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 ADAM15 8751 genome.wustl.edu 37 1 155034080 155034080 + RNA SNP C C A TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 1 155034080 155034080 C A SNP ADAM15 ENST00000461234 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors ADAM15 HGNC ARFIP1 27236 genome.wustl.edu 37 4 153831234 153831234 + Nonsense_Mutation SNP C C T TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 4 153831234 153831234 C T SNP ARFIP1 ENST00000353617 human ensembl 70_37 +1 known nonsense c.985 p.Q329* 1.000 pfam_Arfaptin_homology_dom,pfscan_Arfaptin_homology_dom pfam_Arfaptin_homology_dom,pfscan_Arfaptin_homology_dom - no_errors ARFIP1 HGNC ATXN2L 11273 genome.wustl.edu 37 16 28843711 28843711 + Missense_Mutation SNP C C T TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 16 28843711 28843711 C T SNP ATXN2L ENST00000395547 human ensembl 70_37 +1 known missense c.1507 p.P503S 0.903 NULL pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom - no_errors ATXN2L HGNC BAZ2A 11176 genome.wustl.edu 37 12 57009107 57009107 + Missense_Mutation SNP G G A TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 12 57009107 57009107 G A SNP BAZ2A ENST00000551812 human ensembl 70_37 -1 known missense c.427 p.R143W 1.000 NULL pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_integrase-typ,superfamily_Znf_FYVE_PHD,smart_Methyl_CpG_DNA-bd,smart_AT_hook_DNA-bd_motif,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ2A HGNC BRMS1 25855 genome.wustl.edu 37 11 66105270 66105270 + Missense_Mutation SNP T T C TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 11 66105270 66105270 T C SNP BRMS1 ENST00000425825 human ensembl 70_37 -1 known missense c.742 p.T248A 0.004 NULL pfam_Sds3 - no_errors BRMS1 HGNC MYRF 745 genome.wustl.edu 37 11 61546883 61546883 + Missense_Mutation SNP C C T TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 11 61546883 61546883 C T SNP C11orf9 ENST00000278836 human ensembl 70_37 +1 known missense c.2162 p.S721L 0.996 NULL pfam_NDT80_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd - no_errors C11orf9 HGNC NUTM1 256646 genome.wustl.edu 37 15 34640436 34640436 + Missense_Mutation SNP G G C TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 15 34640436 34640436 G C SNP C15orf55 ENST00000333756 human ensembl 70_37 +1 known missense c.283 p.E95Q 0.928 NULL NULL - no_errors C15orf55 HGNC C3orf67 200844 genome.wustl.edu 37 3 58817516 58817516 + Missense_Mutation SNP C C A TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 3 58817516 58817516 C A SNP C3orf67 ENST00000482387 human ensembl 70_37 -1 known missense c.1696 p.A566S 0.000 NULL NULL - no_errors C3orf67 HGNC CD300C 10871 genome.wustl.edu 37 17 72540766 72540766 + Missense_Mutation SNP C C G TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 17 72540766 72540766 C G SNP CD300C ENST00000330793 human ensembl 70_37 -1 known missense c.382 p.E128Q 0.000 smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like - no_errors CD300C HGNC CD46 4179 genome.wustl.edu 37 1 207967032 207967032 + RNA SNP G G T TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 1 207967032 207967032 G T SNP CD46 ENST00000469535 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CD46 HGNC CDH17 1015 genome.wustl.edu 37 8 95164278 95164278 + Silent SNP A A C TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 8 95164278 95164278 A C SNP CDH17 ENST00000027335 human ensembl 70_37 -1 known silent c.1614 p.P538 0.996 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH17 HGNC CERS6-AS1 100861402 genome.wustl.edu 37 2 169629051 169629051 + RNA SNP G G A TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 2 169629051 169629051 G A SNP CERS6-AS1 ENST00000425636 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CERS6-AS1 HGNC CLCN1 1180 genome.wustl.edu 37 7 143029958 143029958 + Missense_Mutation SNP G G A TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 7 143029958 143029958 G A SNP CLCN1 ENST00000343257 human ensembl 70_37 +1 known missense c.1393 p.V465I 0.000 pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated,prints_Cl_channel-1 - no_errors CLCN1 HGNC CLTB 1212 genome.wustl.edu 37 5 175819939 175819939 + Missense_Mutation SNP C C T TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 5 175819939 175819939 C T SNP CLTB ENST00000310418 human ensembl 70_37 -1 known missense c.526 p.E176K 1.000 pfam_Clathrin_L-chain pfam_Clathrin_L-chain,superfamily_RuBisCO_lsu_C - no_errors CLTB HGNC COG2 22796 genome.wustl.edu 37 1 230819156 230819157 + RNA DEL AA AA - TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 1 230819156 230819157 AA - DEL COG2 ENST00000494371 human ensembl 70_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors COG2 HGNC CPB1 1360 genome.wustl.edu 37 3 148577823 148577823 + RNA SNP C C G TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 3 148577823 148577823 C G SNP CPB1 ENST00000476847 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors CPB1 HGNC CRIM1 51232 genome.wustl.edu 37 2 36739535 36739535 + Missense_Mutation SNP G G C TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 2 36739535 36739535 G C SNP CRIM1 ENST00000280527 human ensembl 70_37 +1 known missense c.1778 p.R593T 1.000 superfamily_Prot_inh_I14/15_hirudin/antisn pfam_VWF_C,pfam_Prot_inh_I15_antistasin-like,superfamily_Prot_inh_I14/15_hirudin/antisn,smart_IGFBP-like,smart_VWC_out,smart_VWF_C,pfscan_VWF_C - no_errors CRIM1 HGNC DDB1 1642 genome.wustl.edu 37 11 61070628 61070628 + Splice_Site SNP C C T TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 11 61070628 61070628 C T SNP DDB1 ENST00000301764 human ensembl 70_37 -1 known splice_site c.2833-1 e23-1 1.000 - - - no_errors DDB1 HGNC DENND4C 55667 genome.wustl.edu 37 9 19369939 19369939 + Missense_Mutation SNP A A G TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 9 19369939 19369939 A G SNP DENND4C ENST00000380437 human ensembl 70_37 +1 known missense c.4774 p.I1592V 1.000 NULL pfam_DENN_dom,pfam_dDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND4C HGNC DUOX2 50506 genome.wustl.edu 37 15 45398750 45398750 + Nonsense_Mutation SNP C C A TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 15 45398750 45398750 C A SNP DUOX2 ENST00000389039 human ensembl 70_37 -1 known nonsense c.1921 p.E641* 0.098 NULL pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF-hand,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr,prints_Recoverin - no_errors DUOX2 HGNC EIF2AK1 27102 genome.wustl.edu 37 7 6084230 6084230 + Silent SNP G G T TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 7 6084230 6084230 G T SNP EIF2AK1 ENST00000199389 human ensembl 70_37 -1 known silent c.693 p.T231 0.135 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors EIF2AK1 HGNC ENSG00000211459 0 genome.wustl.edu 37 MT 1216 1216 + RNA SNP C C T TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 MT 1216 1216 C T SNP ENSG00000211459 ENST00000389680 human ensembl 70_37 +1 known rna NULL NULL NULL - - - no_errors J01415.23 Clone_based_ensembl_gene ENSG00000211459 0 genome.wustl.edu 37 MT 1411 1411 + RNA SNP G G A TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 MT 1411 1411 G A SNP ENSG00000211459 ENST00000389680 human ensembl 70_37 +1 known rna NULL NULL NULL - - - no_errors J01415.23 Clone_based_ensembl_gene ENSG00000221244 0 genome.wustl.edu 37 5 1004310 1004310 + RNA SNP G G T TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 5 1004310 1004310 G T SNP ENSG00000221244 ENST00000408317 human ensembl 70_37 +1 novel rna NULL NULL 0.034 - - - no_errors AC116351.2 Clone_based_ensembl_gene ENSG00000267124 0 genome.wustl.edu 37 19 306093 306094 + RNA INS - - A TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 19 306093 306094 - A INS ENSG00000267124 ENST00000591533 human ensembl 70_37 +1 known rna