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 ensembl_gene_id tier dbSNP GMAF n_ref_count n_alt_count normal_vaf t_ref_count t_alt_count tumor_vaf n_ref_count_val n_alt_count_val normal_vaf_val t_ref_count_val t_alt_count_val tumor_vaf_val ROCK1P1 0 genome.wustl.edu 37 18 117295 117295 + R SNP C C A TCGA-UE-A6QU-01A-12D-A32I-09 TCGA-UE-A6QU-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 8955375b-e2e4-42f6-a96f-0e14ffb8fd4b a37b1846-7265-4f3a-bc22-c1dd8350e95a 18 117295 117295 C A SNP ROCK1P1 ENST00000576266 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors ROCK1P1 HGNC ENSG00000263006 tier1 - - 59 0 0.00 57 19 25.00 SMAD5-AS1 0 genome.wustl.edu 37 5 135469745 135469746 + R DEL TT TT - TCGA-UE-A6QU-01A-12D-A32I-09 TCGA-UE-A6QU-10B-01D-A32I-09 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 8955375b-e2e4-42f6-a96f-0e14ffb8fd4b a37b1846-7265-4f3a-bc22-c1dd8350e95a 5 135469745 135469746 TT - DEL SMAD5-AS1 ENST00000297163 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.001 - - - no_errors SMAD5-AS1 HGNC ENSG00000164621 tier1 58 0 0.00 32 3 8.57 ASTN2 0 genome.wustl.edu 37 9 119770532 119770532 + Missense_Mutation SNP C C A TCGA-UE-A6QU-01A-12D-A32I-09 TCGA-UE-A6QU-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 8955375b-e2e4-42f6-a96f-0e14ffb8fd4b a37b1846-7265-4f3a-bc22-c1dd8350e95a 9 119770532 119770532 C A SNP ASTN2 ENST00000313400 human ensembl 74_37 -1 known missense c.1430 p.S477I 1.000 NULL pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF - no_errors ASTN2 HGNC ENSG00000148219 tier1 - - 74 0 0.00 50 9 15.00 YBX2 0 genome.wustl.edu 37 17 7193637 7193637 + Frame_Shift_Del DEL G G - TCGA-UE-A6QU-01A-12D-A32I-09 TCGA-UE-A6QU-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 8955375b-e2e4-42f6-a96f-0e14ffb8fd4b a37b1846-7265-4f3a-bc22-c1dd8350e95a 17 7193637 7193637 G - DEL YBX2 ENST00000007699 human ensembl 74_37 -1 known frame_shift_del c.677 p.P226fs 0.892 NULL pfam_CSP_D-bd,superfamily_-bd_OB-fold,smart_Cold_shock_prot,prints_CSP_D-bd - no_errors YBX2 HGNC ENSG00000006047 tier1 148 0 0.00 144 21 12.73 GP1BA 0 genome.wustl.edu 37 17 4837184 4837184 + Frame_Shift_Del DEL G G - TCGA-UE-A6QU-01A-12D-A32I-09 TCGA-UE-A6QU-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 8955375b-e2e4-42f6-a96f-0e14ffb8fd4b a37b1846-7265-4f3a-bc22-c1dd8350e95a 17 4837184 4837184 G - DEL GP1BA ENST00000329125 human ensembl 74_37 +1 known frame_shift_del c.1285 p.E429fs 0.000 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors GP1BA HGNC ENSG00000185245 tier1 14 0 0.00 9 3 25.00 ANP32E 0 genome.wustl.edu 37 1 150199040 150199045 + In_Frame_Del DEL TCCTCT TCCTCT - TCGA-UE-A6QU-01A-12D-A32I-09 TCGA-UE-A6QU-10B-01D-A32I-09 TCCTCT TCCTCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 8955375b-e2e4-42f6-a96f-0e14ffb8fd4b a37b1846-7265-4f3a-bc22-c1dd8350e95a 1 150199040 150199045 TCCTCT - DEL ANP32E ENST00000314136 human ensembl 74_37 -1 known in_frame_del c.581_576 p.EE193in_frame_del 0.001:0.006:0.000:0.058:0.106:0.091 NULL pfam_Leu-rich_rpt - no_errors ANP32E HGNC ENSG00000143401 tier1 TRIM7 0 genome.wustl.edu 37 5 180622664 180622664 + Silent SNP C C T TCGA-UE-A6QU-01A-12D-A32I-09 TCGA-UE-A6QU-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 8955375b-e2e4-42f6-a96f-0e14ffb8fd4b a37b1846-7265-4f3a-bc22-c1dd8350e95a 5 180622664 180622664 C T SNP TRIM7 ENST00000274773 human ensembl 74_37 -1 known silent c.1038 p.L346 1.000 superfamily_ConA-like_lec_gl_sf,smart_PRY,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin,prints_Znf_B-box_chordata - no_errors TRIM7 HGNC ENSG00000146054 tier1 - - 101 0 0.00 215 28 11.52 SEPHS1 0 genome.wustl.edu 37 10 13365015 13365015 + Missense_Mutation SNP C C T TCGA-UE-A6QU-01A-12D-A32I-09 TCGA-UE-A6QU-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 8955375b-e2e4-42f6-a96f-0e14ffb8fd4b a37b1846-7265-4f3a-bc22-c1dd8350e95a 10 13365015 13365015 C T SNP SEPHS1 ENST00000327347 human ensembl 74_37 -1 known missense c.784 p.A262T 1.000 pfam_AIR_synth_C_dom,superfamily_AIR_synth_C_dom,pirsf_SelD,tigrfam_SelD pfam_AIR_synth_C_dom,pfam_AIR_synth_N_dom,superfamily_AIR_synth_C_dom,superfamily_PurM_N-like,pirsf_SelD,tigrfam_SelD - no_errors SEPHS1 HGNC ENSG00000086475 tier1 - - 45 0 0.00 39 6 13.33 ENSG00000237281 0 genome.wustl.edu 37 2 219215889 219215890 + R INS - - T TCGA-UE-A6QU-01A-12D-A32I-09 TCGA-UE-A6QU-10B-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 8955375b-e2e4-42f6-a96f-0e14ffb8fd4b a37b1846-7265-4f3a-bc22-c1dd8350e95a 2 219215889 219215890 - T INS ENSG00000237281 ENST00000411433 human ensembl 74_37 -1 known rna NULL NULL 0.210:0.199 - - - no_errors AC021016.8 Clone_based_vega_gene ENSG00000237281 tier1 65 0 0.00 48 6 11.11 STK38 0 genome.wustl.edu 37 6 36492187 36492187 + Silent SNP C C T TCGA-UE-A6QU-01A-12D-A32I-09 TCGA-UE-A6QU-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 8955375b-e2e4-42f6-a96f-0e14ffb8fd4b a37b1846-7265-4f3a-bc22-c1dd8350e95a 6 36492187 36492187 C T SNP STK38 ENST00000229812 human ensembl 74_37 -1 known silent c.237 p.L79 0.997 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom - no_errors STK38 HGNC ENSG00000112079 tier1 - - 76 0 0.00 48 20 29.41 TRIM7 0 genome.wustl.edu 37 5 180622493 180622493 + Silent SNP C C T TCGA-UE-A6QU-01A-12D-A32I-09 TCGA-UE-A6QU-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 8955375b-e2e4-42f6-a96f-0e14ffb8fd4b a37b1846-7265-4f3a-bc22-c1dd8350e95a 5 180622493 180622493 C T SNP TRIM7 ENST00000274773 human ensembl 74_37 -1 known silent c.1209 p.V403 0.998 