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 NormalRefReads_WU NormalVarReads_WU NormalVAF_WU TumorRefReads_WU TumorVarReads_WU TumorVAF_WU RNARefReads_WU RNAVarReads_WU RNAVAF_WU LOC100129876 0 genome.wustl.edu 36 X 55215216 55215216 + Silent SNP G G A TCGA-AB-3002-03A-01D-0739-09 TCGA-AB-3002-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 320ebe6f-48bd-40f1-9be5-1401a3bff328 f0b052b2-f9c8-48b4-a333-936b3da6f164 X 55215216 55215216 G A SNP LOC100129876 XM_001715675.1 human genbank 54_36p +1 model silent c.105 p.E35 0.007 NULL HMMPfam_GAGE - no_errors 238 3 1.24 21 146 87.43 NA NA NA RBMX 0 genome.wustl.edu 36 X 135789240 135789240 + Missense_Mutation SNP C C A TCGA-AB-3002-03A-01D-0739-09 TCGA-AB-3002-11A-01D-0739-09 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 320ebe6f-48bd-40f1-9be5-1401a3bff328 f0b052b2-f9c8-48b4-a333-936b3da6f164 X 135789240 135789240 C A SNP RBMX NM_002139.2 human genbank 54_36p -1 reviewed missense c.13 p.D5Y 1.000 NULL HMMPfam_RRM_1,HMMSmart_SM00360,HMMSmart_SM00361,HMMPfam_RBM1CTR,superfamily_RNA-binding domain RBD - no_errors 284 8 2.73972602739726 37 240 86.6425992779783 8 143 94.08 TP73 0 genome.wustl.edu 36 1 3628599 3628599 + Missense_Mutation SNP C C T TCGA-AB-3002-03A-01D-0739-09 TCGA-AB-3002-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 320ebe6f-48bd-40f1-9be5-1401a3bff328 f0b052b2-f9c8-48b4-a333-936b3da6f164 1 3628599 3628599 C T SNP TP73 NM_005427.1 human genbank 54_36p +1 reviewed missense c.584 p.P195L 1.000 superfamily_p53-like transcription factors,HMMPfam_P53 HMMSmart_SM00454,PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,superfamily_SAM/Pointed domain,HMMPfam_SAM_2,HMMPfam_P53 - no_errors 473 7 1.45833333333333 272 207 43.2150313152401 NA NA NA GBP4 0 genome.wustl.edu 36 1 89433568 89433568 + Missense_Mutation SNP C C A TCGA-AB-3002-03A-01D-0739-09 TCGA-AB-3002-11A-01D-0739-09 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 320ebe6f-48bd-40f1-9be5-1401a3bff328 f0b052b2-f9c8-48b4-a333-936b3da6f164 1 89433568 89433568 C A SNP GBP4 NM_052941.4 human genbank 54_36p -1 validated missense c.363 p.K121N 1.000 HMMPfam_GBP,superfamily_SSF52540 HMMPfam_GBP_C,HMMPfam_GBP,superfamily_GBP,superfamily_SSF52540 - no_errors 572 1 0.174520069808028 650 9 1.36570561456753 35 0 0.00 ARHGEF2 0 genome.wustl.edu 36 1 154189110 154189110 + Silent SNP G G T TCGA-AB-3002-03A-01D-0739-09 TCGA-AB-3002-11A-01D-0739-09 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 320ebe6f-48bd-40f1-9be5-1401a3bff328 f0b052b2-f9c8-48b4-a333-936b3da6f164 1 154189110 154189110 G T SNP ARHGEF2 NM_004723.2 human genbank 54_36p -1 reviewed silent c.1833 p.G611 0.971 NULL HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain),HMMPfam_PH,HMMSmart_SM00233,HMMPfam_C1_1,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,superfamily_PH domain-like,superfamily_Cysteine-rich domain - no_errors 558 8 1.41 294 238 44.65 48 57 54.29 LGTN 0 genome.wustl.edu 36 1 204839488 204839488 + Missense_Mutation SNP T T C TCGA-AB-3002-03A-01D-0739-09 TCGA-AB-3002-11A-01D-0739-09 