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 ABCA3 21 genome.wustl.edu 37 16 2339537 2339537 + Silent SNP G G A TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 16 2339537 2339537 G A SNP ABCA3 ENST00000301732 human ensembl 70_37 -1 known silent c.2598 p.S866 0.410 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA3 HGNC ADAMTS14 140766 genome.wustl.edu 37 10 72511285 72511285 + Missense_Mutation SNP G G A TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 10 72511285 72511285 G A SNP ADAMTS14 ENST00000373208 human ensembl 70_37 +1 known missense c.2488 p.V830I 0.052 pfam_ADAM_spacer1 pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B - no_errors ADAMTS14 HGNC ADAMTS16 170690 genome.wustl.edu 37 5 5235148 5235148 + Silent SNP C C T TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 5 5235148 5235148 C T SNP ADAMTS16 ENST00000274181 human ensembl 70_37 +1 known silent c.1872 p.F624 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,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 ADAMTS16 HGNC AHCY 191 genome.wustl.edu 37 20 32880201 32880201 + Silent SNP G G A TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 20 32880201 32880201 G A SNP AHCY ENST00000217426 human ensembl 70_37 -1 known silent c.408 p.T136 0.998 pfam_Adenosylhomocysteinase,pirsf_Adenosylhomocysteinase,tigrfam_Adenosylhomocysteinase pfam_Adenosylhomocysteinase,pfam_Ado_hCys_hydrolase_NAD-bd,pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_IlvN,pirsf_Adenosylhomocysteinase,tigrfam_Adenosylhomocysteinase - no_errors AHCY HGNC AKNA 80709 genome.wustl.edu 37 9 117121944 117121944 + Missense_Mutation SNP C C T TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 9 117121944 117121944 C T SNP AKNA ENST00000307564 human ensembl 70_37 -1 known missense c.2422 p.A808T 0.000 NULL pfam_TF_AT-hook - no_errors AKNA HGNC ALS2 57679 genome.wustl.edu 37 2 202626361 202626361 + Missense_Mutation SNP G G T TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 2 202626361 202626361 G T SNP ALS2 ENST00000264276 human ensembl 70_37 -1 known missense c.356 p.S119Y 0.888 pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens pfam_Reg_chr_condens,pfam_MORN,pfam_VPS9,pfam_DH-domain,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_DH-domain,smart_MORN,pfscan_VPS9,pfscan_Reg_chr_condens,pfscan_DH-domain,prints_Reg_chr_condens - no_errors ALS2 HGNC AMZ2 51321 genome.wustl.edu 37 17 66250580 66250580 + Missense_Mutation SNP G G C TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 17 66250580 66250580 G C SNP AMZ2 ENST00000359904 human ensembl 70_37 +1 known missense c.622 p.D208H 0.998 NULL pfam_Pept_M54_archaemetzincn - no_errors AMZ2 HGNC ANK2 287 genome.wustl.edu 37 4 114280416 114280416 + Missense_Mutation SNP G G C TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 4 114280416 114280416 G C SNP ANK2 ENST00000357077 human ensembl 70_37 +1 known missense c.10642 p.E3548Q 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC APOB 338 genome.wustl.edu 37 2 21252562 21252562 + Missense_Mutation SNP C C A TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 2 21252562 21252562 C A SNP APOB ENST00000233242 human ensembl 70_37 -1 known missense c.1566 p.M522I 0.428 pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ART3 419 genome.wustl.edu 37 4 77020136 77020136 + Silent SNP C C T TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 4 77020136 77020136 C T SNP ART3 ENST00000355810 human ensembl 70_37 +1 known silent c.843 p.N281 0.142 NULL pfam_ART,prints_ART - no_errors ART3 HGNC ASH2L 9070 genome.wustl.edu 37 8 37978654 37978654 + Silent SNP C C G TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 8 37978654 37978654 C G SNP ASH2L ENST00000343823 human ensembl 70_37 +1 known silent c.1152 p.A384 0.715 superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY - no_errors ASH2L HGNC ATP10A 57194 genome.wustl.edu 37 15 25953178 25953178 + Silent SNP G G A TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 