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 SPATA21 374955 genome.wustl.edu 36 1 16621066 16621066 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1f4dee42-8f3d-4307-b6e5-3381d77d201c b2ae42d1-f617-4dec-a1c7-c39c6e6fc8ec 1 16621066 16621066 C T SNP SPATA21 ENST00000375584 human ensembl 54_36p -1 known missense c.700 p.V234I NULL - - no_errors PADI2 11240 genome.wustl.edu 36 1 17269215 17269215 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1f4dee42-8f3d-4307-b6e5-3381d77d201c b2ae42d1-f617-4dec-a1c7-c39c6e6fc8ec 1 17269215 17269215 G T SNP PADI2 NM_007365 human genbank 54_36p -1 reviewed missense c.1719 p.F573L 1 NULL - - no_errors KIF17 57576 genome.wustl.edu 36 1 20889296 20889296 + Silent SNP C C T Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1f4dee42-8f3d-4307-b6e5-3381d77d201c b2ae42d1-f617-4dec-a1c7-c39c6e6fc8ec 1 20889296 20889296 C T SNP KIF17 NM_020816 human genbank 54_36p -1 validated silent c.1353 p.T451 0.94 NULL HMMPfam_Kinesin,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors WNT3A 89780 genome.wustl.edu 36 1 226277096 226277096 + Silent SNP C C T novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1f4dee42-8f3d-4307-b6e5-3381d77d201c b2ae42d1-f617-4dec-a1c7-c39c6e6fc8ec 1 226277096 226277096 C T SNP WNT3A NM_033131 human genbank 54_36p 1 reviewed silent c.177 p.Y59 0.999 HMMPfam_wnt HMMPfam_wnt - no_errors RAB4A 5867 genome.wustl.edu 36 1 227505312 227505312 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1f4dee42-8f3d-4307-b6e5-3381d77d201c b2ae42d1-f617-4dec-a1c7-c39c6e6fc8ec 1 227505312 227505312 G A SNP RAB4A NM_004578 human genbank 54_36p 1 provisional missense c.622 p.A208T 0.94 NULL HMMPfam_Ras;superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors OR14K1 343170 genome.wustl.edu 36 1 245968742 245968742 + Missense_Mutation SNP A A T novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1f4dee42-8f3d-4307-b6e5-3381d77d201c b2ae42d1-f617-4dec-a1c7-c39c6e6fc8ec 1 245968742 245968742 A T SNP OR14K1 ENST00000283225 human ensembl 54_36p 1 known missense c.203 p.D68V 0.08 NULL - - no_errors GCLM 2730 genome.wustl.edu 36 1 94134880 94134880 + Missense_Mutation SNP T T C novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1f4dee42-8f3d-4307-b6e5-3381d77d201c b2ae42d1-f617-4dec-a1c7-c39c6e6fc8ec 1 94134880 94134880 T C SNP GCLM NM_002061 human genbank 54_36p -1 reviewed missense c.422 p.E141G 1 NULL superfamily_NAD(P)-linked oxidoreductase - no_errors OR56A1 120796 genome.wustl.edu 36 11 6005123 6005123 + Missense_Mutation SNP A A C novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1f4dee42-8f3d-4307-b6e5-3381d77d201c b2ae42d1-f617-4dec-a1c7-c39c6e6fc8ec 11 6005123 6005123 A C SNP OR56A1 NM_001001917 human genbank 54_36p -1 provisional missense c.388 p.Y130D 1 NULL - - no_errors MYO1H 283446 genome.wustl.edu 36 12 108361889 108361889 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1f4dee42-8f3d-4307-b6e5-3381d77d201c b2ae42d1-f617-4dec-a1c7-c39c6e6fc8ec 12 108361889 108361889 C T SNP MYO1H NM_001101421 human