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 AKNAD1 254268 genome.wustl.edu 36 1 109193134 109193136 + In_Frame_Del DEL AAG AAG - novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 AAG AAG AAG - AAG AAG Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f 5a9ad498-1cf3-4777-8e89-3d27d0c2b64c 1 109193134 109193136 AAG - DEL C1orf62 NM_152763 human genbank 54_36p -1 validated in_frame_del c.1105_1103 p.S368in_frame_del 0.633:0.633:0.697 NULL - (deletion:cds_exon[109193057;109193205]) no_errors KIAA1324 57535 genome.wustl.edu 36 1 109547330 109547330 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f 5a9ad498-1cf3-4777-8e89-3d27d0c2b64c 1 109547330 109547330 T C SNP KIAA1324 ENST00000369939 human ensembl 54_36p 1 known missense c.2773 p.C925R 0.97 NULL - - no_stop_codon PPIAL4G 644591 genome.wustl.edu 36 1 142558964 142558964 + Silent SNP C C T novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f 5a9ad498-1cf3-4777-8e89-3d27d0c2b64c 1 142558964 142558964 C T SNP PPIAL4G ENST00000369380 human ensembl 54_36p -1 known silent c.408 p.V136 1 NULL - - no_errors ITGA10 8515 genome.wustl.edu 36 1 144247129 144247129 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f 5a9ad498-1cf3-4777-8e89-3d27d0c2b64c 1 144247129 144247129 G C SNP ITGA10 NM_003637 human genbank 54_36p 1 reviewed missense c.1960 p.V654L 0 HMMPfam_Integrin_alpha2 HMMPfam_Integrin_alpha2;superfamily_vWA-like;superfamily_Integrin domains;superfamily_Integrin alpha N-terminal domain;HMMPfam_VWA;HMMPfam_FG-GAP - no_errors LOC388707 388707 genome.wustl.edu 36 1 158503240 158503240 + RNA SNP G G C novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f 5a9ad498-1cf3-4777-8e89-3d27d0c2b64c 1 158503240 158503240 G C SNP LOC388707 XR_017679 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene ASPM 259266 genome.wustl.edu 36 1 195338672 195338672 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f 5a9ad498-1cf3-4777-8e89-3d27d0c2b64c 1 195338672 195338672 C T SNP ASPM NM_018136 human genbank 54_36p -1 validated missense c.6332 p.R2111K 0.47 HMMPfam_IQ IQ;HMMPfam_IQ;CH;HMMPfam_CH;Calponin-homology domain CH-domain;superfamily_Calponin-homology domain CH-domain;ARM repeat;superfamily_ARM repeat;P-loop containing nucleoside triphosphate hydrolases;superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors CRB1 23418 genome.wustl.edu 36 1 195564406 195564406 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f 5a9ad498-1cf3-4777-8e89-3d27d0c2b64c 1 195564406 195564406 G C SNP CRB1 NM_201253 human genbank 54_36p 1 reviewed missense c.302 p.G101A 0.85 HMMPfam_EGF HMMPfam_EGF;superfamily_Concanavalin A-like lectins/glucanases;HMMPfam_Laminin_G_2;superfamily_EGF/Laminin - no_errors HHAT 55733 genome.wustl.edu 36 1 208658139 208658139 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f 5a9ad498-1cf3-4777-8e89-3d27d0c2b64c 1 208658139 208658139 G A SNP HHAT NM_018194 human genbank 54_36p 1 validated missense c.703 p.D235N 0 NULL - - no_errors KCNH1 3756 genome.wustl.edu 36 1 208923393 208923393 + Silent SNP G G A novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f 5a9ad498-1cf3-4777-8e89-3d27d0c2b64c 1 208923393 208923393 G A SNP KCNH1 NM_172362 human genbank 54_36p -1 reviewed silent c.2823 p.N941 0.16 NULL - - no_errors KIAA1383 54627 genome.wustl.edu 36 1 231008926 231008926 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f 5a9ad498-1cf3-4777-8e89-3d27d0c2b64c 1 231008926 231008926 C G SNP KIAA1383 NM_019090 human genbank 