NULL NULL 1.000:0.981 - - - no_errors CTD-3113P16.5 Clone_based_vega_gene FMN2 56776 genome.wustl.edu 37 1 240256097 240256097 + Missense_Mutation SNP G G A TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 1 240256097 240256097 G A SNP FMN2 ENST00000319653 human ensembl 70_37 +1 known missense c.688 p.E230K 0.093 NULL pfam_FH2_actin-bd,pfam_Formin_homology_1,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,pfscan_DEP_dom - no_errors FMN2 HGNC FN3KRP 79672 genome.wustl.edu 37 17 80684800 80684800 + Missense_Mutation SNP C C G TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 17 80684800 80684800 C G SNP FN3KRP ENST00000269373 human ensembl 70_37 +1 known missense c.683 p.S228C 0.011 pfam_Fructo-/Ketosamine-3-kinase,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom,pirsf_Fructo-/Ketosamine-3-kinase pfam_Fructo-/Ketosamine-3-kinase,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom,pirsf_Fructo-/Ketosamine-3-kinase - no_errors FN3KRP HGNC FOXP1 27086 genome.wustl.edu 37 3 71090577 71090577 + Silent SNP T T A TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 3 71090577 71090577 T A SNP FOXP1 ENST00000318789 human ensembl 70_37 -1 known silent c.771 p.T257 0.997 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXP1 HGNC GABRE 2564 genome.wustl.edu 37 X 151123327 151123327 + Missense_Mutation SNP T T A TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 X 151123327 151123327 T A SNP GABRE ENST00000370328 human ensembl 70_37 -1 known missense c.1367 p.Y456F 0.990 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAe_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRE HGNC GAD1 2571 genome.wustl.edu 37 2 171678647 171678647 + Missense_Mutation SNP C C G TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 2 171678647 171678647 C G SNP GAD1 ENST00000358196 human ensembl 70_37 +1 known missense c.133 p.L45V 0.999 NULL pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors GAD1 HGNC GOLGA4 2803 genome.wustl.edu 37 3 37360696 37360697 + RNA INS - - T TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 3 37360696 37360697 - T INS GOLGA4 ENST00000435830 human ensembl 70_37 +1 known rna NULL NULL 0.000:0.005 - - - no_errors GOLGA4 HGNC GOLGB1 2804 genome.wustl.edu 37 3 121417605 121417605 + Missense_Mutation SNP T T C TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 3 121417605 121417605 T C SNP GOLGB1 ENST00000340645 human ensembl 70_37 -1 known missense c.1750 p.R584G 0.177 NULL superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC GTPBP1 9567 genome.wustl.edu 37 22 39112679 39112679 + Missense_Mutation SNP G G A TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 22 39112679 39112679 G A SNP GTPBP1 ENST00000216044 human ensembl 70_37 +1 known missense c.508 p.D170N 1.000 pfam_EF_GTP-bd_dom pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel - no_errors GTPBP1 HGNC HMGN2 3151 genome.wustl.edu 37 1 26801752 26801752 + RNA SNP T T A TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 1 26801752 26801752 T A SNP HMGN2 ENST00000460563 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors HMGN2 HGNC HYOU1 10525 genome.wustl.edu 37 11 118922845 118922845 + Missense_Mutation SNP G G A TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 11 118922845 118922845 G A SNP HYOU1 ENST00000404233 human ensembl 70_37 -1 known missense c.1162 p.R388W 1.000 pfam_Hsp_70_fam,prints_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HYOU1 HGNC IL17C 27189 genome.wustl.edu 37 16 88705500 88705500 + Missense_Mutation SNP G G A TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 16 88705500 88705500 G A SNP IL17C ENST00000244241 human ensembl 70_37 +1 known missense c.118 p.E40K 0.777 pfam_Interleukin-17 pfam_Interleukin-17,prints_Interleukin-17_chordata - no_errors IL17C HGNC INPP5D 3635 genome.wustl.edu 37 2 234112927 234112927 + Missense_Mutation SNP G G A TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 