genbank 54_36p 1 inferred missense c.2347 p.R783W 0.978 NULL - - no_errors VEZT 55591 genome.wustl.edu 36 12 94218234 94218234 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1f4dee42-8f3d-4307-b6e5-3381d77d201c b2ae42d1-f617-4dec-a1c7-c39c6e6fc8ec 12 94218234 94218234 G C SNP VEZT NM_017599 human genbank 54_36p 1 validated missense c.1994 p.C665S 0.998 NULL - - no_errors SLC17A8 246213 genome.wustl.edu 36 12 99308981 99308981 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1f4dee42-8f3d-4307-b6e5-3381d77d201c b2ae42d1-f617-4dec-a1c7-c39c6e6fc8ec 12 99308981 99308981 G A SNP SLC17A8 NM_139319 human genbank 54_36p 1 validated missense c.426 p.M142I 1 HMMPfam_MFS_1 HMMPfam_MFS_1;superfamily_MFS general substrate transporter - no_errors NBEA 26960 genome.wustl.edu 36 13 34528261 34528261 + Missense_Mutation SNP A A T novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1f4dee42-8f3d-4307-b6e5-3381d77d201c b2ae42d1-f617-4dec-a1c7-c39c6e6fc8ec 13 34528261 34528261 A T SNP NBEA NM_015678 human genbank 54_36p 1 reviewed missense c.1087 p.N363Y 1 NULL HMMPfam_Beach;HMMPfam_WD40;superfamily_Concanavalin A-like lectins/glucanases;HMMPfam_DUF1088;superfamily_WD40 repeat-like;superfamily_ARM repeat;superfamily_PH domain-like;superfamily_BEACH domain - no_errors ENSG00000215398 0 genome.wustl.edu 36 14 18187185 18187185 + Nonsense_Mutation SNP C C A novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1f4dee42-8f3d-4307-b6e5-3381d77d201c b2ae42d1-f617-4dec-a1c7-c39c6e6fc8ec 14 18187185 18187185 C A SNP ENSG00000215398 ENST00000400208 human ensembl 54_36p 1 known nonsense c.491 p.S164* 0.01 NULL - - no_start_codon ARID4A 5926 genome.wustl.edu 36 14 57884344 57884344 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1f4dee42-8f3d-4307-b6e5-3381d77d201c b2ae42d1-f617-4dec-a1c7-c39c6e6fc8ec 14 57884344 57884344 C G SNP ARID4A NM_002892 human genbank 54_36p 1 reviewed missense c.1399 p.P467A 1 NULL HMMPfam_ARID;HMMPfam_RBB1NT;superfamily_ARID-like;superfamily_Tudor/PWWP/MBT - no_errors GPHN 10243 genome.wustl.edu 36 14 66705481 66705481 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1f4dee42-8f3d-4307-b6e5-3381d77d201c b2ae42d1-f617-4dec-a1c7-c39c6e6fc8ec 14 66705481 66705481 C T SNP GPHN NM_020806 human genbank 54_36p 1 reviewed missense c.2054 p.P685L 1 NULL HMMPfam_MoCF_biosynth;superfamily_Molybdenum cofactor biosynthesis proteins;HMMPfam_MoeA_N;superfamily_MoeA N-terminal region -like;HMMPfam_MoeA_C;superfamily_MoeA C-terminal domain-like - no_errors LOC100131547 100131547 genome.wustl.edu 36 12 14658721 14658721 + Splice_Site SNP A A G novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 A A A G A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx 1f4dee42-8f3d-4307-b6e5-3381d77d201c b2ae42d1-f617-4dec-a1c7-c39c6e6fc8ec 12 14658721 14658721 A G SNP LOC100131547 XM_001722468 human genbank 54_36p 1 model splice_site c.109-2 e3-2 - - - no_errors OR4G2P 26680 genome.wustl.edu 36 15 100285023 100285023 + Silent SNP A G G novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 