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 ABO 0 genome.wustl.edu 37 9 136131416 136131416 + RNA SNP G G A TCGA-BH-A0BF-01A-21D-A12Q-09 TCGA-BH-A0BF-11A-31D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39221056-704b-4a23-9b8d-3178dd9e790d df0f49fe-e68c-42d3-8dbf-fc08672ac4fb 9 136131416 136131416 G A SNP ABO ENST00000453660 human ensembl 69_37n -1 known rna NULL NULL 0.004 - - - no_errors ABO HGNC ENSG00000175164 15 0 0.00 8 9 52.94 - - - ARHGAP15 0 genome.wustl.edu 37 2 144525681 144525681 + Silent SNP C C T TCGA-BH-A0BF-01A-21D-A12Q-09 TCGA-BH-A0BF-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39221056-704b-4a23-9b8d-3178dd9e790d df0f49fe-e68c-42d3-8dbf-fc08672ac4fb 2 144525681 144525681 C T SNP ARHGAP15 ENST00000295095 human ensembl 69_37n +1 known silent c.1368 p.N456 1.000 superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP15 HGNC ENSG00000075884 170 0 0.00 78 19 19.59 - - - BPHL 0 genome.wustl.edu 37 6 3119540 3119540 + Nonsense_Mutation SNP C C A TCGA-BH-A0BF-01A-21D-A12Q-09 TCGA-BH-A0BF-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39221056-704b-4a23-9b8d-3178dd9e790d df0f49fe-e68c-42d3-8dbf-fc08672ac4fb 6 3119540 3119540 C A SNP BPHL ENST00000424847 human ensembl 69_37n +1 known nonsense c.129 p.Y43* 0.001 NULL NULL - no_errors BPHL HGNC ENSG00000137274 43 0 0.00 36 5 11.90 - - - CHRNA3 0 genome.wustl.edu 37 15 78894311 78894311 + Missense_Mutation SNP C C T TCGA-BH-A0BF-01A-21D-A12Q-09 TCGA-BH-A0BF-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39221056-704b-4a23-9b8d-3178dd9e790d df0f49fe-e68c-42d3-8dbf-fc08672ac4fb 15 78894311 78894311 C T SNP CHRNA3 ENST00000326828 human ensembl 69_37n -1 known missense c.673 p.E225K 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA3 HGNC ENSG00000080644 476 0 0.00 258 54 17.25 - - - ERCC8 0 genome.wustl.edu 37 5 60199504 60199504 + Missense_Mutation SNP T T C TCGA-BH-A0BF-01A-21D-A12Q-09 TCGA-BH-A0BF-11A-31D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39221056-704b-4a23-9b8d-3178dd9e790d df0f49fe-e68c-42d3-8dbf-fc08672ac4fb 5 60199504 60199504 T C SNP ERCC8 ENST00000265038 human ensembl 69_37n -1 known missense c.521 p.K174R 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors ERCC8 HGNC ENSG00000049167 150 0 0.00 100 19 15.97 - - - FSCN1 0 genome.wustl.edu 37 7 5644991 5644991 + Silent SNP C C T TCGA-BH-A0BF-01A-21D-A12Q-09 TCGA-BH-A0BF-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39221056-704b-4a23-9b8d-3178dd9e790d df0f49fe-e68c-42d3-8dbf-fc08672ac4fb 7 5644991 5644991 C T SNP FSCN1 ENST00000382361 human ensembl 69_37n +1 known silent c.1368 p.C456 0.999 pfam_Fascin-domain,superfamily_Actin_cross-linking pfam_Fascin-domain,superfamily_Actin_cross-linking - no_errors FSCN1 HGNC ENSG00000075618 55 0 0.00 25 6 19.35 - - - FUNDC1 0 genome.wustl.edu 37 X 44386496 44386498 + In_Frame_Del DEL TTG TTG - TCGA-BH-A0BF-01A-21D-A12Q-09 TCGA-BH-A0BF-11A-31D-A12Q-09 TTG TTG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39221056-704b-4a23-9b8d-3178dd9e790d df0f49fe-e68c-42d3-8dbf-fc08672ac4fb X 44386496 44386498 TTG - DEL FUNDC1 ENST00000378045 human ensembl 69_37n -1 known in_frame_del