SNP FAM13A ENST00000508369 human ensembl 69_37n -1 known silent c.24 p.L8 1.000 NULL NULL - no_errors FAM13A HGNC ENSG00000138640 82 0 0.00 115 36 23.84 - - - FAM72D 0 genome.wustl.edu 37 1 143910091 143910091 + Missense_Mutation SNP C C T TCGA-E2-A1BC-01A-11D-A14G-09 TCGA-E2-A1BC-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5947a9db-7d13-44ff-86ad-eb5e6c8dcec5 6a4cd52f-2247-4caf-9b37-e90b02fd4d8b 1 143910091 143910091 C T SNP FAM72D ENST00000400889 human ensembl 69_37n -1 known missense c.217 p.A73T 1.000 NULL NULL - no_errors FAM72D HGNC ENSG00000215784 76 0 0.00 50 9 15.25 - - - FAM72D 0 genome.wustl.edu 37 1 143910091 143910091 + Missense_Mutation SNP C C T TCGA-E2-A1BC-01A-11D-A14G-09 TCGA-E2-A1BC-11A-32D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5947a9db-7d13-44ff-86ad-eb5e6c8dcec5 13373e41-3f2b-4d8a-b67b-b83aaa87c293 1 143910091 143910091 C T SNP FAM72D ENST00000400889 human ensembl 69_37n -1 known missense c.217 p.A73T 1.000 NULL NULL - no_errors FAM72D HGNC ENSG00000215784 19 0 0.00 50 9 15.25 - - - GABRG1 0 genome.wustl.edu 37 4 46053637 46053637 + Missense_Mutation SNP G G C TCGA-E2-A1BC-01A-11D-A14G-09 TCGA-E2-A1BC-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5947a9db-7d13-44ff-86ad-eb5e6c8dcec5 6a4cd52f-2247-4caf-9b37-e90b02fd4d8b 4 46053637 46053637 G C SNP GABRG1 ENST00000295452 human ensembl 69_37n -1 known missense c.935 p.T312S 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,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 ENSG00000163285 247 0 0.00 170 41 19.43 - - - GABRG1 0 genome.wustl.edu 37 4 46053637 46053637 + Missense_Mutation SNP G G C TCGA-E2-A1BC-01A-11D-A14G-09 TCGA-E2-A1BC-11A-32D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5947a9db-7d13-44ff-86ad-eb5e6c8dcec5 13373e41-3f2b-4d8a-b67b-b83aaa87c293 4 46053637 46053637 G C SNP GABRG1 ENST00000295452 human ensembl 69_37n -1 known missense c.935 p.T312S 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,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 ENSG00000163285 200 0 0.00 170 41 19.43 - - - GPR133 0 genome.wustl.edu 37 12 131616342 131616342 + Missense_Mutation SNP G G A TCGA-E2-A1BC-01A-11D-A14G-09 TCGA-E2-A1BC-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5947a9db-7d13-44ff-86ad-eb5e6c8dcec5 6a4cd52f-2247-4caf-9b37-e90b02fd4d8b 12 131616342 131616342 G A SNP GPR133 ENST00000261654 human ensembl 69_37n +1 known missense c.2248 p.G750R 0.997 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR133 HGNC ENSG00000111452 174 0 0.00 142 38 20.99 - - - GPR133 0 genome.wustl.edu 37 12 131616342 131616342 + Missense_Mutation SNP G G A TCGA-E2-A1BC-01A-11D-A14G-09 TCGA-E2-A1BC-11A-32D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5947a9db-7d13-44ff-86ad-eb5e6c8dcec5 13373e41-3f2b-4d8a-b67b-b83aaa87c293 12 131616342 131616342 G A SNP GPR133 ENST00000261654 human ensembl 69_37n +1 known missense c.2248 p.G750R 0.997 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR133 HGNC ENSG00000111452 72 0 0.00 142 38 20.99 - - - HLA-DRB6 0 genome.wustl.edu 37 6 32522570 32522570 + RNA SNP G G A TCGA-E2-A1BC-01A-11D-A14G-09 TCGA-E2-A1BC-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5947a9db-7d13-44ff-86ad-eb5e6c8dcec5 6a4cd52f-2247-4caf-9b37-e90b02fd4d8b 6 32522570 32522570 G A SNP HLA-DRB6 ENST00000411500 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors HLA-DRB6 HGNC ENSG00000229391 17 0 0.00 15 5 25.00 - - - HSD17B7P2 0 genome.wustl.edu 37 10 38652504 38652504 + RNA SNP T T C TCGA-E2-A1BC-01A-11D-A14G-09 TCGA-E2-A1BC-11A-32D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5947a9db-7d13-44ff-86ad-eb5e6c8dcec5 13373e41-3f2b-4d8a-b67b-b83aaa87c293 10 38652504 38652504 T C SNP HSD17B7P2 ENST00000494540 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors HSD17B7P2 HGNC ENSG00000099251 160 0 0.00 201 75 27.17 - - - IGKV2D-30 0 genome.wustl.edu 37 2 89976393 89976393 + Frame_Shift_Del DEL C C - TCGA-E2-A1BC-01A-11D-A14G-09 TCGA-E2-A1BC-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5947a9db-7d13-44ff-86ad-eb5e6c8dcec5 6a4cd52f-2247-4caf-9b37-e90b02fd4d8b 2 89976393 89976393 C - DEL IGKV2D-30 ENST00000474213 human ensembl 69_37n +1 known frame_shift_del c.264 p.S88fs 1.000 pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon IGKV2D-30 HGNC ENSG00000239571 239 0 0.00 164 52 23.42 - - - IGKV2D-30 0 genome.wustl.edu 37 2 89976393 89976393 + Frame_Shift_Del DEL C C - TCGA-E2-A1BC-01A-11D-A14G-09 TCGA-E2-A1BC-11A-32D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5947a9db-7d13-44ff-86ad-eb5e6c8dcec5 13373e41-3f2b-4d8a-b67b-b83aaa87c293 2 89976393 89976393 C - DEL IGKV2D-30 ENST00000474213 human ensembl 69_37n +1 known frame_shift_del c.264 p.S88fs 1.000 pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon IGKV2D-30 HGNC ENSG00000239571 56 0 0.00 164 52 23.42 - - - KCNJ6 0 genome.wustl.edu 37 21 39087022 39087022 + Silent SNP T T C TCGA-E2-A1BC-01A-11D-A14G-09 TCGA-E2-A1BC-10A-01D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5947a9db-7d13-44ff-86ad-eb5e6c8dcec5 6a4cd52f-2247-4caf-9b37-e90b02fd4d8b 21 39087022 39087022 T C SNP KCNJ6 ENST00000288309 human ensembl 69_37n -1 known silent c.438 p.S146 0.659 pfam_K_chnl_inward-rec_Kir_Cr2,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2 pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2,prints_K_chnl_inward-rec_Kir3.2 - no_errors KCNJ6 HGNC ENSG00000157542 165 0 0.00 87 32 26.89 - - - KCNJ6 0 genome.wustl.edu 37 21 39087022 39087022 + Silent SNP T T C TCGA-E2-A1BC-01A-11D-A14G-09 TCGA-E2-A1BC-11A-32D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5947a9db-7d13-44ff-86ad-eb5e6c8dcec5 13373e41-3f2b-4d8a-b67b-b83aaa87c293 21 39087022 39087022 T C SNP KCNJ6 ENST00000288309 human ensembl 69_37n -1 known silent c.438 p.S146 0.659 pfam_K_chnl_inward-rec_Kir_Cr2,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2 pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2,prints_K_chnl_inward-rec_Kir3.2 - no_errors KCNJ6 HGNC ENSG00000157542 75 0 0.00 87 32 26.89 - - - KIF18B 0 genome.wustl.edu 37 17 43009058 43009058 + Silent SNP G G A TCGA-E2-A1BC-01A-11D-A14G-09 TCGA-E2-A1BC-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5947a9db-7d13-44ff-86ad-eb5e6c8dcec5 6a4cd52f-2247-4caf-9b37-e90b02fd4d8b 17 43009058 43009058 G A SNP KIF18B ENST00000339151 human ensembl 69_37n -1 known silent c.1465 p.L489 0.