Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name_WU start_WU stop_WU reference_WU variant_WU type_WU gene_name_WU transcript_name_WU transcript_species_WU transcript_source_WU transcript_version_WU strand_WU transcript_status_WU trv_type_WU c_position_WU amino_acid_change_WU ucsc_cons_WU domain_WU all_domains_WU deletion_substructures_WU transcript_error_WU default_gene_name_WU gene_name_source_WU ensembl_gene_id normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumors_var_reads tumor_vaf EVS_EA EVS_AA EVS_All ANK2 0 genome.wustl.edu 37 4 114158316 114158316 + Silent SNP C C T TCGA-D8-A27L-01A-11D-A16D-09 TCGA-D8-A27L-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 10666107-dffb-4c51-b3ee-71e70cde7c88 39acbfee-141d-4c6a-bf04-abb40344659f 4 114158316 114158316 C T SNP ANK2 ENST00000357077 human ensembl 69_37n +1 known silent c.657 p.D219 0.994 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom 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 ENSG00000145362 48 0 0.00 53 10 15.87 - - - ATP13A2 0 genome.wustl.edu 37 1 17316666 17316666 + Missense_Mutation SNP C C T TCGA-D8-A27L-01A-11D-A16D-09 TCGA-D8-A27L-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 10666107-dffb-4c51-b3ee-71e70cde7c88 39acbfee-141d-4c6a-bf04-abb40344659f 1 17316666 17316666 C T SNP ATP13A2 ENST00000326735 human ensembl 69_37n -1 known missense c.2368 p.E790K 0.568 superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_unknown-pump-sp 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_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP13A2 HGNC ENSG00000159363 11 0 0.00 11 4 26.67 - - - AZI2 0 genome.wustl.edu 37 3 28381965 28381965 + Missense_Mutation SNP G G C TCGA-D8-A27L-01A-11D-A16D-09 TCGA-D8-A27L-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 10666107-dffb-4c51-b3ee-71e70cde7c88 39acbfee-141d-4c6a-bf04-abb40344659f 3 28381965 28381965 G C SNP AZI2 ENST00000479665 human ensembl 69_37n -1 known missense c.144 p.I48M 1.000 NULL NULL - no_errors AZI2 HGNC ENSG00000163512 139 0 0.00 135 15 10.00 - - - C5orf22 0 genome.wustl.edu 37 5 31545752 31545752 + Splice_Site SNP G G A TCGA-D8-A27L-01A-11D-A16D-09 TCGA-D8-A27L-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 10666107-dffb-4c51-b3ee-71e70cde7c88 39acbfee-141d-4c6a-bf04-abb40344659f 5 31545752 31545752 G A SNP C5orf22 ENST00000325366 human ensembl 69_37n +1 known splice_site c.993-1 e7-1 1.000 - - - no_errors C5orf22 HGNC ENSG00000082213 180 0 0.00 159 49 23.56 - - - CAD 0 genome.wustl.edu 37 2 27447710 27447710 + Missense_Mutation SNP A A G TCGA-D8-A27L-01A-11D-A16D-09 TCGA-D8-A27L-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 10666107-dffb-4c51-b3ee-71e70cde7c88 39acbfee-141d-4c6a-bf04-abb40344659f 2 27447710 27447710 A G SNP CAD ENST00000264705 human ensembl 69_37n +1 known missense c.1352 p.Y451C 1.000 pfam_CarbamoylP_synth_lsu_N,superfamily_PreATP-grasp_fold,tigrfam_CarbamoylP_synth_lsu pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE_1,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_fold,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf_euk,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf_euk - no_errors CAD HGNC ENSG00000084774 92 0 0.00 76 22 22.45 - - - FAM131B 0 genome.wustl.edu 