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 title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF ACADL 0 genome.wustl.edu 37 2 211053715 211053715 + Frame_Shift_Del DEL C C - TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 2 211053715 211053715 C - DEL ACADL ENST00000233710 human ensembl 74_37 -1 known frame_shift_del c.1263 p.I422fs 1.000 pfam_AcylCo_DH/oxidase_C,superfamily_AcylCo_DH/oxidase_C pfam_AcylCo_DH/oxidase_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C - no_errors ACADL HGNC ENSG00000115361 tier1 48 0 0.00 15 2 11.76 ACKR2 0 genome.wustl.edu 37 3 42906441 42906441 + Silent SNP T T C TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 3 42906441 42906441 T C SNP ACKR2 ENST00000273145 human ensembl 74_37 +1 known silent c.447 p.A149 0.800 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR4 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_ATII_rcpt,prints_Chemokine_CXCR4 - no_errors ACKR2 HGNC ENSG00000144648 41 0 0.00 13 2 13.33 ADAR 0 genome.wustl.edu 37 1 154574789 154574789 + Missense_Mutation SNP T T C TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 1 154574789 154574789 T C SNP ADAR ENST00000292205 human ensembl 74_37 -1 known missense c.458 p.H153R 0.000 NULL pfam_A_deamin,pfam_dsRNA_A_deaminase,pfam_dsRNA-bd_dom,smart_dsRNA_A_deaminase,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_dsRNA_A_deaminase,pfscan_A_deamin - no_errors ADAR HGNC ENSG00000160710 tier1 - - 61 0 0.00 41 10 19.61 AGBL4 0 genome.wustl.edu 37 1 49511430 49511430 + Silent SNP C C T TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 1 49511430 49511430 C T SNP AGBL4 ENST00000371839 human ensembl 74_37 -1 known silent c.420 p.P140 0.258 NULL pfam_Peptidase_M14,smart_Peptidase_M14 - no_errors AGBL4 HGNC ENSG00000186094 43 0 0.00 47 3 6.00 ALPP 0 genome.wustl.edu 37 2 233245015 233245015 + Nonsense_Mutation SNP G G A TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 2 233245015 233245015 G A SNP ALPP ENST00000392027 human ensembl 74_37 +1 known nonsense c.777 p.W259* 1.000 pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase - no_errors ALPP HGNC ENSG00000163283 tier1 - - 148 0 0.00 90 10 10.00 AMY1A 0 genome.wustl.edu 37 1 104203065 104203065 + Missense_Mutation SNP G G T TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 1 104203065 104203065 G T SNP AMY1A ENST00000370083 human ensembl 74_37 +1 known missense c.962 p.G321V 0.971 pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase - no_errors AMY1A HGNC ENSG00000237763 tier1 - - 215 0 0.00 178 23 11.44 AMY1A 0 genome.wustl.edu 37 1 104203066 104203066 + Silent SNP C C T TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 1 104203066 104203066 C T SNP AMY1A ENST00000370083 human ensembl 74_37 +1 known silent c.963 p.G321 0.311 pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase - no_errors AMY1A HGNC ENSG00000237763 tier1 rs138704923 - 213 0 0.00 179 23 11.39 ANKRD26 0 genome.wustl.edu 37 10 27317825 27317825 + Missense_Mutation SNP C C A TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 10 27317825 27317825 C A SNP ANKRD26 ENST00000436985 human ensembl 74_37 -1 known missense c.3976 p.D1326Y 0.000 NULL pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Polyketide_synth_docking,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD26 HGNC ENSG00000107890 tier1 - - 29 0 0.00 23 4 14.81 ASAP2 0 genome.wustl.edu 37 2 9517087 9517087 + Silent SNP C C T TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 2 9517087 9517087 C T SNP ASAP2 ENST00000281419 human ensembl 74_37 +1 known silent c.1797 p.T599 0.298 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP - no_errors ASAP2 HGNC ENSG00000151693 tier1 - - 49 0 0.00 30 15 33.33 ASB2 0 genome.wustl.edu 37 14 94401050 94401050 + Silent SNP C C T TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 14 94401050 