c.377_375 p.N126in_frame_del 0.997:1.000:1.000 pfam_FUN14 pfam_FUN14 - no_errors FUNDC1 HGNC ENSG00000069509 642 0 0.00 192 62 24.12 - - - GOLGA6L5 0 genome.wustl.edu 37 15 85053219 85053219 + RNA SNP C C T TCGA-BH-A0BF-01A-21D-A12Q-09 TCGA-BH-A0BF-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39221056-704b-4a23-9b8d-3178dd9e790d df0f49fe-e68c-42d3-8dbf-fc08672ac4fb 15 85053219 85053219 C T SNP GOLGA6L5 ENST00000414190 human ensembl 69_37n -1 known rna NULL NULL 0.073 - - - no_errors GOLGA6L5 HGNC ENSG00000230373 10 0 0.00 12 10 45.45 - - - HGF 0 genome.wustl.edu 37 7 81392029 81392029 + Missense_Mutation SNP G G C TCGA-BH-A0BF-01A-21D-A12Q-09 TCGA-BH-A0BF-11A-31D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39221056-704b-4a23-9b8d-3178dd9e790d df0f49fe-e68c-42d3-8dbf-fc08672ac4fb 7 81392029 81392029 G C SNP HGF ENST00000222390 human ensembl 69_37n -1 known missense c.248 p.T83S 1.000 pfam_PAN-1_domain,smart_Pan_app,pfscan_Pan_app pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors HGF HGNC ENSG00000019991 550 0 0.00 272 51 15.79 - - - HSP90AA1 0 genome.wustl.edu 37 14 102551267 102551269 + In_Frame_Del DEL TTC TTC - TCGA-BH-A0BF-01A-21D-A12Q-09 TCGA-BH-A0BF-11A-31D-A12Q-09 TTC TTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39221056-704b-4a23-9b8d-3178dd9e790d df0f49fe-e68c-42d3-8dbf-fc08672ac4fb 14 102551267 102551269 TTC - DEL HSP90AA1 ENST00000334701 human ensembl 69_37n -1 known in_frame_del c.1098_1096 p.E366in_frame_del 0.047:0.981:0.982 pirsf_Hsp90,pfam_Hsp90 pirsf_Hsp90,pfam_Hsp90,pfam_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,prints_Hsp90_N - no_errors HSP90AA1 HGNC ENSG00000080824 463 0 0.00 190 27 12.39 - - - KLHL30 0 genome.wustl.edu 37 2 239057685 239057685 + Missense_Mutation SNP G G T TCGA-BH-A0BF-01A-21D-A12Q-09 TCGA-BH-A0BF-11A-31D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39221056-704b-4a23-9b8d-3178dd9e790d df0f49fe-e68c-42d3-8dbf-fc08672ac4fb 2 239057685 239057685 G T SNP KLHL30 ENST00000409223 human ensembl 69_37n +1 known missense c.1377 p.K459N 1.000 pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL30 HGNC ENSG00000168427 62 0 0.00 29 9 23.68 - - - KRT27 0 genome.wustl.edu 37 17 38935976 38935976 + Silent SNP G G A TCGA-BH-A0BF-01A-21D-A12Q-09 TCGA-BH-A0BF-11A-31D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39221056-704b-4a23-9b8d-3178dd9e790d df0f49fe-e68c-42d3-8dbf-fc08672ac4fb 17 38935976 38935976 G A SNP KRT27 ENST00000301656 human ensembl 69_37n -1 known silent c.822 p.D274 0.018 pfam_F,superfamily_Prefoldin pfam_F,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT27 HGNC ENSG00000171446 88 0 0.00 43 14 24.56 - - - L1TD1 0 genome.wustl.edu 37 1 62673212 62673212 + Silent SNP C C T TCGA-BH-A0BF-01A-21D-A12Q-09 TCGA-BH-A0BF-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39221056-704b-4a23-9b8d-3178dd9e790d df0f49fe-e68c-42d3-8dbf-fc08672ac4fb 1 62673212 62673212 C T SNP L1TD1 ENST00000498273 human ensembl 69_37n +1 known silent c.912 p.S304 0.024 pfam_Transposase_22 pfam_Transposase_22,superfamily_STAT_TF_coiled-coil - no_errors L1TD1 HGNC ENSG00000240563 189 1 0.53 97 24 19.83 - - - MAML2 0 