37 7 143056010 143056010 + Missense_Mutation SNP G G C TCGA-D8-A27L-01A-11D-A16D-09 TCGA-D8-A27L-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 10666107-dffb-4c51-b3ee-71e70cde7c88 39acbfee-141d-4c6a-bf04-abb40344659f 7 143056010 143056010 G C SNP FAM131B ENST00000443739 human ensembl 69_37n -1 known missense c.376 p.Q126E 1.000 NULL NULL - no_errors FAM131B HGNC ENSG00000159784 41 0 0.00 38 5 11.63 - - - FOXP1 0 genome.wustl.edu 37 3 71021818 71021818 + Missense_Mutation SNP G G A TCGA-D8-A27L-01A-11D-A16D-09 TCGA-D8-A27L-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 10666107-dffb-4c51-b3ee-71e70cde7c88 39acbfee-141d-4c6a-bf04-abb40344659f 3 71021818 71021818 G A SNP FOXP1 ENST00000318789 human ensembl 69_37n -1 known missense c.1540 p.R514C 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXP1 HGNC ENSG00000114861 410 0 0.00 286 85 22.79 - - - FRMPD4 0 genome.wustl.edu 37 X 12736552 12736552 + Missense_Mutation SNP C C A TCGA-D8-A27L-01A-11D-A16D-09 TCGA-D8-A27L-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 10666107-dffb-4c51-b3ee-71e70cde7c88 39acbfee-141d-4c6a-bf04-abb40344659f X 12736552 12736552 C A SNP FRMPD4 ENST00000380682 human ensembl 69_37n +1 known missense c.3607 p.Q1203K 1.000 NULL pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ,pfscan_WW_Rsp5_WWP - no_errors FRMPD4 HGNC ENSG00000169933 32 0 0.00 48 17 26.15 - - - GREB1L 0 genome.wustl.edu 37 18 19088425 19088425 + Silent SNP C C T TCGA-D8-A27L-01A-11D-A16D-09 TCGA-D8-A27L-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 10666107-dffb-4c51-b3ee-71e70cde7c88 39acbfee-141d-4c6a-bf04-abb40344659f 18 19088425 19088425 C T SNP GREB1L ENST00000424526 human ensembl 69_37n +1 known silent c.4608 p.H1536 0.998 NULL NULL - no_errors GREB1L HGNC ENSG00000141449 45 0 0.00 50 8 13.79 - - - HS3ST1 0 genome.wustl.edu 37 4 11401382 11401382 + Missense_Mutation SNP G G A TCGA-D8-A27L-01A-11D-A16D-09 TCGA-D8-A27L-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 10666107-dffb-4c51-b3ee-71e70cde7c88 39acbfee-141d-4c6a-bf04-abb40344659f 4 11401382 11401382 G A SNP HS3ST1 ENST00000002596 human ensembl 69_37n -1 known missense c.248 p.A83V 1.000 pfam_Sulfotransferase_dom pfam_Sulfotransferase_dom - no_errors HS3ST1 HGNC ENSG00000002587 8 0 0.00 13 6 31.58 - - - HS6ST1 0 genome.wustl.edu 37 2 129075877 129075877 + Missense_Mutation SNP G G T TCGA-D8-A27L-01A-11D-A16D-09 TCGA-D8-A27L-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 10666107-dffb-4c51-b3ee-71e70cde7c88 39acbfee-141d-4c6a-bf04-abb40344659f 2 129075877 129075877 G T SNP HS6ST1 ENST00000259241 human ensembl 69_37n -1 known missense c.261 p.D87E 1.000 pfam_Sulfotransferase pfam_Sulfotransferase - no_errors HS6ST1 HGNC ENSG00000136720 8 0 0.00 3 6 66.67 - - - KANSL3 0 genome.wustl.edu 37 2 97268573 97268573 + Missense_Mutation SNP G G C TCGA-D8-A27L-01A-11D-A16D-09 TCGA-D8-A27L-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 10666107-dffb-4c51-b3ee-71e70cde7c88 39acbfee-141d-4c6a-bf04-abb40344659f 2 97268573 97268573 G C SNP KANSL3 ENST00000431828 human ensembl 69_37n -1 known missense c.2176 p.Q726E 1.000 NULL NULL - no_errors KANSL3 HGNC ENSG00000114982 68 0 0.00 68 14 17.07 - - - KAT8 0 genome.wustl.edu 37 16 31141789 31141789 + Missense_Mutation