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF18B HGNC ENSG00000186185 196 0 0.00 148 61 29.19 - - - KIF18B 0 genome.wustl.edu 37 17 43009058 43009058 + Silent SNP G G A TCGA-E2-A1BC-01A-11D-A14G-09 TCGA-E2-A1BC-11A-32D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5947a9db-7d13-44ff-86ad-eb5e6c8dcec5 13373e41-3f2b-4d8a-b67b-b83aaa87c293 17 43009058 43009058 G A SNP KIF18B ENST00000339151 human ensembl 69_37n -1 known silent c.1465 p.L489 0.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF18B HGNC ENSG00000186185 102 0 0.00 148 61 29.19 - - - MAP2K4 0 genome.wustl.edu 37 17 11984671 11984672 + Splice_Site DEL AG AG - TCGA-E2-A1BC-01A-11D-A14G-09 TCGA-E2-A1BC-10A-01D-A12Q-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5947a9db-7d13-44ff-86ad-eb5e6c8dcec5 6a4cd52f-2247-4caf-9b37-e90b02fd4d8b 17 11984671 11984672 AG - DEL MAP2K4 ENST00000415385 human ensembl 69_37n +1 known splice_site_del c.252-2_252-1 e4-1 1.000:1.000 - - - no_errors MAP2K4 HGNC ENSG00000065559 132 0 0.00 65 28 30.11 - - - MAP2K4 0 genome.wustl.edu 37 17 11984671 11984672 + Splice_Site DEL AG AG - TCGA-E2-A1BC-01A-11D-A14G-09 TCGA-E2-A1BC-11A-32D-A12Q-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5947a9db-7d13-44ff-86ad-eb5e6c8dcec5 13373e41-3f2b-4d8a-b67b-b83aaa87c293 17 11984671 11984672 AG - DEL MAP2K4 ENST00000415385 human ensembl 69_37n +1 known splice_site_del c.252-2_252-1 e4-1 1.000:1.000 - - - no_errors MAP2K4 HGNC ENSG00000065559 121 0 0.00 65 28 30.11 - - - MED23 0 genome.wustl.edu 37 6 131937129 131937129 + Frame_Shift_Del DEL G G - TCGA-E2-A1BC-01A-11D-A14G-09 TCGA-E2-A1BC-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5947a9db-7d13-44ff-86ad-eb5e6c8dcec5 6a4cd52f-2247-4caf-9b37-e90b02fd4d8b 6 131937129 131937129 G - DEL MED23 ENST00000368058 human ensembl 69_37n -1 known frame_shift_del c.794 p.P265fs 1.000 pfam_Mediator_Med23 pfam_Mediator_Med23 - no_errors MED23 HGNC ENSG00000112282 236 0 0.00 102 65 38.69 - - - MED23 0 genome.wustl.edu 37 6 131937129 131937129 + Frame_Shift_Del DEL G G - TCGA-E2-A1BC-01A-11D-A14G-09 TCGA-E2-A1BC-11A-32D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5947a9db-7d13-44ff-86ad-eb5e6c8dcec5 13373e41-3f2b-4d8a-b67b-b83aaa87c293 6 131937129 131937129 G - DEL MED23 ENST00000368058 human ensembl 69_37n -1 known frame_shift_del c.794 p.P265fs 1.000 pfam_Mediator_Med23 pfam_Mediator_Med23 - no_errors MED23 HGNC ENSG00000112282 110 0 0.00 102 65 38.69 - - - MUS81 0 genome.wustl.edu 37 11 65632201 65632201 + Missense_Mutation SNP G G T TCGA-E2-A1BC-01A-11D-A14G-09 TCGA-E2-A1BC-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5947a9db-7d13-44ff-86ad-eb5e6c8dcec5 6a4cd52f-2247-4caf-9b37-e90b02fd4d8b 11 