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 PPP2R5D 0 genome.wustl.edu 37 6 42974819 42974819 + Nonsense_Mutation SNP G G T TCGA-PT-A8TR-01A-11D-A37C-09 TCGA-PT-A8TR-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a50049df-aa30-4674-8d4b-59c52a4e6a72 cc16650a-701b-47d5-83f5-556b0619165a 6 42974819 42974819 G T SNP PPP2R5D ENST00000485511 human ensembl 74_37 +1 known nonsense c.493 p.E165* 0.999 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 - no_errors PPP2R5D HGNC ENSG00000112640 tier1 - - 42 0 0.00 14 3 17.65 DHX35 0 genome.wustl.edu 37 20 37617497 37617497 + Silent SNP C C T TCGA-PT-A8TR-01A-11D-A37C-09 TCGA-PT-A8TR-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a50049df-aa30-4674-8d4b-59c52a4e6a72 cc16650a-701b-47d5-83f5-556b0619165a 20 37617497 37617497 C T SNP DHX35 ENST00000252011 human ensembl 74_37 +1 known silent c.387 p.G129 1.000 pfam_D/R_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_D/R_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX35 HGNC ENSG00000101452 tier1 - - 28 0 0.00 15 3 16.67 ANKFN1 0 genome.wustl.edu 37 17 54400786 54400786 + R SNP C C T TCGA-PT-A8TR-01A-11D-A37C-09 TCGA-PT-A8TR-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a50049df-aa30-4674-8d4b-59c52a4e6a72 cc16650a-701b-47d5-83f5-556b0619165a 17 54400786 54400786 C T SNP ANKFN1 ENST00000572312 human ensembl 74_37 +1 putative rna NULL NULL 0.823 - - - no_errors ANKFN1 HGNC ENSG00000153930 tier1 - - 22 0 0.00 16 3 15.79 C9orf78 0 genome.wustl.edu 37 9 132595850 132595850 + R DEL T T - TCGA-PT-A8TR-01A-11D-A37C-09 TCGA-PT-A8TR-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a50049df-aa30-4674-8d4b-59c52a4e6a72 cc16650a-701b-47d5-83f5-556b0619165a 9 132595850 132595850 T - DEL C9orf78 ENST00000461762 human ensembl 74_37 -1 known rna NULL NULL 0.032 - - - no_errors C9orf78 HGNC ENSG00000136819 tier1 32 0 0.00 29 4 12.12 SLK 0 genome.wustl.edu 37 10 105762924 105762924 + Missense_Mutation SNP A A G TCGA-PT-A8TR-01A-11D-A37C-09 TCGA-PT-A8TR-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a50049df-aa30-4674-8d4b-59c52a4e6a72 cc16650a-701b-47d5-83f5-556b0619165a 10 105762924 105762924 A G SNP SLK ENST00000369755 human ensembl 74_37 +1 known missense c.1988 p.K663R 0.000 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 - - 45 0 0.00 27 3 10.00 NBPF14 0 genome.wustl.edu 37 1 148024804 148024804 + Missense_Mutation SNP C C A TCGA-PT-A8TR-01A-11D-A37C-09 TCGA-PT-A8TR-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a50049df-aa30-4674-8d4b-59c52a4e6a72 cc16650a-701b-47d5-83f5-556b0619165a 1 148024804 148024804 C A SNP NBPF14 ENST00000369219 human ensembl 74_37 -1 known missense c.193 p.D65Y 0.011 NULL pfam_NBPF_dom - no_errors NBPF14 HGNC ENSG00000122497 tier1 - - 26 0 0.00 78 14 15.22 CABS1 0 genome.wustl.edu 37 4 71201610 71201610 + Missense_Mutation SNP T T C TCGA-PT-A8TR-01A-11D-A37C-09 TCGA-PT-A8TR-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a50049df-aa30-4674-8d4b-59c52a4e6a72 cc16650a-701b-47d5-83f5-556b0619165a 4 71201610 71201610 T C SNP CABS1 ENST00000273936 human ensembl 74_37 +1 known missense c.854 p.L285P 0.000 NULL NULL - no_errors CABS1 HGNC ENSG00000145309 tier1 - - 49 0 0.00 14 18 56.25 RRP7B 0 genome.wustl.edu 37 22 42970772 42970772 + R SNP C C T TCGA-PT-A8TR-01A-11D-A37C-09 TCGA-PT-A8TR-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a50049df-aa30-4674-8d4b-59c52a4e6a72 cc16650a-701b-47d5-83f5-556b0619165a 22 42970772 42970772 C T SNP RRP7B ENST00000357802 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RRP7B HGNC ENSG00000182841 tier1 - - 61 0 0.00 21 4 16.00 ENSG00000249149 0 genome.wustl.edu 37 5 72706210 72706210 + R DEL A A - TCGA-PT-A8TR-01A-11D-A37C-09 TCGA-PT-A8TR-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a50049df-aa30-4674-8d4b-59c52a4e6a72 cc16650a-701b-47d5-83f5-556b0619165a 5 72706210 72706210 A - DEL ENSG00000249149 ENST00000505955 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-79P5.3 Clone_based_vega_gene ENSG00000249149 tier1 13 0 0.00 11 2 15.38 PLCB2 0 genome.wustl.edu 37 15 40594507 40594507 + Missense_Mutation SNP G G A TCGA-PT-A8TR-01A-11D-A37C-09 TCGA-PT-A8TR-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a50049df-aa30-4674-8d4b-59c52a4e6a72 