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin,prints_Znf_B-box_chordata - no_errors TRIM7 HGNC ENSG00000146054 tier1 - - 37 0 0.00 77 16 17.20 SLC5A5 0 genome.wustl.edu 37 19 17988575 17988575 + Missense_Mutation SNP G G C TCGA-UE-A6QU-01A-12D-A32I-09 TCGA-UE-A6QU-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 8955375b-e2e4-42f6-a96f-0e14ffb8fd4b a37b1846-7265-4f3a-bc22-c1dd8350e95a 19 17988575 17988575 G C SNP SLC5A5 ENST00000222248 human ensembl 74_37 +1 known missense c.742 p.V248L 0.001 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 SLC5A5 HGNC ENSG00000105641 tier1 - - 59 0 0.00 40 10 20.00 OTOP3 0 genome.wustl.edu 37 17 72937678 72937678 + Silent SNP A A G TCGA-UE-A6QU-01A-12D-A32I-09 TCGA-UE-A6QU-10B-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 8955375b-e2e4-42f6-a96f-0e14ffb8fd4b a37b1846-7265-4f3a-bc22-c1dd8350e95a 17 72937678 72937678 A G SNP OTOP3 ENST00000328801 human ensembl 74_37 +1 known silent c.264 p.Q88 1.000 NULL pfam_Otopetrin - no_errors OTOP3 HGNC ENSG00000182938 tier1 - - 33 0 0.00 31 8 20.51 MAGEE2 0 genome.wustl.edu 37 X 75003967 75003967 + Missense_Mutation SNP G G A TCGA-UE-A6QU-01A-12D-A32I-09 TCGA-UE-A6QU-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 8955375b-e2e4-42f6-a96f-0e14ffb8fd4b a37b1846-7265-4f3a-bc22-c1dd8350e95a X 75003967 75003967 G A SNP MAGEE2 ENST00000373359 human ensembl 74_37 -1 known missense c.920 p.S307L 0.999 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEE2 HGNC ENSG00000186675 tier1 - - 56 0 0.00 29 10 25.64 ROCK1P1 0 genome.wustl.edu 37 18 117194 117194 + R SNP C C G TCGA-UE-A6QU-01A-12D-A32I-09 TCGA-UE-A6QU-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 8955375b-e2e4-42f6-a96f-0e14ffb8fd4b a37b1846-7265-4f3a-bc22-c1dd8350e95a 18 117194 117194 C G SNP ROCK1P1 ENST00000576266 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors ROCK1P1 HGNC ENSG00000263006 tier1 - - 88 0 0.00 71 20 21.98 SNHG12 0 genome.wustl.edu 37 1 28906964 28906964 + R SNP C C G TCGA-UE-A6QU-01A-12D-A32I-09 TCGA-UE-A6QU-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 8955375b-e2e4-42f6-a96f-0e14ffb8fd4b a37b1846-7265-4f3a-bc22-c1dd8350e95a 1 28906964 28906964 C G SNP SNHG12 ENST00000384584 human ensembl 74_37 -1 known rna NULL NULL 0.812 - - - no_errors SNHG12 HGNC ENSG00000197989 tier1 - - 56 0 0.00 47 9 16.07 ZNF692 0 genome.wustl.edu 37 1 249150493 249150493 + Missense_Mutation SNP G G T TCGA-UE-A6QU-01A-12D-A32I-09 TCGA-UE-A6QU-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 8955375b-e2e4-42f6-a96f-0e14ffb8fd4b a37b1846-7265-4f3a-bc22-c1dd8350e95a 1 249150493 249150493 G T SNP ZNF692 ENST00000451251 human ensembl 74_37 -1 known missense c.668 p.P223Q 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF692 HGNC ENSG00000171163 tier1 - - 44 0 0.00 22 4 15.38 LINC00910 0 genome.wustl.edu 37 17 41466210 41466210 + R SNP T T G TCGA-UE-A6QU-01A-12D-A32I-09 TCGA-UE-A6QU-10B-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 8955375b-e2e4-42f6-a96f-0e14ffb8fd4b a37b1846-7265-4f3a-bc22-c1dd8350e95a 17 41466210 41466210 T G SNP LINC00910 ENST00000586231 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors LINC00910 HGNC ENSG00000188825 tier1 rs4792984 - 15 0 0.00 31 8 20.51 GPA33 0 genome.wustl.edu 37 1 167025040 167025040 + Silent SNP C C T TCGA-UE-A6QU-01A-12D-A32I-09 TCGA-UE-A6QU-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 8955375b-e2e4-42f6-a96f-0e14ffb8fd4b a37b1846-7265-4f3a-bc22-c1dd8350e95a 1 167025040 167025040 C T SNP GPA33 ENST00000367868 human ensembl 74_37 -1 known silent c.618 p.S206 0.003 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors GPA33 HGNC ENSG00000143167 tier1 rs149640714 - 57 0 0.00 60 15 20.00 FAM47A 0 genome.wustl.edu 37 X 34148570 34148570 + Missense_Mutation SNP C C T TCGA-UE-A6QU-01A-12D-A32I-09 TCGA-UE-A6QU-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 8955375b-e2e4-42f6-a96f-0e14ffb8fd4b a37b1846-7265-4f3a-bc22-c1dd8350e95a X 34148570 34148570 C T SNP FAM47A ENST00000346193 human ensembl 74_37 -1 known missense c.1826 p.R609H 0.000 NULL NULL - no_errors FAM47A HGNC ENSG00000185448 tier1 - - 59 0 0.00 63 7 10.00 UNC5D 0 genome.wustl.edu 37 8 35608292 35608292 + Missense_Mutation SNP G G T TCGA-UE-A6QU-01A-12D-A32I-09 TCGA-UE-A6QU-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 8955375b-e2e4-42f6-a96f-0e14ffb8fd4b a37b1846-7265-4f3a-bc22-c1dd8350e95a 8 35608292 35608292 G T SNP UNC5D ENST00000404895 human ensembl 74_37 +1 known missense c.2128 p.V710F 1.000 NULL pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death_domain,pfam_Immunoglobulin,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom - no_errors UNC5D HGNC ENSG00000156687 tier1 - - 54 0 0.00 45 4 8.16 THRA 0 genome.wustl.edu 37 17 38240109 38240109 + Nonsense_Mutation SNP C C T TCGA-UE-A6QU-01A-12D-A32I-09 TCGA-UE-A6QU-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 8955375b-e2e4-42f6-a96f-0e14ffb8fd4b a37b1846-7265-4f3a-bc22-c1dd8350e95a 17 38240109 38240109 C T SNP THRA ENST00000264637 human ensembl 74_37 +1 known nonsense c.244 p.Q82* 1.000 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_ThyrH_rcpt,prints_Znf_hrmn_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_ThyrH_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors THRA HGNC ENSG00000126351 tier1 - - 40 0 0.00 29 18 38.30 RIN2 0 genome.wustl.edu 37 20 19915798 19915798 + Missense_Mutation SNP C C G TCGA-UE-A6QU-01A-12D-A32I-09 TCGA-UE-A6QU-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 8955375b-e2e4-42f6-a96f-0e14ffb8fd4b a37b1846-7265-4f3a-bc22-c1dd8350e95a 20 