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 ADAMTS2 0 genome.wustl.edu 37 5 178566948 178566948 + Missense_Mutation SNP C C T TCGA-A7-A3J1-01A-11D-A20S-09 TCGA-A7-A3J1-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ce9601e-907b-4ab4-b0c6-4f0a1b2b9011 bcb23fdf-5ae8-4659-8e65-1f8a7f0b44ea 5 178566948 178566948 C T SNP ADAMTS2 ENST00000251582 human ensembl 69_37n -1 known missense c.1718 p.C573Y 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_Thrombospondin_1_rpt pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B - no_errors ADAMTS2 HGNC ENSG00000087116 31 0 0.00 22 9 29.03 - - - ADAMTSL5 0 genome.wustl.edu 37 19 1506309 1506309 + Splice_Site SNP T T G TCGA-A7-A3J1-01A-11D-A20S-09 TCGA-A7-A3J1-10A-01D-A20S-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ce9601e-907b-4ab4-b0c6-4f0a1b2b9011 bcb23fdf-5ae8-4659-8e65-1f8a7f0b44ea 19 1506309 1506309 T G SNP ADAMTSL5 ENST00000395467 human ensembl 69_37n -1 known splice_site c.350-2 e3-2 1.000 - - - no_errors ADAMTSL5 HGNC ENSG00000185761 17 0 0.00 16 4 20.00 - - - ALS2CR11 0 genome.wustl.edu 37 2 202357559 202357559 + Missense_Mutation SNP G G T TCGA-A7-A3J1-01A-11D-A20S-09 TCGA-A7-A3J1-10A-01D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ce9601e-907b-4ab4-b0c6-4f0a1b2b9011 bcb23fdf-5ae8-4659-8e65-1f8a7f0b44ea 2 202357559 202357559 G T SNP ALS2CR11 ENST00000439140 human ensembl 69_37n -1 novel missense c.3505 p.H1169N 0.981 NULL superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors ALS2CR11 HGNC ENSG00000155754 22 0 0.00 16 3 15.79 - - - CDH1 0 genome.wustl.edu 37 16 68857496 68857496 + Frame_Shift_Del DEL C C - TCGA-A7-A3J1-01A-11D-A20S-09 TCGA-A7-A3J1-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ce9601e-907b-4ab4-b0c6-4f0a1b2b9011 bcb23fdf-5ae8-4659-8e65-1f8a7f0b44ea 16 68857496 68857496 C - DEL CDH1 ENST00000261769 human ensembl 69_37n +1 known frame_shift_del c.2131 p.L711fs 0.273 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH1 HGNC ENSG00000039068 44 0 0.00 16 11 40.74 - - - GPT2 0 genome.wustl.edu 37 16 46918827 46918827 + Missense_Mutation SNP C C T TCGA-A7-A3J1-01A-11D-A20S-09 TCGA-A7-A3J1-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ce9601e-907b-4ab4-b0c6-4f0a1b2b9011 bcb23fdf-5ae8-4659-8e65-1f8a7f0b44ea 16 46918827 46918827 C T SNP GPT2 ENST00000340124 human ensembl 69_37n +1 known missense c.200 p.P67L 1.000 superfamily_PyrdxlP-dep_Trfase_major_dom pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors GPT2 HGNC ENSG00000166123 15 0 0.00 16 6 27.27 - - - HUWE1 0 genome.wustl.edu 37 X 53602625 53602625 + Missense_Mutation SNP G G A TCGA-A7-A3J1-01A-11D-A20S-09 TCGA-A7-A3J1-10A-01D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ce9601e-907b-4ab4-b0c6-4f0a1b2b9011 bcb23fdf-5ae8-4659-8e65-1f8a7f0b44ea X 53602625 53602625 G A SNP HUWE1 ENST00000262854 human ensembl 69_37n -1 known missense c.6008 p.T2003M 0.163 NULL pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC ENSG00000086758 30 0 0.00 28 8 22.22 - - - KANSL2 0 genome.wustl.edu 37 12 49075811 49075811 + Silent SNP T T G TCGA-A7-A3J1-01A-11D-A20S-09 TCGA-A7-A3J1-10A-01D-A20S-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ce9601e-907b-4ab4-b0c6-4f0a1b2b9011 bcb23fdf-5ae8-4659-8e65-1f8a7f0b44ea 12 49075811 49075811 T G SNP KANSL2 ENST00000550347 human ensembl 69_37n -1 putative silent c.154 p.R52 0.025 NULL NULL - no_errors KANSL2 HGNC ENSG00000139620 20 0 0.00 21 4 16.00 - - - LILRA2 0 genome.wustl.edu 37 19 55098805 55098805 + Missense_Mutation SNP G G A TCGA-A7-A3J1-01A-11D-A20S-09 TCGA-A7-A3J1-10A-01D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ce9601e-907b-4ab4-b0c6-4f0a1b2b9011 bcb23fdf-5ae8-4659-8e65-1f8a7f0b44ea 19 55098805 55098805 G A SNP LILRA2 ENST00000251377 human ensembl 69_37n +1 known missense c.1444 p.G482R 0.000 pirsf_A1B_glyco/leuk_Ig-like_rcpt smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like - no_errors LILRA2 HGNC ENSG00000239998 44 0 0.00 44 14 24.14 - - - LRRC37A6P 0 genome.wustl.edu 37 10 27540561 27540561 + RNA SNP C C T TCGA-A7-A3J1-01A-11D-A20S-09 TCGA-A7-A3J1-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ce9601e-907b-4ab4-b0c6-4f0a1b2b9011 bcb23fdf-5ae8-4659-8e65-1f8a7f0b44ea 10 27540561 27540561 C T SNP LRRC37A6P ENST00000574795 human ensembl 69_37n -1 known rna NULL NULL 0.002 - - - no_errors LRRC37A6P HGNC ENSG00000230445 30 0 0.00 36 12 25.00 - - - MAP3K5 0 genome.wustl.edu 37 6 137019648 137019648 + Missense_Mutation SNP T T A TCGA-A7-A3J1-01A-11D-A20S-09 TCGA-A7-A3J1-10A-01D-A20S-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ce9601e-907b-4ab4-b0c6-4f0a1b2b9011 bcb23fdf-5ae8-4659-8e65-1f8a7f0b44ea 6 137019648 137019648 T A SNP MAP3K5 ENST00000359015 human ensembl 69_37n -1 known missense c.785 p.K262M 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP3K5 HGNC ENSG00000197442 34 0 0.00 19 3 13.64 - - - MEG3 0 genome.wustl.edu 37 14 101300843 101300843 + RNA SNP G G A TCGA-A7-A3J1-01A-11D-A20S-09 TCGA-A7-A3J1-10A-01D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ce9601e-907b-4ab4-b0c6-4f0a1b2b9011 bcb23fdf-5ae8-4659-8e65-1f8a7f0b44ea 14 101300843 101300843 G A SNP MEG3 ENST00000398461 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors MEG3 HGNC ENSG00000214548 37 0 0.00 27 4 12.90 - - - MGAT4A 0 genome.wustl.edu 37 2 99279812 99279812 + Missense_Mutation SNP C C A TCGA-A7-A3J1-01A-11D-A20S-09 TCGA-A7-A3J1-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ce9601e-907b-4ab4-b0c6-4f0a1b2b9011 bcb23fdf-5ae8-4659-8e65-1f8a7f0b44ea 2 99279812 99279812 C A SNP MGAT4A ENST00000414521 human ensembl 69_37n -1 known missense c.11 p.S4I 0.000 NULL pfam_Glyco_transf_54 - no_errors MGAT4A HGNC ENSG00000071073 18 0 0.00 10 3 23.08 - - - MIR300 0 genome.wustl.edu 37 14 101507721 101507721 + RNA SNP C C T TCGA-A7-A3J1-01A-11D-A20S-09 TCGA-A7-A3J1-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ce9601e-907b-4ab4-b0c6-4f0a1b2b9011 bcb23fdf-5ae8-4659-8e65-1f8a7f0b44ea 14 101507721 101507721 C T SNP MIR300 ENST00000401138 human ensembl 69_37n +1 known rna NULL NULL 0.002 - - - no_errors MIR300 HGNC ENSG00000215957 34 0 0.00 20 13 39.39 - - - MIR3689B 0 genome.wustl.edu 37 9 137742018 137742018 + RNA SNP A A G TCGA-A7-A3J1-01A-11D-A20S-09 TCGA-A7-A3J1-10A-01D-A20S-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ce9601e-907b-4ab4-b0c6-4f0a1b2b9011 bcb23fdf-5ae8-4659-8e65-1f8a7f0b44ea 9 137742018 137742018 A G SNP MIR3689B ENST00000581772 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors MIR3689B HGNC ENSG00000264163 21 0 0.00 25 7 21.88 - - - MTERFD2 0 genome.wustl.edu 37 2 242026649 242026649 + RNA SNP A A G TCGA-A7-A3J1-01A-11D-A20S-09 TCGA-A7-A3J1-10A-01D-A20S-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ce9601e-907b-4ab4-b0c6-4f0a1b2b9011 bcb23fdf-5ae8-4659-8e65-1f8a7f0b44ea 2 242026649 242026649 A G SNP MTERFD2 ENST00000455202 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors MTERFD2 HGNC ENSG00000122085 22 0 0.00 12 3 20.00 - - - MYH8 0 genome.wustl.edu 37 17 10299647 10299647 + Missense_Mutation SNP C C A TCGA-A7-A3J1-01A-11D-A20S-09 TCGA-A7-A3J1-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ce9601e-907b-4ab4-b0c6-4f0a1b2b9011 bcb23fdf-5ae8-4659-8e65-1f8a7f0b44ea 17 10299647 10299647 C A SNP MYH8 ENST00000403437 human ensembl 69_37n -1 known missense c.4653 p.E1551D 1.000 pfam_Myosin_tail,superfamily_t-SNARE pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH8 HGNC ENSG00000133020 62 0 0.00 52 15 22.39 - - - OCSTAMP 0 genome.wustl.edu 37 20 45170213 45170213 + Silent SNP A A G TCGA-A7-A3J1-01A-11D-A20S-09 TCGA-A7-A3J1-10A-01D-A20S-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ce9601e-907b-4ab4-b0c6-4f0a1b2b9011 bcb23fdf-5ae8-4659-8e65-1f8a7f0b44ea 20 45170213 45170213 A G SNP OCSTAMP ENST00000279028 human ensembl 69_37n -1 known silent c.1401 p.S467 0.000 NULL pfam_DC_STAMP-like - no_errors OCSTAMP HGNC ENSG00000149635 15 0 0.00 10 12 54.55 - - - OR51A7 0 genome.wustl.edu 37 11 4929467 4929467 + Missense_Mutation SNP G G T TCGA-A7-A3J1-01A-11D-A20S-09 TCGA-A7-A3J1-10A-01D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ce9601e-907b-4ab4-b0c6-4f0a1b2b9011 bcb23fdf-5ae8-4659-8e65-1f8a7f0b44ea 11 4929467 4929467 G T SNP OR51A7 ENST00000359350 human ensembl 69_37n +1 known missense c.868 p.V290L 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR51A7 HGNC ENSG00000176895 36 0 0.00 34 9 20.93 - - - PIK3CA 0 genome.wustl.edu 37 3 178921553 178921553 + Missense_Mutation SNP T T A TCGA-A7-A3J1-01A-11D-A20S-09 TCGA-A7-A3J1-10A-01D-A20S-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ce9601e-907b-4ab4-b0c6-4f0a1b2b9011 bcb23fdf-5ae8-4659-8e65-1f8a7f0b44ea 3 178921553 178921553 T A SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.1035 p.N345K 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_C2_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 36 0 0.00 21 8 27.59 - - - PKD1 0 genome.wustl.edu 37 16 2147330 2147330 + Silent SNP G G A TCGA-A7-A3J1-01A-11D-A20S-09 TCGA-A7-A3J1-10A-01D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ce9601e-907b-4ab4-b0c6-4f0a1b2b9011 bcb23fdf-5ae8-4659-8e65-1f8a7f0b44ea 16 2147330 2147330 G A SNP PKD1 ENST00000262304 human ensembl 69_37n -1 known silent c.10395 p.F3465 0.905 NULL pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_LipOase_LH2,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like,pfscan_WSC_carb-bd,prints_PKD_1,tigrfam_Polycystin_cat - no_errors PKD1 HGNC ENSG00000008710 46 0 0.00 58 25 30.12 - - - PRAMEF4 0 genome.wustl.edu 37 1 12939782 12939782 + Silent SNP A A G TCGA-A7-A3J1-01A-11D-A20S-09 TCGA-A7-A3J1-10A-01D-A20S-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ce9601e-907b-4ab4-b0c6-4f0a1b2b9011 bcb23fdf-5ae8-4659-8e65-1f8a7f0b44ea 1 12939782 12939782 A G SNP PRAMEF4 ENST00000235349 human ensembl 69_37n -1 known silent c.1020 p.L340 0.000 NULL NULL - no_errors PRAMEF4 HGNC ENSG00000243073 39 0 0.00 44 6 12.00 - - - RPS6KL1 0 genome.wustl.edu 37 14 75375556 75375556 + Missense_Mutation SNP T T G TCGA-A7-A3J1-01A-11D-A20S-09 TCGA-A7-A3J1-10A-01D-A20S-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ce9601e-907b-4ab4-b0c6-4f0a1b2b9011 bcb23fdf-5ae8-4659-8e65-1f8a7f0b44ea 14 75375556 75375556 T G SNP RPS6KL1 ENST00000553971 human ensembl 69_37n -1 novel missense c.199 p.N67H 0.897 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_cat_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region RPS6KL1 HGNC ENSG00000198208 15 0 0.00 12 10 45.45 - - - SERPINA4 0 genome.wustl.edu 37 14 95029840 95029840 + Silent SNP G G T TCGA-A7-A3J1-01A-11D-A20S-09 TCGA-A7-A3J1-10A-01D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ce9601e-907b-4ab4-b0c6-4f0a1b2b9011 bcb23fdf-5ae8-4659-8e65-1f8a7f0b44ea 14 95029840 95029840 G T SNP SERPINA4 ENST00000298841 human ensembl 69_37n +1 known silent c.21 p.L7 0.199 superfamily_Sepin_dom pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom - no_errors SERPINA4 HGNC ENSG00000100665 30 0 0.00 17 3 15.00 - - - SGSM1 0 genome.wustl.edu 37 22 25280109 25280109 + Missense_Mutation SNP G G A TCGA-A7-A3J1-01A-11D-A20S-09 TCGA-A7-A3J1-10A-01D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ce9601e-907b-4ab4-b0c6-4f0a1b2b9011 bcb23fdf-5ae8-4659-8e65-1f8a7f0b44ea 22 25280109 25280109 G A SNP SGSM1 ENST00000400359 human ensembl 69_37n +1 known missense c.1750 p.D584N 1.000 NULL pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom - no_errors SGSM1 HGNC ENSG00000167037 32 0 0.00 27 8 22.86 - - - SLC35F1 0 genome.wustl.edu 37 6 118475629 118475629 + Silent SNP C C T TCGA-A7-A3J1-01A-11D-A20S-09 TCGA-A7-A3J1-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ce9601e-907b-4ab4-b0c6-4f0a1b2b9011 bcb23fdf-5ae8-4659-8e65-1f8a7f0b44ea 6 118475629 118475629 C T SNP SLC35F1 ENST00000360388 human ensembl 69_37n +1 known silent c.195 p.A65 0.996 pfam_DUF914_euk pfam_DUF914_euk,pfam_DMT - no_errors SLC35F1 HGNC ENSG00000196376 49 0 0.00 32 16 33.33 - - - SLCO1B7 0 genome.wustl.edu 37 12 21168661 21168661 + Missense_Mutation SNP G G T TCGA-A7-A3J1-01A-11D-A20S-09 TCGA-A7-A3J1-10A-01D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ce9601e-907b-4ab4-b0c6-4f0a1b2b9011 bcb23fdf-5ae8-4659-8e65-1f8a7f0b44ea 12 21168661 21168661 G T SNP SLCO1B7 ENST00000421593 human ensembl 69_37n +1 known missense c.32 p.R11I 1.000 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1B7 HGNC ENSG00000205754 32 0 0.00 17 4 19.05 - - - TRBV29-1 0 genome.wustl.edu 37 7 142448463 142448463 + Silent SNP C C T TCGA-A7-A3J1-01A-11D-A20S-09 TCGA-A7-A3J1-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ce9601e-907b-4ab4-b0c6-4f0a1b2b9011 bcb23fdf-5ae8-4659-8e65-1f8a7f0b44ea 7 142448463 142448463 C T SNP TRBV29-1 ENST00000422143 human ensembl 69_37n +1 known silent c.57 p.I19 0.067 pfscan_Ig-like pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon:bad_bp_length_for_coding_region TRBV29-1 HGNC ENSG00000232869 57 0 0.00 42 20 32.26 - - - TSTD2 0 genome.wustl.edu 37 9 100368543 100368543 + Missense_Mutation SNP C C T TCGA-A7-A3J1-01A-11D-A20S-09 TCGA-A7-A3J1-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ce9601e-907b-4ab4-b0c6-4f0a1b2b9011 bcb23fdf-5ae8-4659-8e65-1f8a7f0b44ea 9 100368543 100368543 C T SNP TSTD2 ENST00000341170 human ensembl 69_37n -1 known missense c.836 p.G279E 1.000 superfamily_Rhodanese-like_dom pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom - no_errors TSTD2 HGNC ENSG00000136925 47 0 0.00 31 9 22.50 - - - USP8 0 genome.wustl.edu 37 15 50782481 50782481 + Missense_Mutation SNP A A C TCGA-A7-A3J1-01A-11D-A20S-09 TCGA-A7-A3J1-10A-01D-A20S-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ce9601e-907b-4ab4-b0c6-4f0a1b2b9011 bcb23fdf-5ae8-4659-8e65-1f8a7f0b44ea 15 50782481 50782481 A C SNP USP8 ENST00000307179 human ensembl 69_37n +1 known missense c.1993 p.T665P 1.000 superfamily_WW_Rsp5_WWP pfam_Peptidase_C19,pfam_DUF1873,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_WW_Rsp5_WWP,pfscan_Rhodanese-like_dom,pfscan_Peptidase_C19 - no_errors USP8 HGNC ENSG00000138592 21 0 0.00 7 7 50.00 - - - VEGFC 0 genome.wustl.edu 37 4 177713372 177713373 + In_Frame_Ins INS - - GGC TCGA-A7-A3J1-01A-11D-A20S-09 TCGA-A7-A3J1-10A-01D-A20S-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ce9601e-907b-4ab4-b0c6-4f0a1b2b9011 bcb23fdf-5ae8-4659-8e65-1f8a7f0b44ea 4 177713372 177713373 - GGC INS VEGFC ENST00000280193 human ensembl 69_37n -1 known in_frame_ins c.94_93 p.31in_frame_insA 0.904:0.984 NULL pfam_PD_growth_factor,pfam_CXCXC_repeat,smart_PD_growth_factor,pfscan_PD_growth_factor - no_errors VEGFC HGNC ENSG00000150630 18 0 0.00 29 13 30.95 - - - YY1AP1 0 genome.wustl.edu 37 1 155644863 155644863 + Missense_Mutation SNP G G A TCGA-A7-A3J1-01A-11D-A20S-09 TCGA-A7-A3J1-10A-01D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ce9601e-907b-4ab4-b0c6-4f0a1b2b9011 bcb23fdf-5ae8-4659-8e65-1f8a7f0b44ea 1 155644863 155644863 G A SNP YY1AP1 ENST00000368339 human ensembl 69_37n -1 known missense c.763 p.H255Y 1.000 NULL NULL - no_errors YY1AP1 HGNC ENSG00000163374 50 0 0.00 51 27 34.62 - - - ZNF252P-AS1 0 genome.wustl.edu 37 8 146228779 146228779 + RNA SNP T T A TCGA-A7-A3J1-01A-11D-A20S-09 TCGA-A7-A3J1-10A-01D-A20S-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ce9601e-907b-4ab4-b0c6-4f0a1b2b9011 bcb23fdf-5ae8-4659-8e65-1f8a7f0b44ea 8 146228779 146228779 T A SNP ZNF252P-AS1 ENST00000527067 human ensembl 69_37n +1 known rna NULL NULL 0.848 - - - no_errors ZNF252P-AS1 HGNC ENSG00000255559 29 0 0.00 31 4 11.43 - - - ZNF540 0 genome.wustl.edu 37 19 38090640 38090640 + Missense_Mutation SNP C C A TCGA-A7-A3J1-01A-11D-A20S-09 TCGA-A7-A3J1-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ce9601e-907b-4ab4-b0c6-4f0a1b2b9011 bcb23fdf-5ae8-4659-8e65-1f8a7f0b44ea 19 38090640 38090640 C A SNP ZNF540 ENST00000316433 human ensembl 69_37n +1 known missense c.123 p.N41K 0.008 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF540 HGNC ENSG00000171817 27 0 0.00 20 7 25.93 - - -