SNP C C T TCGA-D8-A27L-01A-11D-A16D-09 TCGA-D8-A27L-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 10666107-dffb-4c51-b3ee-71e70cde7c88 39acbfee-141d-4c6a-bf04-abb40344659f 16 31141789 31141789 C T SNP KAT8 ENST00000448516 human ensembl 69_37n +1 known missense c.1019 p.S340F 1.000 pfam_MOZ_SAS,superfamily_Acyl_CoA_acyltransferase pfam_MOZ_SAS,pfam_Tudor-knot,superfamily_Acyl_CoA_acyltransferase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow - no_errors KAT8 HGNC ENSG00000103510 25 0 0.00 30 13 30.23 - - - KDM3A 0 genome.wustl.edu 37 2 86709187 86709187 + Missense_Mutation SNP G G A TCGA-D8-A27L-01A-11D-A16D-09 TCGA-D8-A27L-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 10666107-dffb-4c51-b3ee-71e70cde7c88 39acbfee-141d-4c6a-bf04-abb40344659f 2 86709187 86709187 G A SNP KDM3A ENST00000312912 human ensembl 69_37n +1 known missense c.2647 p.G883S 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3A HGNC ENSG00000115548 153 0 0.00 165 41 19.90 - - - LRRC15 0 genome.wustl.edu 37 3 194080618 194080618 + Silent SNP G G A TCGA-D8-A27L-01A-11D-A16D-09 TCGA-D8-A27L-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 10666107-dffb-4c51-b3ee-71e70cde7c88 39acbfee-141d-4c6a-bf04-abb40344659f 3 194080618 194080618 G A SNP LRRC15 ENST00000439944 human ensembl 69_37n -1 known silent c.1173 p.F391 0.002 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRRC15 HGNC ENSG00000172061 83 0 0.00 55 16 22.54 - - - LRRC15 0 genome.wustl.edu 37 3 194080750 194080750 + Silent SNP C C T TCGA-D8-A27L-01A-11D-A16D-09 TCGA-D8-A27L-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 10666107-dffb-4c51-b3ee-71e70cde7c88 39acbfee-141d-4c6a-bf04-abb40344659f 3 194080750 194080750 C T SNP LRRC15 ENST00000439944 human ensembl 69_37n -1 known silent c.1041 p.T347 0.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRRC15 HGNC ENSG00000172061 50 0 0.00 44 7 13.73 - - - MAP3K1 0 genome.wustl.edu 37 5 56180536 56180537 + Frame_Shift_Ins INS - - A TCGA-D8-A27L-01A-11D-A16D-09 TCGA-D8-A27L-10A-01D-A16D-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 10666107-dffb-4c51-b3ee-71e70cde7c88 39acbfee-141d-4c6a-bf04-abb40344659f 5 56180536 56180537 - A INS MAP3K1 ENST00000399503 human ensembl 69_37n +1 novel frame_shift_ins c.3865_3866 p.A1290fs 1.000:1.000 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,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 ENSG00000095015 71 0 0.00 71 17 19.32 - - - MAP3K1 0 genome.wustl.edu 37 5 56180586 56180588 + In_Frame_Del DEL CAT CAT - TCGA-D8-A27L-01A-11D-A16D-09 TCGA-D8-A27L-10A-01D-A16D-09 CAT CAT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 10666107-dffb-4c51-b3ee-71e70cde7c88 39acbfee-141d-4c6a-bf04-abb40344659f 5 56180586 56180588 CAT - DEL MAP3K1 ENST00000399503 human ensembl 69_37n +1 novel in_frame_del c.3915_3917 p.I1307in_frame_del 1.000:1.000:1.000 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,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 ENSG00000095015 75 0 0.00 84 13 13.27 - - - MASP1 0 genome.wustl.edu 37 3 186953790 186953790 + Silent SNP G G A TCGA-D8-A27L-01A-11D-A16D-09 TCGA-D8-A27L-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 10666107-dffb-4c51-b3ee-71e70cde7c88 39acbfee-141d-4c6a-bf04-abb40344659f 3 