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 ADAM9 8754 genome.wustl.edu 37 8 38948831 38948831 + Missense_Mutation SNP G G T TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0b813af-27fe-4fe6-843b-18f877023df1 ef78763c-3449-4525-867e-197c045f98a6 8 38948831 38948831 G T SNP ADAM9 ENST00000487273 human ensembl 70_37 +1 known missense c.2264 p.R755L 0.000 NULL pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM9 HGNC ARCN1 372 genome.wustl.edu 37 11 118461072 118461072 + Missense_Mutation SNP G G A TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0b813af-27fe-4fe6-843b-18f877023df1 ef78763c-3449-4525-867e-197c045f98a6 11 118461072 118461072 G A SNP ARCN1 ENST00000264028 human ensembl 70_37 +1 known missense c.835 p.E279K 1.000 pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pfscan_Clathrin_mu_C pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pfscan_Clathrin_mu_C - no_errors ARCN1 HGNC ATP8B2 57198 genome.wustl.edu 37 1 154320997 154320997 + Missense_Mutation SNP C C A TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0b813af-27fe-4fe6-843b-18f877023df1 ef78763c-3449-4525-867e-197c045f98a6 1 154320997 154320997 C A SNP ATP8B2 ENST00000368489 human ensembl 70_37 +1 known missense c.3376 p.P1126T 1.000 tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP8B2 HGNC CCDC13 152206 genome.wustl.edu 37 3 42794151 42794151 + Missense_Mutation SNP C C G TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0b813af-27fe-4fe6-843b-18f877023df1 ef78763c-3449-4525-867e-197c045f98a6 3 42794151 42794151 C G SNP CCDC13 ENST00000310232 human ensembl 70_37 -1 known missense c.429 p.K143N 1.000 NULL superfamily_Prefoldin - no_errors CCDC13 HGNC CHST8 64377 genome.wustl.edu 37 19 34263497 34263497 + Silent SNP C C T TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0b813af-27fe-4fe6-843b-18f877023df1 ef78763c-3449-4525-867e-197c045f98a6 19 34263497 34263497 C T SNP CHST8 ENST00000262622 human ensembl 70_37 +1 known silent c.804 p.F268 1.000 pfam_Sulfotransferase pfam_Sulfotransferase - no_errors CHST8 HGNC CROCCP2 84809 genome.wustl.edu 37 1 16956946 16956946 + RNA SNP C C G TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0b813af-27fe-4fe6-843b-18f877023df1 ef78763c-3449-4525-867e-197c045f98a6 1 16956946 16956946 C G SNP CROCCP2 ENST00000362058 human ensembl 70_37 -1 known rna NULL NULL 0.035 - - - no_errors CROCCP2 HGNC DACH2 117154 genome.wustl.edu 37 X 85769284 85769284 + Nonsense_Mutation SNP C C G TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0b813af-27fe-4fe6-843b-18f877023df1 ef78763c-3449-4525-867e-197c045f98a6 X 85769284 85769284 C G SNP DACH2 ENST00000373125 human ensembl 70_37 +1 known nonsense c.530 p.S177* 1.000 NULL pfam_Transform_Ski,superfamily_DNA-bd_dom_put - no_errors DACH2 HGNC DAGLA 747 genome.wustl.edu 37 11 61507102 61507102 + Missense_Mutation SNP G G A TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0b813af-27fe-4fe6-843b-18f877023df1 ef78763c-3449-4525-867e-197c045f98a6 11 61507102 61507102 G A SNP DAGLA ENST00000257215 human ensembl 70_37 +1 known missense c.1822 p.V608M 1.000 NULL pfam_Lipase_3 - no_errors DAGLA HGNC ENSG00000221307 0 genome.wustl.edu 37 12 8476956 8476956 + RNA SNP G G A TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0b813af-27fe-4fe6-843b-18f877023df1 ef78763c-3449-4525-867e-197c045f98a6 12 8476956 8476956 G A SNP ENSG00000221307 ENST00000408380 human ensembl 70_37 +1 novel rna NULL NULL 0.279 - - - no_errors AC092745.1 Clone_based_ensembl_gene ERV3-1 2086 genome.wustl.edu 37 7 64452777 64452777 + Missense_Mutation SNP G G C TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0b813af-27fe-4fe6-843b-18f877023df1 ef78763c-3449-4525-867e-197c045f98a6 7 64452777 64452777 G C SNP ERV3-1 ENST00000394323 human ensembl 70_37 -1 known missense c.628 p.P210A 