genome.wustl.edu 37 11 95825407 95825407 + Silent SNP C C T TCGA-BH-A0BF-01A-21D-A12Q-09 TCGA-BH-A0BF-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39221056-704b-4a23-9b8d-3178dd9e790d df0f49fe-e68c-42d3-8dbf-fc08672ac4fb 11 95825407 95825407 C T SNP MAML2 ENST00000440572 human ensembl 69_37n -1 known silent c.1788 p.Q596 0.003 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML2 HGNC ENSG00000184384 196 1 0.51 189 45 19.15 - - - MTERF 0 genome.wustl.edu 37 7 91503433 91503433 + Missense_Mutation SNP C C G TCGA-BH-A0BF-01A-21D-A12Q-09 TCGA-BH-A0BF-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39221056-704b-4a23-9b8d-3178dd9e790d df0f49fe-e68c-42d3-8dbf-fc08672ac4fb 7 91503433 91503433 C G SNP MTERF ENST00000351870 human ensembl 69_37n -1 known missense c.675 p.L225F 0.947 pfam_Mit_transcrip_term-rel pfam_Mit_transcrip_term-rel,smart_Mit_transcrip_term-rel - no_errors MTERF HGNC ENSG00000127989 139 0 0.00 65 18 21.69 - - - MYBL2 0 genome.wustl.edu 37 20 42311462 42311462 + Missense_Mutation SNP G G A TCGA-BH-A0BF-01A-21D-A12Q-09 TCGA-BH-A0BF-11A-31D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39221056-704b-4a23-9b8d-3178dd9e790d df0f49fe-e68c-42d3-8dbf-fc08672ac4fb 20 42311462 42311462 G A SNP MYBL2 ENST00000217026 human ensembl 69_37n +1 known missense c.215 p.R72K 1.000 pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom pfam_C-myb_C,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MYBL2 HGNC ENSG00000101057 159 0 0.00 86 42 32.81 - - - MYH7B 0 genome.wustl.edu 37 20 33581196 33581196 + Silent SNP C C T TCGA-BH-A0BF-01A-21D-A12Q-09 TCGA-BH-A0BF-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39221056-704b-4a23-9b8d-3178dd9e790d df0f49fe-e68c-42d3-8dbf-fc08672ac4fb 20 33581196 33581196 C T SNP MYH7B ENST00000262873 human ensembl 69_37n +1 novel silent c.2493 p.A831 0.989 pfscan_IQ_motif_EF-hand-BS pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Myosin_S1_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7B HGNC ENSG00000078814 51 0 0.00 40 14 25.45 - - - NUP153 0 genome.wustl.edu 37 6 17669532 17669532 + Missense_Mutation SNP G G C TCGA-BH-A0BF-01A-21D-A12Q-09 TCGA-BH-A0BF-11A-31D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39221056-704b-4a23-9b8d-3178dd9e790d df0f49fe-e68c-42d3-8dbf-fc08672ac4fb 6 17669532 17669532 G C SNP NUP153 ENST00000537253 human ensembl 69_37n -1 known missense c.1006 p.L336V 0.038 pfam_Nucleoporin_Nup153 pfam_Nucleoporin_Nup153,pfam_Znf_RanBP2,pfam_Retro-transposon_transp_CS,smart_Znf_RanBP2,pfscan_Znf_RanBP2 - no_errors NUP153 HGNC ENSG00000124789 148 0 0.00 87 23 20.91 - - - PAN2 0 genome.wustl.edu 37 12 56721335 56721335 + Silent SNP C C A TCGA-BH-A0BF-01A-21D-A12Q-09 TCGA-BH-A0BF-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39221056-704b-4a23-9b8d-3178dd9e790d df0f49fe-e68c-42d3-8dbf-fc08672ac4fb 12 56721335 56721335 C A SNP PAN2 ENST00000425394 human ensembl 69_37n -1 known silent c.732 p.V244 0.998 superfamily_WD40_repeat_dom pfam_Exonuclease_RNaseT/DNA_pol3,pfam_Peptidase_C19,superfamily_RNaseH-like_dom,superfamily_WD40_repeat_dom,smart_Exonuclease,pfscan_Peptidase_C19 - no_errors PAN2 HGNC ENSG00000135473 