54_36p 1 validated missense c.1534 p.P512A 0.01 NULL - - no_errors RYR2 6262 genome.wustl.edu 36 1 236060514 236060514 + Missense_Mutation SNP A A T novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f 5a9ad498-1cf3-4777-8e89-3d27d0c2b64c 1 236060514 236060514 A T SNP RYR2 NM_001035 human genbank 54_36p 1 reviewed missense c.14717 p.E4906V 1 NULL HMMPfam_RYDR_ITPR;HMMPfam_efhand;HMMPfam_RyR;HMMPfam_MIR;HMMPfam_SPRY;HMMPfam_Ion_trans;HMMPfam_RR_TM4-6;HMMPfam_RIH_assoc;HMMPfam_Ins145_P3_rec;superfamily_EF-hand;superfamily_MIR domain (Pfam 02815) - no_errors CYP4A11 1579 genome.wustl.edu 36 1 47171248 47171248 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f 5a9ad498-1cf3-4777-8e89-3d27d0c2b64c 1 47171248 47171248 G T SNP CYP4A11 NM_000778 human genbank 54_36p -1 reviewed missense c.1281 p.N427K 1 HMMPfam_p450 HMMPfam_p450;superfamily_Cytochrome P450 - no_errors TRIM8 81603 genome.wustl.edu 36 10 104407016 104407016 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f 5a9ad498-1cf3-4777-8e89-3d27d0c2b64c 10 104407016 104407016 G C SNP TRIM8 NM_030912 human genbank 54_36p 1 validated missense c.1571 p.W524S 1 NULL - - no_errors EEF1G 1937 genome.wustl.edu 36 11 62097881 62097881 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f 5a9ad498-1cf3-4777-8e89-3d27d0c2b64c 11 62097881 62097881 C A SNP EEF1G NM_001404 human genbank 54_36p -1 reviewed missense c.10 p.G4W 1 NULL - - no_errors PGM2L1 283209 genome.wustl.edu 36 11 73734324 73734324 + Silent SNP G G A novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f 5a9ad498-1cf3-4777-8e89-3d27d0c2b64c 11 73734324 73734324 G A SNP PGM2L1 NM_173582 human genbank 54_36p -1 validated silent c.1056 p.F352 1 NULL superfamily_Phosphoglucomutase C-terminal domain;HMMPfam_PGM_PMM_I;HMMPfam_PGM_PMM_II;superfamily_Phosphoglucomutase first 3 domains - no_errors MYO7A 4647 genome.wustl.edu 36 11 76578105 76578105 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f 5a9ad498-1cf3-4777-8e89-3d27d0c2b64c 11 76578105 76578105 G T SNP MYO7A NM_000260 human genbank 54_36p 1 reviewed missense c.3572 p.G1191V 1 NULL - - no_errors C12orf42 374470 genome.wustl.edu 36 12 102220257 102220257 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f 5a9ad498-1cf3-4777-8e89-3d27d0c2b64c 12 102220257 102220257 G A SNP C12orf42 NM_001099336 human genbank 54_36p -1 validated missense c.842 p.A281V 0.94 NULL - - no_errors TAS2R9 50835 genome.wustl.edu 36 12 10853316 10853316 + Missense_Mutation SNP G T T novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f 5a9ad498-1cf3-4777-8e89-3d27d0c2b64c 12 10853316 10853316 G T SNP TAS2R9 NM_023917 human genbank 54_36p -1 reviewed missense c.626 p.T209N 0.18 HMMPfam_TAS2R HMMPfam_TAS2R;superfamily_Family A G protein-coupled receptor-like - no_errors KCNJ8 3764 genome.wustl.edu 36 12 21810804 21810804 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f 5a9ad498-1cf3-4777-8e89-3d27d0c2b64c 12 21810804 21810804 A G SNP KCNJ8 NM_004982 human genbank 54_36p -1 reviewed missense c.395 p.L132P 1 NULL - - no_errors LRCH1 23143 genome.wustl.edu 36 13 46158085 46158085 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f 5a9ad498-1cf3-4777-8e89-3d27d0c2b64c 13 46158085 46158085 A G SNP LRCH1 NM_015116 human genbank 54_36p 1 provisional missense c.730 p.K244E 1 NULL - - no_errors RB1 5925 genome.wustl.edu 36 13 47853541 47853556 + Frame_Shift_Del DEL ATGTGAACATCGAATC ATGTGAACATCGAATC - novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 ATGTGAACATCGAATC