15 25953178 25953178 G A SNP ATP10A ENST00000356865 human ensembl 70_37 -1 known silent c.2520 p.S840 0.036 pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,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 ATP10A HGNC ATP11B 23200 genome.wustl.edu 37 3 182587084 182587085 + Frame_Shift_Ins INS - - A TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 3 182587084 182587085 - A INS ATP11B ENST00000323116 human ensembl 70_37 +1 known frame_shift_ins c.1831_1832 p.T613fs 1.000:1.000 superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,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 ATP11B HGNC CAPN10 11132 genome.wustl.edu 37 2 241535810 241535810 + Silent SNP C C T TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 2 241535810 241535810 C T SNP CAPN10 ENST00000391984 human ensembl 70_37 +1 known silent c.1353 p.Y451 0.588 pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Calpain_III pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN10 HGNC CBLB 868 genome.wustl.edu 37 3 105400388 105400388 + Missense_Mutation SNP T T C TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 3 105400388 105400388 T C SNP CBLB ENST00000264122 human ensembl 70_37 -1 known missense c.2363 p.N788S 0.957 NULL pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/transl_elong_EF1B_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING - no_errors CBLB HGNC CLK1 1195 genome.wustl.edu 37 2 201722750 201722750 + Missense_Mutation SNP C C T TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 2 201722750 201722750 C T SNP CLK1 ENST00000321356 human ensembl 70_37 -1 known missense c.611 p.R204H 0.999 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 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CLK1 HGNC CNOT6L 246175 genome.wustl.edu 37 4 78641593 78641593 + Missense_Mutation SNP G G A TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 4 78641593 78641593 G A SNP CNOT6L ENST00000264903 human ensembl 70_37 -1 known missense c.1660 p.R554W 0.997 NULL pfam_Endo/exonuclease/phosphatase,pfam_Leu-rich_rpt,superfamily_Endo/exonuclease/phosphatase,smart_Leu-rich_rpt_typical-subtyp - no_errors CNOT6L HGNC CPAMD8 27151 genome.wustl.edu 37 19 17013537 17013537 + Nonsense_Mutation SNP C C T TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 19 17013537 17013537 C T SNP CPAMD8 ENST00000443236 human ensembl 70_37 -1 known nonsense c.4748 p.W1583* 0.498 superfamily_A-macroglobulin_rcpt-bd pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Prot_inh_Kazal - no_errors CPAMD8 HGNC CR2 1380 genome.wustl.edu 37 1 207643042 207643042 + Missense_Mutation SNP A A T TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 1 207643042 207643042 A T SNP CR2 ENST00000367057 human ensembl 70_37 +1 known missense c.820 p.I274F 1.000 superfamily_Complement_control_module,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR2 HGNC DBF4 10926 genome.wustl.edu 37 7 87537187 87537187 + Silent SNP G G C TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 7 87537187 87537187 G C SNP DBF4 ENST00000265728 human ensembl 70_37 +1 known silent c.1734 p.V578 0.899 NULL pfam_Znf_DBF,superfamily_BRCT_dom,smart_Znf_DBF - no_errors DBF4 HGNC DBR1 51163 genome.wustl.edu 37 3 137882330 137882330 + Missense_Mutation SNP C C T TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 3 137882330 137882330 C T SNP DBR1 ENST00000260803 human ensembl 70_37 -1 known missense c.802 p.E268K 1.000 pfam_DBR1_C pfam_DBR1_C,pfam_Metallo_PEstase_dom - no_errors DBR1 HGNC DNAJC21 134218 genome.wustl.edu 37 5 34949771 34949771 + Missense_Mutation SNP G G A TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 5 34949771 34949771 G A SNP DNAJC21 ENST00000382021 human ensembl 70_37 +1 known missense c.1309 p.E437K 0.000 NULL pfam_DnaJ_N,pfam_Znf_C2H2_jaz,superfamily_DnaJ_N,smart_DnaJ_N,smart_Znf_U1,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC21 HGNC EIF4A2 1974 genome.wustl.edu 37 3 186505011 186505011 + Silent SNP G G C TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 3 186505011 186505011 G C SNP EIF4A2 ENST00000440191 human ensembl 70_37 +1 known silent c.870 p.L290 0.948 smart_Helicase_C,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors EIF4A2 HGNC ENSG00000215933 0 genome.wustl.edu 37 X 71372217 71372217 + RNA SNP A A G TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 X 71372217 71372217 A G SNP ENSG00000215933 ENST00000401114 human ensembl 70_37 -1 novel rna NULL NULL 0.006 - - - no_errors BX119917.1 Clone_based_ensembl_gene EPB41L4B 54566 genome.wustl.edu 37 9 112020511 112020511 + Missense_Mutation SNP G G T TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 9 112020511 112020511 G T SNP EPB41L4B ENST00000374566 human ensembl 70_37 -1 known missense c.698 p.P233Q 1.000 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin - no_errors EPB41L4B HGNC EPS8L1 54869 genome.wustl.edu 37 19 55597237 55597237 + Missense_Mutation SNP C C T TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 19 55597237 55597237 C T SNP EPS8L1 ENST00000201647 human ensembl 70_37 +1 known missense c.1414 p.P472S 0.285 superfamily_SH3_domain pfam_PTB,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_PTyr_interaction_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors EPS8L1 HGNC ERO1L 30001 genome.wustl.edu 37 14 53112958 53112958 + Silent SNP C C T TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 14 53112958 53112958 C T SNP ERO1L ENST00000395686 human ensembl 70_37 -1 known silent c.1260 p.L420 0.998 pfam_ER_oxidoreductin-1,superfamily_ER_oxidoreductin-1,pirsf_ER_oxidoreductin-1 pfam_ER_oxidoreductin-1,superfamily_ER_oxidoreductin-1,pirsf_ER_oxidoreductin-1 - no_errors ERO1L HGNC FAM135B 51059 genome.wustl.edu 37 8 139163857 139163857 + Missense_Mutation SNP T T G TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 8 139163857 139163857 T G SNP FAM135B ENST00000395297 human ensembl 70_37 -1 known missense c.2861 p.Q954P 0.000 NULL pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like - no_errors FAM135B HGNC FAM182A 284800 genome.wustl.edu 37 20 26061818 26061818 + Missense_Mutation SNP G G C TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 20 26061818 26061818 G C SNP FAM182A ENST00000246000 human ensembl 70_37 +1 known missense c.170 p.C57S 0.580 NULL NULL - no_errors FAM182A HGNC FAXC 84553 genome.wustl.edu 37 6 99771395 99771395 + Missense_Mutation SNP C C T TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 6 99771395 99771395 C T SNP FAXC ENST00000389677 human ensembl 70_37 -1 known missense c.748 p.G250S 1.000 superfamily_Glutathione-S-Trfase_C-like superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like - no_errors FAXC HGNC FDPS 2224 genome.wustl.edu 37 1 155287807 155287807 + Missense_Mutation SNP C C G TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 1 155287807 155287807 C G SNP FDPS ENST00000356657 human ensembl 70_37 +1 known missense c.556 p.Q186E 1.000 pfam_Polyprenyl_synt,superfamily_Terpenoid_synth pfam_Polyprenyl_synt,superfamily_Terpenoid_synth - no_errors FDPS HGNC HDAC8 55869 genome.wustl.edu 37 X 71792631 71792631 + RNA SNP C C T TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 X 71792631 71792631 C T SNP HDAC8 ENST00000478743 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors HDAC8 HGNC HLA-B 3106 genome.wustl.edu 37 6 31324114 31324114 + Missense_Mutation SNP A A T TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 6 31324114 31324114 A T SNP HLA-B ENST00000412585 human ensembl 70_37 -1 known missense c.449 p.L150Q 0.998 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,prints_MHC_I_a_a1/a2 pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2 - no_errors HLA-B HGNC INMT 11185 genome.wustl.edu 37 7 30739485 30739485 + RNA SNP C C T TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 7 30739485 30739485 C T SNP INMT ENST00000461246 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors INMT HGNC