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 KCNT2 343450 genome.wustl.edu 36 1 194562493 194562493 + Silent SNP G G A novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b266a007-694a-4580-ad67-48b0f709bc43 6826e606-44fb-4cc0-9f41-4c60797abbe1 1 194562493 194562493 G A SNP KCNT2 NM_198503 human genbank 54_36p -1 validated silent c.2253 p.P751 1 NULL - - no_errors EIF2C1 26523 genome.wustl.edu 36 1 36140456 36140456 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b266a007-694a-4580-ad67-48b0f709bc43 6826e606-44fb-4cc0-9f41-4c60797abbe1 1 36140456 36140456 G T SNP EIF2C1 NM_012199 human genbank 54_36p 1 reviewed missense c.1328 p.G443V 1 NULL - - no_errors LOXL4 84171 genome.wustl.edu 36 10 100001368 100001368 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b266a007-694a-4580-ad67-48b0f709bc43 6826e606-44fb-4cc0-9f41-4c60797abbe1 10 100001368 100001368 A G SNP LOXL4 NM_032211 human genbank 54_36p -1 reviewed missense c.2033 p.I678T 1 HMMPfam_Lysyl_oxidase HMMPfam_SRCR;superfamily_SRCR-like;HMMPfam_Lysyl_oxidase - no_errors MKI67 4288 genome.wustl.edu 36 10 129795130 129795130 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b266a007-694a-4580-ad67-48b0f709bc43 6826e606-44fb-4cc0-9f41-4c60797abbe1 10 129795130 129795130 G A SNP MKI67 NM_002417 human genbank 54_36p -1 reviewed missense c.4964 p.T1655I HMMPfam_K167R HMMPfam_FHA;superfamily_SMAD/FHA domain;HMMPfam_K167R - no_errors RAB40AL 282808 genome.wustl.edu 36 X 102079111 102079111 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b266a007-694a-4580-ad67-48b0f709bc43 6826e606-44fb-4cc0-9f41-4c60797abbe1 X 102079111 102079111 C T SNP RAB40AL NM_001031834 human genbank 54_36p 1 provisional missense c.209 p.T70M 1 NULL - - no_errors RAB40AL 282808 genome.wustl.edu 36 X 102079112 102079112 + Silent SNP G G T novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b266a007-694a-4580-ad67-48b0f709bc43 6826e606-44fb-4cc0-9f41-4c60797abbe1 X 102079112 102079112 G T SNP RAB40AL NM_001031834 human genbank 54_36p 1 provisional silent c.210 p.T70 0.99 NULL - - no_errors PTPN5 84867 genome.wustl.edu 36 11 18716018 18716018 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b266a007-694a-4580-ad67-48b0f709bc43 6826e606-44fb-4cc0-9f41-4c60797abbe1 11 18716018 18716018 T C SNP PTPN5 NM_006906 human genbank 54_36p -1 validated missense c.985 p.K329E 1 HMMPfam_Y_phosphatase HMMPfam_Y_phosphatase;superfamily_(Phosphotyrosine protein) phosphatases II - no_errors CAT 847 genome.wustl.edu 36 11 34427407 34427407 + Silent SNP G G A Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b266a007-694a-4580-ad67-48b0f709bc43 6826e606-44fb-4cc0-9f41-4c60797abbe1 11 34427407 34427407 G A SNP CAT NM_001752 human genbank 54_36p 1 validated silent c.159 p.Q53 1 HMMPfam_Catalase HMMPfam_Catalase,superfamily_Heme-dependent catalases - no_errors STX3 6809 genome.wustl.edu 36 11 59317198 59317198 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b266a007-694a-4580-ad67-48b0f709bc43 6826e606-44fb-4cc0-9f41-4c60797abbe1 11 59317198 59317198 A G SNP STX3 NM_004177 human genbank 54_36p 1 provisional missense c.517 p.N173D 1 NULL - - no_errors BATF2 116071 genome.wustl.edu 36 11 64513696 64513696 + Silent SNP C C T novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b266a007-694a-4580-ad67-48b0f709bc43 