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 ADAMTS20 80070 genome.wustl.edu 37 12 43944941 43944941 + Missense_Mutation SNP G G A TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 12 43944941 43944941 G A SNP ADAMTS20 ENST00000389420 human ensembl 70_37 -1 known missense c.224 p.P75L 0.020 pfam_Peptidase_M12B_N pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS20 HGNC ARHGAP35 2909 genome.wustl.edu 37 19 47423967 47423967 + Nonsense_Mutation SNP G G T TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 19 47423967 47423967 G T SNP ARHGAP35 ENST00000404338 human ensembl 70_37 +1 known nonsense c.2035 p.E679* 1.000 NULL pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP35 HGNC ATP8B1 5205 genome.wustl.edu 37 18 55322503 55322503 + Nonsense_Mutation SNP G G A TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 18 55322503 55322503 G A SNP ATP8B1 ENST00000283684 human ensembl 70_37 -1 known nonsense c.2854 p.R952* 0.974 tigrfam_ATPase_P-typ_ion-transptr 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 ATP8B1 HGNC BCL11A 53335 genome.wustl.edu 37 2 60687401 60687404 + RNA DEL TGTT TGTT - TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 TGTT TGTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 2 60687401 60687404 TGTT - DEL BCL11A ENST00000477659 human ensembl 70_37 -1 known rna NULL NULL 0.931:0.749:0.696:0.327 - - - no_errors BCL11A HGNC BRCC3 79184 genome.wustl.edu 37 X 154319066 154319066 + Missense_Mutation SNP G G A TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c X 154319066 154319066 G A SNP BRCC3 ENST00000399042 human ensembl 70_37 +1 known missense c.500 p.R167Q 1.000 smart_JAB1_Mov34_MPN_PAD1 pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1 - no_errors BRCC3 HGNC CD151 977 genome.wustl.edu 37 11 836354 836354 + Missense_Mutation SNP T T G TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 11 836354 836354 T G SNP CD151 ENST00000322008 human ensembl 70_37 +1 known missense c.188 p.I63S 1.000 pfam_Tetraspanin/Peripherin,prints_Tetraspanin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors CD151 HGNC COL19A1 1310 genome.wustl.edu 37 6 70854859 70854859 + Missense_Mutation SNP G G T TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 6 70854859 70854859 G T SNP COL19A1 ENST00000322773 human ensembl 70_37 +1 known missense c.1730 p.G577V 1.000 pfam_Collagen pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL19A1 HGNC CREBBP 1387 genome.wustl.edu 37 16 3801726 3801726 + Splice_Site SNP C C T TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 16 3801726 3801726 C T SNP CREBBP ENST00000262367 human ensembl 70_37 -1 known splice_site c.3779+1 e20+1 1.000 - - - no_errors CREBBP HGNC CREM 1390 genome.wustl.edu 37 10 35456676 35456677 + Frame_Shift_Del DEL TA TA - TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 TA TA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 10 35456676 35456677 TA - DEL CREM ENST00000395887 human ensembl 70_37 +1 known frame_shift_del c.23_24 p.C9fs 1.000:1.000 NULL pfam_bZIP,pfam_Coactivator_CBP_pKID,smart_bZIP,pfscan_Coactivator_CBP_pKID,pfscan_bZIP,prints_Leuzip_CREB - no_errors CREM HGNC CSF2 1437 genome.wustl.edu 37 5 131409528 131409528 + Silent SNP G G A TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 5 131409528 131409528 G A SNP CSF2 ENST00000296871 human ensembl 70_37 +1 known silent c.12 p.Q4 0.997 NULL pfam_GM_colony-stim-fac,superfamily_4_helix_cytokine-like_core,smart_GM_colony-stim-fac,prints_GM_colony-stim-fac - no_errors CSF2 HGNC DHX57 90957 genome.wustl.edu 37 2 39075446 39075446 + Missense_Mutation SNP T T A TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 2 39075446 39075446 T A SNP DHX57 ENST00000295373 human ensembl 70_37 -1 known missense c.2129 p.D710V 1.000 smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_RWD-domain,pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Znf_CCCH,superfamily_UBA-like,superfamily_UBQ-conjugating_enzyme/RWD,smart_Znf_CCCH,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX57 