186953790 186953790 G A SNP MASP1 ENST00000296280 human ensembl 69_37n -1 known silent c.1869 p.P623 0.005 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_CUB,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_EGF-like_Ca-bd,smart_Sushi_SCR_CCP,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_CUB,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1_S6 - no_errors MASP1 HGNC ENSG00000127241 53 0 0.00 51 17 25.00 - - - MGAM 0 genome.wustl.edu 37 7 141785701 141785701 + Silent SNP C C T TCGA-D8-A27L-01A-11D-A16D-09 TCGA-D8-A27L-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 10666107-dffb-4c51-b3ee-71e70cde7c88 39acbfee-141d-4c6a-bf04-abb40344659f 7 141785701 141785701 C T SNP MGAM ENST00000475668 human ensembl 69_37n +1 putative silent c.6579 p.A2193 0.000 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil - no_errors MGAM HGNC ENSG00000257335 32 0 0.00 26 13 33.33 - - - NAV1 0 genome.wustl.edu 37 1 201772760 201772760 + Nonsense_Mutation SNP C C G TCGA-D8-A27L-01A-11D-A16D-09 TCGA-D8-A27L-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 10666107-dffb-4c51-b3ee-71e70cde7c88 39acbfee-141d-4c6a-bf04-abb40344659f 1 201772760 201772760 C G SNP NAV1 ENST00000367296 human ensembl 69_37n +1 known nonsense c.3557 p.S1186* 1.000 NULL smart_AAA+_ATPase - no_errors NAV1 HGNC ENSG00000134369 58 0 0.00 65 9 10.59 - - - NEIL1 0 genome.wustl.edu 37 15 75641328 75641328 + Missense_Mutation SNP G G A TCGA-D8-A27L-01A-11D-A16D-09 TCGA-D8-A27L-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 10666107-dffb-4c51-b3ee-71e70cde7c88 39acbfee-141d-4c6a-bf04-abb40344659f 15 75641328 75641328 G A SNP NEIL1 ENST00000355059 human ensembl 69_37n +1 known missense c.82 p.E28K 1.000 pfam_DNA_glycosylase/AP_lyase_cat,superfamily_DNA_glycosylase/AP_lyase_cat,smart_DNA_glycosylase/AP_lyase_cat,pfscan_DNA_glycosylase/AP_lyase_cat pfam_Endonuclease-VIII_DNA-bd,pfam_DNA_glycosylase/AP_lyase_cat,pfam_DNA_glyclase/AP_lyase_DNA-bd,superfamily_DNA_glycosylase/AP_lyase_cat,superfamily_Ribosomal_S13-like_H2TH,smart_DNA_glycosylase/AP_lyase_cat,pfscan_DNA_glycosylase/AP_lyase_cat - no_errors NEIL1 HGNC ENSG00000140398 9 0 0.00 11 8 42.11 - - - NPAS1 0 genome.wustl.edu 37 19 47535538 47535538 + Missense_Mutation SNP C C T TCGA-D8-A27L-01A-11D-A16D-09 TCGA-D8-A27L-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 10666107-dffb-4c51-b3ee-71e70cde7c88 39acbfee-141d-4c6a-bf04-abb40344659f 19 47535538 47535538 C T SNP NPAS1 ENST00000449844 human ensembl 69_37n +1 known missense c.361 p.P121S 0.980 NULL pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,pfscan_PAS,pfscan_HLH_DNA-bd - no_errors NPAS1 HGNC ENSG00000130751 18 0 0.00 11 5 31.25 - - - OTUB1 0 genome.wustl.edu 37 11 63764394 63764394 + Missense_Mutation SNP T T C TCGA-D8-A27L-01A-11D-A16D-09 TCGA-D8-A27L-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 10666107-dffb-4c51-b3ee-71e70cde7c88 39acbfee-141d-4c6a-bf04-abb40344659f 11 63764394 63764394 T C SNP OTUB1 ENST00000422031 human ensembl 69_37n +1 known missense c.515 p.I172T 1.000 pfam_Peptidase_C65_otubain,pfam_OTU,pirsf_Ubiquitin_thioesterase_Otubain,pfscan_OTU pfam_Peptidase_C65_otubain,pfam_OTU,pirsf_Ubiquitin_thioesterase_Otubain,pfscan_OTU - no_errors OTUB1 HGNC ENSG00000167770 60 0 