6826e606-44fb-4cc0-9f41-4c60797abbe1 11 64513696 64513696 C T SNP BATF2 NM_138456 human genbank 54_36p -1 validated silent c.306 p.Q102 0.03 NULL - - no_errors MALAT1 378938 genome.wustl.edu 36 11 65026678 65026678 + RNA SNP C C T novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b266a007-694a-4580-ad67-48b0f709bc43 6826e606-44fb-4cc0-9f41-4c60797abbe1 11 65026678 65026678 C T SNP MALAT1 NR_002819 human genbank 54_36p 1 provisional rna NULL NULL 1 - - - no_errors FAT3 120114 genome.wustl.edu 36 11 92239912 92239912 + Missense_Mutation SNP G G A Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b266a007-694a-4580-ad67-48b0f709bc43 6826e606-44fb-4cc0-9f41-4c60797abbe1 11 92239912 92239912 G A SNP FAT3 NM_001008781 human genbank 54_36p 1 validated missense c.12016 p.A4006T 1 NULL - - no_errors LRRK2 120892 genome.wustl.edu 36 12 38985923 38985923 + Missense_Mutation SNP T T A Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 T T T A T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b266a007-694a-4580-ad67-48b0f709bc43 6826e606-44fb-4cc0-9f41-4c60797abbe1 12 38985923 38985923 T A SNP LRRK2 NM_198578 human genbank 54_36p 1 reviewed missense c.3847 p.S1283T 1 HMMPfam_LRR_1 HMMPfam_Pkinase,superfamily_Ankyrin repeat,superfamily_Protein kinase-like (PK-like),superfamily_WD40 repeat-like,superfamily_ARM repeat,superfamily_L domain-like,superfamily_P-loop containing nucleoside triphosphate hydrolases,Pkinase,LRR_1,HMMPfam_LRR_1,LRR_2,HMMPfam_LRR_2,Miro,HMMPfam_Miro - no_errors GLIPR1 11010 genome.wustl.edu 36 12 74170514 74170514 + Missense_Mutation SNP G G T Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 G G G T G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b266a007-694a-4580-ad67-48b0f709bc43 6826e606-44fb-4cc0-9f41-4c60797abbe1 12 74170514 74170514 G T SNP GLIPR1 NM_006851 human genbank 54_36p 1 reviewed missense c.482 p.G161V 0.022 NULL - - no_errors NR2C1 7181 genome.wustl.edu 36 12 93969683 93969683 + Silent SNP G G A novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b266a007-694a-4580-ad67-48b0f709bc43 6826e606-44fb-4cc0-9f41-4c60797abbe1 12 93969683 93969683 G A SNP NR2C1 NM_003297 human genbank 54_36p -1 reviewed silent c.951 p.N317 0.33 NULL HMMPfam_Hormone_recep;HMMPfam_zf-C4;superfamily_Nuclear receptor ligand-binding domain;superfamily_Glucocorticoid receptor-like (DNA-binding domain) - no_errors ELK3 2004 genome.wustl.edu 36 12 95164924 95164924 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b266a007-694a-4580-ad67-48b0f709bc43 6826e606-44fb-4cc0-9f41-4c60797abbe1 12 95164924 95164924 C G SNP ELK3 NM_005230 human genbank 54_36p 1 reviewed missense c.283 p.P95A 1 NULL - - no_errors DHRS4 10901 genome.wustl.edu 36 14 23494095 23494095 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b266a007-694a-4580-ad67-48b0f709bc43 6826e606-44fb-4cc0-9f41-4c60797abbe1 14 23494095 23494095 C T SNP DHRS4 NM_021004 human genbank 54_36p 1 validated missense c.140 p.A47V 1 NULL - - no_errors SNW1 22938 genome.wustl.edu 36 14 77273125 77273125 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b266a007-694a-4580-ad67-48b0f709bc43 6826e606-44fb-4cc0-9f41-4c60797abbe1 14 77273125 77273125 G C SNP SNW1 NM_012245 human genbank 54_36p -1 reviewed missense c.580 p.Q194E 1 HMMPfam_SKIP_SNW HMMPfam_SKIP_SNW;superfamily_Domain of the