A A G G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1f4dee42-8f3d-4307-b6e5-3381d77d201c b2ae42d1-f617-4dec-a1c7-c39c6e6fc8ec 15 100285023 100285023 A G SNP OR4G2P ENST00000328113 human ensembl 54_36p -1 known silent c.345 p.N115 0.033 NULL - - no_errors BUB1B 701 genome.wustl.edu 36 15 38297101 38297101 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1f4dee42-8f3d-4307-b6e5-3381d77d201c b2ae42d1-f617-4dec-a1c7-c39c6e6fc8ec 15 38297101 38297101 C T SNP BUB1B NM_001211 human genbank 54_36p 1 validated missense c.2791 p.R931W 1 NULL superfamily_Protein kinase-like (PK-like);HMMPfam_Mad3_BUB1_I - no_errors UNC13C 440279 genome.wustl.edu 36 15 52343746 52343746 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1f4dee42-8f3d-4307-b6e5-3381d77d201c b2ae42d1-f617-4dec-a1c7-c39c6e6fc8ec 15 52343746 52343746 G C SNP UNC13C NM_001080534 human genbank 54_36p 1 provisional missense c.3537 p.E1179D 1 NULL - - no_errors LOC100132857 100132857 genome.wustl.edu 36 X 16402669 16402669 + RNA SNP G G A novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1f4dee42-8f3d-4307-b6e5-3381d77d201c b2ae42d1-f617-4dec-a1c7-c39c6e6fc8ec X 16402669 16402669 G A SNP LOC100132857 XR_037457 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene TP53 7157 genome.wustl.edu 36 17 7517867 7517867 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1f4dee42-8f3d-4307-b6e5-3381d77d201c b2ae42d1-f617-4dec-a1c7-c39c6e6fc8ec 17 7517867 7517867 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.796 p.G266R 1 HMMPfam_P53 superfamily_p53-like transcription factors;superfamily_p53 tetramerization domain;P53_tetramer;HMMPfam_P53_tetramer;P53;HMMPfam_P53;P53_TAD;HMMPfam_P53_TAD - no_errors STARD6 147323 genome.wustl.edu 36 18 50105217 50105217 + Missense_Mutation SNP A A G novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1f4dee42-8f3d-4307-b6e5-3381d77d201c b2ae42d1-f617-4dec-a1c7-c39c6e6fc8ec 18 50105217 50105217 A G SNP STARD6 NM_139171 human genbank 54_36p -1 provisional missense c.506 p.M169T 1 NULL - - no_errors EPB41L3 23136 genome.wustl.edu 36 18 5435240 5435240 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1f4dee42-8f3d-4307-b6e5-3381d77d201c b2ae42d1-f617-4dec-a1c7-c39c6e6fc8ec 18 5435240 5435240 G A SNP EPB41L3 NM_012307 human genbank 54_36p -1 provisional missense c.385 p.R129C 1 HMMPfam_Band_41 HMMPfam_Band_41;HMMPfam_SAB;HMMPfam_4_1_CTD;superfamily_Flavin-binding protein dodecin;HMMPfam_FA;superfamily_Second domain of FERM;superfamily_PH domain-like;superfamily_Ubiquitin-like - no_errors OR1I1 126370 genome.wustl.edu 36 19 15059451 15059451 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1f4dee42-8f3d-4307-b6e5-3381d77d201c b2ae42d1-f617-4dec-a1c7-c39c6e6fc8ec 19 15059451 15059451 C T SNP OR1I1 NM_001004713 human genbank 54_36p 1 provisional missense c.575 p.T192M 0.95 NULL - - no_errors CHERP 10523 genome.wustl.edu 36 19 16502652 16502652 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1f4dee42-8f3d-4307-b6e5-3381d77d201c b2ae42d1-f617-4dec-a1c7-c39c6e6fc8ec 19 16502652 