65632201 65632201 G T SNP MUS81 ENST00000308110 human ensembl 69_37n +1 known missense c.1187 p.G396V 1.000 superfamily_Restrct_endonuc-II-like pfam_ERCC4_domain,superfamily_Restrct_endonuc-II-like,superfamily_DNA-dir_DNA_pol_X_beta-like_N,smart_ERCC4_domain - no_errors MUS81 HGNC ENSG00000172732 121 0 0.00 68 30 30.61 - - - NF1 0 genome.wustl.edu 37 17 29588873 29588876 + Splice_Site DEL TAGG TAGG - TCGA-E2-A1BC-01A-11D-A14G-09 TCGA-E2-A1BC-10A-01D-A12Q-09 TAGG TAGG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5947a9db-7d13-44ff-86ad-eb5e6c8dcec5 6a4cd52f-2247-4caf-9b37-e90b02fd4d8b 17 29588873 29588876 TAGG - DEL NF1 ENST00000358273 human ensembl 69_37n +1 known splice_site_del c.4724+4_4724+1 e36-1 0.877:1.000:1.000:1.000 - - - no_errors NF1 HGNC ENSG00000196712 146 0 0.00 82 21 20.39 - - - NF1 0 genome.wustl.edu 37 17 29588873 29588876 + Splice_Site DEL TAGG TAGG - TCGA-E2-A1BC-01A-11D-A14G-09 TCGA-E2-A1BC-11A-32D-A12Q-09 TAGG TAGG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5947a9db-7d13-44ff-86ad-eb5e6c8dcec5 13373e41-3f2b-4d8a-b67b-b83aaa87c293 17 29588873 29588876 TAGG - DEL NF1 ENST00000358273 human ensembl 69_37n +1 known splice_site_del c.4724+4_4724+1 e36-1 0.877:1.000:1.000:1.000 - - - no_errors NF1 HGNC ENSG00000196712 95 0 0.00 82 21 20.39 - - - PCDH10 0 genome.wustl.edu 37 4 134084410 134084410 + Nonsense_Mutation SNP C C T TCGA-E2-A1BC-01A-11D-A14G-09 TCGA-E2-A1BC-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5947a9db-7d13-44ff-86ad-eb5e6c8dcec5 6a4cd52f-2247-4caf-9b37-e90b02fd4d8b 4 134084410 134084410 C T SNP PCDH10 ENST00000264360 human ensembl 69_37n +1 known nonsense c.3076 p.R1026* 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 43 0 0.00 31 10 23.81 - - - PCDH10 0 genome.wustl.edu 37 4 134084410 134084410 + Nonsense_Mutation SNP C C T TCGA-E2-A1BC-01A-11D-A14G-09 TCGA-E2-A1BC-11A-32D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5947a9db-7d13-44ff-86ad-eb5e6c8dcec5 13373e41-3f2b-4d8a-b67b-b83aaa87c293 4 134084410 134084410 C T SNP PCDH10 ENST00000264360 human ensembl 69_37n +1 known nonsense c.3076 p.R1026* 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 82 0 0.00 31 10 23.81 - - - PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G TCGA-E2-A1BC-01A-11D-A14G-09 TCGA-E2-A1BC-10A-01D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5947a9db-7d13-44ff-86ad-eb5e6c8dcec5 6a4cd52f-2247-4caf-9b37-e90b02fd4d8b 3 178952085 178952085 A G SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.3140 p.H1047R 1.000 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 208 0 0.00 163 50 23.47 - - - PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G TCGA-E2-A1BC-01A-11D-A14G-09 TCGA-E2-A1BC-11A-32D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5947a9db-7d13-44ff-86ad-eb5e6c8dcec5 13373e41-3f2b-4d8a-b67b-b83aaa87c293 3 178952085 178952085 A G SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.3140 p.H1047R 1.000 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 122 0 0.00 163 50 23.47 - - - PRB1 