19915798 19915798 C G SNP RIN2 ENST00000255006 human ensembl 74_37 +1 known missense c.260 p.T87R 1.000 NULL pfam_VPS9,pfam_Ras-assoc,smart_VPS9_subgr,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SH2,pfscan_VPS9 - no_errors RIN2 HGNC ENSG00000132669 tier1 - - 82 0 0.00 64 6 8.57 C1orf87 0 genome.wustl.edu 37 1 60491105 60491105 + Silent SNP G G A TCGA-UE-A6QU-01A-12D-A32I-09 TCGA-UE-A6QU-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 8955375b-e2e4-42f6-a96f-0e14ffb8fd4b a37b1846-7265-4f3a-bc22-c1dd8350e95a 1 60491105 60491105 G A SNP C1orf87 ENST00000371201 human ensembl 74_37 -1 known silent c.1095 p.N365 0.928 NULL NULL - no_errors C1orf87 HGNC ENSG00000162598 tier1 rs147855127 GMAF=0.0005 52 0 0.00 29 26 47.27 FMN2 0 genome.wustl.edu 37 1 240255905 240255905 + Missense_Mutation SNP G G T TCGA-UE-A6QU-01A-12D-A32I-09 TCGA-UE-A6QU-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 8955375b-e2e4-42f6-a96f-0e14ffb8fd4b a37b1846-7265-4f3a-bc22-c1dd8350e95a 1 240255905 240255905 G T SNP FMN2 ENST00000319653 human ensembl 74_37 +1 known missense c.496 p.A166S 0.029 NULL pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 tier1 - - 104 0 0.00 130 19 12.75 TRPM6 0 genome.wustl.edu 37 9 77343190 77343190 + Missense_Mutation SNP T T C TCGA-UE-A6QU-01A-12D-A32I-09 TCGA-UE-A6QU-10B-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 8955375b-e2e4-42f6-a96f-0e14ffb8fd4b a37b1846-7265-4f3a-bc22-c1dd8350e95a 9 77343190 77343190 T C SNP TRPM6 ENST00000451710 human ensembl 74_37 -1 known missense c.5912 p.H1971R 1.000 pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors TRPM6 HGNC ENSG00000119121 tier1 - - 90 0 0.00 54 22 28.95 EFCAB2 0 genome.wustl.edu 37 1 245133623 245133624 + Frame_Shift_Ins INS - - CCTCC TCGA-UE-A6QU-01A-12D-A32I-09 TCGA-UE-A6QU-10B-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 8955375b-e2e4-42f6-a96f-0e14ffb8fd4b a37b1846-7265-4f3a-bc22-c1dd8350e95a 1 245133623 245133624 - CCTCC INS EFCAB2 ENST00000366522 human ensembl 74_37 +1 known frame_shift_ins c.199_200 p.R69fs 0.000:0.000 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors EFCAB2 HGNC ENSG00000203666 tier1 RARB 0 genome.wustl.edu 37 3 25622051 25622051 + Silent SNP C C T TCGA-UE-A6QU-01A-12D-A32I-09 TCGA-UE-A6QU-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 8955375b-e2e4-42f6-a96f-0e14ffb8fd4b a37b1846-7265-4f3a-bc22-c1dd8350e95a 3 25622051 25622051 C T SNP RARB ENST00000404969 human ensembl 74_37 +1 known silent c.645 p.D215 0.997 superfamily_Nucl_hormone_rcpt_ligand-bd,prints_Retinoic_acid_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4 - no_errors RARB HGNC ENSG00000077092 tier1 - - 71 0 0.00 73 11 13.10 HEATR2 0 genome.wustl.edu 37 7 796579 796579 + Missense_Mutation SNP C C A TCGA-UE-A6QU-01A-12D-A32I-09 TCGA-UE-A6QU-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 8955375b-e2e4-42f6-a96f-0e14ffb8fd4b a37b1846-7265-4f3a-bc22-c1dd8350e95a 7 796579 796579 C A SNP HEATR2 ENST00000297440 human ensembl 74_37 +1 known missense c.1418 p.A473E 0.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors HEATR2 HGNC ENSG00000164818 tier1 - - 17 0 0.00 13 5 27.78 MALAT1 0 genome.wustl.edu 37 11 65271779 65271780 + R INS - - T TCGA-UE-A6QU-01A-12D-A32I-09 TCGA-UE-A6QU-10B-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 8955375b-e2e4-42f6-a96f-0e14ffb8fd4b a37b1846-7265-4f3a-bc22-c1dd8350e95a 11 65271779 65271780 - T INS MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 0.994:0.994 - - - no_errors MALAT1 HGNC ENSG00000251562 tier1 22 0 0.00 29 4 12.12 ENSG00000263272 0 genome.wustl.edu 37 17 5336015 5336016 + R INS - - A TCGA-UE-A6QU-01A-12D-A32I-09 TCGA-UE-A6QU-10B-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 8955375b-e2e4-42f6-a96f-0e14ffb8fd4b a37b1846-7265-4f3a-bc22-c1dd8350e95a 17 5336015 5336016 - A INS ENSG00000263272 ENST00000575890 human ensembl 74_37 -1 known rna NULL NULL 0.046:0.076 - - - no_errors CTC-524C5.2 Clone_based_vega_gene ENSG00000263272 tier1 20 0 0.00 23 3 11.54 FBN3 0 genome.wustl.edu 37 19 8146270 8146270 + Silent SNP C C T TCGA-UE-A6QU-01A-12D-A32I-09 TCGA-UE-A6QU-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 8955375b-e2e4-42f6-a96f-0e14ffb8fd4b a37b1846-7265-4f3a-bc22-c1dd8350e95a 19 8146270 8146270 C T SNP FBN3 ENST00000270509 human ensembl 74_37 -1 known silent c.7308 p.L2436 0.997 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN3 HGNC ENSG00000142449 tier1 - - 58 0 0.00 55 9 14.06 NTSR1 0 genome.wustl.edu 37 20 61340977 61340977 + Missense_Mutation SNP G G T TCGA-UE-A6QU-01A-12D-A32I-09 TCGA-UE-A6QU-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 8955375b-e2e4-42f6-a96f-0e14ffb8fd4b a37b1846-7265-4f3a-bc22-c1dd8350e95a 20 61340977 61340977 G T SNP NTSR1 ENST00000370501 human ensembl 74_37 +1 known missense c.418 p.G140C 0.820 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_NT_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_NT1_rcpt,prints_GPCR_Rhodpsn,prints_NT_rcpt - no_errors NTSR1 HGNC ENSG00000101188 tier1 - - 29 0 0.00 32 12 27.27 SLC8A3 0 genome.wustl.edu 37 14 70512750 70512750 + Missense_Mutation SNP C C T TCGA-UE-A6QU-01A-12D-A32I-09 TCGA-UE-A6QU-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 8955375b-e2e4-42f6-a96f-0e14ffb8fd4b a37b1846-7265-4f3a-bc22-c1dd8350e95a 14 70512750 70512750 C T SNP SLC8A3 ENST00000381269 human ensembl 74_37 -1 known missense c.2698 p.A900T 0.994 pfam_NaCa_Exmemb,tigrfam_Na_Ca_Ex pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,prints_Na_Ca_Ex,tigrfam_Na_Ca_Ex - no_errors SLC8A3 HGNC ENSG00000100678 