SRP/SRP receptor G-proteins - no_errors SCAMP2 10066 genome.wustl.edu 36 15 72928000 72928000 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b266a007-694a-4580-ad67-48b0f709bc43 6826e606-44fb-4cc0-9f41-4c60797abbe1 15 72928000 72928000 C G SNP SCAMP2 NM_005697 human genbank 54_36p -1 reviewed missense c.728 p.G243A 1 HMMPfam_SCAMP HMMPfam_SCAMP - no_errors WDR93 56964 genome.wustl.edu 36 15 88071457 88071457 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b266a007-694a-4580-ad67-48b0f709bc43 6826e606-44fb-4cc0-9f41-4c60797abbe1 15 88071457 88071457 G A SNP WDR93 NM_020212 human genbank 54_36p 1 provisional missense c.946 p.G316R 0.98 NULL - - no_errors IFT140 9742 genome.wustl.edu 36 16 1582488 1582488 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b266a007-694a-4580-ad67-48b0f709bc43 6826e606-44fb-4cc0-9f41-4c60797abbe1 16 1582488 1582488 G A SNP IFT140 NM_014714 human genbank 54_36p -1 validated missense c.472 p.R158W 1 NULL - - no_errors SETD6 79918 genome.wustl.edu 36 16 57109887 57109887 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b266a007-694a-4580-ad67-48b0f709bc43 6826e606-44fb-4cc0-9f41-4c60797abbe1 16 57109887 57109887 G A SNP SETD6 NM_024860 human genbank 54_36p 1 provisional missense c.983 p.G328E 1 NULL - - no_errors MYH3 4621 genome.wustl.edu 36 17 10486645 10486645 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b266a007-694a-4580-ad67-48b0f709bc43 6826e606-44fb-4cc0-9f41-4c60797abbe1 17 10486645 10486645 T C SNP MYH3 NM_002470 human genbank 54_36p -1 reviewed missense c.1702 p.K568E 1 HMMPfam_Myosin_head HMMPfam_IQ;HMMPfam_Myosin_head;HMMPfam_Myosin_tail_1;HMMPfam_Myosin_N;superfamily_Prefoldin;superfamily_Spectrin repeat;superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors PIP4K2B 8396 genome.wustl.edu 36 17 34190269 34190269 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b266a007-694a-4580-ad67-48b0f709bc43 6826e606-44fb-4cc0-9f41-4c60797abbe1 17 34190269 34190269 C A SNP PIP4K2B NM_003559 human genbank 54_36p -1 reviewed missense c.469 p.V157L 1 NULL - - no_errors KLHL10 317719 genome.wustl.edu 36 17 37255021 37255021 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b266a007-694a-4580-ad67-48b0f709bc43 6826e606-44fb-4cc0-9f41-4c60797abbe1 17 37255021 37255021 G C SNP KLHL10 NM_152467 human genbank 54_36p 1 validated missense c.802 p.D268H 1 NULL HMMPfam_Kelch_1;superfamily_Galactose oxidase central domain;HMMPfam_BACK;HMMPfam_BTB;superfamily_POZ domain - no_errors ZNF594 84622 genome.wustl.edu 36 17 5026482 5026482 + Silent SNP G G A novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b266a007-694a-4580-ad67-48b0f709bc43 6826e606-44fb-4cc0-9f41-4c60797abbe1 17 5026482 5026482 G A SNP ZNF594 NM_032530 human genbank 54_36p -1 validated silent c.1794 p.C598 0.05 NULL - - no_errors TP53 7157 genome.wustl.edu 36 17 7519251 7519251 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b266a007-694a-4580-ad67-48b0f709bc43 6826e606-44fb-4cc0-9f41-4c60797abbe1 17 7519251 7519251 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.404 p.C135Y 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 DSEL 92126 genome.wustl.edu 36 18 63331960 63331961 + Frame_Shift_Del DEL TG TG - novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 TG TG Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b266a007-694a-4580-ad67-48b0f709bc43 