HGNC DNAH9 1770 genome.wustl.edu 37 17 11701024 11701024 + Silent SNP C C A TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 17 11701024 11701024 C A SNP DNAH9 ENST00000262442 human ensembl 70_37 +1 known silent c.8334 p.T2778 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH9 HGNC DNAH9 1770 genome.wustl.edu 37 17 11786911 11786911 + Silent SNP C C T TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 17 11786911 11786911 C T SNP DNAH9 ENST00000262442 human ensembl 70_37 +1 known silent c.10815 p.L3605 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000210107 0 genome.wustl.edu 37 MT 4366 4366 + RNA SNP A A T TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c MT 4366 4366 A T SNP ENSG00000210107 ENST00000387372 human ensembl 70_37 -1 novel rna NULL NULL NULL - - - no_errors J01415.5 Clone_based_ensembl_gene ENSG00000225946 0 genome.wustl.edu 37 7 100608385 100608386 + RNA INS - - A TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 7 100608385 100608386 - A INS ENSG00000225946 ENST00000420080 human ensembl 70_37 -1 known rna NULL NULL 0.004:0.003 - - - no_errors RP11-395B7.2 Clone_based_vega_gene ENSG00000226232 0 genome.wustl.edu 37 16 70010517 70010519 + In_Frame_Del DEL TGT TGT - TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 TGT TGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 16 70010517 70010519 TGT - DEL ENSG00000226232 ENST00000532298 human ensembl 70_37 -1 novel in_frame_del c.761_759 p.Q253in_frame_del 0.600:0.610:0.620 pfam_NPIP pfam_NPIP - no_errors RP11-419C5.2 Clone_based_vega_gene ENSG00000253238 0 genome.wustl.edu 37 8 81178401 81178401 + RNA SNP C C T TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 8 81178401 81178401 C T SNP ENSG00000253238 ENST00000522044 human ensembl 70_37 +1 known rna NULL NULL 0.169 - - - no_errors RP11-941H19.3 Clone_based_vega_gene ENSG00000265489 0 genome.wustl.edu 37 17 12663850 12663850 + RNA DEL A A - TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 17 12663850 12663850 A - DEL ENSG00000265489 ENST00000584772 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-1090M7.1 Clone_based_vega_gene ENSG00000266021 0 genome.wustl.edu 37 9 68997433 68997433 + RNA SNP C C T TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 9 68997433 68997433 C T SNP ENSG00000266021 ENST00000583495 human ensembl 70_37 -1 novel rna NULL NULL 0.000 - - - no_errors AL353763.2 Clone_based_ensembl_gene ENSG00000269110 0 genome.wustl.edu 37 19 20844376 20844376 + RNA DEL A A - TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 19 20844376 20844376 A - DEL ENSG00000269110 ENST00000595094 human ensembl 70_37 -1 known rna NULL NULL 0.051 - - - no_errors CTC-513N18.7 Clone_based_vega_gene EXOC6B 23233 genome.wustl.edu 37 2 72786617 72786617 + Missense_Mutation SNP G G A TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 2 72786617 72786617 G A SNP EXOC6B ENST00000272427 human ensembl 70_37 -1 known missense c.880 p.P294S 1.000 pirsf_Sec15 pfam_Sec15,pirsf_Sec15 - no_errors EXOC6B HGNC GPR179 440435 genome.wustl.edu 37 17 36486721 36486721 + Missense_Mutation SNP C C T TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 17 36486721 36486721 C T SNP GPR179 ENST00000342292 human ensembl 70_37 -1 known missense c.2731 p.V911M 0.001 NULL pfam_GPCR_3_C,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C - no_errors GPR179 HGNC GSPT1 2935 genome.wustl.edu 37 16 11971344 11971344 + Missense_Mutation SNP C C T TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 16 11971344 11971344 C T SNP GSPT1 ENST00000434724 human ensembl 70_37 -1 known missense c.1522 p.E508K 1.000 pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_init/rib_B-barrel pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,pfam_Ataxin-2_C,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_EF_GTP-bd_dom - no_errors GSPT1 HGNC HEATR6 63897 genome.wustl.edu 37 17 58144895 58144895 + Missense_Mutation SNP C C G TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 