cc16650a-701b-47d5-83f5-556b0619165a 15 40594507 40594507 G A SNP PLCB2 ENST00000260402 human ensembl 74_37 -1 known missense c.416 p.T139M 0.155 pirsf_PLC-beta pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLC-beta_C,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB2 HGNC ENSG00000137841 tier1 - - 26 0 0.00 14 12 46.15 DMRT2 0 genome.wustl.edu 37 9 1056545 1056545 + Nonsense_Mutation SNP G G T TCGA-PT-A8TR-01A-11D-A37C-09 TCGA-PT-A8TR-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a50049df-aa30-4674-8d4b-59c52a4e6a72 cc16650a-701b-47d5-83f5-556b0619165a 9 1056545 1056545 G T SNP DMRT2 ENST00000302441 human ensembl 74_37 +1 known nonsense c.958 p.E320* 1.000 NULL pfam_DM_D-bd,superfamily_DM_D-bd,smart_DM_D-bd,pfscan_DM_D-bd - no_errors DMRT2 HGNC ENSG00000173253 tier1 - - 39 0 0.00 34 4 10.53 GPR143 0 genome.wustl.edu 37 X 9711677 9711677 + Missense_Mutation SNP G G A TCGA-PT-A8TR-01A-11D-A37C-09 TCGA-PT-A8TR-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a50049df-aa30-4674-8d4b-59c52a4e6a72 cc16650a-701b-47d5-83f5-556b0619165a X 9711677 9711677 G A SNP GPR143 ENST00000380929 human ensembl 74_37 -1 known missense c.755 p.T252M 1.000 pfam_Ocular_alb1,pfam_GPCR_2_secretin-like pfam_Ocular_alb1,pfam_GPCR_2_secretin-like,prints_Ocular_alb1 - no_errors GPR143 HGNC ENSG00000101850 tier1 - - 47 0 0.00 44 4 8.33 NEXN 0 genome.wustl.edu 37 1 78408542 78408543 + R INS - - T TCGA-PT-A8TR-01A-11D-A37C-09 TCGA-PT-A8TR-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a50049df-aa30-4674-8d4b-59c52a4e6a72 cc16650a-701b-47d5-83f5-556b0619165a 1 78408542 78408543 - T INS NEXN ENST00000480732 human ensembl 74_37 +1 known rna NULL NULL 0.007:0.000 - - - no_errors NEXN HGNC ENSG00000162614 tier1 44 0 0.00 13 3 18.75 ZNF285 0 genome.wustl.edu 37 19 44892206 44892206 + Silent SNP C C A TCGA-PT-A8TR-01A-11D-A37C-09 TCGA-PT-A8TR-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a50049df-aa30-4674-8d4b-59c52a4e6a72 cc16650a-701b-47d5-83f5-556b0619165a 19 44892206 44892206 C A SNP ZNF285 ENST00000330997 human ensembl 74_37 -1 known silent c.201 p.S67 0.000 pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF285 HGNC ENSG00000267508 tier1 rs73557001 - 31 0 0.00 19 6 24.00 RNF212 0 genome.wustl.edu 37 4 1087327 1087328 + In_Frame_Ins INS - - CTGCCCAGGCTGGAGCCAGCC TCGA-PT-A8TR-01A-11D-A37C-09 TCGA-PT-A8TR-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a50049df-aa30-4674-8d4b-59c52a4e6a72 cc16650a-701b-47d5-83f5-556b0619165a 4 1087327 1087328 - CTGCCCAGGCTGGAGCCAGCC INS RNF212 ENST00000333673 human ensembl 74_37 -1 known in_frame_ins c.722_721 p.S241in_frame_insWLAPAWAA 0.085:0.000 NULL pfscan_Znf_RING - no_errors RNF212 HGNC ENSG00000178222 tier1 ENO1 0 genome.wustl.edu 37 1 8925473 8925473 + Missense_Mutation SNP C C T TCGA-PT-A8TR-01A-11D-A37C-09 TCGA-PT-A8TR-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a50049df-aa30-4674-8d4b-59c52a4e6a72 cc16650a-701b-47d5-83f5-556b0619165a 1 8925473 8925473 C T SNP ENO1 ENST00000234590 human ensembl 74_37 -1 known missense c.736 p.V246I 1.000 pfam_Enolase_C,pirsf_Enolase,tigrfam_Enolase pfam_Enolase_C,pfam_Enolase_N,pirsf_Enolase,prints_Enolase,tigrfam_Enolase - no_errors ENO1 HGNC ENSG00000074800 tier1 - - 27 0 0.00 9 3 25.00 POGK 0 genome.wustl.edu 37 1 166810314 166810314 + Nonsense_Mutation SNP G G T TCGA-PT-A8TR-01A-11D-A37C-09 TCGA-PT-A8TR-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a50049df-aa30-4674-8d4b-59c52a4e6a72 cc16650a-701b-47d5-83f5-556b0619165a 1 166810314 166810314 G T SNP POGK ENST00000367875 human ensembl 74_37 +1 known nonsense c.121 p.E41* 0.999 superfamily_Krueppel-associated_box pfam_DDE_SF_endonuclease_CENPB-like,pfam_Brinker_D-bd,pfam_HTH_CenpB_D-bd_dom,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,superfamily_Homeodomain-like,smart_Krueppel-associated_box,smart_HTH_CenpB_D-bd_dom,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors POGK HGNC ENSG00000143157 tier1 - - 31 0 0.00 58 7 10.77 ENSG00000171658 0 genome.wustl.edu 37 3 185693044 185693044 + R DEL T T - TCGA-PT-A8TR-01A-11D-A37C-09 TCGA-PT-A8TR-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a50049df-aa30-4674-8d4b-59c52a4e6a72 