0.00 32 9 21.95 - - - PAK3 0 genome.wustl.edu 37 X 110385364 110385364 + Silent SNP T T A TCGA-D8-A27L-01A-11D-A16D-09 TCGA-D8-A27L-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 10666107-dffb-4c51-b3ee-71e70cde7c88 39acbfee-141d-4c6a-bf04-abb40344659f X 110385364 110385364 T A SNP PAK3 ENST00000360648 human ensembl 69_37n +1 known silent c.216 p.L72 1.000 pfam_PAK_box_Rho-bd,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAK_box_Rho-bd,superfamily_Kinase-like_dom,smart_PAK_box_Rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAK_box_Rho-bd,pfscan_Prot_kinase_cat_dom - no_errors PAK3 HGNC ENSG00000077264 170 0 0.00 183 27 12.86 - - - PCDHGB6 0 genome.wustl.edu 37 5 140788421 140788421 + Missense_Mutation SNP G G A TCGA-D8-A27L-01A-11D-A16D-09 TCGA-D8-A27L-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 10666107-dffb-4c51-b3ee-71e70cde7c88 39acbfee-141d-4c6a-bf04-abb40344659f 5 140788421 140788421 G A SNP PCDHGB6 ENST00000520790 human ensembl 69_37n +1 known missense c.652 p.G218R 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB6 HGNC ENSG00000253305 49 0 0.00 26 9 25.71 - - - PIK3CA 0 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-D8-A27L-01A-11D-A16D-09 TCGA-D8-A27L-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 10666107-dffb-4c51-b3ee-71e70cde7c88 39acbfee-141d-4c6a-bf04-abb40344659f 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 117 0 0.00 63 25 28.09 - - - POM121L9P 0 genome.wustl.edu 37 22 24659633 24659633 + RNA SNP G G A TCGA-D8-A27L-01A-11D-A16D-09 TCGA-D8-A27L-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 10666107-dffb-4c51-b3ee-71e70cde7c88 39acbfee-141d-4c6a-bf04-abb40344659f 22 24659633 24659633 G A SNP POM121L9P ENST00000414583 human ensembl 69_37n +1 known rna NULL NULL 0.997 - - - no_errors POM121L9P HGNC ENSG00000128262 11 0 0.00 7 5 41.67 - - - PPRC1 0 genome.wustl.edu 37 10 103908402 103908402 + Missense_Mutation SNP C C T TCGA-D8-A27L-01A-11D-A16D-09 TCGA-D8-A27L-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 10666107-dffb-4c51-b3ee-71e70cde7c88 39acbfee-141d-4c6a-bf04-abb40344659f 10 103908402 103908402 C T SNP PPRC1 ENST00000278070 human ensembl 69_37n +1 known missense c.4568 p.S1523L 0.024 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PPRC1 HGNC ENSG00000148840 85 0 0.00 68 36 34.62 - - - PTEN 0 genome.wustl.edu 37 10 89624271 89624272 + Frame_Shift_Ins INS - - T TCGA-D8-A27L-01A-11D-A16D-09 TCGA-D8-A27L-10A-01D-A16D-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 10666107-dffb-4c51-b3ee-71e70cde7c88 39acbfee-141d-4c6a-bf04-abb40344659f 10 89624271 89624272 - T INS PTEN ENST00000371953 human ensembl 69_37n +1 known frame_shift_ins c.45_46 p.Y15fs 1.000:1.000 pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Phosphatase_tensin-typ pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors PTEN HGNC ENSG00000171862 143 0 0.00 117 35 23.03 - - - RERE 0 genome.wustl.edu 37 1 8426006 8426006 + Nonsense_Mutation SNP C C T TCGA-D8-A27L-01A-11D-A16D-09 TCGA-D8-A27L-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 10666107-dffb-4c51-b3ee-71e70cde7c88 39acbfee-141d-4c6a-bf04-abb40344659f 1 8426006 8426006 C T SNP RERE ENST00000337907 human ensembl 69_37n -1 known nonsense c.1313 p.W438* 1.000 