0.695 NULL NULL - no_errors ERV3-1 HGNC SMIM11 54065 genome.wustl.edu 37 21 35774492 35774492 + RNA DEL T T - TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0b813af-27fe-4fe6-843b-18f877023df1 ef78763c-3449-4525-867e-197c045f98a6 21 35774492 35774492 T - DEL FAM165B ENST00000481710 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors FAM165B HGNC FAT1 2195 genome.wustl.edu 37 4 187540391 187540391 + Nonsense_Mutation SNP G G C TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0b813af-27fe-4fe6-843b-18f877023df1 ef78763c-3449-4525-867e-197c045f98a6 4 187540391 187540391 G C SNP FAT1 ENST00000441802 human ensembl 70_37 -1 known nonsense c.7349 p.S2450* 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT1 HGNC FKBP4 2288 genome.wustl.edu 37 12 2910358 2910358 + Missense_Mutation SNP G G A TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0b813af-27fe-4fe6-843b-18f877023df1 ef78763c-3449-4525-867e-197c045f98a6 12 2910358 2910358 G A SNP FKBP4 ENST00000001008 human ensembl 70_37 +1 known missense c.1108 p.E370K 1.000 pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_PPIase_FKBP_dom,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP4 HGNC FREM1 158326 genome.wustl.edu 37 9 14805125 14805125 + Missense_Mutation SNP G G T TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0b813af-27fe-4fe6-843b-18f877023df1 ef78763c-3449-4525-867e-197c045f98a6 9 14805125 14805125 G T SNP FREM1 ENST00000380881 human ensembl 70_37 -1 known missense c.3303 p.N1101K 0.976 NULL pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin - no_errors FREM1 HGNC HERC2P2 400322 genome.wustl.edu 37 15 23283144 23283144 + RNA SNP A A G TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0b813af-27fe-4fe6-843b-18f877023df1 ef78763c-3449-4525-867e-197c045f98a6 15 23283144 23283144 A G SNP HERC2P2 ENST00000560464 human ensembl 70_37 -1 known rna NULL NULL 0.299 - - - no_errors HERC2P2 HGNC HMGXB3 22993 genome.wustl.edu 37 5 149429857 149429857 + Missense_Mutation SNP C C T TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0b813af-27fe-4fe6-843b-18f877023df1 ef78763c-3449-4525-867e-197c045f98a6 5 149429857 149429857 C T SNP HMGXB3 ENST00000502717 human ensembl 70_37 +1 known missense c.3244 p.R1082C 1.000 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors HMGXB3 HGNC IP6K2 51447 genome.wustl.edu 37 3 48725981 48725981 + Missense_Mutation SNP C C T TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0b813af-27fe-4fe6-843b-18f877023df1 ef78763c-3449-4525-867e-197c045f98a6 3 48725981 48725981 C T SNP IP6K2 ENST00000328631 human ensembl 70_37 -1 known missense c.1006 p.D336N 1.000 pfam_IPK pfam_IPK - no_errors IP6K2 HGNC KDM1A 23028 genome.wustl.edu 37 1 23381588 23381588 + Missense_Mutation SNP C C A TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0b813af-27fe-4fe6-843b-18f877023df1 ef78763c-3449-4525-867e-197c045f98a6 1 23381588 23381588 C A SNP KDM1A ENST00000542151 human ensembl 70_37 +1 known missense c.817 p.H273N 1.000 pfam_SWIRM,superfamily_Homeodomain-like,pirsf_Hist_Lys-spec_deMease,pfscan_SWIRM pfam_Amino_oxidase,pfam_SWIRM,pfam_FAD-dep_OxRdtase,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,superfamily_Homeodomain-like,pirsf_Hist_Lys-spec_deMease,pfscan_SWIRM - no_errors KDM1A HGNC LRRC43 254050 genome.wustl.edu 37 12 122687969 122687969 + Missense_Mutation SNP C C G TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0b813af-27fe-4fe6-843b-18f877023df1 ef78763c-3449-4525-867e-197c045f98a6 12 122687969 122687969 C G SNP LRRC43 ENST00000339777 human ensembl 70_37 +1 known missense c.1951 p.L651V 0.002 NULL NULL - no_errors LRRC43 HGNC MAPK1 5594 genome.wustl.edu 37 22 22127164 22127164 + Missense_Mutation SNP C C T TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0b813af-27fe-4fe6-843b-18f877023df1 