94401050 C T SNP ASB2 ENST00000315988 human ensembl 74_37 -1 known silent c.1716 p.P572 0.007 pfam_SOCS_C,smart_SOCS_C,pfscan_SOCS_C pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt - no_errors ASB2 HGNC ENSG00000100628 51 0 0.00 55 3 5.17 ATP13A3 0 genome.wustl.edu 37 3 194147972 194147972 + Missense_Mutation SNP T T C TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 3 194147972 194147972 T C SNP ATP13A3 ENST00000256031 human ensembl 74_37 -1 known missense c.2957 p.N986S 1.000 tigrfam_ATPase_P-typ_Cation_typ_V pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP13A3 HGNC ENSG00000133657 tier1 - - 43 0 0.00 29 5 14.71 B3GAT1 0 genome.wustl.edu 37 11 134253770 134253770 + Missense_Mutation SNP G G A TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 11 134253770 134253770 G A SNP B3GAT1 ENST00000537389 human ensembl 74_37 -1 known missense c.464 p.T155M 1.000 pfam_Glyco_trans_43 pfam_Glyco_trans_43 - no_errors B3GAT1 HGNC ENSG00000109956 tier1 - - 23 0 0.00 66 22 25.00 BCDIN3D 0 genome.wustl.edu 37 12 50232768 50232768 + Missense_Mutation SNP G G T TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 12 50232768 50232768 G T SNP BCDIN3D ENST00000333924 human ensembl 74_37 -1 known missense c.265 p.L89I 0.995 NULL pfam_Bin3 - no_errors BCDIN3D HGNC ENSG00000186666 tier1 - - 31 0 0.00 16 5 23.81 BPTF 0 genome.wustl.edu 37 17 65850067 65850067 + Missense_Mutation SNP C C G TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 17 65850067 65850067 C G SNP BPTF ENST00000321892 human ensembl 74_37 +1 known missense c.625 p.P209A 0.744 NULL pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BPTF HGNC ENSG00000171634 71 0 0.00 56 4 6.67 BRD9 0 genome.wustl.edu 37 5 884124 884124 + Missense_Mutation SNP C C T TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 5 884124 884124 C T SNP BRD9 ENST00000467963 human ensembl 74_37 -1 known missense c.895 p.V299M 1.000 pfam_DUF3512 pfam_DUF3512,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD9 HGNC ENSG00000028310 tier1 - - 43 0 0.00 26 18 40.91 C4orf3 0 genome.wustl.edu 37 4 120225419 120225419 + Missense_Mutation SNP T T C TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 4 120225419 120225419 T C SNP C4orf3 ENST00000399075 human ensembl 74_37 -1 known missense c.182 p.N61S 0.025 NULL NULL - no_errors C4orf3 HGNC ENSG00000164096 tier1 - - 105 0 0.00 91 11 10.78 CABP4 0 genome.wustl.edu 37 11 67225884 67225884 + Missense_Mutation SNP C C T TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 11 67225884 67225884 C T SNP CABP4 ENST00000325656 human ensembl 74_37 +1 known missense c.694 p.R232W 1.000 pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CABP4 HGNC ENSG00000175544 tier1 - - 31 0 0.00 25 9 26.47 CALD1 0 genome.wustl.edu 37 7 134625935 134625935 + Silent SNP G G A TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 7 134625935 134625935 G A SNP CALD1 ENST00000361388 human ensembl 74_37 +1 known silent c.792 p.S264 0.058 pfam_Caldesmon_LSP pfam_Caldesmon_LSP,prints_Caldesmon - no_errors CALD1 HGNC ENSG00000122786 34 0 0.00 34 2 5.56 CCDC106 0 genome.wustl.edu 37 19 56160635 56160635 + Missense_Mutation SNP G G T TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 19 56160635 56160635 G T SNP CCDC106 ENST00000308964 human ensembl 74_37 +1 known missense c.96 p.Q32H 0.999 NULL NULL - no_errors CCDC106 HGNC ENSG00000173581 tier1 - - 80 0 0.00 45 4 8.16 CCDC124 0 genome.wustl.edu 37 19 18047332 18047332 + Nonsense_Mutation SNP G G T TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 19 18047332 18047332 G T SNP CCDC124 ENST00000445755 human ensembl 74_37 +1 known nonsense c.103 p.E35* 1.000 NULL pfam_DUF1014,superfamily_HMG_box_dom - no_errors CCDC124 HGNC ENSG00000007080 tier1 - - 27 0 0.00 25 4 13.79 CHD3 0 genome.wustl.edu 37 17 7809966 7809966 + Missense_Mutation SNP G G A TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 17 7809966 7809966 G A SNP CHD3 ENST00000330494 human ensembl 74_37 +1 known missense c.4454 p.R1485H 1.000 pfam_DUF1086 pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD3 HGNC ENSG00000170004 tier1 - - 49 0 0.00 34 6 15.00 CHRNA4 0 genome.wustl.edu 37 20 61981585 61981585 + Missense_Mutation SNP G G A TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 20 61981585 61981585 G A SNP CHRNA4 ENST00000370263 human ensembl 74_37 -1 known missense c.1178 p.P393L 0.