IQGAP3 128239 genome.wustl.edu 37 1 156508650 156508650 + Missense_Mutation SNP G G A TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 1 156508650 156508650 G A SNP IQGAP3 ENST00000361170 human ensembl 70_37 -1 known missense c.3232 p.L1078F 0.999 pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_RasGAP - no_errors IQGAP3 HGNC KCNG1 3755 genome.wustl.edu 37 20 49626582 49626582 + Silent SNP G G A TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 20 49626582 49626582 G A SNP KCNG1 ENST00000371571 human ensembl 70_37 -1 known silent c.294 p.F98 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv9 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_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNG1 HGNC KDM4E 390245 genome.wustl.edu 37 11 94759051 94759051 + Silent SNP G G T TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 11 94759051 94759051 G T SNP KDM4E ENST00000450979 human ensembl 70_37 +1 known silent c.330 p.P110 0.020 NULL pfam_JmjC_dom,pfam_TF_JmjN,smart_TF_JmjN,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4E HGNC KLC3 147700 genome.wustl.edu 37 19 45854574 45854574 + Missense_Mutation SNP C C T TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 19 45854574 45854574 C T SNP KLC3 ENST00000470402 human ensembl 70_37 +1 known missense c.1516 p.R506W 0.353 NULL pfam_Rabaptin_Rab5-bd_dom,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Kinesin_light - no_errors KLC3 HGNC LOC100505761 100505761 genome.wustl.edu 37 10 104211229 104211229 + RNA SNP C C A TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 10 104211229 104211229 C A SNP LOC100505761 ENST00000492465 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-18I14.10 Clone_based_vega_gene MBNL2 10150 genome.wustl.edu 37 13 97995334 97995334 + Missense_Mutation SNP C C T TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 13 97995334 97995334 C T SNP MBNL2 ENST00000376673 human ensembl 70_37 +1 known missense c.404 p.A135V 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors MBNL2 HGNC MED1 5469 genome.wustl.edu 37 17 37588194 37588194 + Splice_Site SNP C C T TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 17 37588194 37588194 C T SNP MED1 ENST00000300651 human ensembl 70_37 -1 known splice_site c.575+1 e8+1 1.000 - - - no_errors MED1 HGNC MEGF8 1954 genome.wustl.edu 37 19 42866575 42866575 + Missense_Mutation SNP G G A TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 19 42866575 42866575 G A SNP MEGF8 ENST00000251268 human ensembl 70_37 +1 known missense c.5884 p.E1962K 1.000 smart_Plexin-like pfam_CUB,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB,superfamily_Plexin-like_fold,smart_CUB,smart_EG-like_dom,smart_Plexin-like,smart_EGF-like_Ca-bd,smart_EGF_laminin,pfscan_CUB,pfscan_EG-like_dom,pfscan_EGF_laminin - no_errors MEGF8 HGNC MICAL3 57553 genome.wustl.edu 37 22 18347715 18347715 + Missense_Mutation SNP T T C TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 22 18347715 18347715 T C SNP MICAL3 ENST00000441493 human ensembl 70_37 -1 known missense c.2555 p.D852G 0.829 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like - no_errors MICAL3 HGNC KMT2A 4297 genome.wustl.edu 37 11 118377304 118377304 + Missense_Mutation SNP G G T TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 11 118377304 118377304 G T SNP MLL ENST00000389506 human ensembl 70_37 +1 known missense c.10688 p.S3563I 1.000 pirsf_MeTrfase_trithorax pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain - no_errors MLL HGNC MT-CO2 4513 genome.wustl.edu 37 MT 7854 7854 + Missense_Mutation SNP T T G TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 MT 7854 7854 T G SNP MT-CO2 ENST00000361739 human ensembl 70_37 +1 known missense c.269 p.V90G NULL superfamily_Cyt_c_oxidase_su2-like_TM_dom,pfscan_Cyt_c_oxidase_su2_TM_dom,tigrfam_Cyt_c_oxidase_su2 pfam_Cyt_c_oxidase_su2_C,pfam_Cyt_c_oxidase_su2_TM_dom,superfamily_Cupredoxin,superfamily_Cyt_c_oxidase_su2-like_TM_dom,pfscan_Cyt_c_oxidase_su2_TM_dom,pfscan_Cyt_c_oxidase_su2_C,tigrfam_Cyt_c_oxidase_su2 - no_errors MT-CO2 HGNC MYH13 8735 genome.wustl.edu 37 17 10225018 10225018 + Missense_Mutation SNP T T G TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 17 10225018 10225018 T G SNP MYH13 ENST00000252172 human ensembl 70_37 -1 known missense c.2942 p.N981T 1.000 NULL pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH13 HGNC NF1 4763 genome.wustl.edu 37 17 29585383 29585383 + Nonsense_Mutation SNP C C T TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 17 29585383 29585383 C T SNP NF1 ENST00000358273 human ensembl 70_37 +1 known nonsense c.4195 p.Q1399* 1.000 pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,smart_RasGAP,pfscan_RasGAP pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC NFIC 4782 genome.wustl.edu 37 19 3434392 3434392 + Missense_Mutation SNP C C G TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 19 3434392 3434392 C G SNP NFIC ENST00000443272 human ensembl 70_37 +1 known missense c.827 p.S276C 1.000 pfam_CTF/NFI pfam_CTF/NFI,pfam_CTF/NFI_DNA-bd_N,pfam_MAD_homology1_Dwarfin-type,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom - no_errors NFIC HGNC NUP62 23636 genome.wustl.edu 37 19 50411685 50411685 + Silent SNP C C T TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 19 50411685 50411685 C T SNP NUP62 ENST00000352066 human ensembl 70_37 -1 known silent c.1380 p.T460 0.002 NULL pfam_Nucleoporin_NSP1_C - no_errors NUP62 HGNC OAS3 4940 genome.wustl.edu 37 12 113403614 113403614 + Silent SNP C C T TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 12 113403614 113403614 C T SNP OAS3 ENST00000228928 human ensembl 70_37 +1 known silent c.2469 p.L823 1.000 pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N - no_errors OAS3 HGNC PCDH20 64881 genome.wustl.edu 37 13 61987573 61987573 + Missense_Mutation SNP T T C TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 13 61987573 61987573 T C SNP PCDH20 ENST00000409186 human ensembl 70_37 -1 known missense c.659 p.E220G 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH20 HGNC PCDH20 64881 genome.wustl.edu 37 13 61987574 61987574 + Nonsense_Mutation SNP C C A TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 13 61987574 61987574 C A SNP PCDH20 ENST00000409186 human ensembl 70_37 -1 known nonsense c.658 p.E220* 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH20 HGNC PDZD4 57595 genome.wustl.edu 37 X 153070078 153070078 + Missense_Mutation SNP G G A TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 X 153070078 153070078 G A SNP PDZD4 ENST00000164640 human ensembl 70_37 -1 known missense c.1040 p.P347L 0.410 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD4 HGNC PET112 5188 genome.wustl.edu 37 4 152640600 152640600 + Missense_Mutation SNP G G A TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 4 152640600 152640600 G A SNP PET112 ENST00000263985 human ensembl 70_37 -1 known missense c.418 p.H140Y 1.000 pfam_Asn/Gln-tRNA_Trfase_suB/E_cat,tigrfam_Apn/Gln-ADT_bsu pfam_Asn/Gln-tRNA_Trfase_suB/E_cat,pfam_Asn/Gln_amidotransferase,superfamily_Asn/Gln_tRNA_amidoTrfrase-rel,smart_Asn/Gln_amidotransferase,tigrfam_Apn/Gln-ADT_bsu - no_errors PET112 HGNC PIK3CA 5290 genome.wustl.edu 37 3 178936082 178936082 + Missense_Mutation SNP G G A TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 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 PIRT 644139 genome.wustl.edu 37 17 10728889 10728889 + Missense_Mutation SNP C C A TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 17 10728889 10728889 C A SNP PIRT ENST00000580256 human ensembl 70_37 -1 known missense c.74 p.S25I 1.000 NULL NULL - no_errors PIRT HGNC PKD1 5310 genome.wustl.edu 37 16 2150481 2150481 + Missense_Mutation SNP G G A TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 16 2150481 2150481 G A SNP PKD1 ENST00000262304 human ensembl 70_37 -1 known missense c.9484 p.R3162C 1.000 pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2 pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_LipOase_LH2,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat - no_errors PKD1 HGNC PML 5371 genome.wustl.edu 37 15 74287202 74287202 + Missense_Mutation SNP C C T TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 15 74287202 74287202 C T SNP PML ENST00000268058 human ensembl 70_37 +1 known missense c.49 p.R17W 0.000 NULL pfam_DUF3583,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors PML HGNC RDM1 201299 genome.wustl.edu 37 17 34251737 34251737 + Missense_Mutation SNP C C G TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 17 34251737 34251737 C G SNP RDM1 ENST00000293273 human ensembl 70_37 -1 known missense c.439 p.D147H 0.198 pfam_Rad52_Rad22 pfam_RRM_dom,pfam_Rad52_Rad22,pfscan_RRM_dom - no_errors RDM1 HGNC REN 5972 genome.wustl.edu 37 1 204131262 204131262 + Missense_Mutation SNP C C G TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 1 204131262 204131262 C G SNP REN ENST00000272190 human ensembl 70_37 -1 known missense c.128 p.R43P 0.946 pfam_Propep_A1,superfamily_Peptidase_aspartic pfam_Peptidase_A1,pfam_Propep_A1,superfamily_Peptidase_aspartic,prints_Peptidase_A1 - no_errors REN HGNC RRM1 6240 genome.wustl.edu 37 11 4116010 4116010 + RNA SNP C C A TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 11 4116010 4116010 C A SNP RRM1 ENST00000532710 human ensembl 70_37 +1 known rna NULL NULL 0.866 - - - no_errors RRM1 HGNC RSPH6A 81492 genome.wustl.edu 37 19 46305454 46305454 + Missense_Mutation SNP C C G TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 19 46305454 46305454 C G SNP RSPH6A ENST00000221538 human ensembl 70_37 -1 known missense c.1722 p.E574D 1.000 pfam_Radial_spoke pfam_Radial_spoke - no_errors RSPH6A HGNC SELE 6401 genome.wustl.edu 37 1 169695912 169695912 + Missense_Mutation SNP G G A TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 1 169695912 169695912 G A SNP SELE ENST00000333360 human ensembl 70_37 -1 known missense c.1681 p.L561F 0.900 NULL pfam_Sushi_SCR_CCP,pfam_C-type_lectin,pfam_EG-like_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_C-type_lectin,smart_EG-like_dom,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily - no_errors SELE HGNC SGK494 124923 genome.wustl.edu 37 17 26940567 26940567 + Missense_Mutation SNP G G A TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 17 26940567 26940567 G A SNP SGK494 ENST00000301037 human ensembl 70_37 -1 known missense c.215 p.A72V 0.735 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 - no_errors SGK494 Uniprot_genename SGSM2 9905 genome.wustl.edu 37 17 2276743 2276743 + Missense_Mutation SNP C C T TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 17 2276743 2276743 C T SNP SGSM2 ENST00000268989 human ensembl 70_37 +1 known missense c.2036 p.S679L 1.000 superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom - no_errors SGSM2 HGNC SLAMF1 6504 genome.wustl.edu 37 1 160593894 160593894 + Missense_Mutation SNP C C T TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 1 160593894 160593894 C T SNP SLAMF1 ENST00000302035 human ensembl 70_37 -1 known missense c.782 p.R261K 0.255 NULL pfam_Sig_lymph_act_molc_N,pfscan_Ig-like - no_errors SLAMF1 HGNC SLC16A3 9123 genome.wustl.edu 37 17 80195676 80195676 + Missense_Mutation SNP A A G TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 17 80195676 80195676 A G SNP SLC16A3 ENST00000392339 human ensembl 70_37 +1 known missense c.1030 p.M344V 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt - no_errors SLC16A3 HGNC SLC25A5 292 genome.wustl.edu 37 X 118603747 118603747 + Missense_Mutation SNP A A T TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 X 118603747 118603747 A T SNP SLC25A5 ENST00000317881 human ensembl 70_37 +1 known missense c.235 p.I79F 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Aden_trnslctor - no_errors SLC25A5 HGNC SLC6A19 340024 genome.wustl.edu 37 5 1219645 1219645 + Silent SNP C C T TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 