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_WU start_WU stop_WU reference_WU variant_WU type_WU gene_name_WU transcript_name_WU transcript_species_WU transcript_source_WU transcript_version_WU strand_WU transcript_status_WU trv_type_WU c_position_WU amino_acid_change_WU ucsc_cons_WU domain_WU all_domains_WU deletion_substructures_WU transcript_error_WU default_gene_name_WU gene_name_source_WU ensembl_gene_id normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumors_var_reads tumor_vaf EVS_EA EVS_AA EVS_All APPL2 0 genome.wustl.edu 37 12 105570747 105570747 + Missense_Mutation SNP C C G TCGA-AN-A0XP-01A-11D-A117-09 TCGA-AN-A0XP-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6179b498-2cea-4f7a-82a8-b7ec71431ea8 6c4eee86-8839-4a74-a786-b37e7dd35b21 12 105570747 105570747 C G SNP APPL2 ENST00000551662 human ensembl 69_37n -1 known missense c.1737 p.K579N 1.000 pfam_PTyr_interaction_dom,pfam_PTB,smart_PTyr_interaction_dom pfam_PTyr_interaction_dom,pfam_Pleckstrin_homology,pfam_PTB,smart_Pleckstrin_homology,smart_PTyr_interaction_dom,pfscan_Pleckstrin_homology,pfscan_PTyr_interaction_dom - no_errors APPL2 HGNC ENSG00000136044 192 0 0.00 91 72 44.17 - - - CAMSAP1 0 genome.wustl.edu 37 9 138714311 138714311 + Silent SNP A A T TCGA-AN-A0XP-01A-11D-A117-09 TCGA-AN-A0XP-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6179b498-2cea-4f7a-82a8-b7ec71431ea8 6c4eee86-8839-4a74-a786-b37e7dd35b21 9 138714311 138714311 A T SNP CAMSAP1 ENST00000409386 human ensembl 69_37n -1 known silent c.2229 p.T743 0.000 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain - no_errors CAMSAP1 HGNC ENSG00000130559 81 0 0.00 69 31 31.00 - - - CAPN1 0 genome.wustl.edu 37 11 64953422 64953422 + Missense_Mutation SNP T T C TCGA-AN-A0XP-01A-11D-A117-09 TCGA-AN-A0XP-10A-01D-A10G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6179b498-2cea-4f7a-82a8-b7ec71431ea8 6c4eee86-8839-4a74-a786-b37e7dd35b21 11 64953422 64953422 T C SNP CAPN1 ENST00000279247 human ensembl 69_37n +1 known missense c.491 p.V164A 1.000 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN1 HGNC ENSG00000014216 87 0 0.00 78 34 30.36 - - - CCDC120 0 genome.wustl.edu 37 X 48924824 48924824 + Missense_Mutation SNP C C T TCGA-AN-A0XP-01A-11D-A117-09 TCGA-AN-A0XP-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6179b498-2cea-4f7a-82a8-b7ec71431ea8 6c4eee86-8839-4a74-a786-b37e7dd35b21 X 48924824 48924824 C T SNP CCDC120 ENST00000422185 human ensembl 69_37n +1 known missense c.1069 p.R357C 1.000 NULL pfam_DUF3338 - no_errors CCDC120 HGNC ENSG00000147144 8 0 0.00 9 5 35.71 - - - CD2 0 genome.wustl.edu 37 1 117311091 117311091 + Nonsense_Mutation SNP G G T TCGA-AN-A0XP-01A-11D-A117-09 TCGA-AN-A0XP-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6179b498-2cea-4f7a-82a8-b7ec71431ea8 6c4eee86-8839-4a74-a786-b37e7dd35b21 1 117311091 117311091 G T SNP CD2 ENST00000369478 human ensembl 69_37n +1 known nonsense c.742 p.E248* 0.823 NULL pfam_Ig_C2-set,pfam_Ig_V-set,prints_T-cell_sdhesion_molc_CD2 - no_errors CD2 HGNC ENSG00000116824 42 0 0.00 47 6 11.32 - - - CD34 0 genome.wustl.edu 37 1 208063100 208063101 + Frame_Shift_Ins INS - - AA TCGA-AN-A0XP-01A-11D-A117-09 TCGA-AN-A0XP-10A-01D-A10G-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6179b498-2cea-4f7a-82a8-b7ec71431ea8 6c4eee86-8839-4a74-a786-b37e7dd35b21 1 208063100 208063101 - AA INS CD34 ENST00000367036 human ensembl 69_37n -1 known frame_shift_ins c.83_82 p.S28fs 0.000:0.000 NULL pfam_CD34/Podocalyxin,prints_CD34 - no_errors CD34 HGNC ENSG00000174059 15 0 0.00 12 3 20.00 - - - CHD1L 0 genome.wustl.edu 37 1 146724328 146724328 + Missense_Mutation SNP C C T TCGA-AN-A0XP-01A-11D-A117-09 TCGA-AN-A0XP-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6179b498-2cea-4f7a-82a8-b7ec71431ea8 6c4eee86-8839-4a74-a786-b37e7dd35b21 1 146724328 146724328 C T SNP CHD1L ENST00000369258 human ensembl 69_37n +1 known missense c.178 p.R60C 0.777 pfam_SNF2_N,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_A1pp,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors CHD1L HGNC ENSG00000131778 181 0 0.00 248 70 22.01 - - - CSNK1A1L 0 genome.wustl.edu 37 13 37678520 37678520 + Missense_Mutation SNP A A G TCGA-AN-A0XP-01A-11D-A117-09 TCGA-AN-A0XP-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6179b498-2cea-4f7a-82a8-b7ec71431ea8 6c4eee86-8839-4a74-a786-b37e7dd35b21 13 37678520 37678520 A G SNP CSNK1A1L ENST00000379800 human ensembl 69_37n -1 known missense c.874 p.Y292H 1.000 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CSNK1A1L HGNC ENSG00000180138 260 0 0.00 239 96 28.57 - - - CYP24A1 0 genome.wustl.edu 37 20 52789446 52789446 + Splice_Site SNP A A T TCGA-AN-A0XP-01A-11D-A117-09 TCGA-AN-A0XP-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6179b498-2cea-4f7a-82a8-b7ec71431ea8 6c4eee86-8839-4a74-a786-b37e7dd35b21 20 52789446 52789446 A T SNP CYP24A1 ENST00000216862 human ensembl 69_37n -1 known splice_site c.449+2 e2+2 1.000 - - - no_errors CYP24A1 HGNC ENSG00000019186 60 0 0.00 81 24 22.86 - - - FAM86DP 0 genome.wustl.edu 37 3 75471725 75471725 + RNA SNP A A G TCGA-AN-A0XP-01A-11D-A117-09 TCGA-AN-A0XP-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6179b498-2cea-4f7a-82a8-b7ec71431ea8 6c4eee86-8839-4a74-a786-b37e7dd35b21 3 75471725 75471725 A G SNP FAM86DP ENST00000459803 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors FAM86DP HGNC ENSG00000244026 12 0 0.00 6 4 36.36 - - - FAT1 0 genome.wustl.edu 37 4 187524066 187524066 + Nonsense_Mutation SNP G G A TCGA-AN-A0XP-01A-11D-A117-09 TCGA-AN-A0XP-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6179b498-2cea-4f7a-82a8-b7ec71431ea8 6c4eee86-8839-4a74-a786-b37e7dd35b21 4 187524066 187524066 G A SNP FAT1 ENST00000441802 human ensembl 69_37n -1 known nonsense c.11473 p.Q3825* 0.685 smart_EGF-like,pfscan_EG-like_dom pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_Laminin_G,smart_EGF-like_Ca-bd,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT1 HGNC ENSG00000083857 45 0 0.00 16 18 52.94 - - - GTF2IRD2 0 genome.wustl.edu 37 7 74234113 74234113 + Missense_Mutation SNP T T C TCGA-AN-A0XP-01A-11D-A117-09 TCGA-AN-A0XP-10A-01D-A10G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6179b498-2cea-4f7a-82a8-b7ec71431ea8 6c4eee86-8839-4a74-a786-b37e7dd35b21 7 74234113 74234113 T C SNP GTF2IRD2 ENST00000405086 human ensembl 69_37n -1 known missense c.641 p.N214S 0.131 NULL pfam_GTF2I,superfamily_GTF2I,superfamily_RNaseH-like_dom,pfscan_GTF2I - no_errors GTF2IRD2 HGNC ENSG00000196275 22 0 0.00 12 9 42.86 - - - HIST2H2AC 0 genome.wustl.edu 37 1 149858866 149858866 + Silent SNP C C G TCGA-AN-A0XP-01A-11D-A117-09 TCGA-AN-A0XP-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6179b498-2cea-4f7a-82a8-b7ec71431ea8 6c4eee86-8839-4a74-a786-b37e7dd35b21 1 149858866 149858866 C G SNP HIST2H2AC ENST00000331380 human ensembl 69_37n +1 known silent c.342 p.A114 0.990 superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST2H2AC HGNC ENSG00000184260 65 0 0.00 104 24 18.60 - - - HSD17B4 0 genome.wustl.edu 37 5 118860980 118860980 + Frame_Shift_Del DEL G G - TCGA-AN-A0XP-01A-11D-A117-09 TCGA-AN-A0XP-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6179b498-2cea-4f7a-82a8-b7ec71431ea8 6c4eee86-8839-4a74-a786-b37e7dd35b21 5 118860980 118860980 G - DEL HSD17B4 ENST00000256216 human ensembl 69_37n +1 known frame_shift_del c.1573 p.G525fs 1.000 pfam_MaoC_deHydtase pfam_MaoC_deHydtase,pfam_DH_sc/Rdtase_SDR,pfam_SCP2_sterol-bd_dom,pfam_PKS_KR,superfamily_SCP2_sterol-bd_dom,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH - no_errors HSD17B4 HGNC ENSG00000133835 202 0 0.00 157 65 28.89 - - - KIAA0947 0 genome.wustl.edu 37 5 5457514 5457514 + Missense_Mutation SNP G G A TCGA-AN-A0XP-01A-11D-A117-09 TCGA-AN-A0XP-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6179b498-2cea-4f7a-82a8-b7ec71431ea8 6c4eee86-8839-4a74-a786-b37e7dd35b21 5 5457514 5457514 G A SNP KIAA0947 ENST00000296564 human ensembl 69_37n +1 known missense c.761 p.G254D 0.000 NULL superfamily_Vitellinogen_superhlx - no_errors KIAA0947 HGNC ENSG00000164151 84 0 0.00 71 37 34.26 - - - LBR 0 genome.wustl.edu 37 1 225592382 225592382 + Missense_Mutation SNP C C T TCGA-AN-A0XP-01A-11D-A117-09 TCGA-AN-A0XP-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6179b498-2cea-4f7a-82a8-b7ec71431ea8 6c4eee86-8839-4a74-a786-b37e7dd35b21 1 225592382 225592382 C T SNP LBR ENST00000272163 human ensembl 69_37n -1 known missense c.1510 p.A504T 1.000 pfam_Ergosterol_biosynth_ERG4_ERG24,pfam_DUF1295 pfam_Ergosterol_biosynth_ERG4_ERG24,pfam_Lamin-B_rcpt_of_tudor,pfam_DUF1295,smart_Tudor - no_errors LBR HGNC ENSG00000143815 199 0 0.00 205 48 18.97 - - - MLL3 0 genome.wustl.edu 37 7 151845282 151845283 + Frame_Shift_Del DEL GG GG - TCGA-AN-A0XP-01A-11D-A117-09 TCGA-AN-A0XP-10A-01D-A10G-09 GG GG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6179b498-2cea-4f7a-82a8-b7ec71431ea8 6c4eee86-8839-4a74-a786-b37e7dd35b21 7 151845282 151845283 GG - DEL MLL3 ENST00000355193 human ensembl 69_37n -1 known frame_shift_del c.13901_13900 p.P4634fs 1.000:1.000 pfam_FYrich_N,smart_FYrich_N pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC ENSG00000055609 51 0 0.00 58 27 31.40 - - - NCR2 0 genome.wustl.edu 37 6 41304105 41304105 + Silent SNP C C A TCGA-AN-A0XP-01A-11D-A117-09 TCGA-AN-A0XP-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6179b498-2cea-4f7a-82a8-b7ec71431ea8 6c4eee86-8839-4a74-a786-b37e7dd35b21 6 41304105 41304105 C A SNP NCR2 ENST00000373089 human ensembl 69_37n +1 known silent c.333 p.I111 0.001 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like - no_errors NCR2 HGNC ENSG00000096264 60 0 0.00 50 29 36.71 - - - OR4K14 0 genome.wustl.edu 37 14 20482985 20482985 + Missense_Mutation SNP C C G TCGA-AN-A0XP-01A-11D-A117-09 TCGA-AN-A0XP-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6179b498-2cea-4f7a-82a8-b7ec71431ea8 6c4eee86-8839-4a74-a786-b37e7dd35b21 14 20482985 20482985 C G SNP OR4K14 ENST00000305045 human ensembl 69_37n -1 known missense c.368 p.R123T 0.999 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR4K14 HGNC ENSG00000169484 105 0 0.00 84 35 29.41 - - - PIK3CA 0 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-AN-A0XP-01A-11D-A117-09 TCGA-AN-A0XP-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6179b498-2cea-4f7a-82a8-b7ec71431ea8 6c4eee86-8839-4a74-a786-b37e7dd35b21 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 136 0 0.00 67 56 45.53 - - - RTN4RL1 0 genome.wustl.edu 37 17 1839853 1839853 + Silent SNP C C T TCGA-AN-A0XP-01A-11D-A117-09 TCGA-AN-A0XP-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6179b498-2cea-4f7a-82a8-b7ec71431ea8 6c4eee86-8839-4a74-a786-b37e7dd35b21 17 1839853 1839853 C T SNP RTN4RL1 ENST00000331238 human ensembl 69_37n -1 known silent c.1263 p.S421 0.858 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors RTN4RL1 HGNC ENSG00000185924 14 0 0.00 6 12 66.67 - - - SCN8A 0 genome.wustl.edu 37 12 52115519 52115519 + Missense_Mutation SNP G G A TCGA-AN-A0XP-01A-11D-A117-09 TCGA-AN-A0XP-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6179b498-2cea-4f7a-82a8-b7ec71431ea8 6c4eee86-8839-4a74-a786-b37e7dd35b21 12 52115519 52115519 G A SNP SCN8A ENST00000354534 human ensembl 69_37n +1 known missense c.1825 p.E609K 0.999 pfam_DUF3451 pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN8A HGNC ENSG00000196876 14 0 0.00 11 6 35.29 - - - SH3BP1 0 genome.wustl.edu 37 22 38037425 38037425 + Missense_Mutation SNP C C G TCGA-AN-A0XP-01A-11D-A117-09 TCGA-AN-A0XP-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6179b498-2cea-4f7a-82a8-b7ec71431ea8 6c4eee86-8839-4a74-a786-b37e7dd35b21 22 38037425 38037425 C G SNP SH3BP1 ENST00000357436 human ensembl 69_37n +1 known missense c.147 p.I49M 0.940 pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom pfam_RhoGAP_dom,pfam_BAR_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom - no_errors SH3BP1 HGNC ENSG00000100092 25 0 0.00 19 11 36.67 - - - SHARPIN 0 genome.wustl.edu 37 8 145154196 145154196 + Silent SNP A A C TCGA-AN-A0XP-01A-11D-A117-09 TCGA-AN-A0XP-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6179b498-2cea-4f7a-82a8-b7ec71431ea8 6c4eee86-8839-4a74-a786-b37e7dd35b21 8 145154196 145154196 A C SNP SHARPIN ENST00000398712 human ensembl 69_37n -1 known silent c.906 p.A302 0.896 NULL pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_Znf_RanBP2 - no_errors SHARPIN HGNC ENSG00000179526 27 0 0.00 35 13 27.08 - - - SLC1A4 0 genome.wustl.edu 37 2 65243809 65243809 + Splice_Site SNP T T C TCGA-AN-A0XP-01A-11D-A117-09 TCGA-AN-A0XP-10A-01D-A10G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6179b498-2cea-4f7a-82a8-b7ec71431ea8 6c4eee86-8839-4a74-a786-b37e7dd35b21 2 65243809 65243809 T C SNP SLC1A4 ENST00000234256 human ensembl 69_37n +1 known splice_site c.1034+2 e5+2 1.000 - - - no_errors SLC1A4 HGNC ENSG00000115902 113 0 0.00 58 41 41.41 - - - SNRNP200 0 genome.wustl.edu 37 2 96956114 96956114 + Missense_Mutation SNP G G A TCGA-AN-A0XP-01A-11D-A117-09 TCGA-AN-A0XP-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6179b498-2cea-4f7a-82a8-b7ec71431ea8 6c4eee86-8839-4a74-a786-b37e7dd35b21 2 96956114 96956114 G A SNP SNRNP200 ENST00000323853 human ensembl 69_37n -1 known missense c.2692 p.P898S 1.000 pfscan_Helicase_C pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SNRNP200 HGNC ENSG00000144028 90 0 0.00 65 27 29.35 - - - TACC1 0 genome.wustl.edu 37 8 38684873 38684873 + Missense_Mutation SNP C C T TCGA-AN-A0XP-01A-11D-A117-09 TCGA-AN-A0XP-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6179b498-2cea-4f7a-82a8-b7ec71431ea8 6c4eee86-8839-4a74-a786-b37e7dd35b21 8 38684873 38684873 C T SNP TACC1 ENST00000379931 human ensembl 69_37n +1 known missense c.1676 p.A559V 0.998 NULL pfam_TACC - no_errors TACC1 HGNC ENSG00000147526 140 0 0.00 116 63 35.20 - - -