17 58144895 58144895 C G SNP HEATR6 ENST00000184956 human ensembl 70_37 -1 known missense c.1138 p.D380H 0.895 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR6 HGNC HECW1 23072 genome.wustl.edu 37 7 43351605 43351605 + Missense_Mutation SNP G G A TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 7 43351605 43351605 G A SNP HECW1 ENST00000395891 human ensembl 70_37 +1 known missense c.271 p.G91R 1.000 NULL pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP - no_errors HECW1 HGNC HNF4A 3172 genome.wustl.edu 37 20 43042336 43042336 + Missense_Mutation SNP G G A TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 20 43042336 43042336 G A SNP HNF4A ENST00000316099 human ensembl 70_37 +1 known missense c.388 p.V130I 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4 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_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF,prints_Retinoid-X_rcpt/HNF4 - no_errors HNF4A HGNC HUWE1 10075 genome.wustl.edu 37 X 53564617 53564617 + Missense_Mutation SNP G G A TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c X 53564617 53564617 G A SNP HUWE1 ENST00000262854 human ensembl 70_37 -1 known missense c.12037 p.R4013W 1.000 superfamily_HECT pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC IGSF10 285313 genome.wustl.edu 37 3 151166190 151166190 + Missense_Mutation SNP G G A TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 3 151166190 151166190 G A SNP IGSF10 ENST00000282466 human ensembl 70_37 -1 known missense c.1579 p.R527W 0.985 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors IGSF10 HGNC INTS5 80789 genome.wustl.edu 37 11 62416283 62416283 + Missense_Mutation SNP C C G TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 11 62416283 62416283 C G SNP INTS5 ENST00000330574 human ensembl 70_37 -1 known missense c.1269 p.Q423H 1.000 NULL NULL - no_errors INTS5 HGNC IQSEC3 440073 genome.wustl.edu 37 12 176519 176519 + Silent SNP G G A TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 12 176519 176519 G A SNP IQSEC3 ENST00000326261 human ensembl 70_37 +1 known silent c.471 p.P157 1.000 NULL pfam_Sec7,superfamily_Sec7,smart_Sec7,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7 - no_errors IQSEC3 HGNC ITGA3 3675 genome.wustl.edu 37 17 48145499 48145499 + Missense_Mutation SNP G G A TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 17 48145499 48145499 G A SNP ITGA3 ENST00000320031 human ensembl 70_37 +1 known missense c.494 p.R165Q 1.000 NULL pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA3 HGNC KCNH4 23415 genome.wustl.edu 37 17 40316184 40316184 + Silent SNP G G A TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 17 40316184 40316184 G A SNP KCNH4 ENST00000264661 human ensembl 70_37 -1 known silent c.2088 p.G696 0.998 NULL pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_PAS_fold_3,pfam_PAS_fold,pfam_PAS_4,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH4 HGNC KCTD14 65987 genome.wustl.edu 37 11 77728119 77728119 + Silent SNP C C T TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 11 77728119 77728119 C T SNP KCTD14 ENST00000353172 human ensembl 70_37 -1 known silent c.288 p.G96 0.968 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD14 HGNC KDM6B 23135 genome.wustl.edu 37 17 7756374 7756374 + Missense_Mutation SNP G G T TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 17 7756374 7756374 G T SNP KDM6B ENST00000254846 human ensembl 70_37 +1 known missense c.4667 p.R1556L 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM6B HGNC LIG4 3981 genome.wustl.edu 37 13 108861015 108861015 + Missense_Mutation SNP C C T TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 13 108861015 108861015 C T SNP LIG4 ENST00000356922 human ensembl 70_37 -1 known missense c.2602 p.D868N 0.993 pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_DNA_ligase_IV,pfam_BRCT_dom,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold-like,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep - no_errors LIG4 HGNC