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 LRIG2 9860 genome.wustl.edu 36 1 113458810 113458810 + Silent SNP G G A novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7667c0e6-e44a-448f-b118-6e2171a99b6c 41f442b7-c8ce-437d-abac-3130c8b51cb3 1 113458810 113458810 G A SNP LRIG2 NM_014813 human genbank 54_36p 1 provisional silent c.2319 p.G773 0.98 NULL - - no_errors PADI2 11240 genome.wustl.edu 36 1 17274006 17274006 + Missense_Mutation SNP G G A novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7667c0e6-e44a-448f-b118-6e2171a99b6c 41f442b7-c8ce-437d-abac-3130c8b51cb3 1 17274006 17274006 G A SNP PADI2 NM_007365 human genbank 54_36p -1 reviewed missense c.1481 p.T494I 1 NULL - - no_errors RGS21 431704 genome.wustl.edu 36 1 190583138 190583138 + Missense_Mutation SNP C C A novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7667c0e6-e44a-448f-b118-6e2171a99b6c 41f442b7-c8ce-437d-abac-3130c8b51cb3 1 190583138 190583138 C A SNP RGS21 NM_001039152 human genbank 54_36p 1 provisional missense c.84 p.N28K 0.96 NULL - - no_errors WNT4 54361 genome.wustl.edu 36 1 22326371 22326371 + Silent SNP G G A novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7667c0e6-e44a-448f-b118-6e2171a99b6c 41f442b7-c8ce-437d-abac-3130c8b51cb3 1 22326371 22326371 G A SNP WNT4 ENST00000374655 human ensembl 54_36p -1 known silent c.504 p.T168 NULL - - no_errors COL16A1 1307 genome.wustl.edu 36 1 31936097 31936097 + Silent SNP G G C novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7667c0e6-e44a-448f-b118-6e2171a99b6c 41f442b7-c8ce-437d-abac-3130c8b51cb3 1 31936097 31936097 G C SNP COL16A1 NM_001856 human genbank 54_36p -1 reviewed silent c.654 p.V218 0.13 NULL - - no_errors DOCK1 1793 genome.wustl.edu 36 10 129062457 129062457 + Missense_Mutation SNP G G A novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7667c0e6-e44a-448f-b118-6e2171a99b6c 41f442b7-c8ce-437d-abac-3130c8b51cb3 10 129062457 129062457 G A SNP DOCK1 ENST00000398025 human ensembl 54_36p 1 known missense c.3799 p.V1267I 1 NULL - - no_errors MBL2 4153 genome.wustl.edu 36 10 54201258 54201258 + Silent SNP G G T novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7667c0e6-e44a-448f-b118-6e2171a99b6c 41f442b7-c8ce-437d-abac-3130c8b51cb3 10 54201258 54201258 G T SNP MBL2 NM_000242 human genbank 54_36p -1 reviewed silent c.144 p.G48 1 NULL HMMPfam_Lectin_C;HMMPfam_Collagen;superfamily_C-type lectin-like - no_errors SLC17A6 57084 genome.wustl.edu 36 11 22354787 22354787 + Missense_Mutation SNP A A G novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7667c0e6-e44a-448f-b118-6e2171a99b6c 41f442b7-c8ce-437d-abac-3130c8b51cb3 11 22354787 22354787 A G SNP SLC17A6 NM_020346 human genbank 54_36p 1 validated missense c.1406 p.K469R 1 HMMPfam_MFS_1 HMMPfam_MFS_1;superfamily_MFS general substrate transporter - no_errors TP53I11 9537 genome.wustl.edu 36 11 44913053 44913053 + Missense_Mutation SNP A A C novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7667c0e6-e44a-448f-b118-6e2171a99b6c 41f442b7-c8ce-437d-abac-3130c8b51cb3 11 44913053 44913053 A C SNP TP53I11 NM_001076787 human genbank 54_36p -1 validated missense c.528 p.I176M 1 NULL - - no_errors TUB 7275 genome.wustl.edu 36 11 8079097 8079097 + Missense_Mutation SNP T T A novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7667c0e6-e44a-448f-b118-6e2171a99b6c 41f442b7-c8ce-437d-abac-3130c8b51cb3 11 8079097 8079097 T A SNP TUB NM_003320 human genbank 54_36p 1 reviewed missense c.1529 p.F510Y 1 HMMPfam_Tub HMMPfam_Tub;superfamily_Transcriptional factor tubby C-terminal domain - no_errors KCNA5 3741 genome.wustl.edu 36 12 5024132 5024132 + Silent SNP G G A novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7667c0e6-e44a-448f-b118-6e2171a99b6c 41f442b7-c8ce-437d-abac-3130c8b51cb3 12 5024132 5024132 G A SNP KCNA5 NM_002234 human genbank 54_36p 1 reviewed silent c.558 p.R186 0.98 HMMPfam_K_tetra HMMPfam_K_tetra;HMMPfam_Ion_trans;superfamily_POZ domain;superfamily_Voltage-gated potassium channels - no_errors MYO16 23026 genome.wustl.edu 36 13 108116425 108116425 + Silent SNP G G A novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7667c0e6-e44a-448f-b118-6e2171a99b6c 41f442b7-c8ce-437d-abac-3130c8b51cb3 13 108116425 108116425 G A SNP MYO16 NM_015011 human genbank 54_36p 1 validated silent c.153 p.A51 0.01 NULL HMMPfam_IQ;HMMPfam_Myosin_head;HMMPfam_Ank;superfamily_Ankyrin repeat;superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors POSTN 10631 genome.wustl.edu 36 13 37036662 37036663 + Frame_Shift_Ins INS - - T Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 - - - T - - Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7667c0e6-e44a-448f-b118-6e2171a99b6c 41f442b7-c8ce-437d-abac-3130c8b51cb3 13 37036662 37036663 - T INS POSTN NM_006475 human genbank 54_36p -1 validated frame_shift_ins c.2467_2466 p.V822fs 0.975:0.976 NULL HMMPfam_Fasciclin,HMMPfam_EMI,superfamily_FAS1 domain - no_errors PSMB5 5693 genome.wustl.edu 36 14 22573899 22573899 + Missense_Mutation SNP A A T novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7667c0e6-e44a-448f-b118-6e2171a99b6c 41f442b7-c8ce-437d-abac-3130c8b51cb3 14 22573899 22573899 A T SNP PSMB5 NM_002797 human genbank 54_36p -1 reviewed missense c.32 p.L11Q 0.98 NULL - - no_errors DLGAP5 9787 genome.wustl.edu 36 14 54712398 54712398 + Missense_Mutation SNP A A C novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7667c0e6-e44a-448f-b118-6e2171a99b6c 41f442b7-c8ce-437d-abac-3130c8b51cb3 14 54712398 54712398 A C SNP DLGAP5 NM_014750 human genbank 54_36p -1 provisional missense c.1141 p.C381G 0.01 NULL - - no_errors DUOXA1 90527 genome.wustl.edu 36 15 43197528 43197528 + Silent SNP C C T novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7667c0e6-e44a-448f-b118-6e2171a99b6c 41f442b7-c8ce-437d-abac-3130c8b51cb3 15 43197528 43197528 C T SNP DUOXA1 NM_144565 human genbank 54_36p -1 provisional silent c.1023 p.A341 NULL - - no_errors GLCE 26035 genome.wustl.edu 36 15 67348201 67348201 + Missense_Mutation SNP C C T novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7667c0e6-e44a-448f-b118-6e2171a99b6c 41f442b7-c8ce-437d-abac-3130c8b51cb3 15 67348201 67348201 C T SNP GLCE NM_015554 human genbank 54_36p 1 validated missense c.1418 p.A473V 1 HMMPfam_C5-epim_C HMMPfam_C5-epim_C - no_errors SCAMP5 192683 genome.wustl.edu 36 15 73096050 73096050 + Missense_Mutation SNP G G A novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7667c0e6-e44a-448f-b118-6e2171a99b6c 41f442b7-c8ce-437d-abac-3130c8b51cb3 15 73096050 73096050 G A SNP SCAMP5 NM_138967 human genbank 54_36p 1 validated missense c.200 p.G67E 1 HMMPfam_SCAMP HMMPfam_SCAMP - no_errors ZKSCAN2 342357 genome.wustl.edu 36 16 25174196 25174196 + Missense_Mutation SNP G G C novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7667c0e6-e44a-448f-b118-6e2171a99b6c 41f442b7-c8ce-437d-abac-3130c8b51cb3 16 25174196 25174196 G C SNP ZKSCAN2 NM_001012981 human genbank 54_36p -1 validated missense c.418 p.R140G NULL - - no_errors LOC729621 729621 genome.wustl.edu 36 17 56159371 56159371 + Silent SNP C C T novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7667c0e6-e44a-448f-b118-6e2171a99b6c 41f442b7-c8ce-437d-abac-3130c8b51cb3 17 56159371 56159371 C T SNP LOC729621 XM_001133900 human genbank 54_36p -1 model silent c.255 p.Q85 1 NULL - - pseudogene TP53 7157 genome.wustl.edu 36 17 7518264 7518264 + Missense_Mutation SNP G G A novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7667c0e6-e44a-448f-b118-6e2171a99b6c 41f442b7-c8ce-437d-abac-3130c8b51cb3 17 7518264 7518264 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.742 p.R248W 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 CCDC40 55036 genome.wustl.edu 36 17 75676068 75676068 + Silent SNP C C T novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7667c0e6-e44a-448f-b118-6e2171a99b6c 41f442b7-c8ce-437d-abac-3130c8b51cb3 17 75676068 75676068 C T SNP CCDC40 NM_017950 human genbank 54_36p 1 validated silent c.2517 p.D839 1 NULL - - no_errors PDE11A 50940 genome.wustl.edu 36 2 178644726 178644726 + Missense_Mutation SNP C C T novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7667c0e6-e44a-448f-b118-6e2171a99b6c 41f442b7-c8ce-437d-abac-3130c8b51cb3 2 178644726 178644726 C T SNP PDE11A NM_016953 human genbank 54_36p -1 reviewed missense c.685 p.V229I 1 HMMPfam_GAF HMMPfam_PDEase_I;HMMPfam_GAF;superfamily_HD-domain/PDEase-like;superfamily_GAF domain-like - no_errors SPAG16 79582 genome.wustl.edu 36 2 213937101 213937101 + Silent SNP T T C novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7667c0e6-e44a-448f-b118-6e2171a99b6c 41f442b7-c8ce-437d-abac-3130c8b51cb3 2 213937101 213937101 T C SNP SPAG16 NM_024532 human genbank 54_36p 1 validated silent c.819 p.G273 0.1 NULL - - no_errors CDH22 64405 genome.wustl.edu 36 20 44248970 44248970 + Missense_Mutation SNP C C T novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7667c0e6-e44a-448f-b118-6e2171a99b6c 41f442b7-c8ce-437d-abac-3130c8b51cb3 20 44248970 44248970 C T SNP CDH22 NM_021248 human genbank 54_36p -1 reviewed missense c.1447 p.A483T 0.24 HMMPfam_Cadherin HMMPfam_Cadherin;superfamily_Cadherin-like;superfamily_MFS general substrate transporter;HMMPfam_Cadherin_C - no_errors SLC35C2 51006 genome.wustl.edu 36 20 44417897 44417897 + Missense_Mutation SNP G G A novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7667c0e6-e44a-448f-b118-6e2171a99b6c 41f442b7-c8ce-437d-abac-3130c8b51cb3 20 44417897 44417897 G A SNP SLC35C2 NM_015945 human genbank 54_36p -1 reviewed missense c.359 p.A120V 1 NULL - - no_errors CBLN4 140689 genome.wustl.edu 36 20 54012421 54012421 + Missense_Mutation SNP C T T novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7667c0e6-e44a-448f-b118-6e2171a99b6c 41f442b7-c8ce-437d-abac-3130c8b51cb3 20 54012421 54012421 C T SNP CBLN4 NM_080617 human genbank 54_36p -1 reviewed missense c.214 p.A72T 1 NULL - - no_errors POTEH 23784 genome.wustl.edu 36 22 14667661 14667661 + Silent SNP G G A novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7667c0e6-e44a-448f-b118-6e2171a99b6c 41f442b7-c8ce-437d-abac-3130c8b51cb3 22 14667661 14667661 G A SNP POTEH ENST00000354997 human ensembl 54_36p -1 known silent c.225 p.S75 0 NULL - - no_errors LOC649264 649264 genome.wustl.edu 36 22 22042642 22042642 + Missense_Mutation SNP G G A novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7667c0e6-e44a-448f-b118-6e2171a99b6c 41f442b7-c8ce-437d-abac-3130c8b51cb3 22 22042642 22042642 G A SNP LOC649264 XM_001131286 human genbank 54_36p -1 model missense c.335 p.S112F 1 NULL - - no_errors LOC645904 645904 genome.wustl.edu 36 22 22132596 22132596 + Silent SNP C C T novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7667c0e6-e44a-448f-b118-6e2171a99b6c 41f442b7-c8ce-437d-abac-3130c8b51cb3 22 22132596 22132596 C T SNP LOC645904 XM_928876 human genbank 54_36p 1 model silent c.132 p.T44 0.22 NULL - - no_errors L3MBTL2 83746 genome.wustl.edu 36 22 39935693 39935693 + Silent SNP G G A Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7667c0e6-e44a-448f-b118-6e2171a99b6c 41f442b7-c8ce-437d-abac-3130c8b51cb3 22 39935693 39935693 G A SNP L3MBTL2 NM_031488 human genbank 54_36p 1 validated silent c.72 p.L24 1 NULL HMMPfam_MBT,superfamily_Tudor/PWWP/MBT - no_errors L3MBTL2 83746 genome.wustl.edu 36 22 39935707 39935707 + Missense_Mutation SNP G G A Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7667c0e6-e44a-448f-b118-6e2171a99b6c 41f442b7-c8ce-437d-abac-3130c8b51cb3 22 39935707 39935707 G A SNP L3MBTL2 NM_031488 human genbank 54_36p 1 validated missense c.86 p.G29D 1 NULL HMMPfam_MBT,superfamily_Tudor/PWWP/MBT - no_errors ENSG00000215548 0 genome.wustl.edu 36 20 28226046 28226046 + Missense_Mutation SNP A C C novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 A A C C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7667c0e6-e44a-448f-b118-6e2171a99b6c 41f442b7-c8ce-437d-abac-3130c8b51cb3 20 28226046 28226046 A C SNP ENSG00000215548 ENST00000358464 human ensembl 54_36p 1 known missense c.155 p.Q52P 0.091 NULL - - no_stop_codon SIDT1 54847 genome.wustl.edu 36 3 114769133 114769133 + Missense_Mutation SNP C C T novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7667c0e6-e44a-448f-b118-6e2171a99b6c 41f442b7-c8ce-437d-abac-3130c8b51cb3 3 114769133 114769133 C T SNP SIDT1 NM_017699 human genbank 54_36p 1 validated missense c.401 p.A134V 0.99 NULL - - no_errors STXBP5L 9515 genome.wustl.edu 36 3 122456552 122456552 + Missense_Mutation SNP A A G novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7667c0e6-e44a-448f-b118-6e2171a99b6c 41f442b7-c8ce-437d-abac-3130c8b51cb3 3 122456552 122456552 A G SNP STXBP5L NM_014980 human genbank 54_36p 1 validated missense c.1562 p.Y521C 1 NULL - - no_errors BOD1L 259282 genome.wustl.edu 36 4 13221714 13221714 + Missense_Mutation SNP G G A novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7667c0e6-e44a-448f-b118-6e2171a99b6c 41f442b7-c8ce-437d-abac-3130c8b51cb3 4 13221714 13221714 G A SNP BOD1L NM_148894 human genbank 54_36p -1 validated missense c.1433 p.S478L 1 NULL - - no_errors FGB 2244 genome.wustl.edu 36 4 155711191 155711191 + Missense_Mutation SNP G G A novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7667c0e6-e44a-448f-b118-6e2171a99b6c 41f442b7-c8ce-437d-abac-3130c8b51cb3 4 155711191 155711191 G A SNP FGB NM_005141 human genbank 54_36p 1 reviewed missense c.1415 p.G472E 1 NULL - - no_errors SLIT2 9353 genome.wustl.edu 36 4 20102532 20102532 + Missense_Mutation SNP G G A novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7667c0e6-e44a-448f-b118-6e2171a99b6c 41f442b7-c8ce-437d-abac-3130c8b51cb3 4 20102532 20102532 G A SNP SLIT2 NM_004787 human genbank 54_36p 1 provisional missense c.826 p.A276T 0.92 HMMPfam_LRRNT superfamily_L domain-like;superfamily_EGF/Laminin;HMMPfam_LRRNT;HMMPfam_LRRCT;HMMPfam_LRR_1;HMMPfam_EGF;superfamily_Concanavalin A-like lectins/glucanases;HMMPfam_Laminin_G_2 - no_errors FBN2 2201 genome.wustl.edu 36 5 127709144 127709144 + Missense_Mutation SNP C C A novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7667c0e6-e44a-448f-b118-6e2171a99b6c 41f442b7-c8ce-437d-abac-3130c8b51cb3 5 127709144 127709144 C A SNP FBN2 NM_001999 human genbank 54_36p -1 reviewed missense c.3021 p.W1007C 1 NULL HMMPfam_EGF_CA;superfamily_Cadherin-like;superfamily_EGF/Laminin;superfamily_TB module/8-cys domain;HMMPfam_TB;HMMPfam_EGF;superfamily_Concanavalin A-like lectins/glucanases;superfamily_Growth factor receptor domain - no_errors PPP2R2B 5521 genome.wustl.edu 36 5 145949851 145949851 + Missense_Mutation SNP A A C novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7667c0e6-e44a-448f-b118-6e2171a99b6c 41f442b7-c8ce-437d-abac-3130c8b51cb3 5 145949851 145949851 A C SNP PPP2R2B NM_181676 human genbank 54_36p -1 reviewed missense c.1193 p.V398G 1 NULL HMMPfam_WD40;superfamily_WD40 repeat-like - no_errors ADAMTS12 81792 genome.wustl.edu 36 5 33651729 33651729 + Silent SNP C C G novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7667c0e6-e44a-448f-b118-6e2171a99b6c 41f442b7-c8ce-437d-abac-3130c8b51cb3 5 33651729 33651729 C G SNP ADAMTS12 NM_030955 human genbank 54_36p -1 reviewed silent c.2349 p.L783 1 HMMPfam_ADAM_spacer1 "HMMPfam_TSP_1;HMMPfam_Reprolysin;HMMPfam_Pep_M12B_propep;HMMPfam_ADAM_spacer1;superfamily_Metalloproteases (""zincins"") catalytic domain;superfamily_TSP-1 type 1 repeat" - no_errors LYPLA2P1 653639 genome.wustl.edu 36 6 33441941 33441941 + RNA SNP C C T novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7667c0e6-e44a-448f-b118-6e2171a99b6c 41f442b7-c8ce-437d-abac-3130c8b51cb3 6 33441941 33441941 C T SNP LYPLA2P1 NR_001444 human genbank 54_36p -1 provisional rna NULL NULL 0.97 - - - pseudogene CLDN15 24146 genome.wustl.edu 36 7 100664359 100664359 + Missense_Mutation SNP C C T novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7667c0e6-e44a-448f-b118-6e2171a99b6c 41f442b7-c8ce-437d-abac-3130c8b51cb3 7 100664359 100664359 C T SNP CLDN15 NM_014343 human genbank 54_36p -1 provisional missense c.302 p.R101H 1 NULL - - no_errors POLR2J3 548644 genome.wustl.edu 36 7 101997426 101997426 + Missense_Mutation SNP C C G novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7667c0e6-e44a-448f-b118-6e2171a99b6c 41f442b7-c8ce-437d-abac-3130c8b51cb3 7 101997426 101997426 C G SNP POLR2J3 NM_001097615 human genbank 54_36p -1 reviewed missense c.102 p.M34I 1 NULL - - no_errors DNAJB6 10049 genome.wustl.edu 36 7 156870413 156870413 + Silent SNP G G A novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7667c0e6-e44a-448f-b118-6e2171a99b6c 41f442b7-c8ce-437d-abac-3130c8b51cb3 7 156870413 156870413 G A SNP DNAJB6 NM_058246 human genbank 54_36p 1 reviewed silent c.570 p.S190 0.66 NULL - - no_errors BLVRA 644 genome.wustl.edu 36 7 43813141 43813141 + Nonsense_Mutation SNP C C T Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7667c0e6-e44a-448f-b118-6e2171a99b6c 41f442b7-c8ce-437d-abac-3130c8b51cb3 7 43813141 43813141 C T SNP BLVRA NM_000712 human genbank 54_36p 1 validated nonsense c.673 p.R225* 0.755 HMMPfam_Biliv-reduc_cat HMMPfam_GFO_IDH_MocA,HMMPfam_Biliv-reduc_cat,superfamily_NAD(P)-binding Rossmann-fold domains,superfamily_Glyceraldehyde-3-phosphate dehydrogenase-like C-terminal domain - no_errors AUTS2 26053 genome.wustl.edu 36 7 69867749 69867749 + Silent SNP G G A novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7667c0e6-e44a-448f-b118-6e2171a99b6c 41f442b7-c8ce-437d-abac-3130c8b51cb3 7 69867749 69867749 G A SNP AUTS2 NM_015570 human genbank 54_36p 1 validated silent c.1290 p.P430 0.09 NULL - - no_errors SYBU 55638 genome.wustl.edu 36 8 110656324 110656324 + Missense_Mutation SNP C C T novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7667c0e6-e44a-448f-b118-6e2171a99b6c 41f442b7-c8ce-437d-abac-3130c8b51cb3 8 110656324 110656324 C T SNP GOLSYN NM_001099744 human genbank 54_36p -1 validated missense c.1979 p.R660H 0.75 NULL - - no_errors FAM83A 84985 genome.wustl.edu 36 8 124264735 124264735 + Missense_Mutation SNP G G A novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7667c0e6-e44a-448f-b118-6e2171a99b6c 41f442b7-c8ce-437d-abac-3130c8b51cb3 8 124264735 124264735 G A SNP FAM83A NM_032899 human genbank 54_36p 1 validated missense c.458 p.R153H 1 HMMPfam_DUF1669 HMMPfam_DUF1669;superfamily_Phospholipase D/nuclease - no_errors ZNF16 7564 genome.wustl.edu 36 8 146128591 146128591 + Missense_Mutation SNP G G T novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7667c0e6-e44a-448f-b118-6e2171a99b6c 41f442b7-c8ce-437d-abac-3130c8b51cb3 8 146128591 146128591 G T SNP ZNF16 NM_001029976 human genbank 54_36p -1 reviewed missense c.386 p.S129Y NULL - - no_errors MYOM2 9172 genome.wustl.edu 36 8 2044699 2044699 + Silent SNP T T C novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7667c0e6-e44a-448f-b118-6e2171a99b6c 41f442b7-c8ce-437d-abac-3130c8b51cb3 8 2044699 2044699 T C SNP MYOM2 NM_003970 human genbank 54_36p 1 validated silent c.3150 p.I1050 0.88 NULL HMMPfam_fn3;superfamily_Fibronectin type III;HMMPfam_I-set;superfamily_Immunoglobulin - no_errors DNM1 1759 genome.wustl.edu 36 9 130048595 130048595 + Silent SNP G G A novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7667c0e6-e44a-448f-b118-6e2171a99b6c 41f442b7-c8ce-437d-abac-3130c8b51cb3 9 130048595 130048595 G A SNP DNM1 NM_004408 human genbank 54_36p 1 reviewed silent c.1773 p.T591 0.84 HMMPfam_PH HMMPfam_Dynamin_M;HMMPfam_Dynamin_N;HMMPfam_PH;HMMPfam_GED;superfamily_PH domain-like;superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors IARS 3376 genome.wustl.edu 36 9 94052860 94052860 + Missense_Mutation SNP G G C novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7667c0e6-e44a-448f-b118-6e2171a99b6c 41f442b7-c8ce-437d-abac-3130c8b51cb3 9 94052860 94052860 G C SNP IARS NM_002161 human genbank 54_36p -1 reviewed missense c.2385 p.D795E 1 HMMPfam_Anticodon_1 HMMPfam_tRNA-synt_1;superfamily_ValRS/IleRS/LeuRS editing domain;superfamily_Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases;HMMPfam_Anticodon_1;superfamily_Nucleotidylyl transferase - no_errors LOC653354 653354 genome.wustl.edu 36 X 100739353 100739353 + Nonsense_Mutation SNP T T A novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7667c0e6-e44a-448f-b118-6e2171a99b6c 41f442b7-c8ce-437d-abac-3130c8b51cb3 X 100739353 100739353 T A SNP LOC653354 XM_001717888 human genbank 54_36p 1 model nonsense c.251 p.L84* 0.01 NULL - - no_errors SMC1A 8243 genome.wustl.edu 36 X 53449317 53449317 + Missense_Mutation SNP C C A novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7667c0e6-e44a-448f-b118-6e2171a99b6c 41f442b7-c8ce-437d-abac-3130c8b51cb3 X 53449317 53449317 C A SNP SMC1A NM_006306 human genbank 54_36p -1 reviewed missense c.1744 p.D582Y 1 HMMPfam_SMC_N:HMMPfam_SMC_hinge HMMPfam_SMC_N;HMMPfam_SMC_hinge;superfamily_Spectrin repeat;superfamily_P-loop containing nucleoside triphosphate hydrolases;superfamily_Smc hinge domain - no_errors L3MBTL2 83746 genome.wustl.edu 36 22 39935678 39935679 + Missense_Mutation DNP GG GG AA Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 GG GG GG AA GG GG Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7667c0e6-e44a-448f-b118-6e2171a99b6c 41f442b7-c8ce-437d-abac-3130c8b51cb3 22 39935678 39935679 GG AA DNP L3MBTL2 NM_031488 human genbank 54_36p 1 validated missense c.57_58 p.E20K 1.000:1.000 NULL superfamily_Tudor/PWWP/MBT,HMMSmart_SM00561,HMMPfam_MBT - no_errors