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 320ebe6f-48bd-40f1-9be5-1401a3bff328 f0b052b2-f9c8-48b4-a333-936b3da6f164 1 204839488 204839488 T C SNP LGTN NM_006893.2 human genbank 54_36p -1 reviewed missense c.1154 p.Y385C 1.000 superfamily_SWIB/MDM2 domain HMMPfam_SUI1,superfamily_eIF1-like,HMMSmart_SM00359,superfamily_SWIB/MDM2 domain,superfamily_PUA domain-like - no_errors 539 11 2.00 335 305 47.51 47 50 51.55 DDX1 0 genome.wustl.edu 36 2 15674817 15674817 + Splice_Site SNP A A G TCGA-AB-3002-03A-01D-0739-09 TCGA-AB-3002-11A-01D-0739-09 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 320ebe6f-48bd-40f1-9be5-1401a3bff328 f0b052b2-f9c8-48b4-a333-936b3da6f164 2 15674817 15674817 A G SNP DDX1 NM_004939.1 human genbank 54_36p +1 reviewed splice_site c.1018-2 e15-2 0.994 - - - no_errors 547 10 1.79533213644524 383 335 46.6573816155989 0 3 100.00 ATG16L1 0 genome.wustl.edu 36 2 233837397 233837397 + Silent SNP C C T TCGA-AB-3002-03A-01D-0739-09 TCGA-AB-3002-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 320ebe6f-48bd-40f1-9be5-1401a3bff328 f0b052b2-f9c8-48b4-a333-936b3da6f164 2 233837397 233837397 C T SNP ATG16L1 NM_030803.3 human genbank 54_36p +1 validated silent c.336 p.D112 1.000 superfamily_WD40 repeat-like,HMMPfam_ATG16 HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_ATG16,PatternScan_WD_REPEATS_1,HMMPfam_WD40 - no_errors 637 10 1.54559505409583 366 297 44.7963800904977 29 6 17.14 HJURP 0 genome.wustl.edu 36 2 234415280 234415280 + Silent SNP G G A TCGA-AB-3002-03A-01D-0739-09 TCGA-AB-3002-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 320ebe6f-48bd-40f1-9be5-1401a3bff328 f0b052b2-f9c8-48b4-a333-936b3da6f164 2 234415280 234415280 G A SNP HJURP NM_018410.3 human genbank 54_36p -1 validated silent c.885 p.S295 0.000 NULL NULL - no_errors 675 4 0.589101620029455 450 331 42.381562099872 15 9 37.50 FBN2 0 genome.wustl.edu 36 5 127725400 127725400 + Silent SNP G G A TCGA-AB-3002-03A-01D-0739-09 TCGA-AB-3002-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 320ebe6f-48bd-40f1-9be5-1401a3bff328 f0b052b2-f9c8-48b4-a333-936b3da6f164 5 127725400 127725400 G A SNP FBN2 NM_001999.3 human genbank 54_36p -1 reviewed silent c.2469 p.N823 0.992 HMMSmart_SM00179,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin PatternScan_ASX_HYDROXYL,HMMSmart_SM00179,HMMPfam_TB,superfamily_TB module/8-cys domain,HMMPfam_EGF,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Growth factor receptor domain,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin - no_errors 1154 9 0.773860705073087 640 498 43.7609841827768 2 0 0.00 PCDHA13 0 genome.wustl.edu 36 5 140243210 140243210 + Silent SNP G G A TCGA-AB-3002-03A-01D-0739-09 TCGA-AB-3002-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 320ebe6f-48bd-40f1-9be5-1401a3bff328 f0b052b2-f9c8-48b4-a333-936b3da6f164 5 140243210 140243210 G A SNP PCDHA13 NM_018904.2 human genbank 54_36p +1 reviewed silent c.1173 p.P391 0.000 HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin-like - no_errors 758 11 1.43042912873862 446 