LOC100287934 100287934 genome.wustl.edu 37 1 721507 721507 + RNA SNP G G A TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 1 721507 721507 G A SNP LOC100287934 ENST00000358533 human ensembl 70_37 +1 known rna NULL NULL 0.066 - - - no_errors RP11-206L10.9 Clone_based_vega_gene LOC100506303 100506303 genome.wustl.edu 37 14 19686356 19686356 + RNA SNP C C T TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 14 19686356 19686356 C T SNP LOC100506303 ENST00000418499 human ensembl 70_37 +1 known rna NULL NULL 0.034 - - - no_errors AL589743.1 Clone_based_vega_gene LRP1 4035 genome.wustl.edu 37 12 57556149 57556149 + Missense_Mutation SNP A A G TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 12 57556149 57556149 A G SNP LRP1 ENST00000243077 human ensembl 70_37 +1 known missense c.2252 p.H751R 1.000 pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP1 HGNC LRRC10 376132 genome.wustl.edu 37 12 70003979 70003979 + Missense_Mutation SNP G G C TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 12 70003979 70003979 G C SNP LRRC10 ENST00000361484 human ensembl 70_37 -1 known missense c.640 p.L214V 0.987 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC10 HGNC MAGEC1 9947 genome.wustl.edu 37 X 140996029 140996029 + Missense_Mutation SNP C C G TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c X 140996029 140996029 C G SNP MAGEC1 ENST00000285879 human ensembl 70_37 +1 known missense c.2839 p.P947A 0.003 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEC1 HGNC MALAT1 378938 genome.wustl.edu 37 11 65271780 65271780 + RNA DEL T T - TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 11 65271780 65271780 T - DEL MALAT1 ENST00000534336 human ensembl 70_37 +1 known rna NULL NULL 0.994 - - - no_errors MALAT1 HGNC MST1R 4486 genome.wustl.edu 37 3 49928930 49928930 + Missense_Mutation SNP G G C TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 3 49928930 49928930 G C SNP MST1R ENST00000296474 human ensembl 70_37 -1 known missense c.3436 p.L1146V 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_HGF/MSP_rcpt,pfscan_Prot_kinase_cat_dom pfam_Semaphorin/CD100_Ag,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_IPT_TIG_rcpt,superfamily_Semaphorin/CD100_Ag,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_HGF/MSP_rcpt,pfscan_Semaphorin/CD100_Ag,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MST1R HGNC MUC20 200958 genome.wustl.edu 37 3 195346456 195346456 + Missense_Mutation SNP C C T TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 3 195346456 195346456 C T SNP MUC20 ENST00000381954 human ensembl 70_37 +1 known missense c.758 p.S253L 0.010 NULL NULL - no_errors MUC20 HGNC NAA11 84779 genome.wustl.edu 37 4 80247017 80247017 + Silent SNP G G A TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 4 80247017 80247017 G A SNP NAA11 ENST00000286794 human ensembl 70_37 -1 known silent c.15 p.N5 0.917 superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors NAA11 HGNC NR3C2 4306 genome.wustl.edu 37 4 149035255 149035255 + Silent SNP G G A TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 4 149035255 149035255 G A SNP NR3C2 ENST00000355292 human ensembl 70_37 -1 known silent c.2811 p.D937 0.965 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core 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_Znf_hrmn_rcpt - no_errors NR3C2 HGNC NR3C2 4306 genome.wustl.edu 37 4 149357186 149357186 + Missense_Mutation SNP G G A TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 4 149357186 149357186 G A SNP NR3C2 ENST00000355292 human ensembl 70_37 -1 known missense c.827 p.P276L 0.984 NULL 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_Znf_hrmn_rcpt - no_errors NR3C2 HGNC NXPE3 91775 genome.wustl.edu 37 3 101525937 101525937 + Missense_Mutation SNP G G C TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 3 101525937 101525937 G C SNP NXPE3 ENST00000273347 human ensembl 70_37 +1 known missense c.889 p.D297H 1.000 NULL pfam_NXPH/NXPE,superfamily_Ig_E-set - no_errors NXPE3 HGNC