cc16650a-701b-47d5-83f5-556b0619165a 3 185693044 185693044 T - DEL ENSG00000171658 ENST00000423298 human ensembl 74_37 +1 known rna NULL NULL 0.985 - - - no_errors RP11-443P15.2 Clone_based_vega_gene ENSG00000171658 tier1 19 0 0.00 18 2 10.00 SPTBN2 0 genome.wustl.edu 37 11 66468674 66468675 + Frame_Shift_Ins INS - - TT TCGA-PT-A8TR-01A-11D-A37C-09 TCGA-PT-A8TR-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a50049df-aa30-4674-8d4b-59c52a4e6a72 cc16650a-701b-47d5-83f5-556b0619165a 11 66468674 66468675 - TT INS SPTBN2 ENST00000309996 human ensembl 74_37 -1 known frame_shift_ins c.2896_2895 p.E965fs 1.000:0.970 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN2 HGNC ENSG00000173898 tier1 23 0 0.00 9 7 43.75 BICD1 0 genome.wustl.edu 37 12 32520618 32520618 + Missense_Mutation SNP G G T TCGA-PT-A8TR-01A-11D-A37C-09 TCGA-PT-A8TR-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a50049df-aa30-4674-8d4b-59c52a4e6a72 cc16650a-701b-47d5-83f5-556b0619165a 12 32520618 32520618 G T SNP BICD1 ENST00000281474 human ensembl 74_37 +1 known missense c.2779 p.A927S 1.000 NULL pfam_Bicaudal-D_microtubule-assoc,superfamily_SPOC_like_C_dom - no_errors BICD1 HGNC ENSG00000151746 tier1 - - 28 0 0.00 34 4 10.53 XPNPEP3 0 genome.wustl.edu 37 22 41278171 41278171 + Frame_Shift_Del DEL A A - TCGA-PT-A8TR-01A-11D-A37C-09 TCGA-PT-A8TR-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a50049df-aa30-4674-8d4b-59c52a4e6a72 cc16650a-701b-47d5-83f5-556b0619165a 22 41278171 41278171 A - DEL XPNPEP3 ENST00000357137 human ensembl 74_37 +1 known frame_shift_del c.579 p.M195fs 0.003 pfam_Aminopep_P_N pfam_Pept_M24_structural-domain,pfam_Aminopep_P_N,superfamily_Pept_M24_structural-domain - no_errors XPNPEP3 HGNC ENSG00000196236 tier1 17 0 0.00 14 3 17.65 GALNT6 0 genome.wustl.edu 37 12 51785401 51785402 + R INS - - AGCCGC TCGA-PT-A8TR-01A-11D-A37C-09 TCGA-PT-A8TR-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a50049df-aa30-4674-8d4b-59c52a4e6a72 cc16650a-701b-47d5-83f5-556b0619165a 12 51785401 51785402 - AGCCGC INS GALNT6 ENST00000603203 human ensembl 74_37 -1 known rna NULL NULL 0.021:0.127 - - - no_errors GALNT6 HGNC ENSG00000139629 tier1 NLRC3 0 genome.wustl.edu 37 16 3604283 3604283 + Missense_Mutation SNP C C T TCGA-PT-A8TR-01A-11D-A37C-09 TCGA-PT-A8TR-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a50049df-aa30-4674-8d4b-59c52a4e6a72 cc16650a-701b-47d5-83f5-556b0619165a 16 3604283 3604283 C T SNP NLRC3 ENST00000448023 human ensembl 74_37 -1 known missense c.2368 p.A790T 1.000 smart_Leu-rich_rpt_RNase_inh_sub-typ superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_CHT_NTPase - no_errors NLRC3 HGNC ENSG00000167984 tier1 - - 52 0 0.00 39 4 9.30 NEB 0 genome.wustl.edu 37 2 152521285 152521285 + Silent SNP G G A TCGA-PT-A8TR-01A-11D-A37C-09 TCGA-PT-A8TR-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a50049df-aa30-4674-8d4b-59c52a4e6a72 cc16650a-701b-47d5-83f5-556b0619165a 2 152521285 152521285 G A SNP NEB ENST00000397345 human ensembl 74_37 -1 known silent c.5331 p.I1777 0.564 pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 tier1 - - 48 0 0.00 32 22 40.74 MAP2K3 0 genome.wustl.edu 37 17 21206524 21206524 + Missense_Mutation SNP C C G TCGA-PT-A8TR-01A-11D-A37C-09 TCGA-PT-A8TR-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a50049df-aa30-4674-8d4b-59c52a4e6a72 cc16650a-701b-47d5-83f5-556b0619165a 17 21206524 21206524 C G SNP MAP2K3 ENST00000342679 human ensembl 74_37 +1 known missense c.546 p.S182R 1.000 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 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 MAP2K3 HGNC ENSG00000034152 tier1 - - 53 0 0.00 52 15 22.39 ENSG00000257769 0 genome.wustl.edu 37 16 15702432 15702432 + R SNP G G A TCGA-PT-A8TR-01A-11D-A37C-09 TCGA-PT-A8TR-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a50049df-aa30-4674-8d4b-59c52a4e6a72 cc16650a-701b-47d5-83f5-556b0619165a 16 15702432 15702432 G A SNP ENSG00000257769 ENST00000549756 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors CTB-193M12.1 Clone_based_vega_gene ENSG00000257769 tier1 - - 9 0 0.00 6 6 50.00 FBLN2 0 genome.wustl.edu 37 3 13613042 13613042 + Missense_Mutation