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 AKAP5 9495 genome.wustl.edu 37 14 64936170 64936170 + Missense_Mutation SNP C C T TCGA-EA-A556-01A-11D-A26G-09 TCGA-EA-A556-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c425e47-7f54-4c68-9be6-d58b4b980740 e6f0f4ac-02bd-44c2-9190-a1f437b2f83c 14 64936170 64936170 C T SNP AKAP5 ENST00000320636 human ensembl 70_37 +1 known missense c.1058 p.T353I 0.085 NULL pfam_Pkinase-A_anch_WSK-motif - no_errors AKAP5 HGNC ALMS1 7840 genome.wustl.edu 37 2 73613031 73613032 + In_Frame_Ins INS - - GGA TCGA-EA-A556-01A-11D-A26G-09 TCGA-EA-A556-10A-01D-A26G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c425e47-7f54-4c68-9be6-d58b4b980740 e6f0f4ac-02bd-44c2-9190-a1f437b2f83c 2 73613031 73613032 - GGA INS ALMS1 ENST00000264448 human ensembl 70_37 +1 known in_frame_ins c.35_36 p.16in_frame_insE 0.999:0.989 NULL NULL - no_errors ALMS1 HGNC ANXA1 301 genome.wustl.edu 37 9 75783796 75783797 + RNA INS - - GTGT TCGA-EA-A556-01A-11D-A26G-09 TCGA-EA-A556-10A-01D-A26G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c425e47-7f54-4c68-9be6-d58b4b980740 e6f0f4ac-02bd-44c2-9190-a1f437b2f83c 9 75783796 75783797 - GTGT INS ANXA1 ENST00000491192 human ensembl 70_37 +1 known rna NULL NULL 0.000:0.003 - - - no_errors ANXA1 HGNC ARHGAP22 58504 genome.wustl.edu 37 10 49791043 49791043 + Silent SNP C C G TCGA-EA-A556-01A-11D-A26G-09 TCGA-EA-A556-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c425e47-7f54-4c68-9be6-d58b4b980740 e6f0f4ac-02bd-44c2-9190-a1f437b2f83c 10 49791043 49791043 C G SNP ARHGAP22 ENST00000417912 human ensembl 70_37 -1 known silent c.189 p.G63 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP22 HGNC BAZ2B 29994 genome.wustl.edu 37 2 160318094 160318094 + RNA SNP G G T TCGA-EA-A556-01A-11D-A26G-09 TCGA-EA-A556-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c425e47-7f54-4c68-9be6-d58b4b980740 e6f0f4ac-02bd-44c2-9190-a1f437b2f83c 2 160318094 160318094 G T SNP BAZ2B ENST00000483316 human ensembl 70_37 -1 known rna NULL NULL 0.964 - - - no_errors BAZ2B HGNC BRIX1 55299 genome.wustl.edu 37 5 34925328 34925329 + Splice_Site INS - - A TCGA-EA-A556-01A-11D-A26G-09 TCGA-EA-A556-10A-01D-A26G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c425e47-7f54-4c68-9be6-d58b4b980740 e6f0f4ac-02bd-44c2-9190-a1f437b2f83c 5 34925328 34925329 - A INS BRIX1 ENST00000336767 human ensembl 70_37 +1 known splice_site_ins c.793-3_793-2 e10-2 0.213:0.997 - - - no_errors BRIX1 HGNC CACNA1E 777 genome.wustl.edu 37 1 181767481 181767481 + Silent SNP C C A TCGA-EA-A556-01A-11D-A26G-09 TCGA-EA-A556-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c425e47-7f54-4c68-9be6-d58b4b980740 e6f0f4ac-02bd-44c2-9190-a1f437b2f83c 1 181767481 181767481 C A SNP CACNA1E ENST00000367573 human ensembl 70_37 +1 known silent c.6453 p.T2151 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC CCDC11 220136 genome.wustl.edu 37 18 47792730 47792730 + Silent SNP G G T TCGA-EA-A556-01A-11D-A26G-09 TCGA-EA-A556-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c425e47-7f54-4c68-9be6-d58b4b980740 e6f0f4ac-02bd-44c2-9190-a1f437b2f83c 18 47792730 47792730 G T SNP CCDC11 ENST00000398545 human ensembl 70_37 -1 known silent c.45 p.G15 0.996 NULL NULL - no_errors