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA4 HGNC ENSG00000101204 12 0 0.00 21 4 16.00 CLDN19 0 genome.wustl.edu 37 1 43204241 43204241 + Missense_Mutation SNP G G A TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 1 43204241 43204241 G A SNP CLDN19 ENST00000296387 human ensembl 74_37 -1 known missense c.239 p.A80V 0.087 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin - no_errors CLDN19 HGNC ENSG00000164007 64 0 0.00 34 2 5.56 CLEC14A 0 genome.wustl.edu 37 14 38724771 38724771 + Nonsense_Mutation SNP C C A TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 14 38724771 38724771 C A SNP CLEC14A ENST00000342213 human ensembl 74_37 -1 known nonsense c.457 p.E153* 0.457 superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC14A HGNC ENSG00000176435 tier1 - - 68 0 0.00 48 6 11.11 CMKLR1 0 genome.wustl.edu 37 12 108686064 108686064 + Missense_Mutation SNP G G A TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 12 108686064 108686064 G A SNP CMKLR1 ENST00000312143 human ensembl 74_37 -1 known missense c.676 p.L226F 0.990 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt,prints_Anphylx_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_DEZorph_rcpt,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt,prints_Anphylx_rcpt,prints_ATII_rcpt - no_errors CMKLR1 HGNC ENSG00000174600 tier1 - - 52 0 0.00 30 4 11.76 COG2 0 genome.wustl.edu 37 1 230822767 230822767 + Silent SNP A A G TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 1 230822767 230822767 A G SNP COG2 ENST00000366669 human ensembl 74_37 +1 known silent c.1467 p.Q489 0.190 NULL pfam_COG_complex_COG2_C,pfam_COG_su2_N - no_errors COG2 HGNC ENSG00000135775 tier1 - - 38 0 0.00 34 5 12.82 CTDP1 0 genome.wustl.edu 37 18 77496418 77496418 + Nonsense_Mutation SNP C C T TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 18 77496418 77496418 C T SNP CTDP1 ENST00000299543 human ensembl 74_37 +1 known nonsense c.2644 p.Q882* 0.864 pfam_FCP1_C pfam_FCP1_C,pfam_NIF,superfamily_HAD-like_dom,superfamily_BRCT_dom,superfamily_Single_hybrid_motif,smart_NIF,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_NIF,tigrfam_FCP1_euk - no_errors CTDP1 HGNC ENSG00000060069 tier1 - - 44 0 0.00 34 4 10.53 CTNNA1 0 genome.wustl.edu 37 5 138221923 138221923 + Missense_Mutation SNP A A T TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 5 138221923 138221923 A T SNP CTNNA1 ENST00000302763 human ensembl 74_37 +1 known missense c.1085 p.D362V 1.000 pfam_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA1 HGNC ENSG00000044115 tier1 - - 64 0 0.00 50 6 10.71 DPCD 0 genome.wustl.edu 37 10 103354421 103354421 + Missense_Mutation SNP G G C TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 10 103354421 103354421 G C SNP DPCD ENST00000370151 human ensembl 74_37 +1 known missense c.71 p.R24T 1.000 NULL NULL - no_errors DPCD HGNC ENSG00000166171 tier1 - - 110 0 0.00 63 13 17.11 DPEP2 0 genome.wustl.edu 37 16 68023258 68023258 + Silent SNP G G A TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 16 68023258 68023258 G A SNP DPEP2 ENST00000393847 human ensembl 74_37 -1 known silent c.1038 p.I346 0.316 pfam_Peptidase_M19 pfam_Peptidase_M19 - no_errors DPEP2 HGNC ENSG00000167261 tier1 - - 71 0 0.00 56 10 15.15 DTNA 0 genome.wustl.edu 37 18 32345961 32345961 + Missense_Mutation SNP A A G TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 18 32345961 32345961 A G SNP DTNA ENST00000269190 human ensembl 74_37 +1 known missense c.104 p.Y35C 1.000 pfam_EF-hand_dom_typ1,pirsf_Distrobrevin pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,smart_Znf_ZZ,pirsf_Distrobrevin,pfscan_Znf_ZZ - no_errors DTNA HGNC ENSG00000134769 33 0 0.00 36 3 7.69 EGR4 0 genome.wustl.edu 37 2 73519305 73519305 + Missense_Mutation SNP G G T TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 2 73519305 73519305 G T SNP EGR4 ENST00000545030 human ensembl 74_37 -1 known missense c.1050 p.S350R 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors EGR4 HGNC ENSG00000135625 83 0 0.00 56 4 6.67 EIF4E2 0 genome.wustl.edu 37 2 233431951 233431951 + Missense_Mutation SNP C C T TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 2 233431951 233431951 C T SNP EIF4E2 ENST00000409495 human ensembl 74_37 +1 putative missense c.692 p.T231M 0.000 NULL pfam_TIF_eIF_4E,superfamily_TIF_eIF4e-like_dom - no_errors EIF4E2 HGNC ENSG00000135930 28 0 0.00 29 2 6.45 ENSG00000245261 0 genome.wustl.edu 37 6 43190859 43190859 + RNA SNP C C A TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 6 43190859 43190859 C A SNP ENSG00000245261 ENST00000500590 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP3-330M21.5 Clone_based_vega_gene ENSG00000245261 tier1 - - 27 0 0.00 19 6 24.00 ENSG00000249034 0 genome.wustl.edu 37 5 140242612 140242612 + Missense_Mutation SNP C C G TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 5 140242612 140242612 C G SNP ENSG00000249034 ENST00000502505 human ensembl 74_37 -1 known missense c.364 p.V122L 0.991 NULL NULL - no_errors AC005609.1 Clone_based_ensembl_gene ENSG00000249034 tier1 - - 83 0 0.00 64 6 8.57 EP400 0 genome.wustl.edu 37 12 132512560 132512560 + Splice_Site SNP A A G TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 12 132512560 132512560 A G SNP EP400 ENST00000333577 human ensembl 74_37 +1 known splice_site c.5218-2 e27-2 0.963 - - - no_errors EP400 HGNC ENSG00000183495 57 0 0.00 40 3 6.98 EPS15 0 genome.wustl.edu 37 1 51906102 51906102 + Silent SNP G G A TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 1 51906102 51906102 G A SNP EPS15 ENST00000371733 human ensembl 74_37 -1 known silent c.957 p.N319 0.442 NULL smart_EPS15_homology,smart_EF_hand_dom,smart_Ubiquitin-int_motif,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_Ubiquitin-int_motif - no_errors EPS15 HGNC ENSG00000085832 39 0 0.00 43 4 8.51 FAM105B 0 genome.wustl.edu 37 5 14693028 14693028 + Nonsense_Mutation SNP C C A TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 5 14693028 14693028 C A SNP FAM105B ENST00000284274 human ensembl 74_37 +1 known nonsense c.930 p.Y310* 0.977 prints_FAM105 prints_FAM105,prints_FAM105B,prints_FAM105A - no_errors FAM105B HGNC ENSG00000154124 tier1 - - 68 0 0.00 70 33 32.04 FAM230B 0 genome.wustl.edu 37 22 21538079 21538079 + RNA SNP A A G TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 22 21538079 21538079 A G SNP FAM230B ENST00000451257 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors FAM230B HGNC ENSG00000215498 31 0 0.00 148 11 6.92 FAM45A 0 genome.wustl.edu 37 10 120897154 120897154 + RNA SNP T T A TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 10 120897154 120897154 T A SNP FAM45A ENST00000489988 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors FAM45A HGNC ENSG00000119979 tier1 - - 27 0 0.00 36 7 16.28 FAM84A 0 genome.wustl.edu 37 2 14775237 14775237 + RNA SNP G G T TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 2 14775237 14775237 G T SNP FAM84A ENST00000497769 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors FAM84A HGNC ENSG00000162981 tier1 - - 43 0 0.00 38 4 9.52 FGF14 0 genome.wustl.edu 37 13 102568817 102568817 + Missense_Mutation SNP C C G TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 13 102568817 