tier1 - - 32 0 0.00 32 12 27.27 TOLLIP 0 genome.wustl.edu 37 11 1311571 1311571 + Silent SNP C C T TCGA-UE-A6QU-01A-12D-A32I-09 TCGA-UE-A6QU-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 8955375b-e2e4-42f6-a96f-0e14ffb8fd4b a37b1846-7265-4f3a-bc22-c1dd8350e95a 11 1311571 1311571 C T SNP TOLLIP ENST00000317204 human ensembl 74_37 -1 known silent c.252 p.A84 0.001 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom pfam_CUE,pfam_C2_dom,superfamily_C2_dom,superfamily_UBA-like,smart_C2_dom,smart_CUE,pfscan_CUE - no_errors TOLLIP HGNC ENSG00000078902 tier1 - - 68 0 0.00 33 5 13.16 RTN4 0 genome.wustl.edu 37 2 55254362 55254363 + Frame_Shift_Del DEL CT CT - TCGA-UE-A6QU-01A-12D-A32I-09 TCGA-UE-A6QU-10B-01D-A32I-09 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 8955375b-e2e4-42f6-a96f-0e14ffb8fd4b a37b1846-7265-4f3a-bc22-c1dd8350e95a 2 55254362 55254363 CT - DEL RTN4 ENST00000337526 human ensembl 74_37 -1 known frame_shift_del c.873_872 p.E291fs 0.082:0.235 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN4 HGNC ENSG00000115310 tier1 61 0 0.00 56 13 18.84 UNC5B 0 genome.wustl.edu 37 10 73048357 73048357 + Missense_Mutation SNP T T A TCGA-UE-A6QU-01A-12D-A32I-09 TCGA-UE-A6QU-10B-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 8955375b-e2e4-42f6-a96f-0e14ffb8fd4b a37b1846-7265-4f3a-bc22-c1dd8350e95a 10 73048357 73048357 T A SNP UNC5B ENST00000335350 human ensembl 74_37 +1 known missense c.934 p.S312T 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ZU5,pfam_Ig_I-set,pfam_Death_domain,pfam_Thrombospondin_1_rpt,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom - no_errors UNC5B HGNC ENSG00000107731 tier1 - - 22 0 0.00 3 10 76.92 NOV 0 genome.wustl.edu 37 8 120431473 120431473 + Missense_Mutation SNP T T C TCGA-UE-A6QU-01A-12D-A32I-09 TCGA-UE-A6QU-10B-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 8955375b-e2e4-42f6-a96f-0e14ffb8fd4b a37b1846-7265-4f3a-bc22-c1dd8350e95a 8 120431473 120431473 T C SNP NOV ENST00000259526 human ensembl 74_37 +1 known missense c.665 p.M222T 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pirsf_IGFBP_CNN,pfscan_Thrombospondin_1_rpt pfam_IGFBP-like,pfam_Cys_knot,pfam_VWF_C,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors NOV HGNC ENSG00000136999 tier1 - - 56 0 0.00 41 7 14.58 BTN1A1 0 genome.wustl.edu 37 6 26509300 26509300 + Missense_Mutation SNP G G T TCGA-UE-A6QU-01A-12D-A32I-09 TCGA-UE-A6QU-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 8955375b-e2e4-42f6-a96f-0e14ffb8fd4b a37b1846-7265-4f3a-bc22-c1dd8350e95a 6 26509300 26509300 G T SNP BTN1A1 ENST00000244513 human ensembl 74_37 +1 known missense c.1479 p.K493N 0.851 NULL pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like_dom,prints_Butyrophylin - no_errors BTN1A1 HGNC ENSG00000124557 tier1 - - 49 0 0.00 38 4 9.52 ZNF418 0 genome.wustl.edu 37 19 58438975 58438975 + Missense_Mutation SNP A A G TCGA-UE-A6QU-01A-12D-A32I-09 TCGA-UE-A6QU-10B-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 8955375b-e2e4-42f6-a96f-0e14ffb8fd4b a37b1846-7265-4f3a-bc22-c1dd8350e95a 19 58438975 58438975 A G SNP ZNF418 ENST00000396147 human ensembl 74_37 -1 known missense c.574 p.C192R 0.582 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 ZNF418 HGNC ENSG00000196724 tier1 - - 63 0 0.00 35 17 32.69 MRPL4 0 genome.wustl.edu 37 19 10370387 10370387 + Silent SNP A A T TCGA-UE-A6QU-01A-12D-A32I-09 TCGA-UE-A6QU-10B-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 8955375b-e2e4-42f6-a96f-0e14ffb8fd4b a37b1846-7265-4f3a-bc22-c1dd8350e95a 19 10370387 10370387 A T SNP MRPL4 ENST00000253099 human ensembl 74_37 +1 known silent c.834 p.S278 0.000 NULL pfam_Ribosomal_L4/L1e,superfamily_Ribosomal_L4_dom,tigrfam_Ribosomal_L4/L1e_bac-type - no_errors MRPL4 HGNC ENSG00000105364 tier1 - - 93 0 0.00 90 9 9.00 TRAK1 0 genome.wustl.edu 37 3 42251577 42251578 + In_Frame_Ins INS - - GGAGGA TCGA-UE-A6QU-01A-12D-A32I-09 TCGA-UE-A6QU-10B-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 8955375b-e2e4-42f6-a96f-0e14ffb8fd4b a37b1846-7265-4f3a-bc22-c1dd8350e95a 3 42251577 42251578 - GGAGGA INS TRAK1 ENST00000341421 human ensembl 74_37 +1 known in_frame_ins c.1889_1890 p.634in_frame_insEE 0.010:0.044 NULL pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom - no_errors TRAK1 HGNC ENSG00000182606 tier1 WDR24 0 genome.wustl.edu 37 16 737641 737641 + Missense_Mutation SNP G G A TCGA-UE-A6QU-01A-12D-A32I-09 TCGA-UE-A6QU-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 8955375b-e2e4-42f6-a96f-0e14ffb8fd4b a37b1846-7265-4f3a-bc22-c1dd8350e95a 16 737641 737641 G A SNP WDR24 ENST00000248142 human ensembl 74_37 -1 known missense c.970 p.R324W 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR24 HGNC ENSG00000127580 tier1 - - 40 0 0.00 30 5 14.29 MYO15A 0 genome.wustl.edu 37 17 18042602 18042602 + R SNP G G A TCGA-UE-A6QU-01A-12D-A32I-09 TCGA-UE-A6QU-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 8955375b-e2e4-42f6-a96f-0e14ffb8fd4b a37b1846-7265-4f3a-bc22-c1dd8350e95a 17 18042602 18042602 G A SNP MYO15A ENST00000412324 human ensembl 74_37 +1 known rna NULL NULL 0.010 - - - no_errors MYO15A HGNC ENSG00000091536 tier1 - - 25 0 0.00 23 25 52.08 LGR6 0 genome.wustl.edu 37 1 202183341 202183341 + Missense_Mutation SNP G G A TCGA-UE-A6QU-01A-12D-A32I-09 TCGA-UE-A6QU-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 8955375b-e2e4-42f6-a96f-0e14ffb8fd4b a37b1846-7265-4f3a-bc22-c1dd8350e95a 1 202183341 202183341 G A SNP LGR6 ENST00000439764 human ensembl 74_37 +1 known missense c.59 p.G20E 0.001 NULL pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,smart_Leu-rich_rpt_typical-subtyp,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn - no_errors LGR6 HGNC ENSG00000133067 tier1 - - 77 0 0.00 44 26 37.14 EP400NL 0 genome.wustl.edu 37 12 132603415 132603416 + R INS - - GGCAGA TCGA-UE-A6QU-01A-12D-A32I-09 TCGA-UE-A6QU-10B-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 8955375b-e2e4-42f6-a96f-0e14ffb8fd4b a37b1846-7265-4f3a-bc22-c1dd8350e95a 12 132603415 132603416 - GGCAGA INS EP400NL ENST00000475841 human ensembl 74_37 +1 known rna NULL NULL 0.945:0.951 - - - no_errors EP400NL HGNC ENSG00000185684 tier1 FLT4 0 genome.wustl.edu 37 5 180048109 180048109 + Missense_Mutation SNP A A T TCGA-UE-A6QU-01A-12D-A32I-09 TCGA-UE-A6QU-10B-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 8955375b-e2e4-42f6-a96f-0e14ffb8fd4b a37b1846-7265-4f3a-bc22-c1dd8350e95a 5 180048109 180048109 A T SNP FLT4 ENST00000261937 human ensembl 74_37 -1 known missense c.2164 p.S722T 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR3_rcpt - no_errors FLT4 HGNC ENSG00000037280 tier1 - - 47 0 0.00 101 10 9.01 PHLPP1 0 genome.wustl.edu 37 18 60630681 60630681 + Missense_Mutation SNP C C G TCGA-UE-A6QU-01A-12D-A32I-09 TCGA-UE-A6QU-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 8955375b-e2e4-42f6-a96f-0e14ffb8fd4b a37b1846-7265-4f3a-bc22-c1dd8350e95a 18 60630681 60630681 C G SNP PHLPP1 ENST00000262719 human ensembl 74_37 +1 known missense c.3536 p.T1179S 1.000 pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom pfam_PP2C-like_dom,pfam_Leu-rich_rpt,superfamily_PP2C-like_dom,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like_dom,pfscan_Pleckstrin_homology - no_errors PHLPP1 HGNC ENSG00000081913 tier1 - - 93 0 0.00 81 14 14.74 DH9 0 genome.wustl.edu 37 17 11603120 11603120 + Missense_Mutation SNP C C A TCGA-UE-A6QU-01A-12D-A32I-09 TCGA-UE-A6QU-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 8955375b-e2e4-42f6-a96f-0e14ffb8fd4b a37b1846-7265-4f3a-bc22-c1dd8350e95a 17 11603120 11603120 C A SNP DH9 ENST00000262442 human ensembl 74_37 +1 known missense c.4945 p.P1649T 0.975 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DH9 HGNC ENSG00000007174 tier1 - - 58 0 0.00 63 49 43.75 LRCH2 0 genome.wustl.edu 37 X 114357669 114357669 + Nonsense_Mutation SNP G G A TCGA-UE-A6QU-01A-12D-A32I-09 TCGA-UE-A6QU-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 8955375b-e2e4-42f6-a96f-0e14ffb8fd4b a37b1846-7265-4f3a-bc22-c1dd8350e95a X 114357669 114357669 G A SNP LRCH2 ENST00000317135 human ensembl 74_37 -1 known nonsense c.1936 p.R646* 1.000 superfamily_CH-domain,pfscan_CH-domain pfam_Leu-rich_rpt,pfam_CH-domain,superfamily_CH-domain,superfamily_-bd_OB-fold,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain - no_errors LRCH2 HGNC ENSG00000130224 tier1 - - 57 0 0.00 44 4 8.33 CAMKK1 0 genome.wustl.edu 37 17 3769248 3769248 + Missense_Mutation SNP C C A TCGA-UE-A6QU-01A-12D-A32I-09 TCGA-UE-A6QU-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 8955375b-e2e4-42f6-a96f-0e14ffb8fd4b a37b1846-7265-4f3a-bc22-c1dd8350e95a 17 3769248 3769248 C A SNP CAMKK1 ENST00000381771 human ensembl 74_37 -1 known missense c.1513 p.A505S 0.014 superfamily_Kinase-like_dom pfam_Prot_kinase_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_dom - no_errors CAMKK1 HGNC ENSG00000004660 tier1 - - 39 0 0.00 43 17 28.33 LOC730102 0 genome.wustl.edu 37 1 177977233 177977233 + R SNP G G T TCGA-UE-A6QU-01A-12D-A32I-09 TCGA-UE-A6QU-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 8955375b-e2e4-42f6-a96f-0e14ffb8fd4b a37b1846-7265-4f3a-bc22-c1dd8350e95a 1 177977233 177977233 G T SNP LOC730102 ENST00000476232 human ensembl 74_37 -1 known rna NULL NULL 0.962 - - - no_errors RP11-568K15.1 Clone_based_vega_gene ENSG00000242193 tier1 - - 107 0 0.00 82 36 30.51 ENSG00000267462 0 genome.wustl.edu 37 18 57678376 57678376 + R SNP C C T TCGA-UE-A6QU-01A-12D-A32I-09 TCGA-UE-A6QU-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 8955375b-e2e4-42f6-a96f-0e14ffb8fd4b a37b1846-7265-4f3a-bc22-c1dd8350e95a 18 57678376 57678376 C T SNP ENSG00000267462 ENST00000585691 human ensembl 74_37 +1 known rna NULL NULL 0.014 - - - no_errors RP11-866E20.3 Clone_based_vega_gene ENSG00000267462 tier1 - - 34 0 0.00 38 9 19.15 RASGRF2 0 genome.wustl.edu 37 5 80503117 80503117 + Missense_Mutation SNP C C A TCGA-UE-A6QU-01A-12D-A32I-09 TCGA-UE-A6QU-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 8955375b-e2e4-42f6-a96f-0e14ffb8fd4b a37b1846-7265-4f3a-bc22-c1dd8350e95a 5 80503117 80503117 C A SNP RASGRF2 ENST00000265080 human ensembl 74_37 +1 known missense c.3020 p.A1007E 1.000 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRF2 HGNC ENSG00000113319 tier1 - - 47 0 0.00 43 4 8.51 FGFR4 0 genome.wustl.edu 37 5 176520502 176520502 + Nonsense_Mutation SNP C C A TCGA-UE-A6QU-01A-12D-A32I-09 TCGA-UE-A6QU-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 8955375b-e2e4-42f6-a96f-0e14ffb8fd4b a37b1846-7265-4f3a-bc22-c1dd8350e95a 5 176520502 176520502 C A SNP FGFR4 ENST00000393648 human ensembl 74_37 +1 novel nonsense c.1193 p.S398* 0.997 pirsf_FGF_rcpt_fam,superfamily_Kinase-like_dom pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors FGFR4 HGNC ENSG00000160867 tier1 - - 37 0 0.00 45 5 10.00 SLK 0 genome.wustl.edu 37 10 105762686 105762686 + Missense_Mutation SNP T T G TCGA-UE-A6QU-01A-12D-A32I-09 TCGA-UE-A6QU-10B-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 8955375b-e2e4-42f6-a96f-0e14ffb8fd4b a37b1846-7265-4f3a-bc22-c1dd8350e95a 10 105762686 105762686 T G SNP SLK ENST00000369755 human ensembl 74_37 +1 known missense c.1750 p.L584V 0.001 superfamily_Kinase-like_dom pfam_PKK,pfam_Prot_kinase_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_UVR_dom,pfscan_Prot_kinase_dom - no_errors SLK HGNC ENSG00000065613 tier1 - - 35 0 0.00 40 9 18.37 GRHPR 0 genome.wustl.edu 37 9 37424844 37424844 + Missense_Mutation SNP G G T TCGA-UE-A6QU-01A-12D-A32I-09 TCGA-UE-A6QU-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 8955375b-e2e4-42f6-a96f-0e14ffb8fd4b a37b1846-7265-4f3a-bc22-c1dd8350e95a 9 37424844 37424844 G T SNP GRHPR ENST00000318158 human ensembl 74_37 +1 known missense c.86 p.C29F 1.000 pfam_D-isomer_2_OHA_DH_cat_dom pfam_D-isomer_2_OHA_DH_D-bd,pfam_D-isomer_2_OHA_DH_cat_dom,pfam_6PGDH_DP-bd - no_errors GRHPR HGNC ENSG00000137106 tier1 - - 66 0 0.00 44 15 25.42 HIPK1 0 genome.wustl.edu 37 1 114499908 114499908 + Missense_Mutation SNP G G T TCGA-UE-A6QU-01A-12D-A32I-09 TCGA-UE-A6QU-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 8955375b-e2e4-42f6-a96f-0e14ffb8fd4b a37b1846-7265-4f3a-bc22-c1dd8350e95a 1 114499908 114499908 G T SNP HIPK1 ENST00000369558 human ensembl 74_37 +1 known missense c.1755 p.Q585H 1.000 NULL pfam_Prot_kinase_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_dom - no_errors HIPK1 HGNC ENSG00000163349 tier1 - - 37 0 0.00 41 4 8.89 ZNF10 0 genome.wustl.edu 37 12 133733335 133733335 + Silent SNP G G A TCGA-UE-A6QU-01A-12D-A32I-09 TCGA-UE-A6QU-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 8955375b-e2e4-42f6-a96f-0e14ffb8fd4b a37b1846-7265-4f3a-bc22-c1dd8350e95a 12 133733335 133733335 G A SNP ZNF10 ENST00000248211 human ensembl 74_37 +1 known silent c.1503 p.K501 0.085 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 ZNF10 HGNC ENSG00000256223 tier1 - - 46 0 0.00 39 8 16.67 ENSG00000207207 0 genome.wustl.edu 37 2 85661740 85661741 + R INS - - A TCGA-UE-A6QU-01A-12D-A32I-09 TCGA-UE-A6QU-10B-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 8955375b-e2e4-42f6-a96f-0e14ffb8fd4b a37b1846-7265-4f3a-bc22-c1dd8350e95a 2 85661740 85661741 - A INS ENSG00000207207 ENST00000384478 human ensembl 74_37 +1 novel rna NULL NULL 0.003:0.006 - - - no_errors Y_R RFAM ENSG00000207207 tier1 8 0 0.00 21 3 12.50 DST 0 genome.wustl.edu 37 6 56358840 56358840 + Missense_Mutation SNP C C T TCGA-UE-A6QU-01A-12D-A32I-09 TCGA-UE-A6QU-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 8955375b-e2e4-42f6-a96f-0e14ffb8fd4b a37b1846-7265-4f3a-bc22-c1dd8350e95a 6 56358840 56358840 C T SNP DST ENST00000370754 human ensembl 74_37 -1 known missense c.20269 p.E6757K 1.000 pfam_Spectrin_repeat,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 tier1 - - 42 0 0.00 31 19 38.00 PTPRN 0 genome.wustl.edu 37 2 220167489 220167489 + Missense_Mutation SNP C C T TCGA-UE-A6QU-01A-12D-A32I-09 TCGA-UE-A6QU-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 8955375b-e2e4-42f6-a96f-0e14ffb8fd4b a37b1846-7265-4f3a-bc22-c1dd8350e95a 2 220167489 220167489 C T SNP PTPRN ENST00000295718 human ensembl 74_37 -1 known missense c.448 p.A150T 0.011 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRN HGNC ENSG00000054356 tier1 rs201131601 GMAF=0.0005 68 0 0.00 47 6 11.32 LETM2 0 genome.wustl.edu 37 8 38264976 38264976 + Missense_Mutation SNP G G A TCGA-UE-A6QU-01A-12D-A32I-09 TCGA-UE-A6QU-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 8955375b-e2e4-42f6-a96f-0e14ffb8fd4b a37b1846-7265-4f3a-bc22-c1dd8350e95a 8 38264976 38264976 G A SNP LETM2 ENST00000379957 human ensembl 74_37 +1 known missense c.1408 p.E470K 1.000 NULL pfam_LETM1 - no_errors LETM2 HGNC ENSG00000165046 tier1 - - 64 0 0.00 70 15 17.65 LOC730102 0 genome.wustl.edu 37 1 177977224 177977224 + R SNP G G C TCGA-UE-A6QU-01A-12D-A32I-09 TCGA-UE-A6QU-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 8955375b-e2e4-42f6-a96f-0e14ffb8fd4b a37b1846-7265-4f3a-bc22-c1dd8350e95a 1 177977224 177977224 G C SNP LOC730102 ENST00000476232 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-568K15.1 Clone_based_vega_gene ENSG00000242193 tier1 - - 116 0 0.00 85 36 29.75 MAP1B 0 genome.wustl.edu 37 5 71495628 71495628 + Nonsense_Mutation SNP C C A TCGA-UE-A6QU-01A-12D-A32I-09 TCGA-UE-A6QU-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 8955375b-e2e4-42f6-a96f-0e14ffb8fd4b a37b1846-7265-4f3a-bc22-c1dd8350e95a 5 71495628 71495628 C A SNP MAP1B ENST00000296755 human ensembl 74_37 +1 known nonsense c.6446 p.S2149* 1.000 NULL pfam_MAP1B_neuraxin - no_errors MAP1B HGNC ENSG00000131711 tier1 - - 33 0 0.00 23 4 14.81 LAYN 0 genome.wustl.edu 37 11 111425989 111425989 + Missense_Mutation SNP C C T TCGA-UE-A6QU-01A-12D-A32I-09 TCGA-UE-A6QU-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 8955375b-e2e4-42f6-a96f-0e14ffb8fd4b a37b1846-7265-4f3a-bc22-c1dd8350e95a 11 111425989 111425989 C T SNP LAYN ENST00000375615 human ensembl 74_37 +1 known missense c.656 p.A219V 1.000 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors LAYN HGNC ENSG00000204381 tier1 - - 40 0 0.00 45 4 8.16 ADAM22 0 genome.wustl.edu 37 7 87746112 87746112 + Missense_Mutation SNP T T G TCGA-UE-A6QU-01A-12D-A32I-09 TCGA-UE-A6QU-10B-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 8955375b-e2e4-42f6-a96f-0e14ffb8fd4b a37b1846-7265-4f3a-bc22-c1dd8350e95a 7 87746112 87746112 T G SNP ADAM22 ENST00000265727 human ensembl 74_37 +1 known missense c.590 p.L197W 1.000 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_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM22 HGNC ENSG00000008277 tier1 - - 38 0 0.00 32 5 13.51 RYR3 0 genome.wustl.edu 37 15 34015055 34015055 + Missense_Mutation SNP C C G TCGA-UE-A6QU-01A-12D-A32I-09 