97 0 0.00 65 18 21.69 - - - PHKA1 0 genome.wustl.edu 37 X 71813106 71813106 + Missense_Mutation SNP T T A TCGA-BH-A0BF-01A-21D-A12Q-09 TCGA-BH-A0BF-11A-31D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39221056-704b-4a23-9b8d-3178dd9e790d df0f49fe-e68c-42d3-8dbf-fc08672ac4fb X 71813106 71813106 T A SNP PHKA1 ENST00000373539 human ensembl 69_37n -1 known missense c.3142 p.T1048S 0.000 NULL pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKA1 HGNC ENSG00000067177 282 0 0.00 102 40 28.17 - - - PHLDB1 0 genome.wustl.edu 37 11 118486917 118486917 + Missense_Mutation SNP C C A TCGA-BH-A0BF-01A-21D-A12Q-09 TCGA-BH-A0BF-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39221056-704b-4a23-9b8d-3178dd9e790d df0f49fe-e68c-42d3-8dbf-fc08672ac4fb 11 118486917 118486917 C A SNP PHLDB1 ENST00000361417 human ensembl 69_37n +1 known missense c.346 p.L116I 1.000 superfamily_SMAD_FHA_domain pfam_Pleckstrin_homology,superfamily_SMAD_FHA_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PHLDB1 HGNC ENSG00000019144 24 0 0.00 18 8 29.63 - - - PIK3CA 0 genome.wustl.edu 37 3 178921553 178921553 + Missense_Mutation SNP T T A TCGA-BH-A0BF-01A-21D-A12Q-09 TCGA-BH-A0BF-11A-31D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39221056-704b-4a23-9b8d-3178dd9e790d df0f49fe-e68c-42d3-8dbf-fc08672ac4fb 3 178921553 178921553 T A SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.1035 p.N345K 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_C2_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 108 0 0.00 64 17 20.73 - - - PINK1 0 genome.wustl.edu 37 1 20964471 20964471 + Missense_Mutation SNP T T C TCGA-BH-A0BF-01A-21D-A12Q-09 TCGA-BH-A0BF-11A-31D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39221056-704b-4a23-9b8d-3178dd9e790d df0f49fe-e68c-42d3-8dbf-fc08672ac4fb 1 20964471 20964471 T C SNP PINK1 ENST00000321556 human ensembl 69_37n +1 known missense c.524 p.M175T 0.297 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors PINK1 HGNC ENSG00000158828 86 0 0.00 71 15 17.44 - - - POLDIP2 0 genome.wustl.edu 37 17 26680331 26680331 + RNA SNP A A C TCGA-BH-A0BF-01A-21D-A12Q-09 TCGA-BH-A0BF-11A-31D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39221056-704b-4a23-9b8d-3178dd9e790d df0f49fe-e68c-42d3-8dbf-fc08672ac4fb 17 26680331 26680331 A C SNP POLDIP2 ENST00000003607 human ensembl 69_37n -1 known rna NULL NULL 0.998 - - - no_errors POLDIP2 HGNC ENSG00000004142 122 0 0.00 84 23 21.50 - - - PPP2R5D 0 genome.wustl.edu 37 6 42976144 42976144 + Nonsense_Mutation SNP C C T TCGA-BH-A0BF-01A-21D-A12Q-09 TCGA-BH-A0BF-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39221056-704b-4a23-9b8d-3178dd9e790d df0f49fe-e68c-42d3-8dbf-fc08672ac4fb 6 42976144 42976144 C T SNP PPP2R5D ENST00000470467 human ensembl 69_37n +1 novel nonsense c.715 p.Q239* 1.000 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region PPP2R5D HGNC ENSG00000112640 116 0 0.00 75 25 25.00 - - - RPGR 0 genome.wustl.edu 37 X 38145532 38145534 + In_Frame_Del DEL TCC TCC - TCGA-BH-A0BF-01A-21D-A12Q-09 TCGA-BH-A0BF-11A-31D-A12Q-09 TCC TCC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39221056-704b-4a23-9b8d-3178dd9e790d