6826e606-44fb-4cc0-9f41-4c60797abbe1 18 63331960 63331961 TG - DEL DSEL NM_032160 human genbank 54_36p -1 validated frame_shift_del c.896_895 p.Q299fs 1.000:1.000 NULL superfamily_P-loop containing nucleoside triphosphate hydrolases (deletion:cds_exon[63329187;63332855]) no_errors UNC13A 23025 genome.wustl.edu 36 19 17604933 17604933 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b266a007-694a-4580-ad67-48b0f709bc43 6826e606-44fb-4cc0-9f41-4c60797abbe1 19 17604933 17604933 C T SNP UNC13A NM_001080421 human genbank 54_36p -1 provisional missense c.3549 p.M1183I 1 NULL - - no_errors SCN1A 6323 genome.wustl.edu 36 2 166557083 166557083 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b266a007-694a-4580-ad67-48b0f709bc43 6826e606-44fb-4cc0-9f41-4c60797abbe1 2 166557083 166557083 T A SNP SCN1A NM_006920 human genbank 54_36p -1 validated missense c.4915 p.I1639F 1 HMMPfam_Ion_trans HMMPfam_IQ;HMMPfam_Ion_trans;HMMPfam_Na_trans_assoc;superfamily_EF-hand;superfamily_Voltage-gated potassium channels - no_errors TTN 7273 genome.wustl.edu 36 2 179300650 179300650 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b266a007-694a-4580-ad67-48b0f709bc43 6826e606-44fb-4cc0-9f41-4c60797abbe1 2 179300650 179300650 A C SNP TTN NM_133378 human genbank 54_36p -1 reviewed missense c.16168 p.Y5390D 1 NULL - - pseudogene:no_stop_codon:bad_bp_length_for_coding_region TTN 7273 genome.wustl.edu 36 2 179300652 179300652 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b266a007-694a-4580-ad67-48b0f709bc43 6826e606-44fb-4cc0-9f41-4c60797abbe1 2 179300652 179300652 A C SNP TTN NM_133378 human genbank 54_36p -1 reviewed missense c.16166 p.L5389R 1 NULL - - pseudogene:no_stop_codon:bad_bp_length_for_coding_region PREPL 9581 genome.wustl.edu 36 2 44402469 44402469 + Splice_Site SNP C C A novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b266a007-694a-4580-ad67-48b0f709bc43 6826e606-44fb-4cc0-9f41-4c60797abbe1 2 44402469 44402469 C A SNP PREPL NM_006036 human genbank 54_36p -1 validated splice_site c.2094+1 e13+1 1 - - - no_errors CRNKL1 51340 genome.wustl.edu 36 20 19970259 19970259 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b266a007-694a-4580-ad67-48b0f709bc43 6826e606-44fb-4cc0-9f41-4c60797abbe1 20 19970259 19970259 C T SNP CRNKL1 NM_016652 human genbank 54_36p -1 reviewed missense c.1658 p.R553K 1 HMMPfam_HAT HMMPfam_HAT;superfamily_TPR-like - no_errors XKR7 343702 genome.wustl.edu 36 20 30048672 30048672 + Silent SNP C C T novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b266a007-694a-4580-ad67-48b0f709bc43 6826e606-44fb-4cc0-9f41-4c60797abbe1 20 30048672 30048672 C T SNP XKR7 NM_001011718 human genbank 54_36p 1 provisional silent c.1491 p.T497 0.63 NULL - - no_errors ATP9A 10079 genome.wustl.edu 36 20 49744045 49744045 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b266a007-694a-4580-ad67-48b0f709bc43 6826e606-44fb-4cc0-9f41-4c60797abbe1 20 49744045 49744045 G A SNP ATP9A NM_006045 human genbank 54_36p -1 validated missense c.551 p.S184L 1 NULL - - no_errors CHGB 1114 genome.wustl.edu 36 20 5852197 5852197 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b266a007-694a-4580-ad67-48b0f709bc43 6826e606-44fb-4cc0-9f41-4c60797abbe1 20 5852197 5852197 A T SNP CHGB NM_001819 human genbank 54_36p 1 reviewed