379 45.9393939393939 NA NA NA PCDHGC4 0 genome.wustl.edu 36 5 140846278 140846278 + Missense_Mutation SNP C C G TCGA-AB-3002-03A-01D-0739-09 TCGA-AB-3002-11A-01D-0739-09 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 320ebe6f-48bd-40f1-9be5-1401a3bff328 f0b052b2-f9c8-48b4-a333-936b3da6f164 5 140846278 140846278 C G SNP PCDHGC4 NM_018928.2 human genbank 54_36p +1 reviewed missense c.1354 p.P452A 0.999 HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin-like - no_errors 930 15 1.58730158730159 540 360 40 12 13 52.00 DDX41 0 genome.wustl.edu 36 5 176872959 176872959 + Splice_Site SNP C C T TCGA-AB-3002-03A-01D-0739-09 TCGA-AB-3002-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 320ebe6f-48bd-40f1-9be5-1401a3bff328 f0b052b2-f9c8-48b4-a333-936b3da6f164 5 176872959 176872959 C T SNP DDX41 NM_016222.2 human genbank 54_36p -1 reviewed splice_site c.1230+1 e11+1 1.000 - - - no_errors 675 3 0.442477876106195 556 149 21.1347517730496 8 3 27.27 EZR 0 genome.wustl.edu 36 6 159108034 159108034 + Missense_Mutation SNP T T C TCGA-AB-3002-03A-01D-0739-09 TCGA-AB-3002-11A-01D-0739-09 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 320ebe6f-48bd-40f1-9be5-1401a3bff328 f0b052b2-f9c8-48b4-a333-936b3da6f164 6 159108034 159108034 T C SNP EZR NM_003379.1 human genbank 54_36p -1 reviewed missense c.1661 p.H554R 1.000 superfamily_Moesin,HMMPfam_ERM superfamily_Moesin,HMMPfam_ERM,HMMPfam_FERM_N,HMMPfam_FERM_C,PatternScan_FERM_1,PatternScan_FERM_2,HMMPfam_FERM_M,superfamily_FERM_3-hlx,HMMSmart_B41,superfamily_SSF50729,superfamily_SSF54236 - no_errors 687 5 0.72 558 443 44.21 72 58 44.62 RP1L1 0 genome.wustl.edu 36 8 10506675 10506675 + Silent SNP G G A TCGA-AB-3002-03A-01D-0739-09 TCGA-AB-3002-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 320ebe6f-48bd-40f1-9be5-1401a3bff328 f0b052b2-f9c8-48b4-a333-936b3da6f164 8 10506675 10506675 G A SNP RP1L1 NM_178857.5 human genbank 54_36p -1 validated silent c.2343 p.S781 0.026 NULL HMMPfam_DCX,HMMPfam_S-antigen,superfamily_SSF89837 - no_errors 338 4 1.16959064327485 187 146 43.8438438438438 NA NA NA RP1 0 genome.wustl.edu 36 8 55700208 55700208 + Missense_Mutation SNP G G A TCGA-AB-3002-03A-01D-0739-09 TCGA-AB-3002-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 320ebe6f-48bd-40f1-9be5-1401a3bff328 f0b052b2-f9c8-48b4-a333-936b3da6f164 8 55700208 55700208 G A SNP RP1 ENST00000220676 human ensembl 54_36p +1 known missense c.1213 p.A405T 0.000 NULL HMMPfam_DCX,HMMSmart_DCX,superfamily_SSF89837 - no_errors 688 11 1.57367668097282 489 376 43.4682080924855 NA NA NA CNTLN 0 genome.wustl.edu 36 9 17216283 17216283 + Nonsense_Mutation SNP C C T TCGA-AB-3002-03A-01D-0739-09 TCGA-AB-3002-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 320ebe6f-48bd-40f1-9be5-1401a3bff328 f0b052b2-f9c8-48b4-a333-936b3da6f164 9 17216283 17216283 C T SNP CNTLN NM_017738.1 human genbank 54_36p +1 validated nonsense c.532 p.Q178* 1.000 superfamily_Prefoldin superfamily_Prefoldin - no_errors 386 6 1.53061224489796 257 226 46.7908902691511 6 9 60.00 LOC100129901 0 genome.wustl.edu 