TCGA-UE-A6QU-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 8955375b-e2e4-42f6-a96f-0e14ffb8fd4b a37b1846-7265-4f3a-bc22-c1dd8350e95a 15 34015055 34015055 C G SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known missense c.6759 p.N2253K 0.994 NULL pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,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,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 tier1 - - 42 0 0.00 50 8 13.79 FAM189A2 0 genome.wustl.edu 37 9 72003271 72003271 + Missense_Mutation SNP G G C TCGA-UE-A6QU-01A-12D-A32I-09 TCGA-UE-A6QU-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 8955375b-e2e4-42f6-a96f-0e14ffb8fd4b a37b1846-7265-4f3a-bc22-c1dd8350e95a 9 72003271 72003271 G C SNP FAM189A2 ENST00000257515 human ensembl 74_37 +1 known missense c.1054 p.D352H 1.000 NULL pfam_CD20-like - no_errors FAM189A2 HGNC ENSG00000135063 tier1 - - 40 0 0.00 51 9 14.75 ENSG00000237031 0 genome.wustl.edu 37 2 80831148 80831148 + R SNP T T A TCGA-UE-A6QU-01A-12D-A32I-09 TCGA-UE-A6QU-10B-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 8955375b-e2e4-42f6-a96f-0e14ffb8fd4b a37b1846-7265-4f3a-bc22-c1dd8350e95a 2 80831148 80831148 T A SNP ENSG00000237031 ENST00000595478 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC008067.2 Clone_based_vega_gene ENSG00000237031 tier1 - - 49 0 0.00 43 8 15.69 MATN3 0 genome.wustl.edu 37 2 20196958 20196958 + Missense_Mutation SNP C C T TCGA-UE-A6QU-01A-12D-A32I-09 TCGA-UE-A6QU-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 8955375b-e2e4-42f6-a96f-0e14ffb8fd4b a37b1846-7265-4f3a-bc22-c1dd8350e95a 2 20196958 20196958 C T SNP MATN3 ENST00000407540 human ensembl 74_37 -1 known missense c.1231 p.A411T 0.000 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_VWF_A,pfam_Matrilin_coiled-coil_trimer,pfam_EGF-like_Ca-bd_dom,smart_VWF_A,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_A - no_errors MATN3 HGNC ENSG00000132031 tier1 - - 22 0 0.00 22 4 15.38 FUT2 0 genome.wustl.edu 37 19 49207147 49207147 + Missense_Mutation SNP C C T TCGA-UE-A6QU-01A-12D-A32I-09 TCGA-UE-A6QU-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 8955375b-e2e4-42f6-a96f-0e14ffb8fd4b a37b1846-7265-4f3a-bc22-c1dd8350e95a 19 49207147 49207147 C T SNP FUT2 ENST00000391876 human ensembl 74_37 +1 known missense c.934 p.P312S 0.993 pfam_Glyco_trans_11 pfam_Glyco_trans_11 - no_errors FUT2 HGNC ENSG00000176920 tier1 - - 57 0 0.00 44 7 13.73 NFASC 0 genome.wustl.edu 37 1 204966566 204966566 + R SNP T T A TCGA-UE-A6QU-01A-12D-A32I-09 TCGA-UE-A6QU-10B-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 8955375b-e2e4-42f6-a96f-0e14ffb8fd4b a37b1846-7265-4f3a-bc22-c1dd8350e95a 1 204966566 204966566 T A SNP NFASC ENST00000492085 human ensembl 74_37 +1 known rna NULL NULL 0.169 - - - no_errors NFASC HGNC ENSG00000163531 tier1 - - 56 0 0.00 41 8 15.69 CYP2B7P1 0 genome.wustl.edu 37 19 41450278 41450278 + R SNP G G A TCGA-UE-A6QU-01A-12D-A32I-09 TCGA-UE-A6QU-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 8955375b-e2e4-42f6-a96f-0e14ffb8fd4b a37b1846-7265-4f3a-bc22-c1dd8350e95a 19 41450278 41450278 G A SNP CYP2B7P1 ENST00000599198 human ensembl 74_37 +1 known rna NULL NULL 0.231 - - - no_errors CYP2B7P1 HGNC ENSG00000256612 tier1 - - 51 0 0.00 42 13 23.64 FAM13A 0 genome.wustl.edu 37 4 89772181 89772181 + Silent SNP A A G TCGA-UE-A6QU-01A-12D-A32I-09 TCGA-UE-A6QU-10B-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 8955375b-e2e4-42f6-a96f-0e14ffb8fd4b a37b1846-7265-4f3a-bc22-c1dd8350e95a 4 89772181 89772181 A G SNP FAM13A ENST00000264344 human ensembl 74_37 -1 known silent c.997 p.L333 0.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors FAM13A HGNC ENSG00000138640 tier1 - - 64 0 0.00 37 15 28.85 OR1S1 0 genome.wustl.edu 37 11 57982428 57982428 + Missense_Mutation SNP C C A TCGA-UE-A6QU-01A-12D-A32I-09 TCGA-UE-A6QU-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 8955375b-e2e4-42f6-a96f-0e14ffb8fd4b a37b1846-7265-4f3a-bc22-c1dd8350e95a 11 57982428 57982428 C A SNP OR1S1 ENST00000309433 human ensembl 74_37 +1 known missense c.212 p.P71H 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1S1 HGNC ENSG00000172774 tier1 - - 85 0 0.00 107 16 13.01 CCDC180 0 genome.wustl.edu 37 9 100105638 100105638 + Missense_Mutation SNP A A G TCGA-UE-A6QU-01A-12D-A32I-09 TCGA-UE-A6QU-10B-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 8955375b-e2e4-42f6-a96f-0e14ffb8fd4b a37b1846-7265-4f3a-bc22-c1dd8350e95a 9 100105638 100105638 A G SNP CCDC180 ENST00000375202 human ensembl 74_37 +1 known missense c.2423 p.E808G 0.513 NULL NULL - no_errors CCDC180 HGNC ENSG00000197816 tier1 rs146215337 - 58 0 0.00 39 11 22.00 ACAD10 0 genome.wustl.edu 37 12 112167713 112167713 + Silent SNP C C G TCGA-UE-A6QU-01A-12D-A32I-09 TCGA-UE-A6QU-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 8955375b-e2e4-42f6-a96f-0e14ffb8fd4b a37b1846-7265-4f3a-bc22-c1dd8350e95a 12 112167713 112167713 C G SNP ACAD10 ENST00000455480 human ensembl 74_37 +1 known silent c.1440 p.L480 0.000 pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom pfam_Aminoglycoside_PTrfase,pfam_AcylCo_DH/oxidase_C,pfam_Acyl-CoA_DH_2_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_HAD-like_dom,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_Kinase-like_dom,superfamily_AcylCo_DH/oxidase_C,superfamily_HAD-like_dom,prints_HAD-SF_hydro_IA,tigrfam_HAD-SF_ppase_IA/epoxid_hydro_N,tigrfam_HAD-SF_hydro_IA - no_errors ACAD10 HGNC ENSG00000111271 tier1 - - 47 0 0.00 46 9 16.36 FBLN2 0 genome.wustl.edu 37 3 13613122 13613122 + Missense_Mutation