102568817 C G SNP FGF14 ENST00000376143 human ensembl 74_37 -1 known missense c.179 p.R60T 1.000 NULL pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF14 HGNC ENSG00000102466 tier1 - - 64 0 0.00 51 6 10.53 FGFR2 0 genome.wustl.edu 37 10 123243225 123243225 + Missense_Mutation SNP A A G TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 10 123243225 123243225 A G SNP FGFR2 ENST00000457416 human ensembl 74_37 -1 known missense c.2291 p.L764P 1.000 pirsf_FGF_rcpt_fam,superfamily_Kinase-like_dom,pfscan_Prot_kinase_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 FGFR2 HGNC ENSG00000066468 60 0 0.00 45 3 6.25 FLG 0 genome.wustl.edu 37 1 152277667 152277667 + Missense_Mutation SNP G G A TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 1 152277667 152277667 G A SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.9695 p.S3232F 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 tier1 - - 135 0 0.00 110 18 14.06 GALNT16 0 genome.wustl.edu 37 14 69805402 69805402 + Silent SNP T T C TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 14 69805402 69805402 T C SNP GALNT16 ENST00000337827 human ensembl 74_37 +1 known silent c.1002 p.S334 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT16 HGNC ENSG00000100626 tier1 - - 111 0 0.00 84 12 12.50 GBP6 0 genome.wustl.edu 37 1 89843995 89843995 + Nonsense_Mutation SNP G G T TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 1 89843995 89843995 G T SNP GBP6 ENST00000370456 human ensembl 74_37 +1 known nonsense c.448 p.E150* 0.990 pfam_Guanylate-bd_N,superfamily_P-loop_NTPase pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase - no_errors GBP6 HGNC ENSG00000183347 27 0 0.00 37 2 5.13 GDF11 0 genome.wustl.edu 37 12 56143474 56143474 + Missense_Mutation SNP G G C TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 12 56143474 56143474 G C SNP GDF11 ENST00000257868 human ensembl 74_37 +1 known missense c.1032 p.Q344H 1.000 pfam_TGF-b_C,smart_TGF-b_C pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C - no_errors GDF11 HGNC ENSG00000135414 tier1 - - 49 0 0.00 36 6 14.29 GGNBP2 0 genome.wustl.edu 37 17 34923570 34923570 + Missense_Mutation SNP C C T TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 17 34923570 34923570 C T SNP GGNBP2 ENST00000304718 human ensembl 74_37 +1 known missense c.596 p.S199L 0.941 NULL NULL - no_errors GGNBP2 HGNC ENSG00000005955 tier1 - - 88 0 0.00 74 12 13.95 GID4 0 genome.wustl.edu 37 17 17957538 17957538 + Missense_Mutation SNP G G T TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 17 17957538 17957538 G T SNP GID4 ENST00000268719 human ensembl 74_37 +1 known missense c.596 p.R199L 1.000 pfam_Vacuolar_import/degrad_Vid24 pfam_Vacuolar_import/degrad_Vid24 - no_errors GID4 HGNC ENSG00000141034 78 0 0.00 50 4 7.41 GMFG 0 genome.wustl.edu 37 19 39826162 39826162 + Missense_Mutation SNP G G T TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 19 39826162 39826162 G T SNP GMFG ENST00000597595 human ensembl 74_37 -1 known missense c.13 p.L5M 0.997 pirsf_GMF-beta pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin,pirsf_GMF-beta - no_errors GMFG HGNC ENSG00000130755 tier1 - - 71 0 0.00 49 4 7.55 GOSR2 0 genome.wustl.edu 37 17 45008544 45008544 + Missense_Mutation SNP G G T TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 17 45008544 45008544 G T SNP GOSR2 ENST00000439730 human ensembl 74_37 +1 known missense c.174 p.E58D 0.997 superfamily_t-SNARE superfamily_t-SNARE - no_errors GOSR2 HGNC ENSG00000108433 26 0 0.00 30 2 6.25 GPR141 0 genome.wustl.edu 37 7 37780568 37780568 + Silent SNP C C A TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 7 37780568 37780568 C A SNP GPR141 ENST00000334425 human ensembl 74_37 +1 known silent c.573 p.A191 0.014 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR141 HGNC ENSG00000187037 tier1 - - 101 0 0.00 92 10 9.80 GRIA1 0 