ef78763c-3449-4525-867e-197c045f98a6 22 22127164 22127164 C T SNP MAPK1 ENST00000215832 human ensembl 70_37 -1 known missense c.964 p.E322K 1.000 superfamily_Kinase-like_dom,prints_MAPK_ERK1/2 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_MAPK_ERK1/2,prints_MAPK_ERK3/4 - no_errors MAPK1 HGNC MLLT10 8028 genome.wustl.edu 37 10 21959589 21959589 + Missense_Mutation SNP G G C TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0b813af-27fe-4fe6-843b-18f877023df1 ef78763c-3449-4525-867e-197c045f98a6 10 21959589 21959589 G C SNP MLLT10 ENST00000307729 human ensembl 70_37 +1 known missense c.1007 p.R336T 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors MLLT10 HGNC MT-ND4L 4539 genome.wustl.edu 37 MT 10663 10663 + Missense_Mutation SNP T T C TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0b813af-27fe-4fe6-843b-18f877023df1 ef78763c-3449-4525-867e-197c045f98a6 MT 10663 10663 T C SNP MT-ND4L ENST00000361335 human ensembl 70_37 +1 known missense c.194 p.V65A NULL pfam_NADH_UbQ_OxRdtase_chain4L/K pfam_NADH_UbQ_OxRdtase_chain4L/K - no_errors MT-ND4L HGNC NOD2 64127 genome.wustl.edu 37 16 50744657 50744657 + Missense_Mutation SNP G G C TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0b813af-27fe-4fe6-843b-18f877023df1 ef78763c-3449-4525-867e-197c045f98a6 16 50744657 50744657 G C SNP NOD2 ENST00000300589 human ensembl 70_37 +1 known missense c.835 p.E279Q 0.997 NULL pfam_CARD,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD - no_errors NOD2 HGNC NR2F2 7026 genome.wustl.edu 37 15 96877515 96877515 + Missense_Mutation SNP G G A TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0b813af-27fe-4fe6-843b-18f877023df1 ef78763c-3449-4525-867e-197c045f98a6 15 96877515 96877515 G A SNP NR2F2 ENST00000394166 human ensembl 70_37 +1 known missense c.653 p.R218K 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_COUP_TF,prints_Str_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_COUP_TF,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4 - no_errors NR2F2 HGNC PACRGL 133015 genome.wustl.edu 37 4 20715122 20715122 + Missense_Mutation SNP G G C TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0b813af-27fe-4fe6-843b-18f877023df1 ef78763c-3449-4525-867e-197c045f98a6 4 20715122 20715122 G C SNP PACRGL ENST00000503585 human ensembl 70_37 +1 known missense c.569 p.G190A 0.998 pfam_Parkin_co-regulated_protein,superfamily_ARM-type_fold pfam_Parkin_co-regulated_protein,superfamily_ARM-type_fold - no_errors PACRGL HGNC PACS2 23241 genome.wustl.edu 37 14 105848350 105848350 + Silent SNP C C T TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0b813af-27fe-4fe6-843b-18f877023df1 ef78763c-3449-4525-867e-197c045f98a6 14 105848350 105848350 C T SNP PACS2 ENST00000458164 human ensembl 70_37 +1 known silent c.1368 p.N456 0.922 NULL pfam_Phosphofurin_acidic_CS-1 - no_errors PACS2 HGNC PRR23C 389152 genome.wustl.edu 37 3 138763254 138763254 + Missense_Mutation SNP C C T TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0b813af-27fe-4fe6-843b-18f877023df1 ef78763c-3449-4525-867e-197c045f98a6 3 138763254 138763254 C T SNP PRR23C ENST00000413199 human ensembl 70_37 -1 known missense c.209 p.R70H 0.017 pfam_UPF0572 pfam_UPF0572 - no_errors PRR23C HGNC RASGRP4 115727 genome.wustl.edu 37 19 38905607 38905607 + Missense_Mutation SNP C C T TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0b813af-27fe-4fe6-843b-18f877023df1 ef78763c-3449-4525-867e-197c045f98a6 19 38905607 38905607 C T SNP RASGRP4 ENST00000587738 human ensembl 70_37 -1 known missense c.1111 p.D371N 0.983 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_DAG/PE-bd - no_errors RASGRP4 HGNC RYR2 6262 genome.wustl.edu 37 1 237532889 237532889 + Missense_Mutation SNP G G A TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0b813af-27fe-4fe6-843b-18f877023df1 ef78763c-3449-4525-867e-197c045f98a6 