0 genome.wustl.edu 37 12 11506225 11506225 + Missense_Mutation SNP G G A TCGA-E2-A1BC-01A-11D-A14G-09 TCGA-E2-A1BC-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5947a9db-7d13-44ff-86ad-eb5e6c8dcec5 6a4cd52f-2247-4caf-9b37-e90b02fd4d8b 12 11506225 11506225 G A SNP PRB1 ENST00000500254 human ensembl 69_37n -1 known missense c.413 p.S138F 0.009 NULL NULL - no_errors PRB1 HGNC ENSG00000251655 798 0 0.00 478 183 27.69 - - - PRB1 0 genome.wustl.edu 37 12 11506225 11506225 + Missense_Mutation SNP G G A TCGA-E2-A1BC-01A-11D-A14G-09 TCGA-E2-A1BC-11A-32D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5947a9db-7d13-44ff-86ad-eb5e6c8dcec5 13373e41-3f2b-4d8a-b67b-b83aaa87c293 12 11506225 11506225 G A SNP PRB1 ENST00000500254 human ensembl 69_37n -1 known missense c.413 p.S138F 0.009 NULL NULL - no_errors PRB1 HGNC ENSG00000251655 434 0 0.00 478 183 27.69 - - - RBFOX1 0 genome.wustl.edu 37 16 7102099 7102099 + Missense_Mutation SNP G G T TCGA-E2-A1BC-01A-11D-A14G-09 TCGA-E2-A1BC-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5947a9db-7d13-44ff-86ad-eb5e6c8dcec5 6a4cd52f-2247-4caf-9b37-e90b02fd4d8b 16 7102099 7102099 G T SNP RBFOX1 ENST00000547372 human ensembl 69_37n +1 known missense c.156 p.R52S 1.000 pirsf_RNA-bd_Fox-1 pfam_Fox-1_C_dom,pfam_RRM_dom,smart_RRM_dom,pirsf_RNA-bd_Fox-1,pfscan_RRM_dom - no_errors RBFOX1 HGNC ENSG00000078328 261 0 0.00 264 68 20.48 - - - RBFOX1 0 genome.wustl.edu 37 16 7102099 7102099 + Missense_Mutation SNP G G T TCGA-E2-A1BC-01A-11D-A14G-09 TCGA-E2-A1BC-11A-32D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5947a9db-7d13-44ff-86ad-eb5e6c8dcec5 13373e41-3f2b-4d8a-b67b-b83aaa87c293 16 7102099 7102099 G T SNP RBFOX1 ENST00000547372 human ensembl 69_37n +1 known missense c.156 p.R52S 1.000 pirsf_RNA-bd_Fox-1 pfam_Fox-1_C_dom,pfam_RRM_dom,smart_RRM_dom,pirsf_RNA-bd_Fox-1,pfscan_RRM_dom - no_errors RBFOX1 HGNC ENSG00000078328 209 0 0.00 264 68 20.48 - - - RLIM 0 genome.wustl.edu 37 X 73812045 73812045 + Missense_Mutation SNP G G A TCGA-E2-A1BC-01A-11D-A14G-09 TCGA-E2-A1BC-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5947a9db-7d13-44ff-86ad-eb5e6c8dcec5 6a4cd52f-2247-4caf-9b37-e90b02fd4d8b X 73812045 73812045 G A SNP RLIM ENST00000332687 human ensembl 69_37n -1 known missense c.1105 p.R369C 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RLIM HGNC ENSG00000131263 266 2 0.75 252 35 12.20 - - - RLIM 0 genome.wustl.edu 37 X 73812045 73812045 + Missense_Mutation SNP G G A TCGA-E2-A1BC-01A-11D-A14G-09 TCGA-E2-A1BC-11A-32D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5947a9db-7d13-44ff-86ad-eb5e6c8dcec5 13373e41-3f2b-4d8a-b67b-b83aaa87c293 X 73812045 73812045 G A SNP RLIM ENST00000332687 human ensembl 69_37n -1 known missense c.1105 p.R369C 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RLIM HGNC ENSG00000131263 232 0 0.00 252 35 12.20 - - - RNF123 0 genome.wustl.edu 37 3 49742580 49742580 + Missense_Mutation SNP G G C TCGA-E2-A1BC-01A-11D-A14G-09 TCGA-E2-A1BC-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5947a9db-7d13-44ff-86ad-eb5e6c8dcec5 