36 9 87569444 87569444 + Missense_Mutation SNP C C T TCGA-AB-3002-03A-01D-0739-09 TCGA-AB-3002-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 320ebe6f-48bd-40f1-9be5-1401a3bff328 f0b052b2-f9c8-48b4-a333-936b3da6f164 9 87569444 87569444 C T SNP LOC100129901 XM_001716099.1 human genbank 54_36p +1 model missense c.128 p.A43V 0.997 NULL NULL - no_errors 460 11 2.33545647558386 275 214 43.7627811860941 1 0 0.00 COL27A1 0 genome.wustl.edu 36 9 116084387 116084387 + Missense_Mutation SNP G G A TCGA-AB-3002-03A-01D-0739-09 TCGA-AB-3002-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 320ebe6f-48bd-40f1-9be5-1401a3bff328 f0b052b2-f9c8-48b4-a333-936b3da6f164 9 116084387 116084387 G A SNP COL27A1 NM_032888.2 human genbank 54_36p +1 provisional missense c.3727 p.G1243R 1.000 HMMPfam_Collagen HMMPfam_COLFI,HMMSmart_SM00038,HMMSmart_SM00210,HMMPfam_Collagen,superfamily_Concanavalin A-like lectins/glucanases - no_errors 429 6 1.37931034482759 285 196 40.7484407484408 NA NA NA OR1J2 0 genome.wustl.edu 36 9 124312959 124312959 + Missense_Mutation SNP C C T TCGA-AB-3002-03A-01D-0739-09 TCGA-AB-3002-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 320ebe6f-48bd-40f1-9be5-1401a3bff328 f0b052b2-f9c8-48b4-a333-936b3da6f164 9 124312959 124312959 C T SNP OR1J2 NM_054107.1 human genbank 54_36p +1 provisional missense c.58 p.R20W 0.002 superfamily_Family A G protein-coupled receptor-like HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like - no_errors 891 8 0.89 608 449 42.40 NA NA NA P2RY2 0 genome.wustl.edu 36 11 72623244 72623244 + Missense_Mutation SNP G G T TCGA-AB-3002-03A-01D-0739-09 TCGA-AB-3002-11A-01D-0739-09 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 320ebe6f-48bd-40f1-9be5-1401a3bff328 f0b052b2-f9c8-48b4-a333-936b3da6f164 11 72623244 72623244 G T SNP P2RY2 NM_002564.2 human genbank 54_36p +1 reviewed missense c.392 p.R131L 1.000 HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like - no_errors 798 3 0.37 278 242 46.54 5 6 54.55 DRD2 0 genome.wustl.edu 36 11 112788535 112788535 + Missense_Mutation SNP G G A TCGA-AB-3002-03A-01D-0739-09 TCGA-AB-3002-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 320ebe6f-48bd-40f1-9be5-1401a3bff328 f0b052b2-f9c8-48b4-a333-936b3da6f164 11 112788535 112788535 G A SNP DRD2 NM_000795.3 human genbank 54_36p -1 reviewed missense c.1091 p.S364F 1.000 HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like - no_errors 661 8 1.19581464872945 483 353 42.2248803827751 NA NA NA DAZAP2 0 genome.wustl.edu 36 12 49922439 49922439 + Missense_Mutation SNP A A G TCGA-AB-3002-03A-01D-0739-09 TCGA-AB-3002-11A-01D-0739-09 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 320ebe6f-48bd-40f1-9be5-1401a3bff328 f0b052b2-f9c8-48b4-a333-936b3da6f164 12 49922439 49922439 A G SNP DAZAP2 NM_014764.1 human genbank 54_36p +1 reviewed missense c.437 p.N146S 1.000 NULL NULL - no_errors 1029 5 0.48 505 419 45.35 202 152 42.94 TMEM132C 0 genome.wustl.edu 36 12 127744443 127744443 + Nonsense_Mutation SNP G G A TCGA-AB-3002-03A-01D-0739-09 