5 1219645 1219645 C T SNP SLC6A19 ENST00000304460 human ensembl 70_37 +1 known silent c.1404 p.L468 0.001 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan - no_errors SLC6A19 HGNC SMAD4 4089 genome.wustl.edu 37 18 48591919 48591919 + Missense_Mutation SNP G G A TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 18 48591919 48591919 G A SNP SMAD4 ENST00000342988 human ensembl 70_37 +1 known missense c.1082 p.R361H 1.000 pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD4 HGNC SPNS1 83985 genome.wustl.edu 37 16 28995555 28995555 + Missense_Mutation SNP G G A TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 16 28995555 28995555 G A SNP SPNS1 ENST00000311008 human ensembl 70_37 +1 known missense c.1522 p.D508N 0.995 NULL pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SPNS1 HGNC TDRKH 11022 genome.wustl.edu 37 1 151752566 151752566 + Silent SNP G G A TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 1 151752566 151752566 G A SNP TDRKH ENST00000368822 human ensembl 70_37 -1 known silent c.282 p.G94 0.714 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,pfam_Tudor,smart_KH_dom,smart_Tudor,pfscan_Tudor,pfscan_KH_dom_type_1 - no_errors TDRKH HGNC TMCC2 9911 genome.wustl.edu 37 1 205238339 205238339 + Missense_Mutation SNP G G A TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 1 205238339 205238339 G A SNP TMCC2 ENST00000358024 human ensembl 70_37 +1 known missense c.1009 p.E337K 1.000 pfam_Predicted_TM_coiled-coil_2 pfam_Predicted_TM_coiled-coil_2,superfamily_t-SNARE - no_errors TMCC2 HGNC TOM1L2 146691 genome.wustl.edu 37 17 17801972 17801972 + Nonsense_Mutation SNP G G A TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 17 17801972 17801972 G A SNP TOM1L2 ENST00000379504 human ensembl 70_37 -1 known nonsense c.154 p.R52* 0.642 pfam_VHS,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_VHS pfam_VHS,pfam_GAT,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_GAT,pfscan_VHS - no_errors TOM1L2 HGNC TTC40 54777 genome.wustl.edu 37 10 134647006 134647006 + Missense_Mutation SNP C C T TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 10 134647006 134647006 C T SNP TTC40 ENST00000263170 human ensembl 70_37 -1 known missense c.1456 p.D486N 0.004 NULL NULL - no_errors TTC40 HGNC TTN 7273 genome.wustl.edu 37 2 179406264 179406264 + Missense_Mutation SNP C C G TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 2 179406264 179406264 C G SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.89836 p.D29946H 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC USP33 23032 genome.wustl.edu 37 1 78189054 78189054 + Missense_Mutation SNP T T G TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 1 78189054 78189054 T G SNP USP33 ENST00000357428 human ensembl 70_37 -1 known missense c.1444 p.T482P 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Pept_C19_DUSP,pfam_Znf_UBP,smart_Znf_UBP,smart_Pept_C19_DUSP,pfscan_Znf_UBP,pfscan_Peptidase_C19 - no_errors USP33 HGNC WDR7 23335 genome.wustl.edu 37 18 54606544 54606544 + Silent SNP T T A TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 18 54606544 54606544 T A SNP WDR7 ENST00000254442 human ensembl 70_37 +1 known silent c.3984 p.V1328 0.956 superfamily_ARM-type_fold pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR7 HGNC ZFYVE19 84936 genome.wustl.edu 37 15 41099875 41099875 + Missense_Mutation SNP G G T TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 15 41099875 41099875 G T SNP ZFYVE19 ENST00000355341 human ensembl 70_37 +1 known missense c.88 p.G30C 0.000 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE19 HGNC ZNF521 25925 genome.wustl.edu 37 18 22805217 22805217 + Missense_Mutation SNP C C A TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 683d0637-fdc9-4afd-8338-bb1fdbcb5026 7956e9b1-d201-4a83-8ca2-d1ac1e723685 18 22805217 22805217 C A SNP ZNF521 ENST00000361524 human ensembl 70_37 -1 known missense c.2665 p.D889Y 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF521 HGNC