ATGTGAACATCGAATC ATGTGAACATCGAATC - ATGTGAACATCGAATC ATGTGAACATCGAATC Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f 5a9ad498-1cf3-4777-8e89-3d27d0c2b64c 13 47853541 47853556 ATGTGAACATCGAATC - DEL RB1 NM_000321 human genbank 54_36p 1 reviewed frame_shift_del c.1656_1671 p.C553fs 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.999:1.000:1.000:1.000 HMMPfam_RB_A RB_B;HMMPfam_RB_B;RB_A;HMMPfam_RB_A;Rb_C;HMMPfam_Rb_C (deletion:cds_exon[47853384;47853580]) no_errors DNAH3 55567 genome.wustl.edu 36 16 20882203 20882203 + Nonsense_Mutation SNP C C A novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f 5a9ad498-1cf3-4777-8e89-3d27d0c2b64c 16 20882203 20882203 C A SNP DNAH3 NM_017539 human genbank 54_36p -1 provisional nonsense c.10504 p.E3502* 1 NULL - - no_errors SCNN1B 6338 genome.wustl.edu 36 16 23296016 23296016 + Missense_Mutation SNP G A A novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 G G A A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f 5a9ad498-1cf3-4777-8e89-3d27d0c2b64c 16 23296016 23296016 G A SNP SCNN1B NM_000336 human genbank 54_36p 1 validated missense c.1300 p.V434M 0 HMMPfam_ASC HMMPfam_ASC - no_errors ADCY9 115 genome.wustl.edu 36 16 3955909 3955909 + Missense_Mutation SNP T T A novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 T T T A T T Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f 5a9ad498-1cf3-4777-8e89-3d27d0c2b64c 16 3955909 3955909 T A SNP ADCY9 NM_001116 human genbank 54_36p -1 reviewed missense c.3930 p.R1310S 0.07 NULL HMMPfam_Guanylate_cyc;superfamily_p53-like transcription factors;superfamily_Adenylyl and guanylyl cyclase catalytic domain - no_errors RPGRIP1L 23322 genome.wustl.edu 36 16 52249859 52249859 + Missense_Mutation SNP C G G novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f 5a9ad498-1cf3-4777-8e89-3d27d0c2b64c 16 52249859 52249859 C G SNP RPGRIP1L NM_015272 human genbank 54_36p -1 reviewed missense c.1369 p.D457H 1 NULL - - no_errors IRX3 79191 genome.wustl.edu 36 16 52876606 52876606 + Missense_Mutation SNP C G G novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f 5a9ad498-1cf3-4777-8e89-3d27d0c2b64c 16 52876606 52876606 C G SNP IRX3 NM_024336 human genbank 54_36p -1 provisional missense c.688 p.E230Q 1 NULL HMMPfam_Homeobox;superfamily_Homeodomain-like - no_errors SPECC1 92521 genome.wustl.edu 36 17 20048346 20048346 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f 5a9ad498-1cf3-4777-8e89-3d27d0c2b64c 17 20048346 20048346 C T SNP CYTSB NM_001033553 human genbank 54_36p 1 validated missense c.392 p.S131L 0.02 NULL HMMPfam_CH;superfamily_Spectrin repeat;superfamily_Calponin-homology domain CH-domain - no_errors NF1 4763 genome.wustl.edu 36 17 26510201 26510219 + Frame_Shift_Del DEL GATTATATTGGATACACTG GATTATATTGGATACACTG - novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 GATTATATTGGATACACTG GATTATATTGGATACACTG GATTATATTGGATACACTG - GATTATATTGGATACACTG GATTATATTGGATACACTG Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f 5a9ad498-1cf3-4777-8e89-3d27d0c2b64c 17 26510201 26510219 GATTATATTGGATACACTG - DEL NF1 NM_001042492 human genbank 54_36p 1 reviewed frame_shift_del c.252_270 p.I85fs 1.000:1.000:1.000:1.000:1.000:1.000:0.998:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 NULL - (deletion:cds_exon[26510154;26510237]) no_errors ACACA 31 genome.wustl.edu 36 17 32528962 32528962 + Silent SNP T T C novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f 5a9ad498-1cf3-4777-8e89-3d27d0c2b64c 17 32528962 