TCGA-AB-3002-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 320ebe6f-48bd-40f1-9be5-1401a3bff328 f0b052b2-f9c8-48b4-a333-936b3da6f164 12 127744443 127744443 G A SNP TMEM132C ENST00000315208 human ensembl 54_36p +1 known nonsense c.414 p.W138* 1.000 NULL NULL - no_errors 523 4 0.76 352 237 40.24 NA NA NA DCLK1 0 genome.wustl.edu 36 13 35326695 35326695 + Missense_Mutation SNP G G A TCGA-AB-3002-03A-01D-0739-09 TCGA-AB-3002-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 320ebe6f-48bd-40f1-9be5-1401a3bff328 f0b052b2-f9c8-48b4-a333-936b3da6f164 13 35326695 35326695 G A SNP DCLK1 NM_004734.3 human genbank 54_36p -1 validated missense c.976 p.R326C 0.998 NULL HMMSmart_S_TKc,HMMPfam_DCX,HMMSmart_DCX,PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase,superfamily_SSF89837 - no_errors 399 0 0 537 3 0.555555555555556 2 0 0.00 IDH2 0 genome.wustl.edu 36 15 88432938 88432938 + Missense_Mutation SNP C C A rs121913502 TCGA-AB-3002-03A-01D-0739-09 TCGA-AB-3002-11A-01D-0739-09 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 320ebe6f-48bd-40f1-9be5-1401a3bff328 f0b052b2-f9c8-48b4-a333-936b3da6f164 15 88432938 88432938 C A SNP IDH2 NM_002168.2 human genbank 54_36p -1 reviewed missense c.419 p.R140L 1.000 HMMPfam_Iso_dh,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like HMMPfam_Iso_dh,PatternScan_IDH_IMDH,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like - no_errors 740 12 1.59574468085106 381 307 44.6220930232558 155 138 47.10 ITGAX 0 genome.wustl.edu 36 16 31290499 31290499 + Missense_Mutation SNP C C T TCGA-AB-3002-03A-01D-0739-09 TCGA-AB-3002-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 320ebe6f-48bd-40f1-9be5-1401a3bff328 f0b052b2-f9c8-48b4-a333-936b3da6f164 16 31290499 31290499 C T SNP ITGAX NM_000887.3 human genbank 54_36p +1 reviewed missense c.2053 p.R685C 1.000 HMMPfam_Integrin_alpha2,superfamily_SSF69179 HMMPfam_VWA,HMMSmart_VWA,HMMPfam_Integrin_alpha,HMMPfam_FG-GAP,HMMSmart_Int_alpha,HMMPfam_Integrin_alpha2,PatternScan_INTEGRIN_ALPHA,superfamily_SSF53300,superfamily_SSF69179,superfamily_SSF69318 - no_errors 952 28 2.85 283 236 45.30 16 25 60.98 MIR632 0 genome.wustl.edu 36 17 27701282 27701282 + RNA SNP C C A TCGA-AB-3002-03A-01D-0739-09 TCGA-AB-3002-11A-01D-0739-09 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 320ebe6f-48bd-40f1-9be5-1401a3bff328 f0b052b2-f9c8-48b4-a333-936b3da6f164 17 27701282 27701282 C A SNP MIRN632 ENST00000385193 human ensembl 54_36p +1 known rna NULL NULL 0.749 - - - no_errors 320 0 0 361 5 1.36612021857923 15 0 0.00 MIR142 0 genome.wustl.edu 36 17 53763621 53763621 + RNA SNP C C G TCGA-AB-3002-03A-01D-0739-09 TCGA-AB-3002-11A-01D-0739-09 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 320ebe6f-48bd-40f1-9be5-1401a3bff328 f0b052b2-f9c8-48b4-a333-936b3da6f164 17 53763621 53763621 C G SNP MIRN142 ENST00000384835 human ensembl 54_36p -1 known rna NULL NULL 1.000 - - - no_errors 1707 17 0.98 169 138 44.95 29 4 11.76 MIR142 0 genome.wustl.edu 36 17 53763624 53763624 + RNA SNP T T C TCGA-AB-3002-03A-01D-0739-09 TCGA-AB-3002-11A-01D-0739-09 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 320ebe6f-48bd-40f1-9be5-1401a3bff328 f0b052b2-f9c8-48b4-a333-936b3da6f164 17 53763624 53763624 T C SNP MIRN142 ENST00000384835 human ensembl 54_36p -1 known rna NULL NULL 1.000 - - - no_errors 1692 14 0.82 181 121 40.07 5 25 83.33 MYO1F 0 genome.wustl.edu 36 19 8512789 8512789 + Splice_Site SNP C C T TCGA-AB-3002-03A-01D-0739-09 TCGA-AB-3002-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 320ebe6f-48bd-40f1-9be5-1401a3bff328 f0b052b2-f9c8-48b4-a333-936b3da6f164 19 8512789 8512789 C T SNP MYO1F NM_012335.2 human genbank 54_36p -1 provisional splice_site c.1610+1 e15+1 1.000 - - - no_errors 542 8 1.45454545454545 319 257 44.6180555555556 18 11 36.67 ZNF260 0 genome.wustl.edu 36 19 41696897 41696897 + Missense_Mutation SNP A A G TCGA-AB-3002-03A-01D-0739-09 TCGA-AB-3002-11A-01D-0739-09 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 320ebe6f-48bd-40f1-9be5-1401a3bff328 f0b052b2-f9c8-48b4-a333-936b3da6f164 19 41696897 41696897 A G SNP ZNF260 NM_001012756.1 human genbank 54_36p -1 validated missense c.1084 p.C362R 0.744 HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 - no_errors 501 0 0 582 7 1.18845500848896 8 0 0.00 LOC388553 0 genome.wustl.edu 36 19 50958451 50958451 + Silent SNP C C T TCGA-AB-3002-03A-01D-0739-09 TCGA-AB-3002-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 320ebe6f-48bd-40f1-9be5-1401a3bff328 f0b052b2-f9c8-48b4-a333-936b3da6f164 19 50958451 50958451 C T SNP LOC388553 XM_373809.1 human genbank 54_36p +1 model silent c.1554 p.T518 0.395 HMMPfam_HMG_box,HMMSmart_SM00398,superfamily_HMG-box HMMPfam_HMG_box,HMMSmart_SM00398,HMMPfam_HLH,superfamily_HMG-box - no_errors 395 2 0.503778337531486 222 203 47.7647058823529 NA NA NA NCR1 0 genome.wustl.edu 36 19 60109826 60109826 + Silent SNP C C T TCGA-AB-3002-03A-01D-0739-09 TCGA-AB-3002-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 320ebe6f-48bd-40f1-9be5-1401a3bff328 f0b052b2-f9c8-48b4-a333-936b3da6f164 19 60109826 60109826 C T SNP NCR1 NM_004829.1 human genbank 54_36p +1 validated silent c.204 p.A68 0.000 HMMSmart_SM00409,superfamily_Immunoglobulin HMMSmart_SM00409,superfamily_Immunoglobulin - no_errors 723 0 0 821 10 1.20336943441637 1 0 0.00 KCNQ2 0 genome.wustl.edu 36 20 61515246 61515246 + Splice_Site SNP C C T TCGA-AB-3002-03A-01D-0739-09 TCGA-AB-3002-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 320ebe6f-48bd-40f1-9be5-1401a3bff328 f0b052b2-f9c8-48b4-a333-936b3da6f164 20 61515246 61515246 C T SNP KCNQ2 NM_172107.4 human genbank 54_36p -1 reviewed splice_site c.1763+1 e15+1 1.000 - - - no_errors 251 9 3.46153846153846 132 117 46.9879518072289 0 0 0.00 LOC441957 0 genome.wustl.edu 36 21 14058883 14058883 + RNA SNP C C T TCGA-AB-3002-03A-01D-0739-09 TCGA-AB-3002-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 320ebe6f-48bd-40f1-9be5-1401a3bff328 f0b052b2-f9c8-48b4-a333-936b3da6f164 21 14058883 14058883 C T SNP LOC441957 XR_016199.1 human genbank 54_36p +1 model rna NULL NULL 0.375 - - - pseudogene 341 6 1.72910662824208 230 182 44.1747572815534 0 0 0.00