CCDC11 HGNC CCPG1 9236 genome.wustl.edu 37 15 55653051 55653051 + Missense_Mutation SNP T T A TCGA-EA-A556-01A-11D-A26G-09 TCGA-EA-A556-10A-01D-A26G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c425e47-7f54-4c68-9be6-d58b4b980740 e6f0f4ac-02bd-44c2-9190-a1f437b2f83c 15 55653051 55653051 T A SNP CCPG1 ENST00000310958 human ensembl 70_37 -1 known missense c.920 p.N307I 1.000 NULL NULL - no_errors CCPG1 HGNC CDC27 996 genome.wustl.edu 37 17 45234327 45234327 + Missense_Mutation SNP C C T TCGA-EA-A556-01A-11D-A26G-09 TCGA-EA-A556-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c425e47-7f54-4c68-9be6-d58b4b980740 e6f0f4ac-02bd-44c2-9190-a1f437b2f83c 17 45234327 45234327 C T SNP CDC27 ENST00000531206 human ensembl 70_37 -1 known missense c.794 p.G265D 1.000 NULL pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CDC27 HGNC CHD4 1108 genome.wustl.edu 37 12 6701194 6701194 + Missense_Mutation SNP T T G TCGA-EA-A556-01A-11D-A26G-09 TCGA-EA-A556-10A-01D-A26G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c425e47-7f54-4c68-9be6-d58b4b980740 e6f0f4ac-02bd-44c2-9190-a1f437b2f83c 12 6701194 6701194 T G SNP CHD4 ENST00000309577 human ensembl 70_37 -1 known missense c.2978 p.N993T 1.000 pfam_SNF2_N pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD4 HGNC DOPEY1 23033 genome.wustl.edu 37 6 83877984 83877984 + RNA SNP C C T TCGA-EA-A556-01A-11D-A26G-09 TCGA-EA-A556-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c425e47-7f54-4c68-9be6-d58b4b980740 e6f0f4ac-02bd-44c2-9190-a1f437b2f83c 6 83877984 83877984 C T SNP DOPEY1 ENST00000484282 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors DOPEY1 HGNC ENSG00000173213 0 genome.wustl.edu 37 18 49208 49208 + Missense_Mutation SNP G G A TCGA-EA-A556-01A-11D-A26G-09 TCGA-EA-A556-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c425e47-7f54-4c68-9be6-d58b4b980740 e6f0f4ac-02bd-44c2-9190-a1f437b2f83c 18 49208 49208 G A SNP ENSG00000173213 ENST00000573909 human ensembl 70_37 -1 putative missense c.11 p.P4L 0.997 NULL pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin - no_errors RP11-683L23.1 Clone_based_vega_gene ENSG00000212104 0 genome.wustl.edu 37 3 76467129 76467129 + RNA SNP A A C TCGA-EA-A556-01A-11D-A26G-09 TCGA-EA-A556-10A-01D-A26G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c425e47-7f54-4c68-9be6-d58b4b980740 e6f0f4ac-02bd-44c2-9190-a1f437b2f83c 3 76467129 76467129 A C SNP ENSG00000212104 ENST00000390815 human ensembl 70_37 -1 novel rna NULL NULL 0.283 - - - no_errors AC026877.1 Clone_based_ensembl_gene ERCC6 2074 genome.wustl.edu 37 10 50740702 50740702 + Silent SNP G G A TCGA-EA-A556-01A-11D-A26G-09 TCGA-EA-A556-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c425e47-7f54-4c68-9be6-d58b4b980740 e6f0f4ac-02bd-44c2-9190-a1f437b2f83c 10 50740702 50740702 G A SNP ERCC6 ENST00000355832 human ensembl 70_37 -1 known silent c.309 p.D103 0.013 NULL pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6 HGNC ERICH2 285141 genome.wustl.edu 37 2 171649410 171649411 + Frame_Shift_Ins INS - - A TCGA-EA-A556-01A-11D-A26G-09 TCGA-EA-A556-10A-01D-A26G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c425e47-7f54-4c68-9be6-d58b4b980740 e6f0f4ac-02bd-44c2-9190-a1f437b2f83c 2 171649410 171649411 - A INS ERICH2 ENST00000409885 human ensembl 70_37 +1 novel frame_shift_ins c.254_255 p.L88fs 1.000:1.000 NULL NULL - no_errors ERICH2 HGNC F9 2158 genome.wustl.edu 37 X 138633355 138633355 + Missense_Mutation SNP C C A TCGA-EA-A556-01A-11D-A26G-09 TCGA-EA-A556-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c425e47-7f54-4c68-9be6-d58b4b980740 e6f0f4ac-02bd-44c2-9190-a1f437b2f83c X 138633355 138633355 C A SNP F9 ENST00000218099 human ensembl 70_37 +1 known missense c.655 p.Q219K 0.000 superfamily_Pept_cys/ser_Trypsin-like,pirsf_Pept_S1A_FX pfam_Peptidase_S1_S6,pfam_GLA_domain,pfam_EG-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Peptidase_S1_S6,pirsf_Pept_S1A_FX,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A,prints_GLA_domain - no_errors F9 HGNC FBN1 2200 genome.wustl.edu 37 15 48760655 48760655 + Silent SNP G G A TCGA-EA-A556-01A-11D-A26G-09 TCGA-EA-A556-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c425e47-7f54-4c68-9be6-d58b4b980740 e6f0f4ac-02bd-44c2-9190-a1f437b2f83c 15 48760655 48760655 G A SNP FBN1 ENST00000316623 human ensembl 70_37 -1 known silent c.4536 p.D1512 0.238 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom pfam_EGF-like_Ca-bd,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN1 HGNC FLNB 2317 genome.wustl.edu 37 3 58127612 58127612 + Nonsense_Mutation SNP G G T TCGA-EA-A556-01A-11D-A26G-09 TCGA-EA-A556-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c425e47-7f54-4c68-9be6-d58b4b980740 e6f0f4ac-02bd-44c2-9190-a1f437b2f83c 3 58127612 58127612 G T SNP FLNB ENST00000295956 human ensembl 70_37 +1 known nonsense c.5137 p.E1713* 0.963 pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNB HGNC GABRD 2563 genome.wustl.edu 37 1 1961008 1961008 + Missense_Mutation SNP C C T TCGA-EA-A556-01A-11D-A26G-09 TCGA-EA-A556-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c425e47-7f54-4c68-9be6-d58b4b980740 e6f0f4ac-02bd-44c2-9190-a1f437b2f83c 1 1961008 1961008 C T SNP GABRD ENST00000378585 human ensembl 70_37 +1 known missense c.866 p.T289M 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAd_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRD HGNC GABRD 2563 genome.wustl.edu 37 1 1961652 1961652 + Silent SNP C C T TCGA-EA-A556-01A-11D-A26G-09 TCGA-EA-A556-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c425e47-7f54-4c68-9be6-d58b4b980740 e6f0f4ac-02bd-44c2-9190-a1f437b2f83c 1 1961652 1961652 C T SNP GABRD ENST00000378585 human ensembl 70_37 +1 known silent c.1290 p.Y430 0.902 superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAd_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRD HGNC GIT2 9815 genome.wustl.edu 37 12 110427511 110427511 + Missense_Mutation SNP G G T TCGA-EA-A556-01A-11D-A26G-09 TCGA-EA-A556-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c425e47-7f54-4c68-9be6-d58b4b980740 e6f0f4ac-02bd-44c2-9190-a1f437b2f83c 12 110427511 110427511 G T SNP GIT2 ENST00000355312 human ensembl 70_37 -1 known missense c.283 p.P95T 1.000 pfam_ArfGAP,superfamily_Ankyrin_rpt-contain_dom,smart_ArfGAP,pfscan_ArfGAP pfam_GIT1_C,pfam_GIT_SHD,pfam_ArfGAP,superfamily_Ankyrin_rpt-contain_dom,smart_ArfGAP,smart_Ankyrin_rpt,smart_GIT_SHD,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_ArfGAP,prints_ArfGAP - no_errors GIT2 HGNC IFI16 3428 genome.wustl.edu 37 1 158988186 158988186 + Missense_Mutation SNP C C A TCGA-EA-A556-01A-11D-A26G-09 TCGA-EA-A556-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c425e47-7f54-4c68-9be6-d58b4b980740 e6f0f4ac-02bd-44c2-9190-a1f437b2f83c 1 158988186 158988186 C A SNP IFI16 ENST00000295809 human ensembl 70_37 +1 known missense c.717 p.F239L 0.072 pfam_HIN200/IF120x,pfscan_HIN200/IF120x pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors IFI16 HGNC KRT72 140807 genome.wustl.edu 37 12 52980755 52980755 + Silent SNP G G A TCGA-EA-A556-01A-11D-A26G-09 TCGA-EA-A556-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c425e47-7f54-4c68-9be6-d58b4b980740 e6f0f4ac-02bd-44c2-9190-a1f437b2f83c 12 52980755 52980755 G A SNP KRT72 ENST00000293745 human ensembl 70_37 -1 known silent c.1320 p.G440 0.857 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT72 HGNC LIMK1 3984 genome.wustl.edu 37 7 73520242 73520242 + Missense_Mutation SNP T T A TCGA-EA-A556-01A-11D-A26G-09 TCGA-EA-A556-10A-01D-A26G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c425e47-7f54-4c68-9be6-d58b4b980740 e6f0f4ac-02bd-44c2-9190-a1f437b2f83c 7 73520242 73520242 T A SNP LIMK1 ENST00000336180 human ensembl 70_37 +1 known missense c.646 p.S216T 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Znf_LIM,pfam_PDZ,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,superfamily_PDZ,smart_Znf_LIM,smart_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_LIM,pfscan_PDZ,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LIMK1 HGNC LINC00303 284573 genome.wustl.edu 37 1 204006330 204006330 + RNA SNP G G C TCGA-EA-A556-01A-11D-A26G-09 TCGA-EA-A556-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c425e47-7f54-4c68-9be6-d58b4b980740 e6f0f4ac-02bd-44c2-9190-a1f437b2f83c 1 204006330 204006330 G C SNP LINC00303 ENST00000367207 human ensembl 70_37 -1 known rna NULL NULL 0.019 - - - no_errors LINC00303 HGNC MAP1A 4130 genome.wustl.edu 37 15 43814937 43814937 + Missense_Mutation SNP G G C TCGA-EA-A556-01A-11D-A26G-09 TCGA-EA-A556-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c425e47-7f54-4c68-9be6-d58b4b980740 e6f0f4ac-02bd-44c2-9190-a1f437b2f83c 15 43814937 43814937 G C SNP MAP1A ENST00000399453 human ensembl 70_37 +1 known missense c.1266 p.E422D 1.000 NULL NULL - no_errors MAP1A HGNC MMP25 64386 genome.wustl.edu 37 16 3105840 3105840 + RNA SNP C C T TCGA-EA-A556-01A-11D-A26G-09 TCGA-EA-A556-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c425e47-7f54-4c68-9be6-d58b4b980740 e6f0f4ac-02bd-44c2-9190-a1f437b2f83c 16 3105840 3105840 C T SNP MMP25 ENST00000570755 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MMP25 HGNC MTOR 2475 genome.wustl.edu 37 1 11273502 11273502 + Missense_Mutation SNP C C G TCGA-EA-A556-01A-11D-A26G-09 TCGA-EA-A556-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c425e47-7f54-4c68-9be6-d58b4b980740 e6f0f4ac-02bd-44c2-9190-a1f437b2f83c 1 11273502 11273502 C G SNP MTOR ENST00000361445 human ensembl 70_37 -1 known missense c.3239 p.R1080P 0.998 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors MTOR HGNC NYNRIN 57523 genome.wustl.edu 37 14 24879175 24879175 + Silent SNP C C T TCGA-EA-A556-01A-11D-A26G-09 