2 234112927 234112927 G A SNP INPP5D ENST00000359570 human ensembl 70_37 +1 known missense c.3095 p.R1032Q 0.963 NULL pfam_Endo/exonuclease/phosphatase,pfam_SH2,superfamily_Endo/exonuclease/phosphatase,smart_SH2,smart_IPPc,pfscan_SH2,prints_SH2 - no_errors INPP5D HGNC ITGA5 3678 genome.wustl.edu 37 12 54797013 54797013 + Missense_Mutation SNP C C A TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 12 54797013 54797013 C A SNP ITGA5 ENST00000293379 human ensembl 70_37 -1 known missense c.1872 p.R624S 0.730 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA5 HGNC KAT6B 23522 genome.wustl.edu 37 10 76790423 76790423 + Silent SNP C C T TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 10 76790423 76790423 C T SNP KAT6B ENST00000287239 human ensembl 70_37 +1 known silent c.5841 p.S1947 1.000 NULL pfam_MOZ_SAS,pfam_Znf_PHD-finger,pfam_Histone_H1/H5,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6B HGNC KCNH4 23415 genome.wustl.edu 37 17 40330492 40330492 + Missense_Mutation SNP G G A TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 17 40330492 40330492 G A SNP KCNH4 ENST00000264661 human ensembl 70_37 -1 known missense c.314 p.S105L 0.846 pfam_PAS_fold_3,pfam_PAS_fold,pfam_PAS_4,smart_PAC,prints_K_chnl_volt-dep_ELK,pfscan_PAS-assoc_C,tigrfam_PAS pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_PAS_fold_3,pfam_PAS_fold,pfam_PAS_4,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH4 HGNC KCTD15 79047 genome.wustl.edu 37 19 34302236 34302236 + Missense_Mutation SNP G G A TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 19 34302236 34302236 G A SNP KCTD15 ENST00000430256 human ensembl 70_37 +1 known missense c.472 p.E158K 1.000 superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD15 HGNC KIAA0319L 79932 genome.wustl.edu 37 1 35906654 35906654 + Nonsense_Mutation SNP G G A TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 1 35906654 35906654 G A SNP KIAA0319L ENST00000325722 human ensembl 70_37 -1 known nonsense c.2956 p.R986* 0.422 NULL pfam_PKD/REJ-like,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_MANSC,pfscan_PKD_dom - no_errors KIAA0319L HGNC KRTAP11-1 337880 genome.wustl.edu 37 21 32253413 32253413 + Missense_Mutation SNP G G A TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 21 32253413 32253413 G A SNP KRTAP11-1 ENST00000332378 human ensembl 70_37 -1 known missense c.431 p.A144V 0.981 pfam_PMG pfam_PMG - no_errors KRTAP11-1 HGNC LIFR 3977 genome.wustl.edu 37 5 38511901 38511901 + Missense_Mutation SNP T T C TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 5 38511901 38511901 T C SNP LIFR ENST00000263409 human ensembl 70_37 -1 known missense c.727 p.N243D 0.886 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors LIFR HGNC LRCH1 23143 genome.wustl.edu 37 13 47315857 47315857 + Silent SNP C C T TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 13 47315857 47315857 C T SNP LRCH1 ENST00000389798 human ensembl 70_37 +1 known silent c.2061 p.L687 0.969 superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_Leu-rich_rpt,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain - no_errors LRCH1 HGNC MDP1 145553 genome.wustl.edu 37 14 24683549 24683549 + Missense_Mutation SNP C C G TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 14 24683549 24683549 C G SNP MDP1 ENST00000288087 human ensembl 70_37 -1 known missense c.370 p.E124Q 1.000 pfam_NIF,superfamily_HAD-like_dom,tigrfam_MDP_1_eu_arc,tigrfam_HAD_SF_ppase_IIIC pfam_NIF,superfamily_HAD-like_dom,tigrfam_MDP_1_eu_arc,tigrfam_HAD_SF_ppase_IIIC - no_errors MDP1 HGNC MDS2 259283 genome.wustl.edu 37 1 23953539 23953540 + RNA DEL GA GA - TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 1 23953539 23953540 GA - DEL MDS2 ENST00000477916 human ensembl 70_37 +1 known rna NULL NULL 0.001:0.001 - - - no_errors MDS2 HGNC MRPL37 51253 genome.wustl.edu 37 1 54683899 54683899 + Missense_Mutation