missense c.1407 p.R469S 0.06 HMMPfam_Granin HMMPfam_Granin - no_errors USP25 29761 genome.wustl.edu 36 21 16172022 16172022 + Missense_Mutation SNP G G C Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 G G G C G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b266a007-694a-4580-ad67-48b0f709bc43 6826e606-44fb-4cc0-9f41-4c60797abbe1 21 16172022 16172022 G C SNP USP25 NM_013396 human genbank 54_36p 1 validated missense c.2836 p.G946R 1 NULL HMMPfam_UBA,HMMPfam_UCH,HMMPfam_UIM,superfamily_UBA-like,superfamily_Cysteine proteinases - no_errors C21orf57 54059 genome.wustl.edu 36 21 46535738 46535738 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b266a007-694a-4580-ad67-48b0f709bc43 6826e606-44fb-4cc0-9f41-4c60797abbe1 21 46535738 46535738 T G SNP C21orf57 NM_058181 human genbank 54_36p 1 validated missense c.273 p.I91M 0.99 NULL - - no_errors HMOX1 3162 genome.wustl.edu 36 22 34112809 34112809 + Silent SNP C C T novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b266a007-694a-4580-ad67-48b0f709bc43 6826e606-44fb-4cc0-9f41-4c60797abbe1 22 34112809 34112809 C T SNP HMOX1 NM_002133 human genbank 54_36p 1 reviewed silent c.276 p.D92 1 HMMPfam_Heme_oxygenase HMMPfam_Heme_oxygenase;superfamily_Heme oxygenase-like - no_errors ZPLD1 131368 genome.wustl.edu 36 3 103670511 103670511 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b266a007-694a-4580-ad67-48b0f709bc43 6826e606-44fb-4cc0-9f41-4c60797abbe1 3 103670511 103670511 C A SNP ZPLD1 NM_175056 human genbank 54_36p 1 provisional missense c.823 p.P275T 1 NULL - - no_errors ADPRH 141 genome.wustl.edu 36 3 120788176 120788176 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b266a007-694a-4580-ad67-48b0f709bc43 6826e606-44fb-4cc0-9f41-4c60797abbe1 3 120788176 120788176 A C SNP ADPRH NM_001125 human genbank 54_36p 1 reviewed missense c.653 p.Q218P 0.36 NULL - - no_errors PARP14 54625 genome.wustl.edu 36 3 123919723 123919723 + Silent SNP G G T novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b266a007-694a-4580-ad67-48b0f709bc43 6826e606-44fb-4cc0-9f41-4c60797abbe1 3 123919723 123919723 G T SNP PARP14 NM_017554 human genbank 54_36p 1 validated silent c.4116 p.L1372 0.99 NULL - - no_errors SLC2A2 6514 genome.wustl.edu 36 3 172207654 172207654 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b266a007-694a-4580-ad67-48b0f709bc43 6826e606-44fb-4cc0-9f41-4c60797abbe1 3 172207654 172207654 C T SNP SLC2A2 NM_000340 human genbank 54_36p -1 reviewed missense c.589 p.V197I 1 HMMPfam_Sugar_tr Sugar_tr;HMMPfam_Sugar_tr;MFS general substrate transporter;superfamily_MFS general substrate transporter - no_errors OSTalpha 200931 genome.wustl.edu 36 3 197443710 197443710 + Silent SNP A A C Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 A A A C A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b266a007-694a-4580-ad67-48b0f709bc43 6826e606-44fb-4cc0-9f41-4c60797abbe1 3 197443710 197443710 A C SNP OSTalpha NM_152672 human genbank 54_36p 1 validated silent c.804 p.L268 1 NULL - - no_errors CLASP2 23122 genome.wustl.edu 36 3 33661311 33661311 + Silent SNP G G A novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b266a007-694a-4580-ad67-48b0f709bc43 6826e606-44fb-4cc0-9f41-4c60797abbe1 3 33661311 33661311 G A SNP CLASP2 NM_015097 human genbank 54_36p -1 validated silent c.804 p.S268 1 NULL