6a4cd52f-2247-4caf-9b37-e90b02fd4d8b 3 49742580 49742580 G C SNP RNF123 ENST00000327697 human ensembl 69_37n +1 known missense c.2123 p.R708P 1.000 NULL pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,smart_Znf_RING,pfscan_B30.2/SPRY,pfscan_Znf_RING - no_errors RNF123 HGNC ENSG00000164068 49 0 0.00 39 12 23.53 - - - RNF123 0 genome.wustl.edu 37 3 49742580 49742580 + Missense_Mutation SNP G G C TCGA-E2-A1BC-01A-11D-A14G-09 TCGA-E2-A1BC-11A-32D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5947a9db-7d13-44ff-86ad-eb5e6c8dcec5 13373e41-3f2b-4d8a-b67b-b83aaa87c293 3 49742580 49742580 G C SNP RNF123 ENST00000327697 human ensembl 69_37n +1 known missense c.2123 p.R708P 1.000 NULL pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,smart_Znf_RING,pfscan_B30.2/SPRY,pfscan_Znf_RING - no_errors RNF123 HGNC ENSG00000164068 24 0 0.00 39 12 23.53 - - - SCARA5 0 genome.wustl.edu 37 8 27845103 27845103 + Silent SNP G G A TCGA-E2-A1BC-01A-11D-A14G-09 TCGA-E2-A1BC-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5947a9db-7d13-44ff-86ad-eb5e6c8dcec5 6a4cd52f-2247-4caf-9b37-e90b02fd4d8b 8 27845103 27845103 G A SNP SCARA5 ENST00000354914 human ensembl 69_37n -1 known silent c.30 p.T10 0.997 NULL pfam_Srcr_rcpt,pfam_Collagen,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_Srcr_rcpt,pfscan_Srcr_rcpt - no_errors SCARA5 HGNC ENSG00000168079 129 0 0.00 93 22 19.13 - - - SCARA5 0 genome.wustl.edu 37 8 27845103 27845103 + Silent SNP G G A TCGA-E2-A1BC-01A-11D-A14G-09 TCGA-E2-A1BC-11A-32D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5947a9db-7d13-44ff-86ad-eb5e6c8dcec5 13373e41-3f2b-4d8a-b67b-b83aaa87c293 8 27845103 27845103 G A SNP SCARA5 ENST00000354914 human ensembl 69_37n -1 known silent c.30 p.T10 0.997 NULL pfam_Srcr_rcpt,pfam_Collagen,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_Srcr_rcpt,pfscan_Srcr_rcpt - no_errors SCARA5 HGNC ENSG00000168079 82 0 0.00 93 22 19.13 - - - SH3TC1 0 genome.wustl.edu 37 4 8228801 8228801 + Silent SNP C C G TCGA-E2-A1BC-01A-11D-A14G-09 TCGA-E2-A1BC-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5947a9db-7d13-44ff-86ad-eb5e6c8dcec5 6a4cd52f-2247-4caf-9b37-e90b02fd4d8b 4 8228801 8228801 C G SNP SH3TC1 ENST00000245105 human ensembl 69_37n +1 known silent c.1380 p.P460 0.000 NULL superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain - no_errors SH3TC1 HGNC ENSG00000125089 37 0 0.00 27 18 40.00 - - - SH3TC1 0 genome.wustl.edu 37 4 8228801 8228801 + Silent SNP C C G TCGA-E2-A1BC-01A-11D-A14G-09 TCGA-E2-A1BC-11A-32D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5947a9db-7d13-44ff-86ad-eb5e6c8dcec5 13373e41-3f2b-4d8a-b67b-b83aaa87c293 4 8228801 8228801 C G SNP SH3TC1 ENST00000245105 human ensembl 69_37n +1 known silent c.1380 p.P460 0.000 NULL superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain - no_errors SH3TC1 HGNC ENSG00000125089 20 0 0.00 27 18 40.00 - - - SMAD9 0 genome.wustl.edu 37 13 37446983 37446983 + Missense_Mutation SNP C C T