ODF1 4956 genome.wustl.edu 37 8 103572954 103572954 + Missense_Mutation SNP G G A TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 8 103572954 103572954 G A SNP ODF1 ENST00000285402 human ensembl 70_37 +1 known missense c.595 p.E199K 1.000 pfscan_a-crystallin/Hsp20_dom pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom - no_errors ODF1 HGNC PCDHA6 56142 genome.wustl.edu 37 5 140209601 140209601 + Missense_Mutation SNP C C G TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 5 140209601 140209601 C G SNP PCDHA6 ENST00000529310 human ensembl 70_37 +1 known missense c.1925 p.S642C 0.043 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA6 HGNC PCSK7 9159 genome.wustl.edu 37 11 117094021 117094021 + Missense_Mutation SNP G G A TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 11 117094021 117094021 G A SNP PCSK7 ENST00000320934 human ensembl 70_37 -1 known missense c.1058 p.A353V 1.000 pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53 pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK7 HGNC PDE4DIP 9659 genome.wustl.edu 37 1 144879121 144879121 + Silent SNP C C T TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 1 144879121 144879121 C T SNP PDE4DIP ENST00000369356 human ensembl 70_37 -1 known silent c.4329 p.Q1443 0.996 NULL pfam_Spindle_assoc,superfamily_ARM-type_fold - no_errors PDE4DIP HGNC PHLPP2 23035 genome.wustl.edu 37 16 71715677 71715677 + Frame_Shift_Del DEL G G - TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 16 71715677 71715677 G - DEL PHLPP2 ENST00000356272 human ensembl 70_37 -1 known frame_shift_del c.867 p.G290fs 0.997 NULL pfam_PP2C-like,pfam_Leu-rich_rpt,superfamily_PP2C-like,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like - no_errors PHLPP2 HGNC PLXNB2 23654 genome.wustl.edu 37 22 50724315 50724315 + Nonsense_Mutation SNP G G A TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 22 50724315 50724315 G A SNP PLXNB2 ENST00000359337 human ensembl 70_37 -1 known nonsense c.2002 p.Q668* 1.000 NULL pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNB2 HGNC PPP1R37 284352 genome.wustl.edu 37 19 45646855 45646855 + Silent SNP C C G TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 19 45646855 45646855 C G SNP PPP1R37 ENST00000221462 human ensembl 70_37 +1 known silent c.951 p.L317 1.000 smart_Leu-rich_rpt_RNase_inh_sub-typ smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors PPP1R37 HGNC PRPF19 27339 genome.wustl.edu 37 11 60666347 60666347 + Missense_Mutation SNP C C G TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 11 60666347 60666347 C G SNP PRPF19 ENST00000227524 human ensembl 70_37 -1 known missense c.1041 p.E347D 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_Ricin_B_lectin,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Pre-mRNA_splic_Prp19,pfam_Ubox_domain,superfamily_WD40_repeat_dom,smart_Ubox_domain,smart_WD40_repeat,pfscan_Ricin_B_lectin,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PRPF19 HGNC PTGER3 5733 genome.wustl.edu 37 1 71512631 71512631 + Missense_Mutation SNP G G C TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 1 71512631 71512631 G C SNP PTGER3 ENST00000354608 human ensembl 70_37 -1 known missense c.630 p.I210M 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Thbox_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srbc,pfscan_GPCR_Rhodpsn_7TM,prints_Prostglndn_EP3_rcpt,prints_Prostanoid_rcpt,prints_EP3_rcpt_2,prints_Prostglndn_DP_rcpt,prints_GPCR_Rhodpsn,prints_Thbox_rcpt - no_errors PTGER3 HGNC PTK2B 2185 genome.wustl.edu 37 8 27296867 27296868 + Frame_Shift_Ins INS - - C TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 8 27296867 27296868 - C INS PTK2B ENST00000346049 human ensembl 70_37 +1 known frame_shift_ins c.1786_1787 p.I597fs 1.000:1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Focal_adhesion_kin_target_dom,pfam_Prot_kinase_cat_dom,pfam_FERM_central,superfamily_Kinase-like_dom,superfamily_Focal_adhesion_kin_target_dom,superfamily_FERM_central,smart_Band_41_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PTK2B