SNP C C T TCGA-UE-A6QU-01A-12D-A32I-09 TCGA-UE-A6QU-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 8955375b-e2e4-42f6-a96f-0e14ffb8fd4b a37b1846-7265-4f3a-bc22-c1dd8350e95a 3 13613122 13613122 C T SNP FBLN2 ENST00000404922 human ensembl 74_37 +1 known missense c.1267 p.P423S 1.000 NULL pfam_EGF-like_Ca-bd_dom,pfam_Anaphylatoxin/fibulin,superfamily_Anaphylatoxin_comp_syst,smart_EG-like_dom,smart_Anaphylatoxin/fibulin,smart_EGF-like_Ca-bd_dom,pfscan_Anaphylatoxin/fibulin,pfscan_EG-like_dom - no_errors FBLN2 HGNC ENSG00000163520 tier1 - - 32 0 0.00 26 4 13.33 RBM33 0 genome.wustl.edu 37 7 155457900 155457900 + Silent SNP C C T TCGA-UE-A6QU-01A-12D-A32I-09 TCGA-UE-A6QU-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 8955375b-e2e4-42f6-a96f-0e14ffb8fd4b a37b1846-7265-4f3a-bc22-c1dd8350e95a 7 155457900 155457900 C T SNP RBM33 ENST00000401878 human ensembl 74_37 +1 known silent c.75 p.G25 0.996 NULL smart_RRM_dom - no_errors RBM33 HGNC ENSG00000184863 tier1 - - 47 0 0.00 25 3 10.71 GRM4 0 genome.wustl.edu 37 6 34003463 34003463 + Silent SNP G G C TCGA-UE-A6QU-01A-12D-A32I-09 TCGA-UE-A6QU-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 8955375b-e2e4-42f6-a96f-0e14ffb8fd4b a37b1846-7265-4f3a-bc22-c1dd8350e95a 6 34003463 34003463 G C SNP GRM4 ENST00000374181 human ensembl 74_37 -1 known silent c.2424 p.T808 0.996 pfam_GPCR_3_C,pfscan_GPCR_3_C pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_4,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_GABA_rcpt_B - no_errors GRM4 HGNC ENSG00000124493 tier1 - - 50 0 0.00 58 17 22.37 PTPRT 0 genome.wustl.edu 37 20 41306780 41306780 + Silent SNP A A T TCGA-UE-A6QU-01A-12D-A32I-09 TCGA-UE-A6QU-10B-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 8955375b-e2e4-42f6-a96f-0e14ffb8fd4b a37b1846-7265-4f3a-bc22-c1dd8350e95a 20 41306780 41306780 A T SNP PTPRT ENST00000373198 human ensembl 74_37 -1 known silent c.879 p.A293 0.881 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC ENSG00000196090 tier1 - - 56 0 0.00 85 10 10.53 SNCG 0 genome.wustl.edu 37 10 88719349 88719349 + R SNP C C G TCGA-UE-A6QU-01A-12D-A32I-09 TCGA-UE-A6QU-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 8955375b-e2e4-42f6-a96f-0e14ffb8fd4b a37b1846-7265-4f3a-bc22-c1dd8350e95a 10 88719349 88719349 C G SNP SNCG ENST00000483064 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors SNCG HGNC ENSG00000173267 tier1 - - 33 0 0.00 41 10 19.61 TESK2 0 genome.wustl.edu 37 1 45809610 45809610 + R DEL A A - TCGA-UE-A6QU-01A-12D-A32I-09 TCGA-UE-A6QU-10B-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 8955375b-e2e4-42f6-a96f-0e14ffb8fd4b a37b1846-7265-4f3a-bc22-c1dd8350e95a 1 45809610 45809610 A - DEL TESK2 ENST00000486676 human ensembl 74_37 -1 known rna NULL NULL 0.794 - - - no_errors TESK2 HGNC ENSG00000070759 tier1 54 0 0.00 41 9 18.00 NPM2 0 genome.wustl.edu 37 8 21891682 21891682 + Missense_Mutation SNP G G C TCGA-UE-A6QU-01A-12D-A32I-09 TCGA-UE-A6QU-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 8955375b-e2e4-42f6-a96f-0e14ffb8fd4b a37b1846-7265-4f3a-bc22-c1dd8350e95a 8 21891682 21891682 G C SNP NPM2 ENST00000397940 human ensembl 74_37 +1 known missense c.427 p.E143Q 0.458 NULL superfamily_Nucleoplasmin_core_dom - no_errors NPM2 HGNC ENSG00000158806 tier1 - - 41 0 0.00 39 13 25.00 GSN 0 genome.wustl.edu 37 9 124074856 124074857 + R INS - - A TCGA-UE-A6QU-01A-12D-A32I-09 TCGA-UE-A6QU-10B-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 8955375b-e2e4-42f6-a96f-0e14ffb8fd4b a37b1846-7265-4f3a-bc22-c1dd8350e95a 9 124074856 124074857 - A INS GSN ENST00000485767 human ensembl 74_37 +1 known rna NULL NULL 0.003:0.000 - - - no_errors GSN HGNC ENSG00000148180 tier1 18 0 0.00 15 4 21.05 NPM2 0 genome.wustl.edu 37 8 21891645 21891645 + Missense_Mutation SNP G G C TCGA-UE-A6QU-01A-12D-A32I-09 TCGA-UE-A6QU-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 8955375b-e2e4-42f6-a96f-0e14ffb8fd4b a37b1846-7265-4f3a-bc22-c1dd8350e95a 8 21891645 21891645 G C SNP NPM2 ENST00000397940 human ensembl 74_37 +1 known missense c.390 p.E130D 0.000 NULL superfamily_Nucleoplasmin_core_dom - no_errors NPM2 HGNC ENSG00000158806 tier1 - - 37 0 0.00 37 8 17.39 FBXL22 0 genome.wustl.edu 37 15 63893606 63893606 + Silent SNP G G A TCGA-UE-A6QU-01A-12D-A32I-09 TCGA-UE-A6QU-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 8955375b-e2e4-42f6-a96f-0e14ffb8fd4b a37b1846-7265-4f3a-bc22-c1dd8350e95a 15 63893606 63893606 G A SNP FBXL22 ENST00000360587 human ensembl 74_37 +1 known silent c.465 p.E155 0.000 NULL superfamily_F-box_dom - no_errors FBXL22 HGNC ENSG00000197361 tier1 - - 40 0 0.00 37 8 17.78 CELSR1 0 genome.wustl.edu 37 22 46760514 46760514 + Missense_Mutation SNP G G T TCGA-UE-A6QU-01A-12D-A32I-09 TCGA-UE-A6QU-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 8955375b-e2e4-42f6-a96f-0e14ffb8fd4b a37b1846-7265-4f3a-bc22-c1dd8350e95a 22 46760514 46760514 G T SNP CELSR1 ENST00000262738 human ensembl 74_37 -1 known missense c.8674 p.L2892M 1.000 NULL pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR1 HGNC ENSG00000075275 tier1 - - 53 0 0.00 37 4 9.76 ERCC8 0 genome.wustl.edu 37 5 60199496 60199496 + Missense_Mutation SNP A A T TCGA-UE-A6QU-01A-12D-A32I-09 TCGA-UE-A6QU-10B-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 8955375b-e2e4-42f6-a96f-0e14ffb8fd4b a37b1846-7265-4f3a-bc22-c1dd8350e95a 5 60199496 60199496 A T SNP ERCC8 ENST00000265038 human ensembl 74_37 -1 known missense c.529 p.S177T 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors ERCC8 HGNC ENSG00000049167 tier1 - - 72 0 0.00 49 10 16.95