df0f49fe-e68c-42d3-8dbf-fc08672ac4fb X 38145532 38145534 TCC - DEL RPGR ENST00000378505 human ensembl 69_37n -1 known in_frame_del c.2720_2718 p.E907in_frame_del 0.994:0.977:0.978 NULL pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors RPGR HGNC ENSG00000156313 12 0 0.00 5 4 44.44 - - - RTN2 0 genome.wustl.edu 37 19 45997923 45997923 + Silent SNP C C T TCGA-BH-A0BF-01A-21D-A12Q-09 TCGA-BH-A0BF-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39221056-704b-4a23-9b8d-3178dd9e790d df0f49fe-e68c-42d3-8dbf-fc08672ac4fb 19 45997923 45997923 C T SNP RTN2 ENST00000245923 human ensembl 69_37n -1 known silent c.420 p.L140 0.983 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN2 HGNC ENSG00000125744 98 0 0.00 61 15 19.74 - - - SRF 0 genome.wustl.edu 37 6 43141698 43141698 + Missense_Mutation SNP G G C TCGA-BH-A0BF-01A-21D-A12Q-09 TCGA-BH-A0BF-11A-31D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39221056-704b-4a23-9b8d-3178dd9e790d df0f49fe-e68c-42d3-8dbf-fc08672ac4fb 6 43141698 43141698 G C SNP SRF ENST00000265354 human ensembl 69_37n +1 known missense c.627 p.E209D 1.000 superfamily_TF_MADSbox pfam_TF_MADSbox,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox - no_errors SRF HGNC ENSG00000112658 154 0 0.00 102 23 18.40 - - - TMEM247 0 genome.wustl.edu 37 2 46707888 46707888 + Frame_Shift_Del DEL G G - TCGA-BH-A0BF-01A-21D-A12Q-09 TCGA-BH-A0BF-11A-31D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39221056-704b-4a23-9b8d-3178dd9e790d df0f49fe-e68c-42d3-8dbf-fc08672ac4fb 2 46707888 46707888 G - DEL TMEM247 ENST00000434431 human ensembl 69_37n +1 known frame_shift_del c.462 p.A155fs 0.083 NULL NULL - no_stop_codon:bad_bp_length_for_coding_region TMEM247 HGNC ENSG00000187600 19 0 0.00 9 3 25.00 - - - TRPM5 0 genome.wustl.edu 37 11 2434145 2434145 + Missense_Mutation SNP C C T TCGA-BH-A0BF-01A-21D-A12Q-09 TCGA-BH-A0BF-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39221056-704b-4a23-9b8d-3178dd9e790d df0f49fe-e68c-42d3-8dbf-fc08672ac4fb 11 2434145 2434145 C T SNP TRPM5 ENST00000452833 human ensembl 69_37n -1 known missense c.2200 p.V734M 0.998 NULL superfamily_Ankyrin_rpt-contain_dom - no_errors TRPM5 HGNC ENSG00000070985 15 0 0.00 16 5 22.73 - - - TTN 0 genome.wustl.edu 37 2 179647587 179647587 + Missense_Mutation SNP T T C TCGA-BH-A0BF-01A-21D-A12Q-09 TCGA-BH-A0BF-11A-31D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39221056-704b-4a23-9b8d-3178dd9e790d df0f49fe-e68c-42d3-8dbf-fc08672ac4fb 2 179647587 179647587 T C SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.3046 p.S1016G 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 87 0 0.00 49 15 23.44 - - - ZNF208 0 genome.wustl.edu 37 19 22170078 22170078 + Missense_Mutation SNP G G C TCGA-BH-A0BF-01A-21D-A12Q-09 TCGA-BH-A0BF-11A-31D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39221056-704b-4a23-9b8d-3178dd9e790d df0f49fe-e68c-42d3-8dbf-fc08672ac4fb 19 22170078 22170078 G C SNP ZNF208 ENST00000397126 human ensembl 69_37n -1 known missense c.166 p.L56V 0.007 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box 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 637 0 0.00 184 43 18.94 - - -