32528962 T C SNP ACACA NM_198834 human genbank 54_36p -1 reviewed silent c.6636 p.L2212 0.92 HMMPfam_Carboxyl_trans HMMPfam_Carboxyl_trans;HMMPfam_Biotin_lipoyl;HMMPfam_CPSase_L_D2;HMMPfam_CPSase_L_chain;HMMPfam_Biotin_carb_C;superfamily_Single hybrid motif;superfamily_Rudiment single hybrid motif;HMMPfam_ACC_central;superfamily_ClpP/crotonase;superfamily_PreATP-grasp domain;superfamily_Glutathione synthetase ATP-binding domain-like - no_errors P2RX1 5023 genome.wustl.edu 36 17 3747882 3747882 + Missense_Mutation SNP A C C novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 A A C C A A Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f 5a9ad498-1cf3-4777-8e89-3d27d0c2b64c 17 3747882 3747882 A C SNP P2RX1 NM_002558 human genbank 54_36p -1 reviewed missense c.1175 p.L392R 1 NULL - - no_errors EPX 8288 genome.wustl.edu 36 17 53635665 53635665 + Nonsense_Mutation SNP C C T novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f 5a9ad498-1cf3-4777-8e89-3d27d0c2b64c 17 53635665 53635665 C T SNP EPX NM_000502 human genbank 54_36p 1 validated nonsense c.1933 p.R645* 0.76 HMMPfam_An_peroxidase HMMPfam_An_peroxidase;superfamily_Heme-dependent peroxidases - no_errors DDX5 1655 genome.wustl.edu 36 17 59926750 59926750 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f 5a9ad498-1cf3-4777-8e89-3d27d0c2b64c 17 59926750 59926750 C G SNP DDX5 NM_004396 human genbank 54_36p -1 validated missense c.1598 p.G533A 1 NULL HMMPfam_Helicase_C;HMMPfam_DEAD;HMMPfam_P68HR;superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors TP53 7157 genome.wustl.edu 36 17 7517842 7517842 + Missense_Mutation SNP A A T novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f 5a9ad498-1cf3-4777-8e89-3d27d0c2b64c 17 7517842 7517842 A T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.821 p.V274D 0.99 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 ZNF606 80095 genome.wustl.edu 36 19 63181780 63181780 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f 5a9ad498-1cf3-4777-8e89-3d27d0c2b64c 19 63181780 63181780 G A SNP ZNF606 NM_025027 human genbank 54_36p -1 validated missense c.2080 p.H694Y 0.08 HMMPfam_zf-C2H2 HMMPfam_zf-C2H2;superfamily_KRAB domain (Kruppel-associated box Pfam 01352);superfamily_C2H2 and C2HC zinc fingers;HMMPfam_KRAB - no_errors COL5A3 50509 genome.wustl.edu 36 19 9932135 9932135 + Silent SNP C C T novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f 5a9ad498-1cf3-4777-8e89-3d27d0c2b64c 19 9932135 9932135 C T SNP COL5A3 NM_015719 human genbank 54_36p -1 reviewed silent c.5190 p.T1730 0.13 HMMPfam_COLFI HMMPfam_COLFI;HMMPfam_Collagen;superfamily_Concanavalin A-like lectins/glucanases;HMMPfam_Laminin_G_2;superfamily_Fibrinogen C-terminal domain-like - no_errors DPP10 57628 genome.wustl.edu 36 2 116251275 116251275 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f 5a9ad498-1cf3-4777-8e89-3d27d0c2b64c 2 116251275 116251275 G A SNP DPP10 NM_020868 human genbank 54_36p 1 reviewed missense c.1243 p.V415M 0.98 NULL - - no_errors LOC653269 653269 genome.wustl.edu 36 2 130937528 130937528 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f 5a9ad498-1cf3-4777-8e89-3d27d0c2b64c 2 130937528 130937528 C T SNP LOC653269 XM_928585 human genbank 54_36p -1 model missense c.2559 p.M853I 1 NULL - - no_errors POTEKP 440915 genome.wustl.edu 36 2 132098014 132098014 + Splice_Site SNP A A G novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f 5a9ad498-1cf3-4777-8e89-3d27d0c2b64c 2 132098014 132098014 A G SNP ACTBL3 