SNP C C T TCGA-PT-A8TR-01A-11D-A37C-09 TCGA-PT-A8TR-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a50049df-aa30-4674-8d4b-59c52a4e6a72 cc16650a-701b-47d5-83f5-556b0619165a 3 13613042 13613042 C T SNP FBLN2 ENST00000404922 human ensembl 74_37 +1 known missense c.1187 p.A396V 0.000 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 - - 35 0 0.00 32 4 11.11 JAKMIP3 0 genome.wustl.edu 37 10 133930998 133930998 + Nonsense_Mutation SNP G G T TCGA-PT-A8TR-01A-11D-A37C-09 TCGA-PT-A8TR-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a50049df-aa30-4674-8d4b-59c52a4e6a72 cc16650a-701b-47d5-83f5-556b0619165a 10 133930998 133930998 G T SNP JAKMIP3 ENST00000298622 human ensembl 74_37 +1 known nonsense c.553 p.E185* 1.000 NULL NULL - no_errors JAKMIP3 HGNC ENSG00000188385 tier1 - - 29 0 0.00 12 3 20.00 RAPGEF4 0 genome.wustl.edu 37 2 173782548 173782548 + Missense_Mutation SNP G G T TCGA-PT-A8TR-01A-11D-A37C-09 TCGA-PT-A8TR-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a50049df-aa30-4674-8d4b-59c52a4e6a72 cc16650a-701b-47d5-83f5-556b0619165a 2 173782548 173782548 G T SNP RAPGEF4 ENST00000397081 human ensembl 74_37 +1 known missense c.463 p.A155S 1.000 superfamily_cNMP-bd-like,smart_cNMP-bd_dom pfam_RasGRF_CDC25,pfam_cNMP-bd_dom,pfam_DEP_dom,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_DEP_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_DEP_dom,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_cAMP/cGMP_kin - no_errors RAPGEF4 HGNC ENSG00000091428 tier1 - - 35 0 0.00 36 4 10.00 TCEB3C 0 genome.wustl.edu 37 18 44554838 44554838 + Missense_Mutation SNP G G A TCGA-PT-A8TR-01A-11D-A37C-09 TCGA-PT-A8TR-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a50049df-aa30-4674-8d4b-59c52a4e6a72 cc16650a-701b-47d5-83f5-556b0619165a 18 44554838 44554838 G A SNP TCEB3C ENST00000330682 human ensembl 74_37 -1 known missense c.1376 p.P459L 0.023 NULL pfam_R_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub - no_errors TCEB3C HGNC ENSG00000183791 tier1 - - 26 0 0.00 31 5 13.89 WLS 0 genome.wustl.edu 37 1 68564403 68564403 + Missense_Mutation SNP C C A TCGA-PT-A8TR-01A-11D-A37C-09 TCGA-PT-A8TR-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a50049df-aa30-4674-8d4b-59c52a4e6a72 cc16650a-701b-47d5-83f5-556b0619165a 1 68564403 68564403 C A SNP WLS ENST00000540432 human ensembl 74_37 -1 known missense c.1550 p.C517F 0.001 NULL NULL - no_errors WLS HGNC ENSG00000116729 tier1 - - 26 0 0.00 0 17 100.00 BOD1L1 0 genome.wustl.edu 37 4 13616072 13616072 + Missense_Mutation SNP G G T TCGA-PT-A8TR-01A-11D-A37C-09 TCGA-PT-A8TR-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a50049df-aa30-4674-8d4b-59c52a4e6a72 cc16650a-701b-47d5-83f5-556b0619165a 4 13616072 13616072 G T SNP BOD1L1 ENST00000040738 human ensembl 74_37 -1 known missense c.922 p.Q308K 0.023 NULL NULL - no_errors BOD1L1 HGNC ENSG00000038219 tier1 - - 43 0 0.00 45 4 8.00 ENSG00000215527 0 genome.wustl.edu 37 18 12658668 12658668 + R SNP T T C TCGA-PT-A8TR-01A-11D-A37C-09 TCGA-PT-A8TR-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a50049df-aa30-4674-8d4b-59c52a4e6a72 cc16650a-701b-47d5-83f5-556b0619165a 18 12658668 12658668 T C SNP ENSG00000215527 ENST00000585853 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors AP005482.1 Clone_based_vega_gene ENSG00000215527 tier1 - - 31 0 0.00 35 4 10.26 CCDC24 0 genome.wustl.edu 37 1 44458252 44458252 + Frame_Shift_Del DEL G G - TCGA-PT-A8TR-01A-11D-A37C-09 TCGA-PT-A8TR-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a50049df-aa30-4674-8d4b-59c52a4e6a72 cc16650a-701b-47d5-83f5-556b0619165a 1 44458252 44458252 G - DEL CCDC24 ENST00000372318 human ensembl 74_37 +1 known frame_shift_del c.360 p.E121fs 0.998 NULL NULL - no_errors CCDC24 HGNC ENSG00000159214 tier1 52 0 0.00 16 2 11.11 KCNB2 0 genome.wustl.edu 37 8 73480540 73480540 + Missense_Mutation SNP G G T TCGA-PT-A8TR-01A-11D-A37C-09 TCGA-PT-A8TR-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a50049df-aa30-4674-8d4b-59c52a4e6a72 cc16650a-701b-47d5-83f5-556b0619165a 8 73480540 73480540 G T SNP KCNB2 ENST00000523207 human ensembl 74_37 +1 known missense c.571 p.A191S 1.000 prints_K_chnl pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.2,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8 - no_errors KCNB2 HGNC ENSG00000182674 tier1 - - 31 0 0.00 37 4 9.76 KLHDC3 0 genome.wustl.edu 37 6 42986655 42986655 + Missense_Mutation SNP G G T TCGA-PT-A8TR-01A-11D-A37C-09 TCGA-PT-A8TR-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a50049df-aa30-4674-8d4b-59c52a4e6a72 cc16650a-701b-47d5-83f5-556b0619165a 6 42986655 42986655 G T SNP KLHDC3 ENST00000326974 human ensembl 74_37 +1 known missense c.875 p.R292L 0.999 NULL pfam_Kelch_2,pfam_Kelch_1 - no_errors KLHDC3 HGNC ENSG00000124702 tier1 - - 44 0 0.00 26 4 13.33 ARID1B 0 genome.wustl.edu 37 6 157520041 157520041 + Silent SNP G G A TCGA-PT-A8TR-01A-11D-A37C-09 TCGA-PT-A8TR-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a50049df-aa30-4674-8d4b-59c52a4e6a72 cc16650a-701b-47d5-83f5-556b0619165a 6 157520041 157520041 G A SNP ARID1B ENST00000367148 human ensembl 74_37 +1 known silent c.4230 p.P1410 1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_D-bd,superfamily_ARID/BRIGHT_D-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_D-bd,pfscan_ARID/BRIGHT_D-bd - no_errors ARID1B HGNC ENSG00000049618 tier1 - - 81 0 0.00 57 40 41.24 C5orf27 0 genome.wustl.edu 37 5 95194703 95194703 + Silent SNP C C T TCGA-PT-A8TR-01A-11D-A37C-09 TCGA-PT-A8TR-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a50049df-aa30-4674-8d4b-59c52a4e6a72 cc16650a-701b-47d5-83f5-556b0619165a 5 95194703 95194703 C T SNP C5orf27 ENST00000357880 human ensembl 74_37 +1 known silent c.270 p.S90 0.229 NULL NULL - no_errors C5orf27 HGNC ENSG00000236882 tier1 - - 22 0 0.00 24 4 14.29 OS9 0 genome.wustl.edu 37 12 58109574 58109574 + Missense_Mutation SNP G G C TCGA-PT-A8TR-01A-11D-A37C-09 TCGA-PT-A8TR-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a50049df-aa30-4674-8d4b-59c52a4e6a72 cc16650a-701b-47d5-83f5-556b0619165a 12 58109574 58109574 G C SNP OS9 ENST00000315970 human ensembl 74_37 +1 known missense c.611 p.G204A 1.000 superfamily_Man6P_isomerase_rcpt-bd_dom pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom - no_errors OS9 HGNC ENSG00000135506 tier1 - - 22 0 0.00 29 9 23.68 MUC5B 0 genome.wustl.edu 37 11 1266537 1266537 + Silent SNP G G T TCGA-PT-A8TR-01A-11D-A37C-09 TCGA-PT-A8TR-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a50049df-aa30-4674-8d4b-59c52a4e6a72 cc16650a-701b-47d5-83f5-556b0619165a 11 1266537 1266537 G T SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known silent c.8436 p.L2812 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 tier1 rs199659189 - 30 0 0.00 39 7 15.22 PARP1 0 genome.wustl.edu 37 1 226549885 226549886 + R INS - - T TCGA-PT-A8TR-01A-11D-A37C-09 TCGA-PT-A8TR-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a50049df-aa30-4674-8d4b-59c52a4e6a72 cc16650a-701b-47d5-83f5-556b0619165a 1 226549885 226549886 - T INS PARP1 ENST00000491816 human ensembl 74_37 -1 known rna NULL NULL 0.002:0.004 - - - no_errors PARP1 HGNC ENSG00000143799 tier1 14 0 0.00 27 4 12.90 CABP1 0 genome.wustl.edu 37 12 121094036 121094036 + Silent SNP C C T TCGA-PT-A8TR-01A-11D-A37C-09 TCGA-PT-A8TR-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a50049df-aa30-4674-8d4b-59c52a4e6a72 cc16650a-701b-47d5-83f5-556b0619165a 12 121094036 121094036 C T SNP CABP1 ENST00000288616 human ensembl 74_37 +1 known silent c.186 p.C62 1.000 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CABP1 HGNC ENSG00000157782 tier1 - - 33 0 0.00 48 12 19.67 ITGAM 0 genome.wustl.edu 37 16 31339499 31339499 + Nonsense_Mutation SNP G G T TCGA-PT-A8TR-01A-11D-A37C-09 TCGA-PT-A8TR-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a50049df-aa30-4674-8d4b-59c52a4e6a72 cc16650a-701b-47d5-83f5-556b0619165a 16 31339499 31339499 G T SNP ITGAM ENST00000544665 human ensembl 74_37 +1 known nonsense c.2743 p.E915* 0.000 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAM HGNC ENSG00000169896 tier1 - - 49 0 0.00 42 4 8.70 ENSG00000261759 0 genome.wustl.edu 37 16 19132369 19132369 + R SNP G G T TCGA-PT-A8TR-01A-11D-A37C-09 TCGA-PT-A8TR-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a50049df-aa30-4674-8d4b-59c52a4e6a72 cc16650a-701b-47d5-83f5-556b0619165a 16 19132369 19132369 G T SNP ENSG00000261759 