TCGA-EA-A556-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c425e47-7f54-4c68-9be6-d58b4b980740 e6f0f4ac-02bd-44c2-9190-a1f437b2f83c 14 24879175 24879175 C T SNP NYNRIN ENST00000382554 human ensembl 70_37 +1 known silent c.2175 p.P725 0.002 NULL pfam_RNase_Zc3h12,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core - no_errors NYNRIN HGNC OTOA 146183 genome.wustl.edu 37 16 21742211 21742211 + Missense_Mutation SNP T T C TCGA-EA-A556-01A-11D-A26G-09 TCGA-EA-A556-10A-01D-A26G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c425e47-7f54-4c68-9be6-d58b4b980740 e6f0f4ac-02bd-44c2-9190-a1f437b2f83c 16 21742211 21742211 T C SNP OTOA ENST00000286149 human ensembl 70_37 +1 known missense c.2303 p.V768A 0.015 NULL NULL - no_errors OTOA HGNC PTEN 5728 genome.wustl.edu 37 10 89685305 89685306 + Frame_Shift_Ins INS - - A TCGA-EA-A556-01A-11D-A26G-09 TCGA-EA-A556-10A-01D-A26G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c425e47-7f54-4c68-9be6-d58b4b980740 e6f0f4ac-02bd-44c2-9190-a1f437b2f83c 10 89685305 89685306 - A INS PTEN ENST00000371953 human ensembl 70_37 +1 known frame_shift_ins c.200_201 p.Y68fs 1.000:1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,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 RPS4X 6191 genome.wustl.edu 37 X 71493751 71493751 + Silent SNP G G A TCGA-EA-A556-01A-11D-A26G-09 TCGA-EA-A556-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c425e47-7f54-4c68-9be6-d58b4b980740 e6f0f4ac-02bd-44c2-9190-a1f437b2f83c X 71493751 71493751 G A SNP RPS4X ENST00000316084 human ensembl 70_37 -1 known silent c.432 p.A144 0.995 pfam_Ribosomal_S4e_central,pirsf_Ribosomal_S4e pfam_Ribosomal_S4e_central,pfam_Ribosomal_S4e_N,pfam_S4_RNA-bd,pfam_KOW,smart_S4_RNA-bd,pirsf_Ribosomal_S4e,pfscan_S4_RNA-bd - no_errors RPS4X HGNC SCRIB 23513 genome.wustl.edu 37 8 144887379 144887379 + Missense_Mutation SNP C C T TCGA-EA-A556-01A-11D-A26G-09 TCGA-EA-A556-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c425e47-7f54-4c68-9be6-d58b4b980740 e6f0f4ac-02bd-44c2-9190-a1f437b2f83c 8 144887379 144887379 C T SNP SCRIB ENST00000320476 human ensembl 70_37 -1 known missense c.2573 p.R858H 0.109 superfamily_PDZ pfam_PDZ,pfam_Leu-rich_rpt,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors SCRIB HGNC SERPINB7 8710 genome.wustl.edu 37 18 61449742 61449742 + Missense_Mutation SNP G G C TCGA-EA-A556-01A-11D-A26G-09 TCGA-EA-A556-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c425e47-7f54-4c68-9be6-d58b4b980740 e6f0f4ac-02bd-44c2-9190-a1f437b2f83c 18 61449742 61449742 G C SNP SERPINB7 ENST00000336429 human ensembl 70_37 +1 known missense c.136 p.A46P 0.436 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB7 HGNC SLC25A5 292 genome.wustl.edu 37 X 118603742 118603742 + Missense_Mutation SNP A A C TCGA-EA-A556-01A-11D-A26G-09 TCGA-EA-A556-10A-01D-A26G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c425e47-7f54-4c68-9be6-d58b4b980740 e6f0f4ac-02bd-44c2-9190-a1f437b2f83c X 118603742 118603742 A C SNP SLC25A5 ENST00000317881 human ensembl 70_37 +1 known missense c.230 p.N77T 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 SLC25A5 292 genome.wustl.edu 37 X 118603747 118603747 + Missense_Mutation SNP A A T TCGA-EA-A556-01A-11D-A26G-09 