HMMPfam_HEAT;superfamily_ARM repeat - no_errors LRRFIP2 9209 genome.wustl.edu 36 3 37100239 37100239 + Silent SNP G G A novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b266a007-694a-4580-ad67-48b0f709bc43 6826e606-44fb-4cc0-9f41-4c60797abbe1 3 37100239 37100239 G A SNP LRRFIP2 NM_006309 human genbank 54_36p -1 validated silent c.1170 p.D390 1 NULL - - no_errors ZNF197 10168 genome.wustl.edu 36 3 44659624 44659624 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b266a007-694a-4580-ad67-48b0f709bc43 6826e606-44fb-4cc0-9f41-4c60797abbe1 3 44659624 44659624 T G SNP ZNF197 NM_006991 human genbank 54_36p 1 reviewed missense c.1998 p.I666M NULL - - no_errors ENAM 10117 genome.wustl.edu 36 4 71728831 71728831 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b266a007-694a-4580-ad67-48b0f709bc43 6826e606-44fb-4cc0-9f41-4c60797abbe1 4 71728831 71728831 C G SNP ENAM NM_031889 human genbank 54_36p 1 validated missense c.2824 p.Q942E 0.01 NULL - - no_errors LOC728843 728843 genome.wustl.edu 36 5 165388554 165388554 + RNA SNP C C T novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b266a007-694a-4580-ad67-48b0f709bc43 6826e606-44fb-4cc0-9f41-4c60797abbe1 5 165388554 165388554 C T SNP LOC728843 XR_015391 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene RANBP17 64901 genome.wustl.edu 36 5 170284047 170284047 + Silent SNP A A G novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b266a007-694a-4580-ad67-48b0f709bc43 6826e606-44fb-4cc0-9f41-4c60797abbe1 5 170284047 170284047 A G SNP RANBP17 NM_022897 human genbank 54_36p 1 provisional silent c.1356 p.E452 1 NULL HMMPfam_IBN_N;superfamily_ARM repeat - no_errors LOC100128619 100128619 genome.wustl.edu 36 5 172504181 172504181 + Missense_Mutation SNP C C T Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b266a007-694a-4580-ad67-48b0f709bc43 6826e606-44fb-4cc0-9f41-4c60797abbe1 5 172504181 172504181 C T SNP LOC100128619 XM_001720411 human genbank 54_36p -1 model missense c.49 p.D17N 1 NULL - - no_errors GPR98 84059 genome.wustl.edu 36 5 90060294 90060294 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b266a007-694a-4580-ad67-48b0f709bc43 6826e606-44fb-4cc0-9f41-4c60797abbe1 5 90060294 90060294 G C SNP GPR98 NM_032119 human genbank 54_36p 1 reviewed missense c.10214 p.R3405P 0.15 HMMPfam_EPTP HMMPfam_GPS;HMMPfam_Calx-beta;HMMPfam_EPTP;superfamily_Concanavalin A-like lectins/glucanases;superfamily_Phosphoglucomutase first 3 domains - no_errors ERAP1 51752 genome.wustl.edu 36 5 96147252 96147252 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b266a007-694a-4580-ad67-48b0f709bc43 6826e606-44fb-4cc0-9f41-4c60797abbe1 5 96147252 96147252 C T SNP ERAP1 NM_016442 human genbank 54_36p -1 validated missense c.1939 p.V647I 1 NULL - - no_errors CCR6 1235 genome.wustl.edu 36 6 167469736 167469736 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b266a007-694a-4580-ad67-48b0f709bc43 6826e606-44fb-4cc0-9f41-4c60797abbe1 6 167469736 167469736 G A SNP CCR6 NM_004367 human genbank 54_36p 1 reviewed missense c.28 p.D10N NULL HMMPfam_7tm_1;superfamily_Family A G protein-coupled receptor-like - no_errors SCGN 10590 genome.wustl.edu 36 6 25778216 25778216 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b266a007-694a-4580-ad67-48b0f709bc43 6826e606-44fb-4cc0-9f41-4c60797abbe1 6 25778216 25778216 G A