SNP C C G TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 1 54683899 54683899 C G SNP MRPL37 ENST00000360840 human ensembl 70_37 +1 known missense c.1249 p.L417V 0.554 pfam_Ribosomal_L37/S30 pfam_Ribosomal_L37/S30 - no_errors MRPL37 HGNC MUC5B 727897 genome.wustl.edu 37 11 1255050 1255050 + Silent SNP C C T TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 11 1255050 1255050 C T SNP MUC5B ENST00000447027 human ensembl 70_37 +1 known silent c.2358 p.C786 1.000 smart_VWF_C 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 NANOGP1 404635 genome.wustl.edu 37 12 8050926 8050926 + Silent SNP G G A TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 12 8050926 8050926 G A SNP NANOGP1 ENST00000530989 human ensembl 70_37 +1 known silent c.309 p.K103 0.002 superfamily_Homeodomain-like pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors NANOGP1 HGNC NOTCH1 4851 genome.wustl.edu 37 9 139412345 139412345 + Missense_Mutation SNP C C A TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 9 139412345 139412345 C A SNP NOTCH1 ENST00000277541 human ensembl 70_37 -1 known missense c.1300 p.G434C 1.000 pfam_EG-like_dom,pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom - no_errors NOTCH1 HGNC NSUN4 387338 genome.wustl.edu 37 1 46808526 46808526 + RNA SNP G G T TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 1 46808526 46808526 G T SNP NSUN4 ENST00000498008 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors NSUN4 HGNC OR52H1 390067 genome.wustl.edu 37 11 5566215 5566215 + Missense_Mutation SNP C C T TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 11 5566215 5566215 C T SNP OR52H1 ENST00000322653 human ensembl 70_37 -1 known missense c.539 p.R180H 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52H1 HGNC OTOG 340990 genome.wustl.edu 37 11 17574730 17574730 + Silent SNP C C T TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 11 17574730 17574730 C T SNP OTOG ENST00000399391 human ensembl 70_37 +1 known silent c.393 p.F131 1.000 pfscan_EG-like_dom pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_AbfB,pfam_TIL_dom,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom - no_errors OTOG HGNC PCLO 27445 genome.wustl.edu 37 7 82764156 82764156 + Missense_Mutation SNP G G A TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 7 82764156 82764156 G A SNP PCLO ENST00000333891 human ensembl 70_37 -1 known missense c.2710 p.R904C 1.000 NULL pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ - no_errors PCLO HGNC PKD1 5310 genome.wustl.edu 37 16 2152434 2152434 + Missense_Mutation SNP G G T TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 16 2152434 2152434 G T SNP PKD1 ENST00000262304 human ensembl 70_37 -1 known missense c.9149 p.A3050D 1.000 pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_LipOase_LH2,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat - no_errors PKD1 HGNC PLEKHM1P 440456 genome.wustl.edu 37 17 62811023 62811023 + RNA SNP G G A TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 17 62811023 62811023 G A SNP PLEKHM1P ENST00000580919 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors PLEKHM1P HGNC POLR2J4 84820 genome.wustl.edu 37 7 44012259 44012259 + RNA SNP T T A TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 7 44012259 44012259 T A SNP POLR2J4 ENST00000422304 human ensembl 70_37 -1 known rna NULL NULL 0.855 - - - no_errors POLR2J4 HGNC RAP1GAP 5909 genome.wustl.edu 37 1 21991720 21991720 + RNA SNP G G A TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 1 21991720 21991720 G A SNP RAP1GAP ENST00000464457 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RAP1GAP HGNC RELB 5971 genome.wustl.edu 37 19 45537560 45537560 + Silent SNP G G C TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 19 45537560 45537560 G C SNP RELB ENST00000221452 human ensembl 70_37 +1 known silent c.1266 p.L422 1.000 superfamily_Ig_E-set pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NF_Rel_dor - no_errors RELB HGNC RNF213 57674 genome.wustl.edu 37 17 78262101 78262101 + Missense_Mutation SNP G G T TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 17 78262101 78262101 G T SNP RNF213 ENST00000582970 human ensembl 70_37 +1 known missense c.749 p.S250I 0.000 NULL smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC RNF213 57674 genome.wustl.edu 37 17 78317800 78317800 + Silent SNP G G A TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 17 78317800 78317800 G A SNP RNF213 ENST00000582970 human ensembl 70_37 +1 known silent c.6327 p.R2109 0.001 NULL smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC SCN10A 6336 genome.wustl.edu 37 3 38768438 38768438 + Missense_Mutation SNP G G A TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 3 38768438 38768438 G A SNP SCN10A ENST00000449082 human ensembl 70_37 -1 known missense c.2746 p.R916W 0.747 pfam_Na_trans_assoc pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN10A HGNC SCRIB 23513 genome.wustl.edu 37 8 144877630 144877630 + Missense_Mutation SNP G G C TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 8 144877630 144877630 G C SNP SCRIB ENST00000320476 human ensembl 70_37 -1 known missense c.3674 p.S1225C 1.000 NULL pfam_PDZ,pfam_Leu-rich_rpt,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors SCRIB HGNC SEC22A 26984 genome.wustl.edu 37 3 122920797 122920797 + RNA SNP G G T TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 3 122920797 122920797 G T SNP SEC22A ENST00000477063 human ensembl 70_37 +1 known rna NULL NULL 0.448 - - - no_errors SEC22A HGNC SEMA3G 56920 genome.wustl.edu 37 3 52476766 52476766 + Silent SNP C C T TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 3 52476766 52476766 C T SNP SEMA3G ENST00000231721 human ensembl 70_37 -1 known silent c.273 p.R91 0.971 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like - no_errors SEMA3G HGNC SERPINB1 1992 genome.wustl.edu 37 6 2836122 2836122 + Missense_Mutation SNP C C T TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 6 2836122 2836122 C T SNP SERPINB1 ENST00000380739 human ensembl 70_37 -1 known missense c.703 p.D235N 0.997 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB1 HGNC SMC1A 8243 genome.wustl.edu 37 X 53438811 53438811 + Missense_Mutation SNP C C G TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 X 53438811 53438811 C G SNP SMC1A ENST00000322213 human ensembl 70_37 -1 known missense c.1154 p.R385T 1.000 pfam_RecF/RecN/SMC,prints_Tropomyosin pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,smart_SMC_hinge,prints_Tropomyosin - no_errors SMC1A HGNC SMIM4 440957 genome.wustl.edu 37 3 52570872 52570872 + Missense_Mutation SNP G G T TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 3 52570872 52570872 G T SNP SMIM4 ENST00000477703 human ensembl 70_37 +1 known missense c.101 p.G34V 0.997 NULL NULL - no_errors SMIM4 HGNC SMS 6611 genome.wustl.edu 37 X 21990688 21990688 + Nonsense_Mutation SNP C C T TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 X 21990688 21990688 C T SNP SMS ENST00000404933 human ensembl 70_37 +1 known nonsense c.328 p.R110* 0.996 NULL pfam_Spermidine/spermine_synthase,pfscan_Spermidine/spermine_synthase - no_errors SMS HGNC SNORA17 677804 genome.wustl.edu 37 9 139621328 139621329 + RNA INS - - A TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 9 139621328 139621329 - A INS SNORA17 ENST00000391185 human ensembl 70_37 -1 known rna NULL NULL 1.000:0.995 - - - no_errors SNORA17 HGNC SPANXN1 494118 genome.wustl.edu 37 X 144337280 144337280 + Silent SNP C C T TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 X 144337280 144337280 C T SNP SPANXN1 ENST00000370493 human ensembl 70_37 +1 known silent c.165 p.C55 0.001 pfam_SPANX_prot pfam_SPANX_prot - no_errors SPANXN1 HGNC STK11 6794 genome.wustl.edu 37 19 1223012 1223012 + Missense_Mutation SNP G G A TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 19 1223012 1223012 G A SNP STK11 ENST00000326873 human ensembl 70_37 +1 known missense c.949 p.E317K 0.985 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors STK11 HGNC STK11 6794 genome.wustl.edu 37 19 1223135 1223135 + Missense_Mutation SNP G G A TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 19 1223135 1223135 G A SNP STK11 ENST00000326873 human ensembl 70_37 +1 known missense c.1072 p.D358N 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors STK11 HGNC STK11 6794 genome.wustl.edu 37 19 1223138 1223138 + Missense_Mutation SNP G G T TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 19 1223138 1223138 G T SNP STK11 ENST00000326873 human ensembl 70_37 +1 known missense c.1075 p.D359Y 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors STK11 HGNC TCEB3B 51224 genome.wustl.edu 37 18 44559875 44559875 + Missense_Mutation SNP A A T TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 18 44559875 44559875 A T SNP TCEB3B ENST00000332567 human ensembl 70_37 -1 known missense c.1761 p.N587K 0.678 pfam_RNA_pol_II_trans_fac_SIII_A pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub - no_errors TCEB3B HGNC TCF7L2 6934 genome.wustl.edu 37 10 114799868 114799869 + In_Frame_Ins INS - - CAC TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 10 114799868 114799869 - CAC INS TCF7L2 ENST00000355995 human ensembl 70_37 +1 known in_frame_ins c.535_536 p.181in_frame_insP 0.998:0.999 pfam_CTNNB1-bd_N pfam_CTNNB1-bd_N,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors TCF7L2 HGNC TNKS 8658 genome.wustl.edu 37 8 9538266 9538266 + Silent SNP C C T TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 8 9538266 9538266 C T SNP TNKS ENST00000310430 human ensembl 70_37 +1 known silent c.1063 p.L355 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt - no_errors TNKS HGNC TNNI3K 51086 genome.wustl.edu 37 1 75009599 75009599 + Missense_Mutation SNP C C A TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 1 75009599 75009599 C A SNP TNNI3K ENST00000370891 human ensembl 70_37 +1 known missense c.2744 p.S915Y 0.974 NULL pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TNNI3K HGNC TOR1AIP1 26092 genome.wustl.edu 37 1 179851995 179851995 + Missense_Mutation SNP G G A TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 1 179851995 179851995 G A SNP TOR1AIP1 ENST00000435319 human ensembl 70_37 +1 known missense c.358 p.E120K 0.004 NULL pfam_Lamina-ass_polypeptide_CLAP1C - no_errors TOR1AIP1 HGNC UCK1 83549 genome.wustl.edu 37 9 134404408 134404408 + Nonsense_Mutation SNP G G A TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 9 134404408 134404408 G A SNP UCK1 ENST00000372211 human ensembl 70_37 -1 known nonsense c.541 p.R181* 0.507 pfam_PRK/URK,prints_Uridine_kinase pfam_PRK/URK,prints_Uridine_kinase - no_errors UCK1 HGNC VN1R1 57191 genome.wustl.edu 37 19 57967496 57967496 + Missense_Mutation SNP C C G TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 19 57967496 57967496 C G SNP VN1R1 ENST00000321039 human ensembl 70_37 -1 known missense c.359 p.G120A 0.080 pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1 pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1 - no_errors VN1R1 HGNC ZNF496 84838 genome.wustl.edu 37 1 247492545 247492545 + Silent SNP C C T TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 1 247492545 247492545 C T SNP ZNF496 ENST00000366498 human ensembl 70_37 -1 known silent c.336 p.Q112 1.000 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF496 HGNC ZNF829 374899 genome.wustl.edu 37 19 37383008 37383008 + Nonsense_Mutation SNP G G A TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 186538bc-b624-4940-880e-fa08f4055054 fb738c13-efff-4d60-a1a6-fe124e35b680 19 37383008 37383008 G A SNP ZNF829 ENST00000520965 human ensembl 70_37 -1 known nonsense c.928 p.Q310* 0.029 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 ZNF829 HGNC