16502652 C A SNP CHERP NM_006387 human genbank 54_36p -1 validated missense c.714 p.Q238H 1 NULL - - no_errors YSK4 80122 genome.wustl.edu 36 2 135495840 135495840 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1f4dee42-8f3d-4307-b6e5-3381d77d201c b2ae42d1-f617-4dec-a1c7-c39c6e6fc8ec 2 135495840 135495840 C T SNP YSK4 NM_025052 human genbank 54_36p -1 validated missense c.53 p.C18Y 1 NULL HMMPfam_Pkinase;superfamily_Protein kinase-like (PK-like) - no_errors TTN 7273 genome.wustl.edu 36 2 179100092 179100100 + In_Frame_Del DEL TCAGGGTTG TCAGGGTTG - Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 TCAGGGTTG TCAGGGTTG TCAGGGTTG - TCAGGGTTG TCAGGGTTG Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1f4dee42-8f3d-4307-b6e5-3381d77d201c b2ae42d1-f617-4dec-a1c7-c39c6e6fc8ec 2 179100092 179100100 TCAGGGTTG - DEL TTN NM_133378 human genbank 54_36p -1 reviewed in_frame_del c.100164_100156 p.QP*33386in_frame_del 1.000:0.990:1.000:0.998:0.767:0.997:0.996:0.787:1.000 NULL - (deletion:cds_exon[179099985,179100280]) pseudogene:no_stop_codon:bad_bp_length_for_coding_region RHOB 388 genome.wustl.edu 36 2 20511087 20511087 + Missense_Mutation SNP T T G novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1f4dee42-8f3d-4307-b6e5-3381d77d201c b2ae42d1-f617-4dec-a1c7-c39c6e6fc8ec 2 20511087 20511087 T G SNP RHOB NM_004040 human genbank 54_36p 1 validated missense c.380 p.V127G 1 HMMPfam_Ras Ras;HMMPfam_Ras - no_errors CPS1 1373 genome.wustl.edu 36 2 211129805 211129805 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1f4dee42-8f3d-4307-b6e5-3381d77d201c b2ae42d1-f617-4dec-a1c7-c39c6e6fc8ec 2 211129805 211129805 G A SNP CPS1 NM_001875 human genbank 54_36p 1 reviewed missense c.103 p.G35S 1 NULL HMMPfam_GATase;HMMPfam_CPSase_sm_chain;superfamily_Carbamoyl phosphate synthetase small subunit N-terminal domain;HMMPfam_CPSase_L_D2;HMMPfam_CPSase_L_D3;HMMPfam_CPSase_L_chain;HMMPfam_MGS;superfamily_Carbamoyl phosphate synthetase large subunit connection domain;superfamily_Class I glutamine amidotransferase-like;superfamily_Methylglyoxal synthase-like;superfamily_PreATP-grasp domain;superfamily_Glutathione synthetase ATP-binding domain-like - no_errors CAD 790 genome.wustl.edu 36 2 27309790 27309790 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1f4dee42-8f3d-4307-b6e5-3381d77d201c b2ae42d1-f617-4dec-a1c7-c39c6e6fc8ec 2 27309790 27309790 G A SNP CAD NM_004341 human genbank 54_36p 1 reviewed missense c.3098 p.R1033Q 1 HMMPfam_CPSase_L_chain HMMPfam_GATase;HMMPfam_CPSase_sm_chain;superfamily_Carbamoyl phosphate synthetase small subunit N-terminal domain;HMMPfam_CPSase_L_D2;HMMPfam_CPSase_L_D3;HMMPfam_CPSase_L_chain;superfamily_Aspartate/ornithine carbamoyltransferase;HMMPfam_OTCace;HMMPfam_OTCace_N;HMMPfam_Amidohydro_1;superfamily_Composite domain of metallo-dependent hydrolases;HMMPfam_MGS;superfamily_Carbamoyl phosphate synthetase large subunit connection domain;superfamily_Metallo-dependent hydrolases;superfamily_Class I glutamine amidotransferase-like;superfamily_Methylglyoxal synthase-like;superfamily_PreATP-grasp domain;superfamily_Glutathione synthetase ATP-binding domain-like - no_errors ARHGAP25 9938 genome.wustl.edu 36 2 68903017 68903017 + Silent SNP G G T novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1f4dee42-8f3d-4307-b6e5-3381d77d201c b2ae42d1-f617-4dec-a1c7-c39c6e6fc8ec 2 68903017 68903017 G T SNP ARHGAP25 NM_001007231 human genbank 54_36p 1 validated silent c.1239 p.P413 NULL HMMPfam_RhoGAP;HMMPfam_PH;superfamily_GTPase activation domain GAP;superfamily_PH domain-like - no_errors GAP43 2596 genome.wustl.edu 36 3 116922346 116922346 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1f4dee42-8f3d-4307-b6e5-3381d77d201c b2ae42d1-f617-4dec-a1c7-c39c6e6fc8ec 3 116922346 116922346 C T SNP GAP43 NM_002045 human genbank 54_36p 1 reviewed missense c.644 p.T215I 1 NULL - - no_errors ADCY5 111 genome.wustl.edu 36 3 124491420 124491420 + Silent SNP G G A novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1f4dee42-8f3d-4307-b6e5-3381d77d201c b2ae42d1-f617-4dec-a1c7-c39c6e6fc8ec 3 124491420 124491420 G A SNP ADCY5 NM_183357 human genbank 54_36p -1 validated silent c.3399 p.S1133 0.02 HMMPfam_Guanylate_cyc HMMPfam_Guanylate_cyc,HMMPfam_DUF1053,superfamily_Adenylyl and guanylyl cyclase catalytic domain - no_errors SCN10A 6336 genome.wustl.edu 36 3 38730565 38730565 + Missense_Mutation SNP A A G novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1f4dee42-8f3d-4307-b6e5-3381d77d201c b2ae42d1-f617-4dec-a1c7-c39c6e6fc8ec 3 38730565 38730565 A G SNP SCN10A NM_006514 human genbank 54_36p -1 validated missense c.3692 p.I1231T 1 NULL - - no_errors LAMB2 3913 genome.wustl.edu 36 3 49141237 49141237 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1f4dee42-8f3d-4307-b6e5-3381d77d201c b2ae42d1-f617-4dec-a1c7-c39c6e6fc8ec 3 49141237 49141237 C T SNP LAMB2 NM_002292 human genbank 54_36p -1 reviewed missense c.1751 p.R584H 0.96 NULL HMMPfam_Laminin_EGF;HMMPfam_Laminin_N;superfamily_Galactose-binding domain-like;superfamily_Spectrin repeat;superfamily_EGF/Laminin - no_errors CPNE9 151835 genome.wustl.edu 36 3 9743379 9743379 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 1f4dee42-8f3d-4307-b6e5-3381d77d201c b2ae42d1-f617-4dec-a1c7-c39c6e6fc8ec 3 9743379 9743379 G A SNP CPNE9 NM_153635 human genbank 54_36p 1 validated missense c.1375 p.V459I 0.99 HMMPfam_Copine HMMPfam_C2;superfamily_C2 domain (Calcium/lipid-binding domain CaLB);HMMPfam_Copine;superfamily_vWA-like - no_errors ADH6 130 genome.wustl.edu 36 4 100350650 100350653 + Frame_Shift_Del DEL ACTG - ACTG novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 - - - ACTG ACTG ACTG Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx 1f4dee42-8f3d-4307-b6e5-3381d77d201c b2ae42d1-f617-4dec-a1c7-c39c6e6fc8ec 4 100350650 100350653 ACTG - DEL ADH6 NM_001102470 human genbank 54_36p -1 reviewed frame_shift_del c.296 p.C99fs 1 NULL - (deletion:cds_exon[100350595;100350682]) no_errors HHIP 64399 genome.wustl.edu 36 4 145848838 145848838 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1f4dee42-8f3d-4307-b6e5-3381d77d201c