SNP SCGN NM_006998 human genbank 54_36p 1 reviewed missense c.404 p.R135Q 1 HMMPfam_efhand HMMPfam_efhand;superfamily_EF-hand - no_errors HIST1H1C 3006 genome.wustl.edu 36 6 26163994 26163994 + Nonstop_Mutation SNP C C G Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 C C C G C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b266a007-694a-4580-ad67-48b0f709bc43 6826e606-44fb-4cc0-9f41-4c60797abbe1 6 26163994 26163994 C G SNP HIST1H1C NM_005319 human genbank 54_36p -1 reviewed nonstop c.642 p.*214Y 0.679 NULL - - no_errors HIST1H4H 8365 genome.wustl.edu 36 6 26393702 26393702 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b266a007-694a-4580-ad67-48b0f709bc43 6826e606-44fb-4cc0-9f41-4c60797abbe1 6 26393702 26393702 G C SNP HIST1H4H NM_003543 human genbank 54_36p -1 reviewed missense c.5 p.S2C 1 NULL - - no_errors NKAPL 222698 genome.wustl.edu 36 6 28335697 28335697 + Missense_Mutation SNP A A G Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 A A A G A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b266a007-694a-4580-ad67-48b0f709bc43 6826e606-44fb-4cc0-9f41-4c60797abbe1 6 28335697 28335697 A G SNP NKAPL NM_001007531 human genbank 54_36p 1 provisional missense c.569 p.K190R 1 NULL - - no_errors PPARD 5467 genome.wustl.edu 36 6 35500315 35500315 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b266a007-694a-4580-ad67-48b0f709bc43 6826e606-44fb-4cc0-9f41-4c60797abbe1 6 35500315 35500315 C T SNP PPARD NM_006238 human genbank 54_36p 1 reviewed missense c.859 p.H287Y 1 HMMPfam_Hormone_recep HMMPfam_Hormone_recep;HMMPfam_zf-C4;superfamily_Nuclear receptor ligand-binding domain;superfamily_Glucocorticoid receptor-like (DNA-binding domain) - no_errors STK38 11329 genome.wustl.edu 36 6 36574132 36574132 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b266a007-694a-4580-ad67-48b0f709bc43 6826e606-44fb-4cc0-9f41-4c60797abbe1 6 36574132 36574132 C A SNP STK38 NM_007271 human genbank 54_36p -1 provisional missense c.1062 p.K354N 1 HMMPfam_Pkinase HMMPfam_Pkinase;HMMPfam_Pkinase_C;superfamily_Protein kinase-like (PK-like) - no_errors SYNCRIP 10492 genome.wustl.edu 36 6 86381481 86381481 + Silent SNP A A C novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b266a007-694a-4580-ad67-48b0f709bc43 6826e606-44fb-4cc0-9f41-4c60797abbe1 6 86381481 86381481 A C SNP SYNCRIP NM_006372 human genbank 54_36p -1 provisional silent c.1584 p.G528 1 NULL - - no_errors GRM8 2918 genome.wustl.edu 36 7 125960745 125960745 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b266a007-694a-4580-ad67-48b0f709bc43 6826e606-44fb-4cc0-9f41-4c60797abbe1 7 125960745 125960745 G T SNP GRM8 NM_000845 human genbank 54_36p -1 reviewed missense c.1927 p.P643T 1 NULL - - no_errors GRM8 2918 genome.wustl.edu 36 7 125961007 125961007 + Silent SNP A A T novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b266a007-694a-4580-ad67-48b0f709bc43 6826e606-44fb-4cc0-9f41-4c60797abbe1 7 125961007 125961007 A T SNP GRM8 NM_000845 human genbank 54_36p -1 reviewed silent c.1665 p.L555 0.98 NULL - - no_errors AHCYL2 23382 genome.wustl.edu 36 7 128806799 128806799 + Nonsense_Mutation SNP C C T novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b266a007-694a-4580-ad67-48b0f709bc43 6826e606-44fb-4cc0-9f41-4c60797abbe1 7 128806799 128806799 C T SNP AHCYL2 NM_015328 human genbank 