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 default_gene_name gene_name_source ABCC5 10057 genome.wustl.edu 37 3 183669264 183669264 + Missense_Mutation SNP C C A TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 3 183669264 183669264 C A SNP ABCC5 ENST00000334444 human ensembl 70_37 -1 known missense c.2909 p.R970M 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCC5 HGNC ADAMTS18 170692 genome.wustl.edu 37 16 77331190 77331190 + Missense_Mutation SNP C C A TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 16 77331190 77331190 C A SNP ADAMTS18 ENST00000282849 human ensembl 70_37 -1 known missense c.2797 p.A933S 1.000 superfamily_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS18 HGNC ADAMTS2 9509 genome.wustl.edu 37 5 178559250 178559250 + Silent SNP G G A TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 5 178559250 178559250 G A SNP ADAMTS2 ENST00000251582 human ensembl 70_37 -1 known silent c.2271 p.D757 0.377 pfam_ADAM_spacer1 pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS2 HGNC AFAP1 60312 genome.wustl.edu 37 4 7873707 7873707 + Missense_Mutation SNP G G T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 4 7873707 7873707 G T SNP AFAP1 ENST00000420658 human ensembl 70_37 -1 known missense c.99 p.N33K 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors AFAP1 HGNC ATAD2 29028 genome.wustl.edu 37 8 124382158 124382159 + In_Frame_Ins INS - - TCA TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 8 124382158 124382159 - TCA INS ATAD2 ENST00000287394 human ensembl 70_37 -1 known in_frame_ins c.834_833 p.278in_frame_insD 0.866:0.899 NULL pfam_ATPase_AAA_core,pfam_Bromodomain,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors ATAD2 HGNC ATP8A1 10396 genome.wustl.edu 37 4 42554617 42554617 + Missense_Mutation SNP G G T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 4 42554617 42554617 G T SNP ATP8A1 ENST00000381668 human ensembl 70_37 -1 known missense c.1424 p.P475H 1.000 superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP8A1 HGNC B3GALT5 10317 genome.wustl.edu 37 21 41032526 41032526 + Missense_Mutation SNP C C A TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 21 41032526 41032526 C A SNP B3GALT5 ENST00000343118 human ensembl 70_37 +1 known missense c.40 p.L14M 0.000 NULL pfam_Glyco_trans_31 - no_errors B3GALT5 HGNC BCR 613 genome.wustl.edu 37 22 23658000 23658000 + RNA SNP G G A TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 22 23658000 23658000 G A SNP BCR ENST00000436990 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors BCR HGNC C3 718 genome.wustl.edu 37 19 6696657 6696657 + Missense_Mutation SNP C C A TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 19 6696657 6696657 C A SNP C3 ENST00000245907 human ensembl 70_37 -1 known missense c.2810 p.R937I 0.000 NULL pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn - no_errors C3 HGNC CACNA1C 775 genome.wustl.edu 37 12 2794937 2794937 + Missense_Mutation SNP C C T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 12 2794937 2794937 C T SNP CACNA1C ENST00000399634 human ensembl 70_37 +1 known missense c.5822 p.T1941M 0.939 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC CCNB3 85417 genome.wustl.edu 37 X 50051745 50051745 + Silent SNP G G A TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c X 50051745 50051745 G A SNP CCNB3 ENST00000276014 human ensembl 70_37 +1 known silent c.576 p.K192 0.002 NULL pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNB3 HGNC CELSR3 1951 genome.wustl.edu 37 3 48697842 48697842 + Silent SNP G G A TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 3 48697842 48697842 G A SNP CELSR3 ENST00000544264 human ensembl 70_37 -1 known silent c.2226 p.V742 0.995 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR3 HGNC CEP57 9702 genome.wustl.edu 37 11 95532468 95532468 + Missense_Mutation SNP C C A TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 11 95532468 95532468 C A SNP CEP57 ENST00000325542 human ensembl 70_37 +1 known missense c.118 p.P40T 1.000 NULL pfam_Cep57_MT-bd_dom - no_errors CEP57 HGNC CHD1L 9557 genome.wustl.edu 37 1 146767152 146767152 + Nonsense_Mutation SNP C C T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 1 146767152 146767152 C T SNP CHD1L ENST00000369258 human ensembl 70_37 +1 known nonsense c.2656 p.Q886* 0.379 pfscan_A1pp 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 COL12A1 1303 genome.wustl.edu 37 6 75816178 75816178 + Missense_Mutation SNP G G A TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 6 75816178 75816178 G A SNP COL12A1 ENST00000322507 human ensembl 70_37 -1 known missense c.8135 p.P2712L 0.972 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC COL17A1 1308 genome.wustl.edu 37 10 105797434 105797434 + Missense_Mutation SNP G G T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 10 105797434 105797434 G T SNP COL17A1 ENST00000353479 human ensembl 70_37 -1 known missense c.3168 p.D1056E 0.996 NULL pfam_Collagen - no_errors COL17A1 HGNC COL18A1 80781 genome.wustl.edu 37 21 46888226 46888226 + Silent SNP G G A TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 21 46888226 46888226 G A SNP COL18A1 ENST00000359759 human ensembl 70_37 +1 known silent c.1422 p.T474 0.000 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom - no_errors COL18A1 HGNC COL6A5 256076 genome.wustl.edu 37 3 130095513 130095513 + Silent SNP G G T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 3 130095513 130095513 G T SNP COL6A5 ENST00000265379 human ensembl 70_37 +1 known silent c.501 p.V167 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A5 HGNC CR2 1380 genome.wustl.edu 37 1 207642171 207642171 + Frame_Shift_Del DEL T T - TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 1 207642171 207642171 T - DEL CR2 ENST00000367057 human ensembl 70_37 +1 known frame_shift_del c.661 p.N223fs 0.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR2 HGNC CTNNA2 1496 genome.wustl.edu 37 2 80816449 80816449 + Silent SNP G G A TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 2 80816449 80816449 G A SNP CTNNA2 ENST00000361291 human ensembl 70_37 +1 known silent c.2130 p.P710 0.133 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA2 HGNC CTNNA3 29119 genome.wustl.edu 37 10 68940115 68940115 + Missense_Mutation SNP C C T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 10 68940115 68940115 C T SNP CTNNA3 ENST00000373744 human ensembl 70_37 -1 known missense c.1007 p.R336H 1.000 pfam_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA3 HGNC DACH2 117154 genome.wustl.edu 37 X 85997720 85997720 + Missense_Mutation SNP G G T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c X 85997720 85997720 G T SNP DACH2 ENST00000461604 human ensembl 70_37 +1 known missense c.1315 p.D439Y 1.000 NULL pfam_Transform_Ski,superfamily_DNA-bd_dom_put - no_errors DACH2 HGNC DMXL1 1657 genome.wustl.edu 37 5 118483070 118483070 + Missense_Mutation SNP G G T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 5 118483070 118483070 G T SNP DMXL1 ENST00000539542 human ensembl 70_37 +1 known missense c.2816 p.S939I 1.000 superfamily_WD40_repeat_dom pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL1 HGNC DNAH9 1770 genome.wustl.edu 37 17 11835466 11835466 + Nonsense_Mutation SNP G G T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 17 11835466 11835466 G T SNP DNAH9 ENST00000262442 human ensembl 70_37 +1 known nonsense c.12241 p.G4081* 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH9 HGNC DOT1L 84444 genome.wustl.edu 37 19 2217769 2217769 + Splice_Site SNP A A G TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 19 2217769 2217769 A G SNP DOT1L ENST00000398665 human ensembl 70_37 +1 known splice_site c.2545-2 e22-2 1.000 - - - no_errors DOT1L HGNC DPP10 57628 genome.wustl.edu 37 2 116101413 116101413 + Nonsense_Mutation SNP G G T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 2 116101413 116101413 G T SNP DPP10 ENST00000393147 human ensembl 70_37 +1 known nonsense c.208 p.E70* 1.000 NULL pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors DPP10 HGNC ENSG00000252430 0 genome.wustl.edu 37 X 98640203 98640203 + RNA SNP G G T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c X 98640203 98640203 G T SNP ENSG00000252430 ENST00000516621 human ensembl 70_37 -1 novel rna NULL NULL 0.007 - - - no_errors AL109750.1 Clone_based_ensembl_gene ENSG00000264558 0 genome.wustl.edu 37 17 45759980 45759980 + RNA SNP C C G TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 17 45759980 45759980 C G SNP ENSG00000264558 ENST00000578482 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-138C9.1 Clone_based_vega_gene EPC1 80314 genome.wustl.edu 37 10 32667508 32667508 + RNA SNP C C A TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 10 32667508 32667508 C A SNP EPC1 ENST00000462470 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors EPC1 HGNC FAM124B 79843 genome.wustl.edu 37 2 225244417 225244417 + Missense_Mutation SNP C C A TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 2 225244417 225244417 C A SNP FAM124B ENST00000409685 human ensembl 70_37 -1 known missense c.1241 p.R414I 0.769 NULL NULL - no_errors FAM124B HGNC FEZ1 9638 genome.wustl.edu 37 11 125351442 125351442 + Nonsense_Mutation SNP G G T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 11 125351442 125351442 G T SNP FEZ1 ENST00000278919 human ensembl 70_37 -1 known nonsense c.399 p.C133* 1.000 pfam_FEZ pfam_FEZ - no_errors FEZ1 HGNC FH 2271 genome.wustl.edu 37 1 241680522 241680522 + Missense_Mutation SNP G G A TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 1 241680522 241680522 G A SNP FH ENST00000366560 human ensembl 70_37 -1 known missense c.227 p.T76M 1.000 pfam_Lyase1_N,superfamily_L-Aspartase-like,tigrfam_Fum_hydII pfam_Lyase1_N,pfam_Fumarase_C_C,superfamily_L-Aspartase-like,prints_Fumarate_lyase,tigrfam_Fum_hydII - no_errors FH HGNC FLNC 2318 genome.wustl.edu 37 7 128480702 128480702 + Silent SNP G G A TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 7 128480702 128480702 G A SNP FLNC ENST00000325888 human ensembl 70_37 +1 known silent c.1650 p.T550 0.001 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNC HGNC FOXG1 2290 genome.wustl.edu 37 14 29236510 29236510 + Missense_Mutation SNP G G C TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 14 29236510 29236510 G C SNP FOXG1 ENST00000313071 human ensembl 70_37 +1 known missense c.25 p.E9Q 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXG1 HGNC GAN 8139 genome.wustl.edu 37 16 81411053 81411053 + Missense_Mutation SNP G G T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 16 81411053 81411053 G T SNP GAN ENST00000248272 human ensembl 70_37 +1 known missense c.1646 p.R549I 0.999 smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors GAN HGNC GAPVD1 26130 genome.wustl.edu 37 9 128064910 128064910 + Missense_Mutation SNP T T G TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 9 128064910 128064910 T G SNP GAPVD1 ENST00000394105 human ensembl 70_37 +1 known missense c.834 p.H278Q 0.999 pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,pfscan_RasGAP pfam_RasGAP,pfam_VPS9,superfamily_Rho_GTPase_activation_prot,smart_VPS9_subgr,pfscan_VPS9,pfscan_RasGAP - no_errors GAPVD1 HGNC GIMAP1 170575 genome.wustl.edu 37 7 150417617 150417617 + Silent SNP C C T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 7 150417617 150417617 C T SNP GIMAP1 ENST00000307194 human ensembl 70_37 +1 known silent c.525 p.R175 0.000 pfam_AIG1 pfam_AIG1 - no_errors GIMAP1 HGNC GLIS1 148979 genome.wustl.edu 37 1 53980322 53980322 + Missense_Mutation SNP G G T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 1 53980322 53980322 G T SNP GLIS1 ENST00000312233 human ensembl 70_37 -1 known missense c.1334 p.P445H 0.974 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLIS1 HGNC GLRA3 8001 genome.wustl.edu 37 4 175598419 175598419 + Missense_Mutation SNP C C T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 4 175598419 175598419 C T SNP GLRA3 ENST00000274093 human ensembl 70_37 -1 known missense c.737 p.R246Q 0.998 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_Glycine_rcpt_A3,prints_Glycine_rcpt_A,prints_Neur_channel,tigrfam_Neur_channel - no_errors GLRA3 HGNC GOLGA2P5 55592 genome.wustl.edu 37 12 100562920 100562921 + RNA INS - - T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 12 100562920 100562921 - T INS GOLGA2P5 ENST00000421840 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors GOLGA2B Clone_based_vega_gene GOLGA3 2802 genome.wustl.edu 37 12 133372557 133372557 + Missense_Mutation SNP C C T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 12 133372557 133372557 C T SNP GOLGA3 ENST00000204726 human ensembl 70_37 -1 known missense c.2350 p.A784T 1.000 NULL superfamily_Prefoldin - no_errors GOLGA3 HGNC GOLGA4 2803 genome.wustl.edu 37 3 37337603 37337603 + Missense_Mutation SNP G G T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 3 37337603 37337603 G T SNP GOLGA4 ENST00000361924 human ensembl 70_37 +1 known missense c.707 p.R236L 0.999 superfamily_Prefoldin pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,superfamily_t-SNARE,superfamily_Prefoldin,smart_GRIP,pfscan_GRIP - no_errors GOLGA4 HGNC GOLGA6L2 283685 genome.wustl.edu 37 15 23685343 23685343 + Missense_Mutation SNP T T C TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 15 23685343 23685343 T C SNP GOLGA6L2 ENST00000567107 human ensembl 70_37 -1 putative missense c.2279 p.E760G 0.000 NULL NULL - no_errors GOLGA6L2 HGNC GOLGA6L2 283685 genome.wustl.edu 37 15 23685943 23685943 + Missense_Mutation SNP C C T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 15 23685943 23685943 C T SNP GOLGA6L2 ENST00000567107 human ensembl 70_37 -1 putative missense c.1679 p.G560E 0.000 NULL NULL - no_errors GOLGA6L2 HGNC GRXCR1 389207 genome.wustl.edu 37 4 42895397 42895397 + Silent SNP G G A TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 4 42895397 42895397 G A SNP GRXCR1 ENST00000399770 human ensembl 70_37 +1 known silent c.114 p.P38 0.000 NULL pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold,superfamily_HSP_DnaJ_Cys-rich_dom - no_errors GRXCR1 HGNC HCN4 10021 genome.wustl.edu 37 15 73659973 73659973 + Silent SNP G G A TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 15 73659973 73659973 G A SNP HCN4 ENST00000261917 human ensembl 70_37 -1 known silent c.639 p.F213 1.000 NULL pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN4 HGNC HEXB 3074 genome.wustl.edu 37 5 74011394 74011394 + Missense_Mutation SNP C C T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 5 74011394 74011394 C T SNP HEXB ENST00000261416 human ensembl 70_37 +1 known missense c.961 p.P321S 1.000 pfam_Glyco_hydro_20_cat-core,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_20_cat-core,pfam_Glyco_hydro_20b,superfamily_Glycoside_hydrolase_SF,prints_Beta_hexosaminidase_sua/sub - no_errors HEXB HGNC HMHA1 23526 genome.wustl.edu 37 19 1073273 1073273 + Missense_Mutation SNP C C G TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 19 1073273 1073273 C G SNP HMHA1 ENST00000313093 human ensembl 70_37 +1 known missense c.547 p.L183V 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_FCH,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors HMHA1 HGNC HSPB7 27129 genome.wustl.edu 37 1 16342139 16342139 + Missense_Mutation SNP C C T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 1 16342139 16342139 C T SNP HSPB7 ENST00000487046 human ensembl 70_37 -1 known missense c.464 p.R155Q 0.994 pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom,prints_Alpha-crystallin/HSP pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom,prints_Alpha-crystallin/HSP - no_errors HSPB7 HGNC IFLTD1 160492 genome.wustl.edu 37 12 25679784 25679784 + Silent SNP G G T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 12 25679784 25679784 G T SNP IFLTD1 ENST00000458174 human ensembl 70_37 -1 known silent c.597 p.L199 0.986 pfam_Lamin_tail_dom pfam_Lamin_tail_dom - no_errors IFLTD1 HGNC IGFL3 388555 genome.wustl.edu 37 19 46627378 46627378 + Missense_Mutation SNP G G A TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 19 46627378 46627378 G A SNP IGFL3 ENST00000341415 human ensembl 70_37 -1 known missense c.115 p.P39S 0.231 NULL NULL - no_errors IGFL3 HGNC IL12RB2 3595 genome.wustl.edu 37 1 67787470 67787470 + Missense_Mutation SNP C C A TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 1 67787470 67787470 C A SNP IL12RB2 ENST00000262345 human ensembl 70_37 +1 known missense c.262 p.Q88K 0.665 pfam_IgC2-like_lig-bd pfam_Fibronectin_type3,pfam_IgC2-like_lig-bd,pfam_IL6_recept-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL12RB2 HGNC IL7 3574 genome.wustl.edu 37 8 79648739 79648739 + Silent SNP G G A TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 8 79648739 79648739 G A SNP IL7 ENST00000263851 human ensembl 70_37 -1 known silent c.384 p.A128 0.001 pfam_Interleukin_7_9,smart_Interleukin-7,pirsf_Interleukin-7 pfam_Interleukin_7_9,smart_Interleukin-7,pirsf_Interleukin-7,prints_Interleukin-7 - no_errors IL7 HGNC KCNA3 3738 genome.wustl.edu 37 1 111217029 111217029 + Missense_Mutation SNP G G A TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 1 111217029 111217029 G A SNP KCNA3 ENST00000369769 human ensembl 70_37 -1 known missense c.403 p.R135W 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv1.3,prints_K_chnl_volt-dep_Kv1 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.3,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA3 HGNC KCNC3 3748 genome.wustl.edu 37 19 50832047 50832047 + Missense_Mutation SNP C C T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 19 50832047 50832047 C T SNP KCNC3 ENST00000477616 human ensembl 70_37 -1 known missense c.293 p.R98H 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,pfam_K_chnl_volt-dep_Kv3_ID,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3.3,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv - no_errors KCNC3 HGNC KCNS3 3790 genome.wustl.edu 37 2 18112978 18112978 + Missense_Mutation SNP G G A TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 2 18112978 18112978 G A SNP KCNS3 ENST00000304101 human ensembl 70_37 +1 known missense c.703 p.G235R 0.043 pfam_Ion_trans_dom,prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv2 - no_errors KCNS3 HGNC KIAA1279 26128 genome.wustl.edu 37 10 70775886 70775886 + Missense_Mutation SNP C C T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 10 70775886 70775886 C T SNP KIAA1279 ENST00000361983 human ensembl 70_37 +1 known missense c.1580 p.P527L 1.000 pfam_KBP pfam_KBP - no_errors KIAA1279 HGNC KLC4 89953 genome.wustl.edu 37 6 43040984 43040984 + Missense_Mutation SNP G G T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 6 43040984 43040984 G T SNP KLC4 ENST00000259708 human ensembl 70_37 +1 known missense c.1707 p.R569S 1.000 NULL pfam_Rabaptin_Rab5-bd_dom,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Kinesin_light - no_errors KLC4 HGNC KLHL1 57626 genome.wustl.edu 37 13 70281894 70281894 + Missense_Mutation SNP C C A TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 13 70281894 70281894 C A SNP KLHL1 ENST00000377844 human ensembl 70_37 -1 known missense c.2050 p.A684S 1.000 pfam_Kelch_1,smart_Kelch_1 pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL1 HGNC L3MBTL2 83746 genome.wustl.edu 37 22 41621884 41621884 + Silent SNP C C T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 22 41621884 41621884 C T SNP L3MBTL2 ENST00000216237 human ensembl 70_37 +1 known silent c.1443 p.S481 0.998 pfam_Mbt,smart_Mbt,pfscan_Mbt pfam_Mbt,smart_Mbt,pfscan_Mbt,pfscan_Znf_FCS - no_errors L3MBTL2 HGNC LOC440570 440570 genome.wustl.edu 37 1 17198146 17198147 + RNA DEL AC AC - TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 1 17198146 17198147 AC - DEL LOC440570 ENST00000438002 human ensembl 70_37 +1 known rna NULL NULL 0.006:0.006 - - - no_errors RP11-108M9.3 Clone_based_vega_gene LRIT2 340745 genome.wustl.edu 37 10 85985198 85985198 + Nonsense_Mutation SNP C C A TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 10 85985198 85985198 C A SNP LRIT2 ENST00000538192 human ensembl 70_37 -1 known nonsense c.79 p.G27* 0.601 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LRIT2 HGNC MAEL 84944 genome.wustl.edu 37 1 166959175 166959175 + RNA SNP G G A TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 1 166959175 166959175 G A SNP MAEL ENST00000491055 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MAEL HGNC MAN1B1 11253 genome.wustl.edu 37 9 139994205 139994205 + Missense_Mutation SNP G G A TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 9 139994205 139994205 G A SNP MAN1B1 ENST00000371589 human ensembl 70_37 +1 known missense c.788 p.G263E 0.997 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors MAN1B1 HGNC MAP3K1 4214 genome.wustl.edu 37 5 56174810 56174810 + Missense_Mutation SNP A A G TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 5 56174810 56174810 A G SNP MAP3K1 ENST00000399503 human ensembl 70_37 +1 novel missense c.1969 p.T657A 1.000 superfamily_ARM-type_fold pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom - no_errors MAP3K1 HGNC MIR29C 407026 genome.wustl.edu 37 1 207975270 207975270 + RNA SNP G G T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 1 207975270 207975270 G T SNP MIR29C ENST00000385231 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors MIR29C HGNC MLIP 90523 genome.wustl.edu 37 6 54002030 54002030 + Missense_Mutation SNP C C T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 6 54002030 54002030 C T SNP MLIP ENST00000502396 human ensembl 70_37 +1 putative missense c.1163 p.S388F 0.933 NULL NULL - no_errors MLIP HGNC MPDZ 8777 genome.wustl.edu 37 9 13193262 13193262 + Silent SNP C C A TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 9 13193262 13193262 C A SNP MPDZ ENST00000319217 human ensembl 70_37 -1 known silent c.1707 p.L569 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors MPDZ HGNC MUC5B 727897 genome.wustl.edu 37 11 1265999 1265999 + Missense_Mutation SNP T T C TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 11 1265999 1265999 T C SNP MUC5B ENST00000447027 human ensembl 70_37 +1 known missense c.7898 p.L2633P 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC MUM1L1 139221 genome.wustl.edu 37 X 105450199 105450199 + Silent SNP C C T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c X 105450199 105450199 C T SNP MUM1L1 ENST00000337685 human ensembl 70_37 +1 known silent c.774 p.S258 0.000 NULL superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors MUM1L1 HGNC MYH4 4622 genome.wustl.edu 37 17 10353794 10353794 + Missense_Mutation SNP C C T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 17 10353794 10353794 C T SNP MYH4 ENST00000255381 human ensembl 70_37 -1 known missense c.4157 p.R1386H 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH4 HGNC MYO16 23026 genome.wustl.edu 37 13 109831945 109831945 + Silent SNP G G T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 13 109831945 109831945 G T SNP MYO16 ENST00000356711 human ensembl 70_37 +1 known silent c.5313 p.S1771 0.000 NULL pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO16 HGNC MYO9B 4650 genome.wustl.edu 37 19 17323012 17323012 + Missense_Mutation SNP G G A TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 19 17323012 17323012 G A SNP MYO9B ENST00000594824 human ensembl 70_37 +1 known missense c.6367 p.A2123T 0.000 NULL pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom - no_errors MYO9B HGNC MYSM1 114803 genome.wustl.edu 37 1 59158365 59158365 + RNA SNP G G A TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 1 59158365 59158365 G A SNP MYSM1 ENST00000489282 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors MYSM1 HGNC NFXL1 152518 genome.wustl.edu 37 4 47880600 47880600 + Missense_Mutation SNP G G T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 4 47880600 47880600 G T SNP NFXL1 ENST00000381538 human ensembl 70_37 -1 known missense c.2021 p.T674K 0.810 NULL pfam_Znf_NFX1,smart_Znf_NFX1,pfscan_Znf_RING - no_errors NFXL1 HGNC NKAIN2 154215 genome.wustl.edu 37 6 124604274 124604274 + Missense_Mutation SNP C C T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 6 124604274 124604274 C T SNP NKAIN2 ENST00000368417 human ensembl 70_37 +1 known missense c.178 p.R60C 1.000 pfam_Na/K-Atpase_Interacting pfam_Na/K-Atpase_Interacting - no_errors NKAIN2 HGNC PCNXL2 80003 genome.wustl.edu 37 1 233152734 233152734 + Missense_Mutation SNP A A G TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 1 233152734 233152734 A G SNP PCNXL2 ENST00000258229 human ensembl 70_37 -1 known missense c.4772 p.I1591T 0.935 NULL pfam_Pecanex,superfamily_Pept_cys/ser_Trypsin-like - no_errors PCNXL2 HGNC PIK3CA 5290 genome.wustl.edu 37 3 178936082 178936082 + Missense_Mutation SNP G G A TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 3 178936082 178936082 G A SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.1624 p.E542K 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 PJA2 9867 genome.wustl.edu 37 5 108714347 108714347 + Missense_Mutation SNP G G T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 5 108714347 108714347 G T SNP PJA2 ENST00000361189 human ensembl 70_37 -1 known missense c.841 p.H281N 0.645 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PJA2 HGNC PLCE1 51196 genome.wustl.edu 37 10 96081752 96081752 + Missense_Mutation SNP C C A TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 10 96081752 96081752 C A SNP PLCE1 ENST00000371380 human ensembl 70_37 +1 known missense c.6437 p.P2146Q 1.000 pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,smart_Ras-assoc,pfscan_C2_membr_targeting,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C - no_errors PLCE1 HGNC PNISR 25957 genome.wustl.edu 37 6 99857071 99857071 + Silent SNP C C A TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 6 99857071 99857071 C A SNP PNISR ENST00000369239 human ensembl 70_37 -1 known silent c.651 p.V217 1.000 NULL NULL - no_errors PNISR HGNC PNMA3 29944 genome.wustl.edu 37 X 152226470 152226470 + Missense_Mutation SNP C C T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c X 152226470 152226470 C T SNP PNMA3 ENST00000370264 human ensembl 70_37 +1 known missense c.1058 p.A353V 0.000 NULL superfamily_Znf_CCHC,pfscan_Znf_CCHC - no_errors PNMA3 HGNC POMC 5443 genome.wustl.edu 37 2 25384145 25384145 + Silent SNP G G A TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 2 25384145 25384145 G A SNP POMC ENST00000264708 human ensembl 70_37 -1 known silent c.609 p.A203 0.153 NULL pfam_Mcrtin_ACTH_cent,pfam_Melanocortin_N,pfam_Opioid_neuropept,prints_Mcortin_ACTH - no_errors POMC HGNC PRRC2C 23215 genome.wustl.edu 37 1 171504696 171504696 + Missense_Mutation SNP A A T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 1 171504696 171504696 A T SNP PRRC2C ENST00000392078 human ensembl 70_37 +1 known missense c.2003 p.Q668L 1.000 NULL pfam_BAT2_N - no_errors PRRC2C HGNC PTCH1 5727 genome.wustl.edu 37 9 98209303 98209303 + Missense_Mutation SNP G G T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 9 98209303 98209303 G T SNP PTCH1 ENST00000331920 human ensembl 70_37 -1 known missense c.4235 p.P1412H 1.000 NULL pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH1 HGNC RAB33B 83452 genome.wustl.edu 37 4 140393933 140393933 + Missense_Mutation SNP G G A TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 4 140393933 140393933 G A SNP RAB33B ENST00000305626 human ensembl 70_37 +1 known missense c.343 p.D115N 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB33B HGNC RABL5 64792 genome.wustl.edu 37 7 100959676 100959676 + Missense_Mutation SNP C C T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 7 100959676 100959676 C T SNP RABL5 ENST00000315322 human ensembl 70_37 -1 known missense c.354 p.M118I 0.132 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_MIRO-like,pfam_SRP_receptor_beta_su - no_errors RABL5 HGNC RASAL3 64926 genome.wustl.edu 37 19 15575085 15575085 + Missense_Mutation SNP C C T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 19 15575085 15575085 C T SNP RASAL3 ENST00000343625 human ensembl 70_37 -1 known missense c.85 p.G29S 0.000 NULL pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RasGAP,pfscan_RasGAP - no_errors RASAL3 HGNC RNF213 57674 genome.wustl.edu 37 17 78360193 78360193 + Missense_Mutation SNP G G T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 17 78360193 78360193 G T SNP RNF213 ENST00000582970 human ensembl 70_37 +1 known missense c.14683 p.V4895F 0.055 NULL smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC RNPC3 55599 genome.wustl.edu 37 1 104085920 104085920 + Splice_Site SNP G G T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 1 104085920 104085920 G T SNP RNPC3 ENST00000524631 human ensembl 70_37 +1 novel splice_site c.894-1 e9-1 0.715 - - - no_errors RNPC3 HGNC RSG1 79363 genome.wustl.edu 37 1 16558560 16558560 + Missense_Mutation SNP C C T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 1 16558560 16558560 C T SNP RSG1 ENST00000375599 human ensembl 70_37 -1 known missense c.760 p.E254K 0.140 NULL pfam_MIRO-like,pfam_Small_GTPase,prints_Small_GTPase - no_errors RSG1 HGNC RSRC2 65117 genome.wustl.edu 37 12 122995725 122995725 + Missense_Mutation SNP C C A TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 12 122995725 122995725 C A SNP RSRC2 ENST00000331738 human ensembl 70_37 -1 known missense c.736 p.A246S 1.000 NULL NULL - no_errors RSRC2 HGNC RYR2 6262 genome.wustl.edu 37 1 237729972 237729972 + Missense_Mutation SNP C C T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 1 237729972 237729972 C T SNP RYR2 ENST00000360064 human ensembl 70_37 +1 known missense c.3314 p.T1105M 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR2 HGNC SCARF1 8578 genome.wustl.edu 37 17 1538767 1538767 + Missense_Mutation SNP G G A TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 17 1538767 1538767 G A SNP SCARF1 ENST00000263071 human ensembl 70_37 -1 known missense c.1778 p.A593V 1.000 NULL pfam_EGF_laminin,superfamily_Growth_fac_rcpt,smart_EG-like_dom,pfscan_EG-like_dom - no_errors SCARF1 HGNC SDCBP 6386 genome.wustl.edu 37 8 59484844 59484844 + Missense_Mutation SNP G G T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 8 59484844 59484844 G T SNP SDCBP ENST00000260130 human ensembl 70_37 +1 known missense c.211 p.A71S 0.888 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SDCBP HGNC SEC31B 25956 genome.wustl.edu 37 10 102247514 102247514 + Silent SNP G G T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 10 102247514 102247514 G T SNP SEC31B ENST00000370345 human ensembl 70_37 -1 known silent c.3399 p.A1133 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SEC31B HGNC SGIP1 84251 genome.wustl.edu 37 1 67109411 67109412 + RNA DEL TG TG - TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 TG TG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 1 67109411 67109412 TG - DEL SGIP1 ENST00000483060 human ensembl 70_37 +1 known rna NULL NULL 0.058:0.051 - - - no_errors SGIP1 HGNC SGPL1 8879 genome.wustl.edu 37 10 72614556 72614556 + Missense_Mutation SNP C C A TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 10 72614556 72614556 C A SNP SGPL1 ENST00000373202 human ensembl 70_37 +1 known missense c.353 p.S118Y 0.354 superfamily_PyrdxlP-dep_Trfase_major_dom pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors SGPL1 HGNC SHC2 25759 genome.wustl.edu 37 19 434715 434715 + Silent SNP G G T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 19 434715 434715 G T SNP SHC2 ENST00000264554 human ensembl 70_37 -1 known silent c.1104 p.L368 0.988 NULL pfam_PTyr_interaction_dom,pfam_SH2,smart_PTyr_interaction_dom,smart_SH2,pfscan_PTyr_interaction_dom,pfscan_SH2,prints_PID_domain,prints_SH2 - no_errors SHC2 HGNC SLC7A11 23657 genome.wustl.edu 37 4 139153538 139153539 + Splice_Site INS - - A TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 4 139153538 139153539 - A INS SLC7A11 ENST00000280612 human ensembl 70_37 -1 known splice_site_ins c.405-3_405-2 e3-2 1.000:0.006 - - - no_errors SLC7A11 HGNC SLK 9748 genome.wustl.edu 37 10 105763175 105763175 + Missense_Mutation SNP G G T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 10 105763175 105763175 G T SNP SLK ENST00000369755 human ensembl 70_37 +1 known missense c.2239 p.D747Y 1.000 superfamily_Kinase-like_dom pfam_PKK,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_UVR_dom,pfscan_Prot_kinase_cat_dom - no_errors SLK HGNC STAMBPL1 57559 genome.wustl.edu 37 10 90673020 90673020 + Nonsense_Mutation SNP C C T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 10 90673020 90673020 C T SNP STAMBPL1 ENST00000371927 human ensembl 70_37 +1 known nonsense c.583 p.R195* 0.765 NULL pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1 - no_errors STAMBPL1 HGNC STX11 8676 genome.wustl.edu 37 6 144508077 144508077 + Missense_Mutation SNP C C T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 6 144508077 144508077 C T SNP STX11 ENST00000367568 human ensembl 70_37 +1 known missense c.313 p.R105C 0.654 pfam_Syntaxin_N,superfamily_t-SNARE,smart_Syntaxin_N pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX11 HGNC TAS2R60 338398 genome.wustl.edu 37 7 143141000 143141000 + Missense_Mutation SNP C C A TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 7 143141000 143141000 C A SNP TAS2R60 ENST00000332690 human ensembl 70_37 +1 known missense c.455 p.S152Y 0.000 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R60 HGNC THBS4 7060 genome.wustl.edu 37 5 79372793 79372793 + Missense_Mutation SNP G G T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 5 79372793 79372793 G T SNP THBS4 ENST00000350881 human ensembl 70_37 +1 known missense c.2008 p.D670Y 1.000 NULL pfam_Thrombospondin_C,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom - no_errors THBS4 HGNC TIA1 7072 genome.wustl.edu 37 2 70456452 70456453 + Splice_Site INS - - A TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 2 70456452 70456453 - A INS TIA1 ENST00000433529 human ensembl 70_37 -1 known splice_site_ins c.223-3_223-2 e4-2 1.000:0.990 - - - no_errors TIA1 HGNC TOP3B 8940 genome.wustl.edu 37 22 22324757 22324757 + Missense_Mutation SNP C C T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 22 22324757 22324757 C T SNP TOP3B ENST00000357179 human ensembl 70_37 -1 known missense c.406 p.V136I 0.997 pfam_Toprim_domain,superfamily_Topo_IA_core_domain,smart_Toprim_domain pfam_Topo_IA_cen,pfam_Toprim_domain,superfamily_Topo_IA_core_domain,smart_Toprim_domain,smart_Topo_IA_2,smart_Topo_IA_DNA-bd,prints_Topo_IA - no_errors TOP3B HGNC TRPM5 29850 genome.wustl.edu 37 11 2436530 2436530 + Missense_Mutation SNP G G A TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 11 2436530 2436530 G A SNP TRPM5 ENST00000452833 human ensembl 70_37 -1 known missense c.1306 p.R436W 1.000 NULL superfamily_Ankyrin_rpt-contain_dom - no_errors TRPM5 HGNC TTLL4 9654 genome.wustl.edu 37 2 219603344 219603344 + Missense_Mutation SNP G G T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 2 219603344 219603344 G T SNP TTLL4 ENST00000258398 human ensembl 70_37 +1 known missense c.945 p.E315D 0.351 NULL pfam_Tub_tyr_ligase - no_errors TTLL4 HGNC TTLL9 164395 genome.wustl.edu 37 20 30467697 30467697 + Silent SNP G G A TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 20 30467697 30467697 G A SNP TTLL9 ENST00000375934 human ensembl 70_37 +1 known silent c.12 p.P4 0.982 NULL pfam_Tub_tyr_ligase - no_errors TTLL9 HGNC TUBGCP5 114791 genome.wustl.edu 37 15 22867457 22867457 + Splice_Site SNP G G C TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 15 22867457 22867457 G C SNP TUBGCP5 ENST00000283645 human ensembl 70_37 +1 known splice_site c.2534-1 e19-1 1.000 - - - no_errors TUBGCP5 HGNC VCAN 1462 genome.wustl.edu 37 5 82833083 82833083 + Missense_Mutation SNP C C T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 5 82833083 82833083 C T SNP VCAN ENST00000265077 human ensembl 70_37 +1 known missense c.4261 p.P1421S 1.000 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link - no_errors VCAN HGNC VCL 7414 genome.wustl.edu 37 10 75857001 75857001 + Missense_Mutation SNP G G T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 10 75857001 75857001 G T SNP VCL ENST00000211998 human ensembl 70_37 +1 known missense c.1783 p.V595L 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Vinculin - no_errors VCL HGNC VEGFC 7424 genome.wustl.edu 37 4 177648970 177648970 + Missense_Mutation SNP G G T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 4 177648970 177648970 G T SNP VEGFC ENST00000280193 human ensembl 70_37 -1 known missense c.514 p.Q172K 1.000 pfam_PD_growth_factor,smart_PD_growth_factor,pfscan_PD_growth_factor pfam_PD_growth_factor,pfam_CXCXC_repeat,smart_PD_growth_factor,pfscan_PD_growth_factor - no_errors VEGFC HGNC WDR17 116966 genome.wustl.edu 37 4 177058704 177058704 + Missense_Mutation SNP G G A TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 4 177058704 177058704 G A SNP WDR17 ENST00000280190 human ensembl 70_37 +1 known missense c.1373 p.R458Q 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR17 HGNC WDR70 55100 genome.wustl.edu 37 5 37392223 37392223 + Splice_Site SNP G G T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 5 37392223 37392223 G T SNP WDR70 ENST00000265107 human ensembl 70_37 +1 known splice_site c.296+1 e4+1 0.997 - - - no_errors WDR70 HGNC WNT16 51384 genome.wustl.edu 37 7 120979235 120979235 + Missense_Mutation SNP C C A TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 7 120979235 120979235 C A SNP WNT16 ENST00000222462 human ensembl 70_37 +1 known missense c.934 p.R312S 1.000 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt16,prints_Wnt - no_errors WNT16 HGNC YTHDC1 91746 genome.wustl.edu 37 4 69188587 69188587 + Missense_Mutation SNP G G T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 4 69188587 69188587 G T SNP YTHDC1 ENST00000344157 human ensembl 70_37 -1 known missense c.1481 p.P494H 0.994 NULL pfam_YTH_domain,pfscan_YTH_domain - no_errors YTHDC1 HGNC ZBBX 79740 genome.wustl.edu 37 3 167068260 167068260 + Missense_Mutation SNP G G T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 3 167068260 167068260 G T SNP ZBBX ENST00000307529 human ensembl 70_37 -1 known missense c.476 p.A159D 1.000 pfam_Znf_B-box pfam_Znf_B-box - no_errors ZBBX HGNC ZNF252P 286101 genome.wustl.edu 37 8 146202714 146202714 + RNA SNP T T A TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 8 146202714 146202714 T A SNP ZNF252P ENST00000426361 human ensembl 70_37 -1 known rna NULL NULL 0.077 - - - no_errors ZNF252P HGNC ZP2 7783 genome.wustl.edu 37 16 21210183 21210183 + Missense_Mutation SNP G G A TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f6180ec-2423-415c-ab25-7a8ee6ac5176 3ff4c312-9503-4618-ad53-f68e8241be5c 16 21210183 21210183 G A SNP ZP2 ENST00000219593 human ensembl 70_37 -1 known missense c.1928 p.A643V 0.695 NULL pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors ZP2 HGNC