1 237532889 237532889 G A SNP RYR2 ENST00000360064 human ensembl 70_37 +1 known missense c.359 p.R120H 1.000 pfam_Ins145_P3_rcpt,superfamily_MIR_motif,smart_MIR_motif,prints_Ryan_recept,pfscan_MIR_motif pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR2 HGNC RYR2 6262 genome.wustl.edu 37 1 237758810 237758810 + Missense_Mutation SNP C C A TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0b813af-27fe-4fe6-843b-18f877023df1 ef78763c-3449-4525-867e-197c045f98a6 1 237758810 237758810 C A SNP RYR2 ENST00000360064 human ensembl 70_37 +1 known missense c.4443 p.S1481R 1.000 pfam_SPRY_rcpt,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR2 HGNC SASH1 23328 genome.wustl.edu 37 6 148664255 148664255 + Missense_Mutation SNP G G C TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0b813af-27fe-4fe6-843b-18f877023df1 ef78763c-3449-4525-867e-197c045f98a6 6 148664255 148664255 G C SNP SASH1 ENST00000367467 human ensembl 70_37 +1 known missense c.52 p.E18Q 0.001 NULL pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM - no_errors SASH1 HGNC SLC6A11 6538 genome.wustl.edu 37 3 10858057 10858057 + Missense_Mutation SNP C C T TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0b813af-27fe-4fe6-843b-18f877023df1 ef78763c-3449-4525-867e-197c045f98a6 3 10858057 10858057 C T SNP SLC6A11 ENST00000254488 human ensembl 70_37 +1 known missense c.107 p.A36V 0.663 NULL pfam_Na/ntran_symport,superfamily_S-AdoMet_deCO2ase_core,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT3 - no_errors SLC6A11 HGNC SMEK1 55671 genome.wustl.edu 37 14 91943285 91943285 + Missense_Mutation SNP C C T TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0b813af-27fe-4fe6-843b-18f877023df1 ef78763c-3449-4525-867e-197c045f98a6 14 91943285 91943285 C T SNP SMEK1 ENST00000554943 human ensembl 70_37 -1 known missense c.961 p.E321K 1.000 pfam_DUF625,superfamily_ARM-type_fold pfam_DUF625,superfamily_ARM-type_fold - no_errors SMEK1 HGNC SNORD113-4 767564 genome.wustl.edu 37 14 101402840 101402840 + RNA SNP G G A TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0b813af-27fe-4fe6-843b-18f877023df1 ef78763c-3449-4525-867e-197c045f98a6 14 101402840 101402840 G A SNP SNORD113-4 ENST00000364802 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors SNORD113-4 HGNC TCFL5 10732 genome.wustl.edu 37 20 61473404 61473404 + Silent SNP G G A TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0b813af-27fe-4fe6-843b-18f877023df1 ef78763c-3449-4525-867e-197c045f98a6 20 61473404 61473404 G A SNP TCFL5 ENST00000335351 human ensembl 70_37 -1 known silent c.1426 p.L476 0.955 NULL pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors TCFL5 HGNC TFE3 7030 genome.wustl.edu 37 X 48889098 48889098 + RNA SNP A A T TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0b813af-27fe-4fe6-843b-18f877023df1 ef78763c-3449-4525-867e-197c045f98a6 X 48889098 48889098 A T SNP TFE3 ENST00000495940 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors TFE3 HGNC TNXB 7148 genome.wustl.edu 37 6 32029988 32029988 + Missense_Mutation SNP A A C TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0b813af-27fe-4fe6-843b-18f877023df1 ef78763c-3449-4525-867e-197c045f98a6 6 32029988 32029988 A C SNP TNXB ENST00000375247 human ensembl 70_37 -1 known missense c.7114 p.Y2372D 0.995 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC TTN 7273 genome.wustl.edu 37 2 179579022 179579022 + Missense_Mutation SNP G G A TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0b813af-27fe-4fe6-843b-18f877023df1 ef78763c-3449-4525-867e-197c045f98a6 2 179579022 179579022 G A SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.22747 p.L7583F 0.956 superfamily_RNaseH-like_dom,smart_Ig_sub 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 UQCRFS1 7386 genome.wustl.edu 37 19 29699033 29699033 + Missense_Mutation SNP T T C TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0b813af-27fe-4fe6-843b-18f877023df1 ef78763c-3449-4525-867e-197c045f98a6 19 29699033 29699033 T C SNP UQCRFS1 ENST00000304863 human ensembl 70_37 -1 known missense c.247 p.I83V 0.746 pfam_Ubiquinol_cyt_Rdtase_TM,superfamily_Ubiquinol_cyt_Rdtase_TM pfam_Ubiqinol_cyt_c_Rdtase_N,pfam_Ubiquinol_cyt_Rdtase_TM,pfam_Rieske_2Fe-2S,superfamily_Rieske_2Fe-2S,superfamily_Ubiquinol_cyt_Rdtase_TM,superfamily_Globular_prot_asu/bsu,prints_Rieske_Fe-S_prot_C,tigrfam_Ubiquinol_cyt_c_Rdtase_Fe-S-su - no_errors UQCRFS1 HGNC VCP 7415 genome.wustl.edu 37 9 35064274 35064274 + Missense_Mutation SNP T T A TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0b813af-27fe-4fe6-843b-18f877023df1 ef78763c-3449-4525-867e-197c045f98a6 9 35064274 35064274 T A SNP VCP ENST00000358901 human ensembl 70_37 -1 known missense c.585 p.E195D 1.000 tigrfam_ATPase_AAA_CDC48 pfam_ATPase_AAA_core,pfam_CDC4_N-term_subdom,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_Cdc48_dom2,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_Vps4_C,superfamily_Asp_de-COase-like_fold,smart_AAA+_ATPase,tigrfam_ATPase_AAA_CDC48 - no_errors VCP HGNC ZBTB17 7709 genome.wustl.edu 37 1 16268666 16268666 + Missense_Mutation SNP C C T TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0b813af-27fe-4fe6-843b-18f877023df1 ef78763c-3449-4525-867e-197c045f98a6 1 16268666 16268666 C T SNP ZBTB17 ENST00000375733 human ensembl 70_37 -1 known missense c.2231 p.R744Q 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB17 HGNC ZDHHC8P1 150244 genome.wustl.edu 37 22 23733547 23733547 + RNA DEL T T - TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0b813af-27fe-4fe6-843b-18f877023df1 ef78763c-3449-4525-867e-197c045f98a6 22 23733547 23733547 T - DEL ZDHHC8P1 ENST00000255890 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors ZDHHC8P1 HGNC ZEB1 6935 genome.wustl.edu 37 10 31799694 31799694 + Missense_Mutation SNP G G A TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0b813af-27fe-4fe6-843b-18f877023df1 ef78763c-3449-4525-867e-197c045f98a6 10 31799694 31799694 G A SNP ZEB1 ENST00000361642 human ensembl 70_37 +1 known missense c.578 p.R193H 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2 - no_errors ZEB1 HGNC ZNF292 23036 genome.wustl.edu 37 6 87965710 87965710 + Missense_Mutation SNP G G A TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0b813af-27fe-4fe6-843b-18f877023df1 ef78763c-3449-4525-867e-197c045f98a6 6 87965710 87965710 G A SNP ZNF292 ENST00000369577 human ensembl 70_37 +1 known missense c.2363 p.R788K 1.000 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF292 HGNC ZNF302 55900 genome.wustl.edu 37 19 35176129 35176129 + Missense_Mutation SNP C C G TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0b813af-27fe-4fe6-843b-18f877023df1 ef78763c-3449-4525-867e-197c045f98a6 19 35176129 35176129 C G SNP ZNF302 ENST00000423823 human ensembl 70_37 +1 known missense c.1187 p.P396R 0.074 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF302 HGNC ZNF473 25888 genome.wustl.edu 37 19 50550227 50550227 + Nonsense_Mutation SNP C C T TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0b813af-27fe-4fe6-843b-18f877023df1 ef78763c-3449-4525-867e-197c045f98a6 19 50550227 50550227 C T SNP ZNF473 ENST00000270617 human ensembl 70_37 +1 known nonsense c.2527 p.Q843* 0.002 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF473 HGNC ZNF543 125919 genome.wustl.edu 37 19 57839193 57839193 + Silent SNP C C G TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0b813af-27fe-4fe6-843b-18f877023df1 ef78763c-3449-4525-867e-197c045f98a6 19 57839193 57839193 C G SNP ZNF543 ENST00000321545 human ensembl 70_37 +1 known silent c.363 p.S121 0.000 NULL 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 ZNF543 HGNC