TCGA-EA-A556-10A-01D-A26G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c425e47-7f54-4c68-9be6-d58b4b980740 e6f0f4ac-02bd-44c2-9190-a1f437b2f83c 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 SMIM1 388588 genome.wustl.edu 37 1 3692044 3692044 + Missense_Mutation SNP G G A TCGA-EA-A556-01A-11D-A26G-09 TCGA-EA-A556-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c425e47-7f54-4c68-9be6-d58b4b980740 e6f0f4ac-02bd-44c2-9190-a1f437b2f83c 1 3692044 3692044 G A SNP SMIM1 ENST00000561886 human ensembl 70_37 +1 putative missense c.107 p.R36H 0.031 NULL NULL - no_errors SMIM1 HGNC SUCLG1 8802 genome.wustl.edu 37 2 84668457 84668457 + Nonsense_Mutation SNP G G A TCGA-EA-A556-01A-11D-A26G-09 TCGA-EA-A556-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c425e47-7f54-4c68-9be6-d58b4b980740 e6f0f4ac-02bd-44c2-9190-a1f437b2f83c 2 84668457 84668457 G A SNP SUCLG1 ENST00000393868 human ensembl 70_37 -1 known nonsense c.445 p.Q149* 1.000 pirsf_CoA_lig_alpha,tigrfam_CoA_lig_alpha pfam_CoA-bd,pfam_CoA_ligase,superfamily_Succinyl-CoA_synth-like,smart_CoA-bd,pirsf_CoA_lig_alpha,prints_CoA_lig_alpha,tigrfam_CoA_lig_alpha - no_errors SUCLG1 HGNC TAF9B 51616 genome.wustl.edu 37 X 77393273 77393273 + Silent SNP G G A TCGA-EA-A556-01A-11D-A26G-09 TCGA-EA-A556-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c425e47-7f54-4c68-9be6-d58b4b980740 e6f0f4ac-02bd-44c2-9190-a1f437b2f83c X 77393273 77393273 G A SNP TAF9B ENST00000341864 human ensembl 70_37 -1 known silent c.378 p.N126 1.000 pfam_TFIID-31 pfam_TFIID-31,superfamily_Histone-fold - no_errors TAF9B HGNC TFDP1 7027 genome.wustl.edu 37 13 114286076 114286076 + RNA SNP G G C TCGA-EA-A556-01A-11D-A26G-09 TCGA-EA-A556-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c425e47-7f54-4c68-9be6-d58b4b980740 e6f0f4ac-02bd-44c2-9190-a1f437b2f83c 13 114286076 114286076 G C SNP TFDP1 ENST00000465174 human ensembl 70_37 +1 known rna NULL NULL 0.454 - - - no_errors TFDP1 HGNC UACA 55075 genome.wustl.edu 37 15 70959464 70959464 + Silent SNP A A G TCGA-EA-A556-01A-11D-A26G-09 TCGA-EA-A556-10A-01D-A26G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c425e47-7f54-4c68-9be6-d58b4b980740 e6f0f4ac-02bd-44c2-9190-a1f437b2f83c 15 70959464 70959464 A G SNP UACA ENST00000322954 human ensembl 70_37 -1 known silent c.3559 p.L1187 0.061 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Prefoldin,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_T_SNARE_dom,prints_Ankyrin_rpt - no_errors UACA HGNC WDR62 284403 genome.wustl.edu 37 19 36590358 36590358 + Missense_Mutation SNP C C G TCGA-EA-A556-01A-11D-A26G-09 TCGA-EA-A556-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c425e47-7f54-4c68-9be6-d58b4b980740 e6f0f4ac-02bd-44c2-9190-a1f437b2f83c 19 36590358 36590358 C G SNP WDR62 ENST00000401500 human ensembl 70_37 +1 known missense c.2578 p.P860A 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR62 HGNC ZNF595 152687 genome.wustl.edu 37 4 85969 85970 + RNA INS - - A TCGA-EA-A556-01A-11D-A26G-09 TCGA-EA-A556-10A-01D-A26G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c425e47-7f54-4c68-9be6-d58b4b980740 e6f0f4ac-02bd-44c2-9190-a1f437b2f83c 4 85969 85970 - A INS ZNF595 ENST00000339368 human ensembl 70_37 +1 known rna NULL NULL 0.614:0.715 - - - no_errors ZNF595 HGNC