ENST00000567236 human ensembl 74_37 -1 known rna NULL NULL 0.783 - - - no_errors RP11-626G11.3 Clone_based_vega_gene ENSG00000261759 tier1 - - 32 0 0.00 33 5 13.16 A25 0 genome.wustl.edu 37 12 112491457 112491457 + Missense_Mutation SNP G G T TCGA-PT-A8TR-01A-11D-A37C-09 TCGA-PT-A8TR-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a50049df-aa30-4674-8d4b-59c52a4e6a72 cc16650a-701b-47d5-83f5-556b0619165a 12 112491457 112491457 G T SNP A25 ENST00000261745 human ensembl 74_37 -1 known missense c.1633 p.L545I 1.000 pfam_N-acetylTrfase_B_cplx_non-cat pfam_N-acetylTrfase_B_cplx_non-cat,pfscan_TPR-contain_dom - no_errors A25 HGNC ENSG00000111300 tier1 - - 13 0 0.00 15 9 37.50 ACOX3 0 genome.wustl.edu 37 4 8396467 8396467 + Silent SNP T T C TCGA-PT-A8TR-01A-11D-A37C-09 TCGA-PT-A8TR-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a50049df-aa30-4674-8d4b-59c52a4e6a72 cc16650a-701b-47d5-83f5-556b0619165a 4 8396467 8396467 T C SNP ACOX3 ENST00000356406 human ensembl 74_37 -1 known silent c.1059 p.Q353 1.000 pfam_AcylCo_DH/oxidase_C,superfamily_AcylCo_DH/oxidase_C,pirsf_Acyl-CoA_oxidase pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_AcylCo_DH/oxidase_C,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase_NM_dom,pirsf_Acyl-CoA_oxidase - no_errors ACOX3 HGNC ENSG00000087008 tier1 - - 9 0 0.00 8 6 42.86 SH2D2A 0 genome.wustl.edu 37 1 156777009 156777009 + Silent SNP G G A TCGA-PT-A8TR-01A-11D-A37C-09 TCGA-PT-A8TR-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a50049df-aa30-4674-8d4b-59c52a4e6a72 cc16650a-701b-47d5-83f5-556b0619165a 1 156777009 156777009 G A SNP SH2D2A ENST00000392306 human ensembl 74_37 -1 known silent c.1161 p.D387 0.938 NULL pfam_SH2,smart_SH2,pfscan_SH2 - no_errors SH2D2A HGNC ENSG00000027869 tier1 - - 26 0 0.00 43 15 25.86 CNTN5 0 genome.wustl.edu 37 11 100170065 100170065 + Missense_Mutation SNP G G A TCGA-PT-A8TR-01A-11D-A37C-09 TCGA-PT-A8TR-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a50049df-aa30-4674-8d4b-59c52a4e6a72 cc16650a-701b-47d5-83f5-556b0619165a 11 100170065 100170065 G A SNP CNTN5 ENST00000279463 human ensembl 74_37 +1 known missense c.2557 p.V853I 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN5 HGNC ENSG00000149972 tier1 rs202207695 - 39 0 0.00 22 17 43.59 NLRP10 0 genome.wustl.edu 37 11 7981533 7981533 + Silent SNP C C T TCGA-PT-A8TR-01A-11D-A37C-09 TCGA-PT-A8TR-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a50049df-aa30-4674-8d4b-59c52a4e6a72 cc16650a-701b-47d5-83f5-556b0619165a 11 7981533 7981533 C T SNP NLRP10 ENST00000328600 human ensembl 74_37 -1 known silent c.1626 p.A542 0.271 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,pfscan_CHT_NTPase,pfscan_DAPIN - no_errors NLRP10 HGNC ENSG00000182261 tier1 - - 27 0 0.00 20 16 44.44 BCKDHA 0 genome.wustl.edu 37 19 41916828 41916828 + Silent SNP C C T TCGA-PT-A8TR-01A-11D-A37C-09 TCGA-PT-A8TR-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a50049df-aa30-4674-8d4b-59c52a4e6a72 cc16650a-701b-47d5-83f5-556b0619165a 19 41916828 41916828 C T SNP BCKDHA ENST00000595085 human ensembl 74_37 +1 known silent c.391 p.L131 1.000 NULL pfam_DH_E1,pfam_Transketolase_N - no_errors BCKDHA HGNC ENSG00000248098 tier1 - - 60 0 0.00 36 4 10.00 ASZ1 0 genome.wustl.edu 37 7 117020090 117020090 + Silent SNP G G T TCGA-PT-A8TR-01A-11D-A37C-09 TCGA-PT-A8TR-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a50049df-aa30-4674-8d4b-59c52a4e6a72 cc16650a-701b-47d5-83f5-556b0619165a 7 117020090 117020090 G T SNP ASZ1 ENST00000284629 human ensembl 74_37 -1 known silent c.957 p.T319 0.003 pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed pfam_Ankyrin_rpt,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ASZ1 HGNC ENSG00000154438 tier1 - - 32 0 0.00 21 3 12.50 CDH13 0 genome.wustl.edu 37 16 83813649 83813649 + Silent SNP C C T TCGA-PT-A8TR-01A-11D-A37C-09 TCGA-PT-A8TR-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a50049df-aa30-4674-8d4b-59c52a4e6a72 cc16650a-701b-47d5-83f5-556b0619165a 16 83813649 83813649 C T SNP CDH13 ENST00000566620 human ensembl 74_37 +1 known silent c.1758 p.Y586 0.998 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH13 HGNC ENSG00000140945 tier1 - - 33 0 0.00 31 4 11.43 DH11 0 genome.wustl.edu 37 7 21757493 21757493 + Silent SNP A A C TCGA-PT-A8TR-01A-11D-A37C-09 TCGA-PT-A8TR-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a50049df-aa30-4674-8d4b-59c52a4e6a72 cc16650a-701b-47d5-83f5-556b0619165a 7 21757493 21757493 A C SNP DH11 ENST00000328843 human ensembl 74_37 +1 known silent c.7105 p.R2369 1.000 NULL 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 DH11 HGNC ENSG00000105877 tier1 - - 45 0 0.00 34 6 15.00 TTN-AS1 0 genome.wustl.edu 37 2 179510603 179510603 + R SNP A A G TCGA-PT-A8TR-01A-11D-A37C-09 TCGA-PT-A8TR-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a50049df-aa30-4674-8d4b-59c52a4e6a72 cc16650a-701b-47d5-83f5-556b0619165a 2 179510603 179510603 A G SNP TTN-AS1 ENST00000418062 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TTN-AS1 HGNC ENSG00000237298 tier1 - - 42 0 0.00 11 24 68.57 MALAT1 0 genome.wustl.edu 37 11 65271779 65271780 + R INS - - T TCGA-PT-A8TR-01A-11D-A37C-09 TCGA-PT-A8TR-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a50049df-aa30-4674-8d4b-59c52a4e6a72 cc16650a-701b-47d5-83f5-556b0619165a 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 30 0 0.00 30 5 14.29 GYS2 0 genome.wustl.edu 37 12 21716178 21716178 + Nonsense_Mutation SNP G G A TCGA-PT-A8TR-01A-11D-A37C-09 TCGA-PT-A8TR-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a50049df-aa30-4674-8d4b-59c52a4e6a72 cc16650a-701b-47d5-83f5-556b0619165a 12 21716178 21716178 G A SNP GYS2 ENST00000261195 human ensembl 74_37 -1 known nonsense c.925 p.R309* 1.000 pfam_Glycogen_synth pfam_Glycogen_synth,pfam_Glyco_trans_1 - no_errors GYS2 HGNC ENSG00000111713 tier1 - - 33 0 0.00 28 14 33.33 ABCC2 0 genome.wustl.edu 37 10 101590148 101590148 + Missense_Mutation SNP C C A TCGA-PT-A8TR-01A-11D-A37C-09 TCGA-PT-A8TR-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a50049df-aa30-4674-8d4b-59c52a4e6a72 cc16650a-701b-47d5-83f5-556b0619165a 10 101590148 101590148 C A SNP ABCC2 ENST00000370449 human ensembl 74_37 +1 known missense c.2705 p.T902N 1.000 tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc - no_errors ABCC2 HGNC ENSG00000023839 tier1 - - 58 0 0.00 37 4 9.76 ENSG00000212939 0 genome.wustl.edu 37 22 49947411 49947411 + R SNP A A T TCGA-PT-A8TR-01A-11D-A37C-09 TCGA-PT-A8TR-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a50049df-aa30-4674-8d4b-59c52a4e6a72 cc16650a-701b-47d5-83f5-556b0619165a 22 49947411 49947411 A T SNP ENSG00000212939 ENST00000391625 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP1-29C18.10 Clone_based_vega_gene ENSG00000212939 tier1 - - 31 0 0.00 1 13 92.86 CBX8 0 genome.wustl.edu 37 17 77770335 77770335 + Missense_Mutation SNP C C T TCGA-PT-A8TR-01A-11D-A37C-09 TCGA-PT-A8TR-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a50049df-aa30-4674-8d4b-59c52a4e6a72 cc16650a-701b-47d5-83f5-556b0619165a 17 77770335 77770335 C T SNP CBX8 ENST00000269385 human ensembl 74_37 -1 known missense c.74 p.R25H 1.000 pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow - no_errors CBX8 HGNC ENSG00000141570 tier1 - - 29 0 0.00 28 5 15.15 PLD1 0 genome.wustl.edu 37 3 171452702 171452702 + Missense_Mutation SNP G G A TCGA-PT-A8TR-01A-11D-A37C-09 TCGA-PT-A8TR-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a50049df-aa30-4674-8d4b-59c52a4e6a72 cc16650a-701b-47d5-83f5-556b0619165a 3 171452702 171452702 G A SNP PLD1 ENST00000351298 human ensembl 74_37 -1 known missense c.493 p.R165C 0.024 pfam_Phox,superfamily_Phox,smart_Phox,pirsf_PLipase_D_euk,pfscan_Phox pfam_Phox,pfam_PLipase_D/transphosphatidylase,pfam_Pleckstrin_homology,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase - no_errors PLD1 HGNC ENSG00000075651 tier1 - - 20 0 0.00 10 5 33.33 BCL6B 0 genome.wustl.edu 37 17 6928000 6928000 + Missense_Mutation SNP C C A TCGA-PT-A8TR-01A-11D-A37C-09 TCGA-PT-A8TR-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a50049df-aa30-4674-8d4b-59c52a4e6a72 cc16650a-701b-47d5-83f5-556b0619165a 17 6928000 6928000 C A SNP BCL6B ENST00000293805 human ensembl 74_37 +1 known missense c.682 p.P228T 0.457 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors BCL6B HGNC ENSG00000161940 tier1 - - 46 0 0.00 39 4 9.30 TPTE2P2 0 genome.wustl.edu 37 13 52793775 52793776 + R INS - - A TCGA-PT-A8TR-01A-11D-A37C-09 TCGA-PT-A8TR-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a50049df-aa30-4674-8d4b-59c52a4e6a72 cc16650a-701b-47d5-83f5-556b0619165a 13 52793775 52793776 - A INS TPTE2P2 ENST00000606973 human ensembl 74_37 -1 known rna NULL NULL 0.002:0.003 - - - no_errors TPTE2P2 HGNC ENSG00000272281 tier1 15 0 0.00 23 3 11.54 CDK5RAP2 0 genome.wustl.edu 37 9 123215781 123215781 + Missense_Mutation SNP G G A TCGA-PT-A8TR-01A-11D-A37C-09 TCGA-PT-A8TR-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a50049df-aa30-4674-8d4b-59c52a4e6a72 cc16650a-701b-47d5-83f5-556b0619165a 9 123215781 123215781 G A SNP CDK5RAP2 ENST00000349780 human ensembl 74_37 -1 known missense c.2746 p.P916S 0.003 NULL pfam_Spindle_assoc - no_errors CDK5RAP2 HGNC ENSG00000136861 tier1 - - 38 0 0.00 35 4 10.26 PRDM13 0 genome.wustl.edu 37 6 100062378 100062378 + Missense_Mutation SNP C C T TCGA-PT-A8TR-01A-11D-A37C-09 TCGA-PT-A8TR-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a50049df-aa30-4674-8d4b-59c52a4e6a72 cc16650a-701b-47d5-83f5-556b0619165a 6 100062378 100062378 C T SNP PRDM13 ENST00000369215 human ensembl 74_37 +1 known missense c.1867 p.H623Y 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM13 HGNC ENSG00000112238 tier1 - - 19 0 0.00 14 4 22.22 COL4A2-AS1 0 genome.wustl.edu 37 13 111160095 111160099 + Splice_Site DEL GAGTC GAGTC - TCGA-PT-A8TR-01A-11D-A37C-09 TCGA-PT-A8TR-10A-01D-A37F-09 GAGTC GAGTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a50049df-aa30-4674-8d4b-59c52a4e6a72 cc16650a-701b-47d5-83f5-556b0619165a 13 111160095 111160099 GAGTC - DEL COL4A2-AS1 ENST00000417970 human ensembl 74_37 -1 known splice_site_del c.NULL NULL 0.000:0.001:0.009:0.008:0.007 - - - no_errors COL4A2-AS1 HGNC ENSG00000232814 tier1 RDX 0 genome.wustl.edu 37 11 110070369 110070369 + Missense_Mutation SNP G G A TCGA-PT-A8TR-01A-11D-A37C-09 TCGA-PT-A8TR-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a50049df-aa30-4674-8d4b-59c52a4e6a72 cc16650a-701b-47d5-83f5-556b0619165a 11 110070369 110070369 G A SNP RDX ENST00000530749 human ensembl 74_37 -1 known missense c.1783 p.R595C 1.000 NULL pirsf_ERM,pfam_ERM_C_dom,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin_tail,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Band_41_domain,prints_Ez/rad/moesin_like,prints_Band_41_fam,pfscan_FERM_domain - no_errors RDX HGNC ENSG00000137710 tier1 - - 43 0 0.00 22 3 12.00 TNS3 0 genome.wustl.edu 37 7 47343111 47343111 + Missense_Mutation SNP C C A TCGA-PT-A8TR-01A-11D-A37C-09 TCGA-PT-A8TR-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a50049df-aa30-4674-8d4b-59c52a4e6a72 cc16650a-701b-47d5-83f5-556b0619165a 7 47343111 47343111 C A SNP TNS3 ENST00000311160 human ensembl 74_37 -1 known missense c.2894 p.R965L 0.977 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS3 HGNC ENSG00000136205 tier1 - - 25 0 0.00 9 6 40.00 ABR 0 genome.wustl.edu 37 17 961175 961175 + R SNP C C G TCGA-PT-A8TR-01A-11D-A37C-09 TCGA-PT-A8TR-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a50049df-aa30-4674-8d4b-59c52a4e6a72 cc16650a-701b-47d5-83f5-556b0619165a 17 961175 961175 C G SNP ABR ENST00000575770 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ABR HGNC ENSG00000159842 tier1 - - 26 0 0.00 23 7 23.33 FHL3 0 genome.wustl.edu 37 1 38463098 38463098 + Silent SNP G G A TCGA-PT-A8TR-01A-11D-A37C-09 TCGA-PT-A8TR-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a50049df-aa30-4674-8d4b-59c52a4e6a72 cc16650a-701b-47d5-83f5-556b0619165a 1 38463098 38463098 G A SNP FHL3 ENST00000373016 human ensembl 74_37 -1 known silent c.822 p.G274 0.992 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors FHL3 HGNC ENSG00000183386 tier1 - - 39 0 0.00 20 4 16.67 ENSG00000257931 0 genome.wustl.edu 37 14 19969313 19969313 + R SNP T T A TCGA-PT-A8TR-01A-11D-A37C-09 TCGA-PT-A8TR-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a50049df-aa30-4674-8d4b-59c52a4e6a72 cc16650a-701b-47d5-83f5-556b0619165a 14 19969313 19969313 T A SNP ENSG00000257931 ENST00000547399 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors CTD-2311B13.7 Clone_based_vega_gene ENSG00000257931 tier1 rs201001641 - 13 0 0.00 8 4 33.33