ENST00000397487 human ensembl 54_36p 1 known splice_site c.1494-2 e11-2 0 - - - no_stop_codon RAB3GAP1 22930 genome.wustl.edu 36 2 135642764 135642764 + Silent SNP C C T novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f 5a9ad498-1cf3-4777-8e89-3d27d0c2b64c 2 135642764 135642764 C T SNP RAB3GAP1 NM_012233 human genbank 54_36p 1 validated silent c.2889 p.L963 1 NULL - - no_errors TTN 7273 genome.wustl.edu 36 2 179107066 179107066 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f 5a9ad498-1cf3-4777-8e89-3d27d0c2b64c 2 179107066 179107066 G C SNP TTN NM_133378 human genbank 54_36p -1 reviewed missense c.94817 p.S31606C 0.98 NULL - - pseudogene:no_stop_codon:bad_bp_length_for_coding_region SP100 6672 genome.wustl.edu 36 2 231019810 231019812 + In_Frame_Del DEL GAA GAA - novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 GAA GAA GAA - GAA GAA Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f 5a9ad498-1cf3-4777-8e89-3d27d0c2b64c 2 231019810 231019812 GAA - DEL SP100 NM_001080391 human genbank 54_36p 1 validated in_frame_del c.472_474 p.E161in_frame_del 0.001:0.000:0.000 NULL - (deletion:cds_exon[231019778;231019861]) no_errors WDR43 23160 genome.wustl.edu 36 2 29017837 29017837 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f 5a9ad498-1cf3-4777-8e89-3d27d0c2b64c 2 29017837 29017837 G C SNP WDR43 NM_015131 human genbank 54_36p 1 validated missense c.1627 p.D543H 1 NULL - - no_errors EIF2AK2 5610 genome.wustl.edu 36 2 37228449 37228449 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f 5a9ad498-1cf3-4777-8e89-3d27d0c2b64c 2 37228449 37228449 G C SNP EIF2AK2 NM_002759 human genbank 54_36p -1 validated missense c.5 p.A2G 0.87 NULL HMMPfam_Pkinase;HMMPfam_dsrm;superfamily_Protein kinase-like (PK-like);superfamily_dsRNA-binding domain-like - no_errors TPRKB 51002 genome.wustl.edu 36 2 73815115 73815115 + Silent SNP T T C novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f 5a9ad498-1cf3-4777-8e89-3d27d0c2b64c 2 73815115 73815115 T C SNP TPRKB NM_016058 human genbank 54_36p -1 validated silent c.90 p.R30 0.99 NULL - - no_errors C2orf89 129293 genome.wustl.edu 36 2 84951253 84951253 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f 5a9ad498-1cf3-4777-8e89-3d27d0c2b64c 2 84951253 84951253 G T SNP LOC129293 NM_001080824 human genbank 54_36p -1 predicted missense c.276 p.D92E 1 NULL - - no_errors ZNF341 84905 genome.wustl.edu 36 20 31818499 31818499 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f 5a9ad498-1cf3-4777-8e89-3d27d0c2b64c 20 31818499 31818499 G C SNP ZNF341 NM_032819 human genbank 54_36p 1 validated missense c.1383 p.K461N 1 NULL - - no_errors LPIN3 64900 genome.wustl.edu 36 20 39412355 39412355 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f 5a9ad498-1cf3-4777-8e89-3d27d0c2b64c 20 39412355 39412355 G T SNP LPIN3 NM_022896 human genbank 54_36p 1 validated missense c.1006 p.D336Y 0.02 NULL - - no_errors DIDO1 11083 genome.wustl.edu 36 20 61009072 61009072 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f 5a9ad498-1cf3-4777-8e89-3d27d0c2b64c 20 61009072 61009072 C T SNP DIDO1 NM_033081 human genbank 54_36p -1 reviewed missense c.1246 p.D416N 1 NULL - - no_errors ZNRF3 84133 genome.wustl.edu 36 22 27775294 27775294 + Silent SNP C C G novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f 5a9ad498-1cf3-4777-8e89-3d27d0c2b64c 22 27775294 27775294 C G SNP ZNRF3 NM_032173 human genbank 54_36p 1 validated silent c.825 p.T275 0.99 NULL - - no_errors ATP2B2 491 genome.wustl.edu 