HGNC PXDN 7837 genome.wustl.edu 37 2 1667376 1667376 + Splice_Site SNP C C T TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 2 1667376 1667376 C T SNP PXDN ENST00000252804 human ensembl 70_37 -1 known splice_site c.1567+1 e12+1 1.000 - - - no_errors PXDN HGNC RASSF4 83937 genome.wustl.edu 37 10 45479462 45479462 + Missense_Mutation SNP G G A TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 10 45479462 45479462 G A SNP RASSF4 ENST00000334940 human ensembl 70_37 +1 known missense c.301 p.V101I 0.352 NULL pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH - no_errors RASSF4 HGNC RGPD4 285190 genome.wustl.edu 37 2 108487458 108487458 + Nonsense_Mutation SNP G G T TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 2 108487458 108487458 G T SNP RGPD4 ENST00000354986 human ensembl 70_37 +1 known nonsense c.2998 p.G1000* 1.000 NULL pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD4 HGNC RLF 6018 genome.wustl.edu 37 1 40705038 40705038 + Missense_Mutation SNP G G C TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 1 40705038 40705038 G C SNP RLF ENST00000372771 human ensembl 70_37 +1 known missense c.4664 p.G1555A 1.000 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RLF HGNC SDHD 6392 genome.wustl.edu 37 11 111965693 111965693 + Nonstop_Mutation SNP G G C TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 11 111965693 111965693 G C SNP SDHD ENST00000375549 human ensembl 70_37 +1 known nonstop c.479 p.*160S 1.000 NULL pfam_Cyt_b_succ_DH_CybS - no_errors SDHD HGNC SEC16A 9919 genome.wustl.edu 37 9 139348716 139348716 + Missense_Mutation SNP G G A TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 9 139348716 139348716 G A SNP SEC16A ENST00000313050 human ensembl 70_37 -1 known missense c.5921 p.P1974L 0.004 NULL NULL - no_errors SEC16A HGNC SEPT5 5413 genome.wustl.edu 37 22 19709996 19709996 + Missense_Mutation SNP C C G TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 22 19709996 19709996 C G SNP SEPT5 ENST00000383045 human ensembl 70_37 +1 known missense c.1126 p.Q376E 1.000 pirsf_Septin pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,pirsf_Septin - no_errors SEPT5 HGNC SESN3 143686 genome.wustl.edu 37 11 94926637 94926637 + Missense_Mutation SNP A A C TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 11 94926637 94926637 A C SNP SESN3 ENST00000536441 human ensembl 70_37 -1 known missense c.128 p.F43C 1.000 pfam_PA26 pfam_PA26 - no_errors SESN3 HGNC SFMBT1 51460 genome.wustl.edu 37 3 52962220 52962220 + Silent SNP G G A TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 3 52962220 52962220 G A SNP SFMBT1 ENST00000358080 human ensembl 70_37 -1 known silent c.1035 p.I345 1.000 pfam_Mbt,smart_Mbt,pfscan_Mbt pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt - no_errors SFMBT1 HGNC SLC22A9 114571 genome.wustl.edu 37 11 63149671 63149671 + Frame_Shift_Del DEL A A - TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 11 63149671 63149671 A - DEL SLC22A9 ENST00000279178 human ensembl 70_37 +1 known frame_shift_del c.995 p.K335fs 0.005 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A9 HGNC SLC5A4 6527 genome.wustl.edu 37 22 32633298 32633298 + Silent SNP C C T TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 22 32633298 32633298 C T SNP SLC5A4 ENST00000266086 human ensembl 70_37 -1 known silent c.597 p.S199 0.065 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A4 HGNC SPTA1 6708 genome.wustl.edu 37 1 158627401 158627401 + Nonsense_Mutation SNP G G A TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 1 158627401 158627401 G A SNP SPTA1 ENST00000368148 human ensembl 70_37 -1 known nonsense c.2671 p.R891* 0.996 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC TAF8 129685 genome.wustl.edu 37 6 42036293 42036293 + Missense_Mutation SNP C C T TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 6 42036293 42036293 C T SNP TAF8 ENST00000372982 human ensembl 70_37 +1 known missense c.728 p.S243L 1.000 NULL