TCGA-E2-A1BC-01A-11D-A14G-09 TCGA-E2-A1BC-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5947a9db-7d13-44ff-86ad-eb5e6c8dcec5 6a4cd52f-2247-4caf-9b37-e90b02fd4d8b 13 37446983 37446983 C T SNP SMAD9 ENST00000379826 human ensembl 69_37n -1 known missense c.482 p.R161H 1.000 NULL pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD9 HGNC ENSG00000120693 362 1 0.28 254 87 25.36 - - - SMAD9 0 genome.wustl.edu 37 13 37446983 37446983 + Missense_Mutation SNP C C T TCGA-E2-A1BC-01A-11D-A14G-09 TCGA-E2-A1BC-11A-32D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5947a9db-7d13-44ff-86ad-eb5e6c8dcec5 13373e41-3f2b-4d8a-b67b-b83aaa87c293 13 37446983 37446983 C T SNP SMAD9 ENST00000379826 human ensembl 69_37n -1 known missense c.482 p.R161H 1.000 NULL pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD9 HGNC ENSG00000120693 310 0 0.00 254 87 25.36 - - - SPTBN2 0 genome.wustl.edu 37 11 66475053 66475053 + Silent SNP G G C TCGA-E2-A1BC-01A-11D-A14G-09 TCGA-E2-A1BC-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5947a9db-7d13-44ff-86ad-eb5e6c8dcec5 6a4cd52f-2247-4caf-9b37-e90b02fd4d8b 11 66475053 66475053 G C SNP SPTBN2 ENST00000309996 human ensembl 69_37n -1 known silent c.1587 p.L529 0.873 pirsf_Spectrin_bsu pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,prints_PH_dom-spectrin-type - no_errors SPTBN2 HGNC ENSG00000173898 16 0 0.00 11 4 26.67 - - - SPTBN2 0 genome.wustl.edu 37 11 66475053 66475053 + Silent SNP G G C TCGA-E2-A1BC-01A-11D-A14G-09 TCGA-E2-A1BC-11A-32D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5947a9db-7d13-44ff-86ad-eb5e6c8dcec5 13373e41-3f2b-4d8a-b67b-b83aaa87c293 11 66475053 66475053 G C SNP SPTBN2 ENST00000309996 human ensembl 69_37n -1 known silent c.1587 p.L529 0.873 pirsf_Spectrin_bsu pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,prints_PH_dom-spectrin-type - no_errors SPTBN2 HGNC ENSG00000173898 17 0 0.00 11 4 26.67 - - - TM7SF3 0 genome.wustl.edu 37 12 27133509 27133509 + Nonsense_Mutation SNP G G C TCGA-E2-A1BC-01A-11D-A14G-09 TCGA-E2-A1BC-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5947a9db-7d13-44ff-86ad-eb5e6c8dcec5 6a4cd52f-2247-4caf-9b37-e90b02fd4d8b 12 27133509 27133509 G C SNP TM7SF3 ENST00000545303 human ensembl 69_37n -1 putative nonsense c.368 p.S123* 0.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region TM7SF3 HGNC ENSG00000064115 210 0 0.00 131 43 24.71 - - - TM7SF3 0 genome.wustl.edu 37 12 27133509 27133509 + Nonsense_Mutation SNP G G C TCGA-E2-A1BC-01A-11D-A14G-09 TCGA-E2-A1BC-11A-32D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5947a9db-7d13-44ff-86ad-eb5e6c8dcec5 13373e41-3f2b-4d8a-b67b-b83aaa87c293 12 27133509 27133509 G C SNP TM7SF3 ENST00000545303 human ensembl 69_37n -1 putative nonsense c.368 p.S123* 0.