36 3 10345704 10345704 + Nonsense_Mutation SNP C A A novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f 5a9ad498-1cf3-4777-8e89-3d27d0c2b64c 3 10345704 10345704 C A SNP ATP2B2 NM_001001331 human genbank 54_36p -1 reviewed nonsense c.3526 p.E1176* 1 NULL HMMPfam_Cation_ATPase_N;HMMPfam_Hydrolase;HMMPfam_Cation_ATPase_C;HMMPfam_E1-E2_ATPase;superfamily_HAD-like;superfamily_Calcium ATPase transduction domain A;superfamily_Metal cation-transporting ATPase ATP-binding domain N;superfamily_Calcium ATPase transmembrane domain M - no_errors QDPR 5860 genome.wustl.edu 36 4 17115158 17115158 + Missense_Mutation SNP C A A novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f 5a9ad498-1cf3-4777-8e89-3d27d0c2b64c 4 17115158 17115158 C A SNP QDPR NM_000320 human genbank 54_36p -1 reviewed missense c.237 p.K79N 1 HMMPfam_adh_short HMMPfam_adh_short;superfamily_NAD(P)-binding Rossmann-fold domains - no_errors KLKB1 3818 genome.wustl.edu 36 4 187392185 187392185 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f 5a9ad498-1cf3-4777-8e89-3d27d0c2b64c 4 187392185 187392185 C A SNP KLKB1 NM_000892 human genbank 54_36p 1 reviewed missense c.307 p.Q103K 1 NULL - - no_errors LYAR 55646 genome.wustl.edu 36 4 4336351 4336351 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f 5a9ad498-1cf3-4777-8e89-3d27d0c2b64c 4 4336351 4336351 T C SNP LYAR NM_017816 human genbank 54_36p -1 validated missense c.20 p.N7S 1 NULL - - no_errors PCDHB12 56124 genome.wustl.edu 36 5 140568714 140568714 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f 5a9ad498-1cf3-4777-8e89-3d27d0c2b64c 5 140568714 140568714 C G SNP PCDHB12 NM_018932 human genbank 54_36p 1 reviewed missense c.51 p.F17L 0 NULL - - no_errors KIF4B 285643 genome.wustl.edu 36 5 154375750 154375750 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f 5a9ad498-1cf3-4777-8e89-3d27d0c2b64c 5 154375750 154375750 G T SNP KIF4B NM_001099293 human genbank 54_36p 1 provisional missense c.2138 p.R713L 1 NULL - - no_errors ODZ2 57451 genome.wustl.edu 36 5 167604048 167604048 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f 5a9ad498-1cf3-4777-8e89-3d27d0c2b64c 5 167604048 167604048 C G SNP ODZ2 ENST00000388903 human ensembl 54_36p 1 known missense c.5563 p.R1855G 1 NULL - - no_errors RPL37 6167 genome.wustl.edu 36 5 40871055 40871055 + Silent SNP C C T novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f 5a9ad498-1cf3-4777-8e89-3d27d0c2b64c 5 40871055 40871055 C T SNP RPL37 ENST00000315577 human ensembl 54_36p -1 known silent c.15 p.P5 0.05 NULL - - no_start_codon ADAMTS16 170690 genome.wustl.edu 36 5 5239221 5239221 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f 5a9ad498-1cf3-4777-8e89-3d27d0c2b64c 5 5239221 5239221 T C SNP ADAMTS16 NM_139056 human genbank 54_36p 1 reviewed missense c.820 p.C274R 0 NULL - - no_errors PEX3 8504 genome.wustl.edu 36 6 143834278 143834278 + Missense_Mutation SNP T T A novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f 5a9ad498-1cf3-4777-8e89-3d27d0c2b64c 6 143834278 143834278 T A SNP PEX3 NM_003630 human genbank 54_36p 1 reviewed missense c.522 p.D174E 1 NULL - - no_errors OR2J2 26707 genome.wustl.edu 36 6 29250309 29250310 + Missense_Mutation DNP GG GG TT novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 GG GG Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f 5a9ad498-1cf3-4777-8e89-3d27d0c2b64c 6 29250309 29250310 GG TT DNP OR2J2 NM_030905 human genbank 54_36p 1 validated missense c.918_919 p.LG306FW 0.007:0.005 NULL - - no_errors OR5V1 81696 genome.wustl.edu 36 6 29339507 29339507 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f 5a9ad498-1cf3-4777-8e89-3d27d0c2b64c 6 29339507 29339507 C A SNP uc003nmb.1 ENST00000377164 human ensembl 54_36p -1 known missense c.329 p.C110F 0.3 NULL - - no_errors DAAM2 23500 genome.wustl.edu 36 6 39943353 39943364 + In_Frame_Del DEL TCCACACCTCAC TCCACACCTCAC - novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 TCCACACCTCAC TCCACACCTCAC TCCACACCTCAC - TCCACACCTCAC TCCACACCTCAC Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f 5a9ad498-1cf3-4777-8e89-3d27d0c2b64c 6 39943353 39943364 TCCACACCTCAC - DEL DAAM2 NM_015345 human genbank 54_36p 1 validated in_frame_del c.518_529 p.HTSL174in_frame_del 1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.958:0.999:1.000:0.997:0.998 HMMPfam_Drf_GBD HMMPfam_Drf_FH3;HMMPfam_Drf_GBD;HMMPfam_FH2;superfamily_Formin homology 2 domain (FH2 domain);superfamily_ARM repeat (deletion:cds_exon[39943264;39943597]) no_errors LRFN2 57497 genome.wustl.edu 36 6 40467667 40467667 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f 5a9ad498-1cf3-4777-8e89-3d27d0c2b64c 6 40467667 40467667 G A SNP LRFN2 NM_020737 human genbank 54_36p -1 provisional missense c.2363 p.T788M 1 NULL HMMPfam_LRR_1;HMMPfam_fn3;superfamily_Fibronectin type III;HMMPfam_I-set;superfamily_Immunoglobulin;superfamily_L domain-like - no_errors ZNF862 643641 genome.wustl.edu 36 7 149176253 149176253 + Silent SNP G G T novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f 5a9ad498-1cf3-4777-8e89-3d27d0c2b64c 7 149176253 149176253 G T SNP ZNF862 NM_001099220 human genbank 54_36p 1 provisional silent c.738 p.G246 1 NULL - - no_errors ANLN 54443 genome.wustl.edu 36 7 36449898 36449898 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f 5a9ad498-1cf3-4777-8e89-3d27d0c2b64c 7 36449898 36449898 G C SNP ANLN NM_018685 human genbank 54_36p 1 validated missense c.2980 p.E994Q 1 HMMPfam_PH HMMPfam_PH;superfamily_PH domain-like - no_errors C7orf26 79034 genome.wustl.edu 36 7 6606257 6606257 + Missense_Mutation SNP C G G novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 C C G G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f 5a9ad498-1cf3-4777-8e89-3d27d0c2b64c 7 6606257 6606257 C G SNP C7orf26 NM_024067 human genbank 54_36p 1 predicted missense c.853 p.L285V 0.02 NULL - - no_errors C7orf28B 221960 genome.wustl.edu 36 7 6830641 6830641 + Missense_Mutation SNP A A C novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f 5a9ad498-1cf3-4777-8e89-3d27d0c2b64c 7 6830641 6830641 A C SNP C7orf28B NM_198097 human genbank 54_36p -1 predicted missense c.282 p.N94K 1 NULL - - no_errors LOC401537 401537 genome.wustl.edu 36 9 90129592 90129592 + RNA SNP C C T novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f 5a9ad498-1cf3-4777-8e89-3d27d0c2b64c 9 90129592 90129592 C T SNP LOC401537 XR_017028 human genbank 54_36p 1 model rna NULL NULL 1 - - - pseudogene TKTL1 8277 genome.wustl.edu 36 X 153196795 153196795 + Missense_Mutation SNP G A A novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 G G A A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f 5a9ad498-1cf3-4777-8e89-3d27d0c2b64c X 153196795 153196795 G A SNP TKTL1 NM_012253 human genbank 54_36p 1 validated missense c.943 p.D315N 1 HMMPfam_Transket_pyr HMMPfam_Transketolase_N;HMMPfam_Transket_pyr;HMMPfam_Transketolase_C;superfamily_TK C-terminal domain-like;superfamily_Thiamin diphosphate-binding fold (THDP-binding) - no_errors