b2ae42d1-f617-4dec-a1c7-c39c6e6fc8ec 4 145848838 145848838 C A SNP HHIP NM_022475 human genbank 54_36p 1 reviewed missense c.1226 p.P409Q 0.99 NULL EGF_2;HMMPfam_EGF_2 - no_errors ZNF595 152687 genome.wustl.edu 36 4 49360 49360 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1f4dee42-8f3d-4307-b6e5-3381d77d201c b2ae42d1-f617-4dec-a1c7-c39c6e6fc8ec 4 49360 49360 C A SNP ZNF595 ENST00000339368 human ensembl 54_36p 1 known missense c.41 p.S14Y 0.64 NULL - - no_errors FAF2 23197 genome.wustl.edu 36 5 175853835 175853835 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 1f4dee42-8f3d-4307-b6e5-3381d77d201c b2ae42d1-f617-4dec-a1c7-c39c6e6fc8ec 5 175853835 175853835 G A SNP FAF2 NM_014613 human genbank 54_36p 1 reviewed missense c.614 p.R205K 0.99 NULL - - no_errors MLLT4 4301 genome.wustl.edu 36 6 168094982 168094982 + Missense_Mutation SNP A A G novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1f4dee42-8f3d-4307-b6e5-3381d77d201c b2ae42d1-f617-4dec-a1c7-c39c6e6fc8ec 6 168094982 168094982 A G SNP MLLT4 NM_001040001 human genbank 54_36p 1 validated missense c.4075 p.I1359V 0.01 NULL HMMPfam_RA;HMMPfam_FHA;HMMPfam_PDZ;superfamily_PDZ domain-like;HMMPfam_DIL;superfamily_SMAD/FHA domain;superfamily_Ubiquitin-like - no_errors STARD3NL 83930 genome.wustl.edu 36 7 38223158 38223158 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1f4dee42-8f3d-4307-b6e5-3381d77d201c b2ae42d1-f617-4dec-a1c7-c39c6e6fc8ec 7 38223158 38223158 C T SNP STARD3NL NM_032016 human genbank 54_36p 1 provisional missense c.389 p.T130M 1 NULL - - no_errors ANGPT1 284 genome.wustl.edu 36 8 108417653 108417653 + Missense_Mutation SNP A A G novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1f4dee42-8f3d-4307-b6e5-3381d77d201c b2ae42d1-f617-4dec-a1c7-c39c6e6fc8ec 8 108417653 108417653 A G SNP ANGPT1 NM_001146 human genbank 54_36p -1 reviewed missense c.476 p.L159P 1 NULL HMMPfam_Fibrinogen_C;superfamily_Fibrinogen C-terminal domain-like - no_errors AQP7P1 375719 genome.wustl.edu 36 9 66963040 66963040 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1f4dee42-8f3d-4307-b6e5-3381d77d201c b2ae42d1-f617-4dec-a1c7-c39c6e6fc8ec 9 66963040 66963040 G T SNP AQP7P1 ENST00000334576 human ensembl 54_36p -1 known missense c.432 p.H144Q 0.03 NULL HMMPfam_MIP;superfamily_Aquaporin-like - no_errors MAOA 4128 genome.wustl.edu 36 X 43456951 43456951 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1f4dee42-8f3d-4307-b6e5-3381d77d201c b2ae42d1-f617-4dec-a1c7-c39c6e6fc8ec X 43456951 43456951 C A SNP MAOA NM_000240 human genbank 54_36p 1 reviewed missense c.467 p.T156N 1 HMMPfam_Amino_oxidase HMMPfam_Amino_oxidase;superfamily_FAD/NAD(P)-binding domain;superfamily_FAD-linked reductases C-terminal domain - no_errors LOC401602 401602 genome.wustl.edu 36 X 92365726 92365726 + RNA SNP T T A novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1f4dee42-8f3d-4307-b6e5-3381d77d201c b2ae42d1-f617-4dec-a1c7-c39c6e6fc8ec X 92365726 92365726 T A SNP LOC401602 XR_016272 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene