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 LOC343495 343495 genome.wustl.edu 36 1 119563486 119563486 + RNA SNP C C T novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9cdb7821-fe43-46cd-94f3-b9d68b9ce21f 10ce2c8a-a622-4457-9b5e-e464b260270a 1 119563486 119563486 C T SNP LOC343495 XR_016540 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene GOLPH3L 55204 genome.wustl.edu 36 1 148900984 148900984 + Missense_Mutation SNP A A T novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9cdb7821-fe43-46cd-94f3-b9d68b9ce21f 10ce2c8a-a622-4457-9b5e-e464b260270a 1 148900984 148900984 A T SNP GOLPH3L NM_018178 human genbank 54_36p -1 reviewed missense c.360 p.D120E 1 NULL - - no_errors RASAL2 9462 genome.wustl.edu 36 1 176687333 176687333 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9cdb7821-fe43-46cd-94f3-b9d68b9ce21f 10ce2c8a-a622-4457-9b5e-e464b260270a 1 176687333 176687333 G C SNP RASAL2 NM_170692 human genbank 54_36p 1 reviewed missense c.1578 p.E526D 1 HMMPfam_RasGAP HMMPfam_C2;HMMPfam_RasGAP;superfamily_GTPase activation domain GAP;superfamily_C2 domain (Calcium/lipid-binding domain CaLB);superfamily_PH domain-like;superfamily_Myosin phosphatase inhibitor 17kDa protein CPI-17 - no_errors RGS8 85397 genome.wustl.edu 36 1 180883954 180883954 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9cdb7821-fe43-46cd-94f3-b9d68b9ce21f 10ce2c8a-a622-4457-9b5e-e464b260270a 1 180883954 180883954 G C SNP RGS8 NM_033345 human genbank 54_36p -1 reviewed missense c.355 p.L119V 1 NULL - - no_errors RGL1 23179 genome.wustl.edu 36 1 182083355 182083355 + Silent SNP A A G novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9cdb7821-fe43-46cd-94f3-b9d68b9ce21f 10ce2c8a-a622-4457-9b5e-e464b260270a 1 182083355 182083355 A G SNP RGL1 NM_015149 human genbank 54_36p 1 validated silent c.276 p.T92 0.98 NULL HMMPfam_RA;HMMPfam_RasGEF_N;HMMPfam_RasGEF;superfamily_Ras GEF;superfamily_Ubiquitin-like - no_errors RGS18 64407 genome.wustl.edu 36 1 190395051 190395051 + Silent SNP T T G novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9cdb7821-fe43-46cd-94f3-b9d68b9ce21f 10ce2c8a-a622-4457-9b5e-e464b260270a 1 190395051 190395051 T G SNP RGS18 NM_130782 human genbank 54_36p 1 reviewed silent c.198 p.S66 0.29 NULL - - no_errors FCAMR 83953 genome.wustl.edu 36 1 205207598 205207598 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9cdb7821-fe43-46cd-94f3-b9d68b9ce21f 10ce2c8a-a622-4457-9b5e-e464b260270a 1 205207598 205207598 C G SNP FCAMR ENST00000400962 human ensembl 54_36p -1 known missense c.61 p.E21Q NULL - - no_errors CR1 1378 genome.wustl.edu 36 1 205851743 205851743 + Missense_Mutation SNP A A T novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9cdb7821-fe43-46cd-94f3-b9d68b9ce21f 10ce2c8a-a622-4457-9b5e-e464b260270a 1 205851743 205851743 A T SNP CR1 NM_000651 human genbank 54_36p 1 reviewed missense c.6394 p.S2132C NULL - - no_errors USP48 84196 genome.wustl.edu 36 1 21894209 21894209 + Missense_Mutation SNP T T A novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9cdb7821-fe43-46cd-94f3-b9d68b9ce21f 10ce2c8a-a622-4457-9b5e-e464b260270a 1 21894209 21894209 T A SNP USP48 NM_032236 human genbank 54_36p -1 reviewed missense c.2820 p.K940N 1 NULL - - no_errors TESK2 10420 genome.wustl.edu 36 1 45583360 45583360 + Silent SNP G G C novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9cdb7821-fe43-46cd-94f3-b9d68b9ce21f 10ce2c8a-a622-4457-9b5e-e464b260270a 1 45583360 45583360 G C SNP TESK2 NM_007170 human genbank 54_36p -1 reviewed silent c.1455 p.R485 0.98 NULL - - no_errors SYCE1 93426 genome.wustl.edu 36 10 135219322 135219322 + Missense_Mutation SNP G T T novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 G G T T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9cdb7821-fe43-46cd-94f3-b9d68b9ce21f 10ce2c8a-a622-4457-9b5e-e464b260270a 10 135219322 135219322 G T SNP SYCE1 NM_130784 human genbank 54_36p -1 validated missense c.563 p.T188N NULL - - no_errors C10orf140 387640 genome.wustl.edu 36 10 21844172 21844172 + Silent SNP C C A novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9cdb7821-fe43-46cd-94f3-b9d68b9ce21f 10ce2c8a-a622-4457-9b5e-e464b260270a 10 21844172 21844172 C A SNP C10orf140 NM_207371 human genbank 54_36p -1 validated silent c.2586 p.G862 1 NULL - - no_errors KIAA1217 56243 genome.wustl.edu 36 10 24802216 24802216 + Silent SNP C C T novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9cdb7821-fe43-46cd-94f3-b9d68b9ce21f 10ce2c8a-a622-4457-9b5e-e464b260270a 10 24802216 24802216 C T SNP KIAA1217 NM_019590 human genbank 54_36p 1 validated silent c.900 p.P300 0.23 NULL - - no_errors ERCC6 2074 genome.wustl.edu 36 10 50378705 50378705 + Nonsense_Mutation SNP G G A novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9cdb7821-fe43-46cd-94f3-b9d68b9ce21f 10ce2c8a-a622-4457-9b5e-e464b260270a 10 50378705 50378705 G A SNP ERCC6 NM_000124 human genbank 54_36p -1 reviewed nonsense c.1570 p.Q524* 1 HMMPfam_SNF2_N "HMMPfam_SNF2_N;HMMPfam_Helicase_C;superfamily_""Winged helix"" DNA-binding domain;superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors CCDC15 80071 genome.wustl.edu 36 11 124362919 124362919 + Silent SNP C C G novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9cdb7821-fe43-46cd-94f3-b9d68b9ce21f 10ce2c8a-a622-4457-9b5e-e464b260270a 11 124362919 124362919 C G SNP CCDC15 NM_025004 human genbank 54_36p 1 validated silent c.1587 p.G529 0.05 NULL - - no_errors SOX6 55553 genome.wustl.edu 36 11 16296734 16296734 + Silent SNP T T G novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9cdb7821-fe43-46cd-94f3-b9d68b9ce21f 10ce2c8a-a622-4457-9b5e-e464b260270a 11 16296734 16296734 T G SNP SOX6 NM_033326 human genbank 54_36p -1 reviewed silent c.279 p.R93 1 NULL - - no_errors F2 2147 genome.wustl.edu 36 11 46704017 46704017 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9cdb7821-fe43-46cd-94f3-b9d68b9ce21f 10ce2c8a-a622-4457-9b5e-e464b260270a 11 46704017 46704017 C T SNP F2 NM_000506 human genbank 54_36p 1 reviewed missense c.592 p.R198C 0.016 NULL - - no_errors FAT3 120114 genome.wustl.edu 36 11 92172134 92172134 + Missense_Mutation SNP A A T novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9cdb7821-fe43-46cd-94f3-b9d68b9ce21f 10ce2c8a-a622-4457-9b5e-e464b260270a 11 92172134 92172134 A T SNP FAT3 NM_001008781 human genbank 54_36p 1 validated missense c.6307 p.I2103F 1 NULL - - no_errors CCDC60 160777 genome.wustl.edu 36 12 118401332 118401332 + Missense_Mutation SNP G A A novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9cdb7821-fe43-46cd-94f3-b9d68b9ce21f 10ce2c8a-a622-4457-9b5e-e464b260270a 12 118401332 118401332 G A SNP CCDC60 NM_178499 human genbank 54_36p 1 validated missense c.392 p.R131H 0.18 NULL - - no_errors POLE 5426 genome.wustl.edu 36 12 131711577 131711577 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9cdb7821-fe43-46cd-94f3-b9d68b9ce21f 10ce2c8a-a622-4457-9b5e-e464b260270a 12 131711577 131711577 G T SNP POLE NM_006231 human genbank 54_36p -1 validated missense c.6734 p.T2245N 1 NULL HMMPfam_DNA_pol_B_exo;HMMPfam_DNA_pol_B;superfamily_Ribonuclease H-like;HMMPfam_DUF1744;superfamily_DNA/RNA polymerases - no_errors ITPR2 3709 genome.wustl.edu 36 12 26646683 26646683 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9cdb7821-fe43-46cd-94f3-b9d68b9ce21f 10ce2c8a-a622-4457-9b5e-e464b260270a 12 26646683 26646683 G T SNP ITPR2 NM_002223 human genbank 54_36p -1 validated missense c.3565 p.L1189I 1 NULL - - no_errors ENSG00000214298 0 genome.wustl.edu 36 10 126845421 126845421 + Silent SNP G G T novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9cdb7821-fe43-46cd-94f3-b9d68b9ce21f 10ce2c8a-a622-4457-9b5e-e464b260270a 10 126845421 126845421 G T SNP ENSG00000214298 ENST00000398057 human ensembl 54_36p 1 known silent c.186 p.L62 1 NULL - - no_stop_codon KBTBD6 89890 genome.wustl.edu 36 13 40603167 40603167 + Missense_Mutation SNP A A C novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9cdb7821-fe43-46cd-94f3-b9d68b9ce21f 10ce2c8a-a622-4457-9b5e-e464b260270a 13 40603167 40603167 A C SNP KBTBD6 NM_152903 human genbank 54_36p -1 validated missense c.1481 p.M494R 1 NULL HMMPfam_Kelch_1;superfamily_Galactose oxidase central domain;HMMPfam_BACK;HMMPfam_BTB;superfamily_POZ domain - no_errors HTR2A 3356 genome.wustl.edu 36 13 46364583 46364583 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9cdb7821-fe43-46cd-94f3-b9d68b9ce21f 10ce2c8a-a622-4457-9b5e-e464b260270a 13 46364583 46364583 A G SNP HTR2A NM_000621 human genbank 54_36p -1 validated missense c.556 p.F186L 1 HMMPfam_7tm_1 HMMPfam_7tm_1;superfamily_Family A G protein-coupled receptor-like - no_errors MED4 29079 genome.wustl.edu 36 13 47562502 47562502 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9cdb7821-fe43-46cd-94f3-b9d68b9ce21f 10ce2c8a-a622-4457-9b5e-e464b260270a 13 47562502 47562502 C A SNP MED4 NM_014166 human genbank 54_36p -1 provisional missense c.179 p.G60V 1 NULL - - no_errors C14orf93 60686 genome.wustl.edu 36 14 22535179 22535179 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9cdb7821-fe43-46cd-94f3-b9d68b9ce21f 10ce2c8a-a622-4457-9b5e-e464b260270a 14 22535179 22535179 G C SNP C14orf93 NM_021944 human genbank 54_36p -1 validated missense c.736 p.L246V 1 NULL - - no_errors LOC646139 646139 genome.wustl.edu 36 15 18981653 18981653 + RNA SNP C C A novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9cdb7821-fe43-46cd-94f3-b9d68b9ce21f 10ce2c8a-a622-4457-9b5e-e464b260270a 15 18981653 18981653 C A SNP LOC646139 XR_037550 human genbank 54_36p 1 model rna NULL NULL 1 - - - pseudogene SHF 90525 genome.wustl.edu 36 15 43251793 43251793 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9cdb7821-fe43-46cd-94f3-b9d68b9ce21f 10ce2c8a-a622-4457-9b5e-e464b260270a 15 43251793 43251793 G T SNP SHF NM_138356 human genbank 54_36p -1 validated missense c.809 p.P270Q 0.99 NULL - - no_errors LOC729217 729217 genome.wustl.edu 36 16 62851823 62851823 + RNA SNP G G A novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9cdb7821-fe43-46cd-94f3-b9d68b9ce21f 10ce2c8a-a622-4457-9b5e-e464b260270a 16 62851823 62851823 G A SNP LOC729217 XR_015483 human genbank 54_36p -1 model rna NULL NULL 0.02 - - - pseudogene HOXB1 3211 genome.wustl.edu 36 17 43963034 43963034 + Missense_Mutation SNP T T A novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9cdb7821-fe43-46cd-94f3-b9d68b9ce21f 10ce2c8a-a622-4457-9b5e-e464b260270a 17 43963034 43963034 T A SNP HOXB1 NM_002144 human genbank 54_36p -1 reviewed missense c.232 p.S78C 0.82 NULL HMMPfam_Homeobox;superfamily_Homeodomain-like - no_errors CA4 762 genome.wustl.edu 36 17 55590489 55590490 + Missense_Mutation DNP GG GG TC novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 GG GG GG TC GG GG Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9cdb7821-fe43-46cd-94f3-b9d68b9ce21f 10ce2c8a-a622-4457-9b5e-e464b260270a 17 55590489 55590490 GG TC DNP CA4 NM_000717 human genbank 54_36p 1 reviewed missense c.644_645 p.R215I 0.001:0.002 HMMPfam_Carb_anhydrase HMMPfam_Carb_anhydrase;superfamily_Carbonic anhydrase - no_errors ABCA6 23460 genome.wustl.edu 36 17 64588876 64588876 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9cdb7821-fe43-46cd-94f3-b9d68b9ce21f 10ce2c8a-a622-4457-9b5e-e464b260270a 17 64588876 64588876 G T SNP ABCA6 NM_080284 human genbank 54_36p -1 reviewed missense c.4622 p.S1541Y 0.75 NULL HMMPfam_ABC_tran;superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors TP53 7157 genome.wustl.edu 36 17 7518990 7518990 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9cdb7821-fe43-46cd-94f3-b9d68b9ce21f 10ce2c8a-a622-4457-9b5e-e464b260270a 17 7518990 7518990 A G SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.584 p.I195T 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 ZNF799 90576 genome.wustl.edu 36 19 12363419 12363419 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9cdb7821-fe43-46cd-94f3-b9d68b9ce21f 10ce2c8a-a622-4457-9b5e-e464b260270a 19 12363419 12363419 A G SNP ZNF799 NM_001080821 human genbank 54_36p -1 validated missense c.793 p.Y265H NULL - - no_errors COX6B1 1340 genome.wustl.edu 36 19 40831626 40831626 + Nonsense_Mutation SNP C C T novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9cdb7821-fe43-46cd-94f3-b9d68b9ce21f 10ce2c8a-a622-4457-9b5e-e464b260270a 19 40831626 40831626 C T SNP COX6B1 ENST00000392201 human ensembl 54_36p 1 known nonsense c.16 p.Q6* NULL - - no_errors LOC442041 442041 genome.wustl.edu 36 2 110554118 110554118 + RNA SNP C C A novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9cdb7821-fe43-46cd-94f3-b9d68b9ce21f 10ce2c8a-a622-4457-9b5e-e464b260270a 2 110554118 110554118 C A SNP LOC442041 XR_016876 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene BOLL 66037 genome.wustl.edu 36 2 198354767 198354767 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9cdb7821-fe43-46cd-94f3-b9d68b9ce21f 10ce2c8a-a622-4457-9b5e-e464b260270a 2 198354767 198354767 A G SNP BOLL NM_197970 human genbank 54_36p -1 validated missense c.89 p.L30S 1 NULL - - no_errors SDC1 6382 genome.wustl.edu 36 2 20267218 20267218 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9cdb7821-fe43-46cd-94f3-b9d68b9ce21f 10ce2c8a-a622-4457-9b5e-e464b260270a 2 20267218 20267218 C A SNP SDC1 NM_001006946 human genbank 54_36p -1 reviewed missense c.464 p.R155M 0.06 HMMPfam_Syndecan HMMPfam_Syndecan - no_errors TRPM8 79054 genome.wustl.edu 36 2 234527354 234527355 + Missense_Mutation DNP GC GC AT novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 GC GC GC AT GC GC Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9cdb7821-fe43-46cd-94f3-b9d68b9ce21f 10ce2c8a-a622-4457-9b5e-e464b260270a 2 234527354 234527355 GC AT DNP TRPM8 NM_024080 human genbank 54_36p 1 validated missense c.1195_1196 p.A399I 1.000:1.000 NULL - - no_errors HEATR5B 54497 genome.wustl.edu 36 2 37069351 37069351 + Silent SNP C C T novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9cdb7821-fe43-46cd-94f3-b9d68b9ce21f 10ce2c8a-a622-4457-9b5e-e464b260270a 2 37069351 37069351 C T SNP HEATR5B NM_019024 human genbank 54_36p -1 validated silent c.5853 p.A1951 0.96 NULL - - no_errors PTPRT 11122 genome.wustl.edu 36 20 40147880 40147880 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9cdb7821-fe43-46cd-94f3-b9d68b9ce21f 10ce2c8a-a622-4457-9b5e-e464b260270a 20 40147880 40147880 T C SNP PTPRT NM_133170 human genbank 54_36p -1 reviewed missense c.3931 p.T1311A 1 NULL - - no_errors SLCO4A1 28231 genome.wustl.edu 36 20 60762296 60762296 + Silent SNP C C T novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9cdb7821-fe43-46cd-94f3-b9d68b9ce21f 10ce2c8a-a622-4457-9b5e-e464b260270a 20 60762296 60762296 C T SNP SLCO4A1 NM_016354 human genbank 54_36p 1 validated silent c.975 p.A325 0.03 NULL - - no_errors C21orf7 56911 genome.wustl.edu 36 21 29454222 29454222 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9cdb7821-fe43-46cd-94f3-b9d68b9ce21f 10ce2c8a-a622-4457-9b5e-e464b260270a 21 29454222 29454222 G C SNP C21orf7 NM_020152 human genbank 54_36p 1 provisional missense c.522 p.K174N 1 NULL - - no_errors CECR2 27443 genome.wustl.edu 36 22 16396909 16396909 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9cdb7821-fe43-46cd-94f3-b9d68b9ce21f 10ce2c8a-a622-4457-9b5e-e464b260270a 22 16396909 16396909 A G SNP CECR2 ENST00000400585 human ensembl 54_36p 1 known missense c.1160 p.K387R 0.56 NULL - - no_errors UPB1 51733 genome.wustl.edu 36 22 23249597 23249597 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9cdb7821-fe43-46cd-94f3-b9d68b9ce21f 10ce2c8a-a622-4457-9b5e-e464b260270a 22 23249597 23249597 C G SNP UPB1 NM_016327 human genbank 54_36p 1 reviewed missense c.927 p.D309E 1 NULL HMMPfam_CN_hydrolase;superfamily_Carbon-nitrogen hydrolase - no_errors ALCAM 214 genome.wustl.edu 36 3 106751664 106751664 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9cdb7821-fe43-46cd-94f3-b9d68b9ce21f 10ce2c8a-a622-4457-9b5e-e464b260270a 3 106751664 106751664 G C SNP ALCAM NM_001627 human genbank 54_36p 1 validated missense c.1378 p.E460Q 1 NULL HMMPfam_ig;HMMPfam_C2-set_2;superfamily_Immunoglobulin - no_errors RYK 6259 genome.wustl.edu 36 3 135390442 135390442 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9cdb7821-fe43-46cd-94f3-b9d68b9ce21f 10ce2c8a-a622-4457-9b5e-e464b260270a 3 135390442 135390442 A G SNP RYK ENST00000296084 human ensembl 54_36p -1 known missense c.1034 p.I345T 1 HMMPfam_Pkinase_Tyr Pkinase_Tyr;HMMPfam_Pkinase_Tyr;WIF;HMMPfam_WIF - no_start_codon PDCD6IP 10015 genome.wustl.edu 36 3 33869100 33869100 + Silent SNP A A T novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9cdb7821-fe43-46cd-94f3-b9d68b9ce21f 10ce2c8a-a622-4457-9b5e-e464b260270a 3 33869100 33869100 A T SNP PDCD6IP NM_013374 human genbank 54_36p 1 reviewed silent c.1758 p.T586 1 NULL - - no_errors ALAS1 211 genome.wustl.edu 36 3 52215027 52215027 + Silent SNP G G C novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9cdb7821-fe43-46cd-94f3-b9d68b9ce21f 10ce2c8a-a622-4457-9b5e-e464b260270a 3 52215027 52215027 G C SNP ALAS1 NM_000688 human genbank 54_36p 1 validated silent c.933 p.S311 0.73 HMMPfam_Aminotran_1_2 HMMPfam_Aminotran_1_2;superfamily_PLP-dependent transferases - no_errors SLC25A4 291 genome.wustl.edu 36 4 186303363 186303363 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9cdb7821-fe43-46cd-94f3-b9d68b9ce21f 10ce2c8a-a622-4457-9b5e-e464b260270a 4 186303363 186303363 G A SNP SLC25A4 NM_001151 human genbank 54_36p 1 validated missense c.563 p.R188K 1 NULL - - no_errors MMRN1 22915 genome.wustl.edu 36 4 91035171 91035171 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9cdb7821-fe43-46cd-94f3-b9d68b9ce21f 10ce2c8a-a622-4457-9b5e-e464b260270a 4 91035171 91035171 T C SNP MMRN1 NM_007351 human genbank 54_36p 1 reviewed missense c.26 p.L9P 0.57 NULL - - no_errors SEMA6A 57556 genome.wustl.edu 36 5 115868492 115868492 + Silent SNP A A C novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9cdb7821-fe43-46cd-94f3-b9d68b9ce21f 10ce2c8a-a622-4457-9b5e-e464b260270a 5 115868492 115868492 A C SNP SEMA6A NM_020796 human genbank 54_36p -1 validated silent c.48 p.A16 1 NULL HMMPfam_Sema;superfamily_Sema domain;HMMPfam_PSI;superfamily_Plexin repeat - no_errors TCOF1 6949 genome.wustl.edu 36 5 149751776 149751776 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9cdb7821-fe43-46cd-94f3-b9d68b9ce21f 10ce2c8a-a622-4457-9b5e-e464b260270a 5 149751776 149751776 G A SNP TCOF1 NM_001008656 human genbank 54_36p 1 reviewed missense c.3247 p.G1083R NULL - - no_errors ENSG00000204989 0 genome.wustl.edu 36 11 59016003 59016003 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9cdb7821-fe43-46cd-94f3-b9d68b9ce21f 10ce2c8a-a622-4457-9b5e-e464b260270a 11 59016003 59016003 G A SNP ENSG00000204989 ENST00000378245 human ensembl 54_36p 1 known missense c.198 p.M66I 0.6 NULL HMMPfam_7tm_1;superfamily_SSF81321 - no_errors HIVEP2 3097 genome.wustl.edu 36 6 143137099 143137099 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9cdb7821-fe43-46cd-94f3-b9d68b9ce21f 10ce2c8a-a622-4457-9b5e-e464b260270a 6 143137099 143137099 C T SNP HIVEP2 NM_006734 human genbank 54_36p -1 provisional missense c.470 p.S157N 0.98 NULL - - no_errors SLC13A1 6561 genome.wustl.edu 36 7 122596533 122596533 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9cdb7821-fe43-46cd-94f3-b9d68b9ce21f 10ce2c8a-a622-4457-9b5e-e464b260270a 7 122596533 122596533 G A SNP SLC13A1 NM_022444 human genbank 54_36p -1 validated missense c.458 p.A153V 1 NULL - - no_errors BZW2 28969 genome.wustl.edu 36 7 16701010 16701021 + In_Frame_Del DEL TGTGGATCATTT TGTGGATCATTT - Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 TGTGGATCATTT TGTGGATCATTT TGTGGATCATTT - TGTGGATCATTT TGTGGATCATTT Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9cdb7821-fe43-46cd-94f3-b9d68b9ce21f 10ce2c8a-a622-4457-9b5e-e464b260270a 7 16701010 16701021 TGTGGATCATTT - DEL BZW2 NM_014038 human genbank 54_36p 1 provisional in_frame_del c.678_689 p.VDHF227in_frame_del 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.999:1.000:1.000 NULL - (deletion:cds_exon[16700984,16701154]) no_errors HOXA1 3198 genome.wustl.edu 36 7 27102010 27102010 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9cdb7821-fe43-46cd-94f3-b9d68b9ce21f 10ce2c8a-a622-4457-9b5e-e464b260270a 7 27102010 27102010 C G SNP HOXA1 NM_005522 human genbank 54_36p -1 reviewed missense c.47 p.S16T 1 NULL HMMPfam_Homeobox;superfamily_Homeodomain-like - no_errors CSMD3 114788 genome.wustl.edu 36 8 113574057 113574057 + Silent SNP G G T novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9cdb7821-fe43-46cd-94f3-b9d68b9ce21f 10ce2c8a-a622-4457-9b5e-e464b260270a 8 113574057 113574057 G T SNP CSMD3 NM_198123 human genbank 54_36p -1 validated silent c.5115 p.G1705 0.9 HMMPfam_Sushi HMMPfam_Sushi;HMMPfam_CUB;superfamily_Spermadhesin CUB domain;superfamily_Complement control module/SCR domain - no_errors TMEM71 137835 genome.wustl.edu 36 8 133833240 133833240 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9cdb7821-fe43-46cd-94f3-b9d68b9ce21f 10ce2c8a-a622-4457-9b5e-e464b260270a 8 133833240 133833240 C G SNP TMEM71 NM_144649 human genbank 54_36p -1 validated missense c.287 p.S96T 1 NULL - - no_errors ZNF16 7564 genome.wustl.edu 36 8 146128673 146128673 + Nonsense_Mutation SNP G G A novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9cdb7821-fe43-46cd-94f3-b9d68b9ce21f 10ce2c8a-a622-4457-9b5e-e464b260270a 8 146128673 146128673 G A SNP ZNF16 NM_001029976 human genbank 54_36p -1 reviewed nonsense c.304 p.Q102* 0.02 NULL - - no_errors CEP110 11064 genome.wustl.edu 36 9 122971763 122971763 + Silent SNP T T C novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9cdb7821-fe43-46cd-94f3-b9d68b9ce21f 10ce2c8a-a622-4457-9b5e-e464b260270a 9 122971763 122971763 T C SNP CEP110 NM_007018 human genbank 54_36p 1 reviewed silent c.6124 p.L2042 NULL HMMPfam_LRR_1;superfamily_Prefoldin;superfamily_tRNA-binding arm;superfamily_TPR-like;superfamily_L domain-like;superfamily_H-NS histone-like proteins - no_errors RABGAP1 23637 genome.wustl.edu 36 9 124786770 124786770 + Silent SNP A A C novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9cdb7821-fe43-46cd-94f3-b9d68b9ce21f 10ce2c8a-a622-4457-9b5e-e464b260270a 9 124786770 124786770 A C SNP RABGAP1 NM_012197 human genbank 54_36p 1 validated silent c.120 p.V40 1 NULL - - no_errors KIAA0020 9933 genome.wustl.edu 36 9 2821319 2821319 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9cdb7821-fe43-46cd-94f3-b9d68b9ce21f 10ce2c8a-a622-4457-9b5e-e464b260270a 9 2821319 2821319 C G SNP KIAA0020 NM_014878 human genbank 54_36p -1 validated missense c.542 p.R181P 0.99 NULL - - no_errors UBAP2 55833 genome.wustl.edu 36 9 33976812 33976812 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9cdb7821-fe43-46cd-94f3-b9d68b9ce21f 10ce2c8a-a622-4457-9b5e-e464b260270a 9 33976812 33976812 C G SNP UBAP2 NM_018449 human genbank 54_36p -1 reviewed missense c.466 p.D156H 1 NULL HMMPfam_UBA;superfamily_UBA-like - no_errors SLC28A3 64078 genome.wustl.edu 36 9 86090263 86090263 + Silent SNP G G A novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9cdb7821-fe43-46cd-94f3-b9d68b9ce21f 10ce2c8a-a622-4457-9b5e-e464b260270a 9 86090263 86090263 G A SNP SLC28A3 NM_022127 human genbank 54_36p -1 provisional silent c.1464 p.Y488 1 NULL - - no_errors GPR112 139378 genome.wustl.edu 36 X 135256374 135256374 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9cdb7821-fe43-46cd-94f3-b9d68b9ce21f 10ce2c8a-a622-4457-9b5e-e464b260270a X 135256374 135256374 G A SNP GPR112 NM_153834 human genbank 54_36p 1 validated missense c.2843 p.G948E NULL HMMPfam_GPS;HMMPfam_7tm_2;superfamily_Concanavalin A-like lectins/glucanases;superfamily_Family A G protein-coupled receptor-like - no_errors LOC728748 728748 genome.wustl.edu 36 X 73536032 73536032 + RNA SNP T T C novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9cdb7821-fe43-46cd-94f3-b9d68b9ce21f 10ce2c8a-a622-4457-9b5e-e464b260270a X 73536032 73536032 T C SNP LOC728748 XR_037583 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene