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 ABCD1 215 genome.wustl.edu 37 X 152990784 152990784 + Silent SNP C C T TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 X 152990784 152990784 C T SNP ABCD1 ENST00000218104 human ensembl 70_37 +1 known silent c.63 p.L21 1.000 tigrfam_FA_transporter pfam_ABC_Ald_N,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_FA_transporter - no_errors ABCD1 HGNC ABHD16B 140701 genome.wustl.edu 37 20 62494153 62494153 + Silent SNP C C T TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 20 62494153 62494153 C T SNP ABHD16B ENST00000369916 human ensembl 70_37 +1 known silent c.1260 p.P420 0.006 NULL pfam_AB_hydrolase_1 - no_errors ABHD16B HGNC ABI1 10006 genome.wustl.edu 37 10 27112160 27112160 + Silent SNP T T C TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 10 27112160 27112160 T C SNP ABI1 ENST00000355394 human ensembl 70_37 -1 known silent c.192 p.Q64 1.000 pfscan_T_SNARE_dom pfam_Abl-interactor_HHR_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,pfscan_T_SNARE_dom,prints_SH3_domain,prints_p67phox - no_errors ABI1 HGNC ACAP3 116983 genome.wustl.edu 37 1 1235269 1235269 + Missense_Mutation SNP A A C TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 1 1235269 1235269 A C SNP ACAP3 ENST00000353662 human ensembl 70_37 -1 known missense c.554 p.I185S 1.000 NULL pfam_ArfGAP,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors ACAP3 HGNC ADAD1 132612 genome.wustl.edu 37 4 123317530 123317530 + Missense_Mutation SNP G G A TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 4 123317530 123317530 G A SNP ADAD1 ENST00000296513 human ensembl 70_37 +1 known missense c.722 p.R241K 1.000 smart_A_deamin pfam_A_deamin,pfam_Ds-RNA-bd,smart_Ds-RNA-bd,smart_A_deamin,pfscan_Ds-RNA-bd,pfscan_A_deamin - no_errors ADAD1 HGNC AVPR2 554 genome.wustl.edu 37 X 153172076 153172076 + Missense_Mutation SNP G G A TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 X 153172076 153172076 G A SNP AVPR2 ENST00000337474 human ensembl 70_37 +1 known missense c.1010 p.R337Q 0.183 prints_Vprsn_rcpt_V2 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Vprsn_rcpt_V2,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn - no_errors AVPR2 HGNC B4GALNT4 338707 genome.wustl.edu 37 11 373229 373229 + Missense_Mutation SNP G G A TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 11 373229 373229 G A SNP B4GALNT4 ENST00000329962 human ensembl 70_37 +1 known missense c.574 p.E192K 1.000 pfam_PA14,smart_PA14 pfam_Chond_GalNAc,pfam_PA14,smart_PA14 - no_errors B4GALNT4 HGNC BBS2 583 genome.wustl.edu 37 16 56536701 56536701 + Missense_Mutation SNP C C T TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 16 56536701 56536701 C T SNP BBS2 ENST00000245157 human ensembl 70_37 -1 known missense c.824 p.R275Q 1.000 superfamily_WD40_repeat_dom,pirsf_Bardet-Biedl_syndrome_2_prot superfamily_WD40_repeat_dom,pirsf_Bardet-Biedl_syndrome_2_prot - no_errors BBS2 HGNC C7 730 genome.wustl.edu 37 5 40947853 40947853 + Silent SNP C C T TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 5 40947853 40947853 C T SNP C7 ENST00000313164 human ensembl 70_37 +1 known silent c.888 p.I296 0.713 pfam_MACPF,smart_MACPF,prints_MAC_perforin pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Complement_control_module,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin - no_errors C7 HGNC CACHD1 57685 genome.wustl.edu 37 1 65099846 65099846 + Silent SNP C C T TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 1 65099846 65099846 C T SNP CACHD1 ENST00000371073 human ensembl 70_37 +1 known silent c.909 p.S303 0.978 pfscan_VWF_A pfam_VWA_N,pfam_Cache_domain,pfscan_VWF_A - no_errors CACHD1 HGNC CACNA2D3 55799 genome.wustl.edu 37 3 54919573 54919573 + Silent SNP G G A TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 3 54919573 54919573 G A SNP CACNA2D3 ENST00000288197 human ensembl 70_37 +1 known silent c.2016 p.A672 0.368 NULL pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D3 HGNC CAMLG 819 genome.wustl.edu 37 5 134076890 134076890 + Missense_Mutation SNP G G A TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 5 134076890 134076890 G A SNP CAMLG ENST00000297156 human ensembl 70_37 +1 known missense c.310 p.E104K 0.721 pirsf_Ca_signal-mod_cyclophilin_lig pirsf_Ca_signal-mod_cyclophilin_lig - no_errors CAMLG HGNC CCDC108 255101 genome.wustl.edu 37 2 219897276 219897276 + Silent SNP G G A TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 2 219897276 219897276 G A SNP CCDC108 ENST00000341552 human ensembl 70_37 -1 known silent c.561 p.F187 1.000 NULL superfamily_PapD-like,pfscan_Major_sperm - no_errors CCDC108 HGNC COL15A1 1306 genome.wustl.edu 37 9 101812136 101812136 + Missense_Mutation SNP G G A TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 9 101812136 101812136 G A SNP COL15A1 ENST00000375001 human ensembl 70_37 +1 known missense c.2863 p.A955T 0.984 superfamily_C-type_lectin_fold pfam_Collagenase_NC10/endostatin,pfam_Collagen,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL15A1 HGNC DCHS1 8642 genome.wustl.edu 37 11 6653796 6653796 + Nonsense_Mutation SNP G G A TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 11 6653796 6653796 G A SNP DCHS1 ENST00000299441 human ensembl 70_37 -1 known nonsense c.2947 p.R983* 0.988 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS1 HGNC DENND4B 9909 genome.wustl.edu 37 1 153912202 153912202 + Missense_Mutation SNP C C T TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 1 153912202 153912202 C T SNP DENND4B ENST00000361217 human ensembl 70_37 -1 known missense c.1682 p.R561Q 1.000 NULL pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND4B HGNC DNAJB8-AS1 285224 genome.wustl.edu 37 3 128182808 128182808 + RNA SNP C C T TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 3 128182808 128182808 C T SNP DNAJB8-AS1 ENST00000471626 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors DNAJB8-AS1 HGNC DOCK7 85440 genome.wustl.edu 37 1 63052286 63052286 + Silent SNP G G C TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 1 63052286 63052286 G C SNP DOCK7 ENST00000251157 human ensembl 70_37 -1 known silent c.1692 p.L564 0.995 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold - no_errors DOCK7 HGNC DYNC2H1 79659 genome.wustl.edu 37 11 103092859 103092859 + Missense_Mutation SNP A A G TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 11 103092859 103092859 A G SNP DYNC2H1 ENST00000398093 human ensembl 70_37 +1 known missense c.9208 p.N3070D 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC EFHB 151651 genome.wustl.edu 37 3 19947139 19947139 + Missense_Mutation SNP G G C TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 3 19947139 19947139 G C SNP EFHB ENST00000295824 human ensembl 70_37 -1 known missense c.1391 p.S464C 0.906 NULL pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors EFHB HGNC ENSG00000238261 0 genome.wustl.edu 37 1 143380503 143380503 + RNA SNP C C T TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 1 143380503 143380503 C T SNP ENSG00000238261 ENST00000423394 human ensembl 70_37 +1 known rna NULL NULL 0.024 - - - no_errors BX004987.5 Clone_based_vega_gene TMEM255B 348013 genome.wustl.edu 37 13 114498154 114498154 + Missense_Mutation SNP G G A TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 13 114498154 114498154 G A SNP FAM70B ENST00000375353 human ensembl 70_37 +1 known missense c.286 p.V96M 0.997 NULL NULL - no_errors FAM70B HGNC GAB1 2549 genome.wustl.edu 37 4 144359481 144359481 + Missense_Mutation SNP A A T TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 4 144359481 144359481 A T SNP GAB1 ENST00000262995 human ensembl 70_37 +1 known missense c.923 p.D308V 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors GAB1 HGNC GLRX2 51022 genome.wustl.edu 37 1 193070288 193070288 + Missense_Mutation SNP G G A TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 1 193070288 193070288 G A SNP GLRX2 ENST00000367440 human ensembl 70_37 -1 known missense c.169 p.P57S 0.197 superfamily_Thioredoxin-like_fold pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold,prints_Glutaredoxin_subgr,tigrfam_Glutaredoxin_euk/vir - no_errors GLRX2 HGNC GOLGA6A 342096 genome.wustl.edu 37 15 74363798 74363798 + Silent SNP G G A TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 15 74363798 74363798 G A SNP GOLGA6A ENST00000290438 human ensembl 70_37 -1 known silent c.1710 p.T570 0.990 NULL NULL - no_errors GOLGA6A HGNC GOLGA8G 283768 genome.wustl.edu 37 15 28769099 28769099 + Missense_Mutation SNP C C G TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 15 28769099 28769099 C G SNP GOLGA8G ENST00000433304 human ensembl 70_37 -1 known missense c.743 p.R248T 0.987 NULL NULL - no_errors GOLGA8G HGNC GPI 2821 genome.wustl.edu 37 19 34857712 34857712 + Missense_Mutation SNP G G T TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 19 34857712 34857712 G T SNP GPI ENST00000415930 human ensembl 70_37 +1 known missense c.355 p.A119S 1.000 pfam_G6P_Isomerase pfam_G6P_Isomerase,prints_G6P_Isomerase - no_errors GPI HGNC HUWE1 10075 genome.wustl.edu 37 X 53615416 53615416 + Missense_Mutation SNP T T C TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 X 53615416 53615416 T C SNP HUWE1 ENST00000262854 human ensembl 70_37 -1 known missense c.4540 p.I1514V 1.000 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 IMPG1 3617 genome.wustl.edu 37 6 76712654 76712654 + Silent SNP T T C TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 6 76712654 76712654 T C SNP IMPG1 ENST00000369950 human ensembl 70_37 -1 known silent c.1272 p.G424 0.000 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors IMPG1 HGNC KAZN 23254 genome.wustl.edu 37 1 15421416 15421416 + Missense_Mutation SNP G G A TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 1 15421416 15421416 G A SNP KAZN ENST00000376030 human ensembl 70_37 +1 known missense c.1534 p.E512K 0.997 superfamily_SAM/pointed pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors KAZN HGNC LOC100996870 100996870 genome.wustl.edu 37 9 66466172 66466172 + RNA SNP T T C TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 9 66466172 66466172 T C SNP LOC100996870 ENST00000424345 human ensembl 70_37 +1 known rna NULL NULL 0.124 - - - no_errors RP11-262H14.1 Clone_based_vega_gene LRCH2 57631 genome.wustl.edu 37 X 114384485 114384485 + Missense_Mutation SNP G G T TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 X 114384485 114384485 G T SNP LRCH2 ENST00000317135 human ensembl 70_37 -1 known missense c.1600 p.Q534K 0.998 NULL pfam_Leu-rich_rpt,pfam_CH-domain,superfamily_CH-domain,superfamily_NA-bd_OB-fold-like,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain - no_errors LRCH2 HGNC LRP2 4036 genome.wustl.edu 37 2 170048422 170048422 + Silent SNP C C T TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 2 170048422 170048422 C T SNP LRP2 ENST00000263816 human ensembl 70_37 -1 known silent c.8952 p.E2984 0.920 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP2 HGNC LRP5 4041 genome.wustl.edu 37 11 68190979 68190979 + Missense_Mutation SNP G G A TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 11 68190979 68190979 G A SNP LRP5 ENST00000294304 human ensembl 70_37 +1 known missense c.3050 p.S1017N 0.184 smart_LDLR_classB_rpt,pirsf_Low_density_Lipo_rcpt-rel_p5/6 pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP5 HGNC MAGEE1 57692 genome.wustl.edu 37 X 75651040 75651040 + Missense_Mutation SNP G G A TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 X 75651040 75651040 G A SNP MAGEE1 ENST00000361470 human ensembl 70_37 +1 known missense c.2717 p.R906H 0.898 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEE1 HGNC MAPK1 5594 genome.wustl.edu 37 22 22127164 22127164 + Missense_Mutation SNP C C T TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 22 22127164 22127164 C T SNP MAPK1 ENST00000215832 human ensembl 70_37 -1 known missense c.964 p.E322K 1.000 superfamily_Kinase-like_dom,prints_MAPK_ERK1/2 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,prints_MAPK_ERK1/2,prints_MAPK_ERK3/4 - no_errors MAPK1 HGNC MAST1 22983 genome.wustl.edu 37 19 12978425 12978425 + Silent SNP G G A TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 19 12978425 12978425 G A SNP MAST1 ENST00000251472 human ensembl 70_37 +1 known silent c.2277 p.L759 1.000 NULL pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom - no_errors MAST1 HGNC MIR4477B 100616194 genome.wustl.edu 37 9 68415379 68415379 + RNA SNP G G A TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 9 68415379 68415379 G A SNP MIR4477B ENST00000581659 human ensembl 70_37 +1 known rna NULL NULL 0.197 - - - no_errors MIR4477B HGNC MPDZ 8777 genome.wustl.edu 37 9 13176163 13176163 + Missense_Mutation SNP G G A TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 9 13176163 13176163 G A SNP MPDZ ENST00000319217 human ensembl 70_37 -1 known missense c.2903 p.P968L 0.015 NULL pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors MPDZ HGNC MPP5 64398 genome.wustl.edu 37 14 67770295 67770295 + Silent SNP G G A TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 14 67770295 67770295 G A SNP MPP5 ENST00000261681 human ensembl 70_37 +1 known silent c.1020 p.P340 0.893 superfamily_SH3_domain,superfamily_PDZ pfam_Guanylate_kin,pfam_L27_N,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,pfam_L27_C,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors MPP5 HGNC MRPL22 29093 genome.wustl.edu 37 5 154330430 154330430 + Nonsense_Mutation SNP C C T TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 5 154330430 154330430 C T SNP MRPL22 ENST00000523037 human ensembl 70_37 +1 known nonsense c.127 p.R43* 0.035 NULL pfam_Ribosomal_L22,superfamily_Ribosomal_L22 - no_errors MRPL22 HGNC MST4 51765 genome.wustl.edu 37 X 131208175 131208175 + Silent SNP C C T TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 X 131208175 131208175 C T SNP MST4 ENST00000394334 human ensembl 70_37 +1 known silent c.1239 p.D413 0.999 NULL 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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MST4 Uniprot_genename NLRP6 171389 genome.wustl.edu 37 11 284302 284302 + Silent SNP G G A TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 11 284302 284302 G A SNP NLRP6 ENST00000312165 human ensembl 70_37 +1 known silent c.2274 p.L758 0.691 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP6 HGNC NUP210L 91181 genome.wustl.edu 37 1 153995690 153995690 + Silent SNP C C T TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 1 153995690 153995690 C T SNP NUP210L ENST00000368559 human ensembl 70_37 -1 known silent c.4206 p.L1402 1.000 NULL pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2 - no_errors NUP210L HGNC OR5P2 120065 genome.wustl.edu 37 11 7818375 7818375 + Missense_Mutation SNP G G A TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 11 7818375 7818375 G A SNP OR5P2 ENST00000329434 human ensembl 70_37 -1 known missense c.115 p.L39F 0.824 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5P2 HGNC OR8U1 219417 genome.wustl.edu 37 11 56143175 56143175 + Missense_Mutation SNP C C T TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 11 56143175 56143175 C T SNP OR8U1 ENST00000302270 human ensembl 70_37 +1 known missense c.76 p.P26S 0.003 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8U1 HGNC OSBPL3 26031 genome.wustl.edu 37 7 24874252 24874252 + Silent SNP C C T TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 7 24874252 24874252 C T SNP OSBPL3 ENST00000313367 human ensembl 70_37 -1 known silent c.1599 p.R533 0.448 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL3 HGNC PCDH11X 27328 genome.wustl.edu 37 X 91090517 91090517 + Missense_Mutation SNP C C T TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 X 91090517 91090517 C T SNP PCDH11X ENST00000373094 human ensembl 70_37 +1 known missense c.14 p.S5F 1.000 NULL pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH11X HGNC PCDHB11 56125 genome.wustl.edu 37 5 140580689 140580689 + Missense_Mutation SNP G G A TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 5 140580689 140580689 G A SNP PCDHB11 ENST00000354757 human ensembl 70_37 +1 known missense c.1342 p.A448T 0.467 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB11 HGNC PIK3C2A 5286 genome.wustl.edu 37 11 17118705 17118705 + Missense_Mutation SNP G G A TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 11 17118705 17118705 G A SNP PIK3C2A ENST00000265970 human ensembl 70_37 -1 known missense c.4225 p.L1409F 1.000 NULL pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_C2_Ca-dep,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,pfscan_C2_membr_targeting,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2A HGNC PLA2R1 22925 genome.wustl.edu 37 2 160901448 160901448 + Silent SNP G G A TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 2 160901448 160901448 G A SNP PLA2R1 ENST00000283243 human ensembl 70_37 -1 known silent c.330 p.L110 0.000 superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin - no_errors PLA2R1 HGNC PLXNA2 5362 genome.wustl.edu 37 1 208224391 208224391 + Missense_Mutation SNP C C T TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 1 208224391 208224391 C T SNP PLXNA2 ENST00000367033 human ensembl 70_37 -1 known missense c.3218 p.R1073K 1.000 pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNA2 HGNC PPIL1 51645 genome.wustl.edu 37 6 36823502 36823503 + RNA INS - - A TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 6 36823502 36823503 - A INS PPIL1 ENST00000483552 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors PPIL1 HGNC PTGER4 5734 genome.wustl.edu 37 5 40681122 40681122 + Silent SNP C C T TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 5 40681122 40681122 C T SNP PTGER4 ENST00000302472 human ensembl 70_37 +1 known silent c.27 p.S9 0.065 prints_Prost_EP4_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Prost_EP4_rcpt,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn,prints_Prostglndn_DP_rcpt - no_errors PTGER4 HGNC PTPRG 5793 genome.wustl.edu 37 3 62253428 62253428 + Nonsense_Mutation SNP G G A TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 3 62253428 62253428 G A SNP PTPRG ENST00000474889 human ensembl 70_37 +1 known nonsense c.2808 p.W936* 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRG HGNC PTPRK 5796 genome.wustl.edu 37 6 128505667 128505667 + Missense_Mutation SNP C C T TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 6 128505667 128505667 C T SNP PTPRK ENST00000368227 human ensembl 70_37 -1 known missense c.1072 p.E358K 0.999 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRK HGNC RNF111 54778 genome.wustl.edu 37 15 59387291 59387292 + RNA INS - - T TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 15 59387291 59387292 - T INS RNF111 ENST00000560080 human ensembl 70_37 +1 known rna NULL NULL 0.977:0.995 - - - no_errors RNF111 HGNC SLC5A6 8884 genome.wustl.edu 37 2 27426071 27426071 + RNA SNP G G A TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 2 27426071 27426071 G A SNP SLC5A6 ENST00000461319 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors SLC5A6 HGNC SMARCA2 6595 genome.wustl.edu 37 9 2086856 2086856 + Missense_Mutation SNP G G A TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 9 2086856 2086856 G A SNP SMARCA2 ENST00000349721 human ensembl 70_37 +1 known missense c.2554 p.E852K 1.000 pfam_SNF2_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_HSA,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_Bromodomain,superfamily_RNaseH-like_dom,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain - no_errors SMARCA2 HGNC STAT2 6773 genome.wustl.edu 37 12 56737713 56737713 + Missense_Mutation SNP A A G TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 12 56737713 56737713 A G SNP STAT2 ENST00000314128 human ensembl 70_37 -1 known missense c.2309 p.V770A 0.000 NULL pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT2_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT2 HGNC TBCB 1155 genome.wustl.edu 37 19 36612624 36612624 + Missense_Mutation SNP C C T TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 19 36612624 36612624 C T SNP TBCB ENST00000589308 human ensembl 70_37 +1 putative missense c.398 p.A133V 0.488 NULL superfamily_CAP-Gly_domain - no_errors TBCB HGNC TCEB3CL 728929 genome.wustl.edu 37 18 44549025 44549026 + Frame_Shift_Ins INS - - GC TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 18 44549025 44549026 - GC INS TCEB3CL ENST00000451265 human ensembl 70_37 -1 known frame_shift_ins c.1274_1273 p.Q425fs 1.000:1.000 pfam_RNA_pol_II_trans_fac_SIII_A pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub - no_errors TCEB3CL HGNC TFAP2B 7021 genome.wustl.edu 37 6 50803940 50803940 + Silent SNP G G T TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 6 50803940 50803940 G T SNP TFAP2B ENST00000263046 human ensembl 70_37 +1 known silent c.795 p.R265 0.935 pfam_TF_AP2_C pfam_TF_AP2_C,prints_TF_AP2_beta,prints_TF_AP2_C - no_errors TFAP2B HGNC TINAG 27283 genome.wustl.edu 37 6 54214628 54214628 + Nonsense_Mutation SNP T T A TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 6 54214628 54214628 T A SNP TINAG ENST00000259782 human ensembl 70_37 +1 known nonsense c.1014 p.C338* 1.000 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,pfam_Somatomedin_B_dom,smart_Somatomedin_B_dom,smart_Peptidase_C1A_C,pfscan_Somatomedin_B_dom - no_errors TINAG HGNC TNK2 10188 genome.wustl.edu 37 3 195610077 195610077 + Missense_Mutation SNP C C T TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 3 195610077 195610077 C T SNP TNK2 ENST00000381916 human ensembl 70_37 -1 known missense c.749 p.R250Q 0.976 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_GTPase_binding,pfam_Inhibitor_Mig-6,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_SAM/pointed,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TNK2 HGNC TNNC2 7125 genome.wustl.edu 37 20 44453153 44453153 + Silent SNP G G A TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 20 44453153 44453153 G A SNP TNNC2 ENST00000372555 human ensembl 70_37 -1 known silent c.180 p.I60 0.999 pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors TNNC2 HGNC TRIM51 84767 genome.wustl.edu 37 11 55653082 55653082 + Missense_Mutation SNP C C T TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 11 55653082 55653082 C T SNP TRIM51 ENST00000449290 human ensembl 70_37 +1 known missense c.178 p.R60W 0.000 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM51 HGNC TSN 7247 genome.wustl.edu 37 2 122516333 122516333 + Missense_Mutation SNP A A G TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 2 122516333 122516333 A G SNP TSN ENST00000389682 human ensembl 70_37 +1 known missense c.208 p.T70A 1.000 pfam_Translin,superfamily_Translin pfam_Translin,superfamily_Translin - no_errors TSN HGNC TYSND1 219743 genome.wustl.edu 37 10 71899626 71899626 + RNA SNP C C G TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 10 71899626 71899626 C G SNP TYSND1 ENST00000479086 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors TYSND1 HGNC UCKL1 54963 genome.wustl.edu 37 20 62575995 62575995 + Silent SNP G G A TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 20 62575995 62575995 G A SNP UCKL1 ENST00000354216 human ensembl 70_37 -1 known silent c.747 p.I249 0.976 pfam_PRK/URK,prints_Uridine_kinase,prints_PRK,tigrfam_Uridine_kinase pfam_PRK/URK,pfam_CPT,prints_Uridine_kinase,prints_PRK,tigrfam_Uridine_kinase - no_errors UCKL1 HGNC USP40 55230 genome.wustl.edu 37 2 234429677 234429677 + Missense_Mutation SNP G G C TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 2 234429677 234429677 G C SNP USP40 ENST00000450966 human ensembl 70_37 -1 known missense c.2318 p.S773C 0.928 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP40 HGNC UTP14A 10813 genome.wustl.edu 37 X 129059022 129059022 + Missense_Mutation SNP G G A TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 X 129059022 129059022 G A SNP UTP14A ENST00000394422 human ensembl 70_37 +1 known missense c.1600 p.E534K 0.016 pfam_SSU_processome_Utp14 pfam_SSU_processome_Utp14 - no_errors UTP14A HGNC ZC3H3 23144 genome.wustl.edu 37 8 144557574 144557574 + Missense_Mutation SNP G G A TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 8 144557574 144557574 G A SNP ZC3H3 ENST00000262577 human ensembl 70_37 -1 known missense c.1897 p.R633C 0.144 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H3 HGNC ZDHHC11B 653082 genome.wustl.edu 37 5 711855 711856 + RNA INS - - TA TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 5 711855 711856 - TA INS ZDHHC11B ENST00000522356 human ensembl 70_37 -1 known rna NULL NULL 0.055:0.021 - - - no_errors ZDHHC11B HGNC ZDHHC12 84885 genome.wustl.edu 37 9 131486103 131486103 + RNA SNP G G C TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 9 131486103 131486103 G C SNP ZDHHC12 ENST00000467312 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors ZDHHC12 HGNC ZNF250 58500 genome.wustl.edu 37 8 146107571 146107571 + Missense_Mutation SNP G G T TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 8 146107571 146107571 G T SNP ZNF250 ENST00000292579 human ensembl 70_37 -1 known missense c.1012 p.P338T 1.000 pfscan_Znf_C2H2 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 ZNF250 HGNC ZNF728 388523 genome.wustl.edu 37 19 23171134 23171134 + Silent SNP G G T TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efaa9ff8-bd77-417b-b6f6-232110c585aa a6f880ce-99d3-4975-a271-5cae1c433e76 19 23171134 23171134 G T SNP ZNF728 ENST00000594710 human ensembl 70_37 -1 novel silent c.123 p.V41 0.976 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 ZNF728 HGNC