pfam_BTP,pfam_TFIID_su8_C,superfamily_Histone-fold,smart_BTP - no_errors TAF8 HGNC TEFM 79736 genome.wustl.edu 37 17 29227455 29227455 + Nonsense_Mutation SNP G G T TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 17 29227455 29227455 G T SNP TEFM ENST00000581216 human ensembl 70_37 -1 known nonsense c.621 p.Y207* 0.897 superfamily_RNaseH-like_dom superfamily_RNaseH-like_dom - no_errors TEFM HGNC TMC2 117532 genome.wustl.edu 37 20 2621941 2621941 + Missense_Mutation SNP C C G TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 20 2621941 2621941 C G SNP TMC2 ENST00000358864 human ensembl 70_37 +1 known missense c.2665 p.Q889E 0.293 NULL pfam_TMC - no_errors TMC2 HGNC TRIM71 131405 genome.wustl.edu 37 3 32915396 32915396 + Silent SNP C C T TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 3 32915396 32915396 C T SNP TRIM71 ENST00000383763 human ensembl 70_37 +1 known silent c.939 p.Y313 1.000 smart_Znf_B-box,pfscan_Znf_B-box pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM71 HGNC TSPEAR 54084 genome.wustl.edu 37 21 45924730 45924730 + Missense_Mutation SNP C C A TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 21 45924730 45924730 C A SNP TSPEAR ENST00000323084 human ensembl 70_37 -1 known missense c.1789 p.D597Y 1.000 pfam_EPTP,pfscan_EAR pfam_EPTP,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_EAR - no_errors TSPEAR HGNC UNC13B 10497 genome.wustl.edu 37 9 35313966 35313966 + Missense_Mutation SNP G G C TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 9 35313966 35313966 G C SNP UNC13B ENST00000396787 human ensembl 70_37 +1 known missense c.1183 p.V395L 1.000 NULL pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_Ca-dep,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13B HGNC WARS2 10352 genome.wustl.edu 37 1 119683254 119683254 + Missense_Mutation SNP G G A TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 1 119683254 119683254 G A SNP WARS2 ENST00000235521 human ensembl 70_37 -1 known missense c.14 p.S5L 0.335 NULL pfam_aa-tRNA-synth_Ic,prints_Trp-tRNA-ligase,tigrfam_Trp-tRNA-ligase - no_errors WARS2 HGNC WDR47 22911 genome.wustl.edu 37 1 109514103 109514103 + Silent SNP G G A TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 1 109514103 109514103 G A SNP WDR47 ENST00000400794 human ensembl 70_37 -1 known silent c.2733 p.F911 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_CTLH_C,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_CTLH_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR47 HGNC WDR81 124997 genome.wustl.edu 37 17 1629541 1629541 + Missense_Mutation SNP G G C TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 17 1629541 1629541 G C SNP WDR81 ENST00000409644 human ensembl 70_37 +1 known missense c.1288 p.G430R 0.597 pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Kinase-like_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR81 HGNC ZCWPW1 55063 genome.wustl.edu 37 7 100004362 100004362 + Missense_Mutation SNP G G T TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 7 100004362 100004362 G T SNP ZCWPW1 ENST00000398027 human ensembl 70_37 -1 known missense c.1125 p.N375K 1.000 pfam_PWWP,smart_PWWP,pfscan_PWWP pfam_Znf_CW,pfam_PWWP,smart_PWWP,pfscan_PWWP,pfscan_Znf_CW - no_errors ZCWPW1 HGNC ZNF160 90338 genome.wustl.edu 37 19 53571415 53571415 + Missense_Mutation SNP C C T TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 19 53571415 53571415 C T SNP ZNF160 ENST00000418871 human ensembl 70_37 -1 known missense c.2372 p.C791Y 0.909 pfam_Znf_C2H2,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 ZNF160 HGNC ZNF160 90338 genome.wustl.edu 37 19 53573149 53573149 + Missense_Mutation SNP T T C TCGA-FU-A3TX-01A-11D-A22X-09 TCGA-FU-A3TX-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7b951ed-7d8e-4c35-b458-d119cc5e3fd7 c7b0f4c0-04d4-4fce-b0ac-bb10ef01605c 19 53573149 53573149 T C SNP ZNF160 ENST00000418871 human ensembl 70_37 -1 known missense c.638 p.N213S 0.001 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 ZNF160 HGNC