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region TM7SF3 HGNC ENSG00000064115 189 1 0.53 131 43 24.71 - - - TTC7B 0 genome.wustl.edu 37 14 91252558 91252558 + Missense_Mutation SNP C C T TCGA-E2-A1BC-01A-11D-A14G-09 TCGA-E2-A1BC-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5947a9db-7d13-44ff-86ad-eb5e6c8dcec5 6a4cd52f-2247-4caf-9b37-e90b02fd4d8b 14 91252558 91252558 C T SNP TTC7B ENST00000357056 human ensembl 69_37n -1 known missense c.236 p.R79H 1.000 NULL pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC7B HGNC ENSG00000165914 27 0 0.00 26 12 31.58 - - - TTC7B 0 genome.wustl.edu 37 14 91252558 91252558 + Missense_Mutation SNP C C T TCGA-E2-A1BC-01A-11D-A14G-09 TCGA-E2-A1BC-11A-32D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5947a9db-7d13-44ff-86ad-eb5e6c8dcec5 13373e41-3f2b-4d8a-b67b-b83aaa87c293 14 91252558 91252558 C T SNP TTC7B ENST00000357056 human ensembl 69_37n -1 known missense c.236 p.R79H 1.000 NULL pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC7B HGNC ENSG00000165914 8 0 0.00 26 12 31.58 - - - USH1G 0 genome.wustl.edu 37 17 72916760 72916760 + Missense_Mutation SNP G G C TCGA-E2-A1BC-01A-11D-A14G-09 TCGA-E2-A1BC-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5947a9db-7d13-44ff-86ad-eb5e6c8dcec5 6a4cd52f-2247-4caf-9b37-e90b02fd4d8b 17 72916760 72916760 G C SNP USH1G ENST00000319642 human ensembl 69_37n -1 known missense c.171 p.D57E 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors USH1G HGNC ENSG00000182040 38 0 0.00 55 15 21.43 - - - USH1G 0 genome.wustl.edu 37 17 72916760 72916760 + Missense_Mutation SNP G G C TCGA-E2-A1BC-01A-11D-A14G-09 TCGA-E2-A1BC-11A-32D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5947a9db-7d13-44ff-86ad-eb5e6c8dcec5 13373e41-3f2b-4d8a-b67b-b83aaa87c293 17 72916760 72916760 G C SNP USH1G ENST00000319642 human ensembl 69_37n -1 known missense c.171 p.D57E 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors USH1G HGNC ENSG00000182040 43 0 0.00 55 15 21.43 - - - ZNF208 0 genome.wustl.edu 37 19 22156855 22156855 + Silent SNP G G A TCGA-E2-A1BC-01A-11D-A14G-09 TCGA-E2-A1BC-11A-32D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5947a9db-7d13-44ff-86ad-eb5e6c8dcec5 13373e41-3f2b-4d8a-b67b-b83aaa87c293 19 22156855 22156855 G A SNP ZNF208 ENST00000397126 human ensembl 69_37n -1 known silent c.981 p.T327 0.000 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 ZNF208 HGNC ENSG00000160321 8 0 0.00 5 7 58.33 - - - ZNF37BP 0 genome.wustl.edu 37 10 43015456 43015456 + RNA SNP G G T TCGA-E2-A1BC-01A-11D-A14G-09 TCGA-E2-A1BC-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5947a9db-7d13-44ff-86ad-eb5e6c8dcec5 6a4cd52f-2247-4caf-9b37-e90b02fd4d8b 10 43015456 43015456 G T SNP ZNF37BP ENST00000452075 human ensembl 69_37n -1 known rna NULL NULL 0.994 - - - no_errors ZNF37BP HGNC ENSG00000234420 77 0 0.00 52 21 28.77 - - - ZNF37BP 0 genome.wustl.edu 37 10 43015456 43015456 + RNA SNP G G T TCGA-E2-A1BC-01A-11D-A14G-09 TCGA-E2-A1BC-11A-32D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5947a9db-7d13-44ff-86ad-eb5e6c8dcec5 13373e41-3f2b-4d8a-b67b-b83aaa87c293 10 43015456 43015456 G T SNP ZNF37BP ENST00000452075 human ensembl 69_37n -1 known rna NULL NULL 0.994 - - - no_errors ZNF37BP HGNC ENSG00000234420 89 0 0.00 52 21 28.77 - - -