54_36p 1 validated nonsense c.448 p.Q150* 1 NULL - - no_errors MGAM 8972 genome.wustl.edu 36 7 141405774 141405774 + Silent SNP C C A novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b266a007-694a-4580-ad67-48b0f709bc43 6826e606-44fb-4cc0-9f41-4c60797abbe1 7 141405774 141405774 C A SNP MGAM NM_004668 human genbank 54_36p 1 reviewed silent c.3853 p.R1285 1 HMMPfam_Glyco_hydro_31 HMMPfam_Glyco_hydro_31,HMMPfam_Trefoil,superfamily_Trefoil,superfamily_(Trans)glycosidases - no_errors ELMO1 9844 genome.wustl.edu 36 7 37219579 37219579 + Silent SNP G G A novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b266a007-694a-4580-ad67-48b0f709bc43 6826e606-44fb-4cc0-9f41-4c60797abbe1 7 37219579 37219579 G A SNP ELMO1 NM_014800 human genbank 54_36p -1 reviewed silent c.840 p.I280 1 NULL - - no_errors CASD1 64921 genome.wustl.edu 36 7 94006277 94006277 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b266a007-694a-4580-ad67-48b0f709bc43 6826e606-44fb-4cc0-9f41-4c60797abbe1 7 94006277 94006277 G C SNP CASD1 NM_022900 human genbank 54_36p 1 validated missense c.1329 p.L443F 1 HMMPfam_Cas1p superfamily_Cyclin-like;HMMPfam_Cas1p - no_errors PRKDC 5591 genome.wustl.edu 36 8 48909312 48909312 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b266a007-694a-4580-ad67-48b0f709bc43 6826e606-44fb-4cc0-9f41-4c60797abbe1 8 48909312 48909312 T C SNP PRKDC ENST00000314191 human ensembl 54_36p -1 known missense c.8147 p.K2716R 1 NULL HEAT,HMMPfam_HEAT,PI3_PI4_kinase,HMMPfam_PI3_PI4_kinase,FAT,HMMPfam_FAT,FATC,HMMPfam_FATC,Protein kinase-like (PK-like),superfamily_Protein kinase-like (PK-like),NUC194,HMMPfam_NUC194,ARM repeat,superfamily_ARM repeat,TPR-like,superfamily_TPR-like - no_errors ELMOD3 84173 genome.wustl.edu 36 2 85452087 85452087 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b266a007-694a-4580-ad67-48b0f709bc43 6826e606-44fb-4cc0-9f41-4c60797abbe1 2 85452087 85452087 C G SNP ELMOD3 NM_032213 human genbank 54_36p 1 validated missense c.498 p.S166R 1 NULL - - no_errors C9orf174 100499483 genome.wustl.edu 36 9 99132707 99132707 + Nonsense_Mutation SNP T T G novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b266a007-694a-4580-ad67-48b0f709bc43 6826e606-44fb-4cc0-9f41-4c60797abbe1 9 99132707 99132707 T G SNP KIAA1529 NM_020893 human genbank 54_36p 1 predicted nonsense c.2660 p.L887* NULL - - no_errors ENOX2 10495 genome.wustl.edu 36 X 129599066 129599066 + Splice_Site SNP C C A novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b266a007-694a-4580-ad67-48b0f709bc43 6826e606-44fb-4cc0-9f41-4c60797abbe1 X 129599066 129599066 C A SNP ENOX2 NM_182314 human genbank 54_36p -1 reviewed splice_site c.1217-1 e9-1 0.99 - - - no_errors FMR1 2332 genome.wustl.edu 36 X 146817604 146817604 + Splice_Site SNP G G T novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b266a007-694a-4580-ad67-48b0f709bc43 6826e606-44fb-4cc0-9f41-4c60797abbe1 X 146817604 146817604 G T SNP FMR1 NM_002024 human genbank 54_36p 1 reviewed splice_site c.270+1 e4+1 1 - - - no_errors SPIN3 169981 genome.wustl.edu 36 X 57037963 57037963 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b266a007-694a-4580-ad67-48b0f709bc43 6826e606-44fb-4cc0-9f41-4c60797abbe1 X 57037963 57037963 T G SNP SPIN3 NM_001010862 human genbank 54_36p -1 validated missense c.143 p.N48T 1 NULL - - no_errors