superfamily_Homeodomain-like,smart_SANT/Myb pfam_Atrophin-like,pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom - no_errors RERE HGNC ENSG00000142599 52 0 0.00 44 8 15.38 - - - RHOT2 0 genome.wustl.edu 37 16 723516 723516 + Silent SNP C C T TCGA-D8-A27L-01A-11D-A16D-09 TCGA-D8-A27L-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 10666107-dffb-4c51-b3ee-71e70cde7c88 39acbfee-141d-4c6a-bf04-abb40344659f 16 723516 723516 C T SNP RHOT2 ENST00000315082 human ensembl 69_37n +1 known silent c.1767 p.F589 1.000 pirsf_Small_GTPase_Miro pirsf_Small_GTPase_Miro,pfam_EF_hand_assoc_2,pfam_MIRO-like,pfam_EF_hand_assoc_1,pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,pfscan_EF_HAND_2 - no_errors RHOT2 HGNC ENSG00000140983 31 0 0.00 34 17 33.33 - - - SGK2 0 genome.wustl.edu 37 20 42195054 42195054 + Missense_Mutation SNP G G A TCGA-D8-A27L-01A-11D-A16D-09 TCGA-D8-A27L-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 10666107-dffb-4c51-b3ee-71e70cde7c88 39acbfee-141d-4c6a-bf04-abb40344659f 20 42195054 42195054 G A SNP SGK2 ENST00000341458 human ensembl 69_37n +1 known missense c.99 p.M33I 0.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom - no_errors SGK2 HGNC ENSG00000101049 60 0 0.00 90 26 22.41 - - - TMPRSS6 0 genome.wustl.edu 37 22 37482397 37482397 + Missense_Mutation SNP G G A TCGA-D8-A27L-01A-11D-A16D-09 TCGA-D8-A27L-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 10666107-dffb-4c51-b3ee-71e70cde7c88 39acbfee-141d-4c6a-bf04-abb40344659f 22 37482397 37482397 G A SNP TMPRSS6 ENST00000381792 human ensembl 69_37n -1 known missense c.899 p.A300V 0.972 pirsf_Pept_S1A_matriptase-2,superfamily_CUB pirsf_Pept_S1A_matriptase-2,pfam_Peptidase_S1_S6,pfam_LDrepeatLR_classA_rpt,pfam_SEA,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1_S6 - no_errors TMPRSS6 HGNC ENSG00000187045 13 0 0.00 14 5 26.32 - - - ZNF254 0 genome.wustl.edu 37 19 24270126 24270126 + Missense_Mutation SNP G G A TCGA-D8-A27L-01A-11D-A16D-09 TCGA-D8-A27L-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 10666107-dffb-4c51-b3ee-71e70cde7c88 39acbfee-141d-4c6a-bf04-abb40344659f 19 24270126 24270126 G A SNP ZNF254 ENST00000357002 human ensembl 69_37n +1 known missense c.17 p.R6K 0.004 superfamily_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 ZNF254 HGNC ENSG00000213096 105 0 0.00 79 13 14.13 - - - ZNF417 0 genome.wustl.edu 37 19 58423433 58423433 + Missense_Mutation SNP G G A TCGA-D8-A27L-01A-11D-A16D-09 TCGA-D8-A27L-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 10666107-dffb-4c51-b3ee-71e70cde7c88 39acbfee-141d-4c6a-bf04-abb40344659f 19 58423433 58423433 G A SNP ZNF417 ENST00000312026 human ensembl 69_37n -1 known missense c.158 p.S53L 0.257 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 ZNF417 HGNC ENSG00000173480 150 0 0.00 142 23 13.94 - - - ZNF483 0 genome.wustl.edu 37 9 114290002 114290002 + Silent SNP G G A TCGA-D8-A27L-01A-11D-A16D-09 TCGA-D8-A27L-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 10666107-dffb-4c51-b3ee-71e70cde7c88 39acbfee-141d-4c6a-bf04-abb40344659f 9 114290002 114290002 G A SNP ZNF483 ENST00000309235 human ensembl 69_37n +1 known silent c.327 p.R109 1.000 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF483 HGNC ENSG00000173258 100 0 0.00 79 28 26.17 - - -