genome.wustl.edu 37 5 153085558 153085558 + Missense_Mutation SNP T T A TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 5 153085558 153085558 T A SNP GRIA1 ENST00000448073 human ensembl 74_37 +1 known missense c.1784 p.F595Y 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA1 HGNC ENSG00000155511 45 0 0.00 36 2 5.26 HIST1H2BH 0 genome.wustl.edu 37 6 26251922 26251922 + Missense_Mutation SNP C C G TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 6 26251922 26251922 C G SNP HIST1H2BH ENST00000356350 human ensembl 74_37 +1 known missense c.44 p.S15C 1.000 superfamily_Histone-fold pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BH HGNC ENSG00000197459 tier1 - - 148 0 0.00 109 13 10.66 HIST1H3B 0 genome.wustl.edu 37 6 26032006 26032006 + Nonsense_Mutation SNP C C A TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 6 26032006 26032006 C A SNP HIST1H3B ENST00000244661 human ensembl 74_37 -1 known nonsense c.283 p.E95* 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST1H3B HGNC ENSG00000124693 tier1 - - 95 0 0.00 89 14 13.59 HIST2H2BB 0 genome.wustl.edu 37 1 149398805 149398805 + RNA SNP C C G TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 1 149398805 149398805 C G SNP HIST2H2BB ENST00000609585 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors HIST2H2BB HGNC ENSG00000240929 tier1 - - 60 0 0.00 64 10 13.51 HMMR 0 genome.wustl.edu 37 5 162917425 162917426 + Frame_Shift_Ins INS - - A TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 5 162917425 162917426 - A INS HMMR ENST00000393915 human ensembl 74_37 +1 known frame_shift_ins c.1992_1993 p.Q667fs 0.976:1.000 NULL NULL - no_errors HMMR HGNC ENSG00000072571 tier1 25 0 0.00 28 3 9.68 HNRNPL 0 genome.wustl.edu 37 19 39330959 39330959 + Frame_Shift_Del DEL G G - TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 19 39330959 39330959 G - DEL HNRNPL ENST00000221419 human ensembl 74_37 -1 known frame_shift_del c.1010 p.P337fs 1.000 tigrfam_HnRNP-L_PTB pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB - no_errors HNRNPL HGNC ENSG00000104824 tier1 15 0 0.00 16 3 15.79 IL9R 0 genome.wustl.edu 37 X 155233447 155233447 + Missense_Mutation SNP C C T TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 X 155233447 155233447 C T SNP IL9R ENST00000369423 human ensembl 74_37 +1 known missense c.494 p.S165L 0.819 NULL superfamily_Fibronectin_type3 - no_errors IL9R HGNC ENSG00000124334 tier1 - - 88 0 0.00 63 22 25.88 IRX4 0 genome.wustl.edu 37 5 1878497 1878499 + In_Frame_Del DEL GGC GGC - TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 GGC GGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 5 1878497 1878499 GGC - DEL IRX4 ENST00000231357 human ensembl 74_37 -1 known in_frame_del c.1146_1144 p.A382in_frame_del 0.734:0.681:0.628 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX4 HGNC ENSG00000113430 tier1 21 0 0.00 7 2 22.22 ITGAD 0 genome.wustl.edu 37 16 31414942 31414942 + Missense_Mutation SNP C C T TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 16 31414942 31414942 C T SNP ITGAD ENST00000389202 human ensembl 74_37 +1 known missense c.680 p.T227M 0.672 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAD HGNC ENSG00000156886 41 0 0.00 34 3 8.11 KCNH6 0 genome.wustl.edu 37 17 61622991 61622991 + Missense_Mutation SNP G G T TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 17 61622991 61622991 G T SNP KCNH6 ENST00000583023 human ensembl 74_37 +1 known missense c.2713 p.D905Y 0.742 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_ELK,prints_2pore_dom_K_chnl,pfscan_cNMP-bd_dom - no_errors KCNH6 HGNC ENSG00000173826 tier1 - - 40 0 0.00 35 4 10.26 KDM3B 0 genome.wustl.edu 37 5 137753253 137753253 + Missense_Mutation SNP A A T TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 5 137753253 137753253 A T SNP KDM3B ENST00000314358 human ensembl 74_37 +1 known missense c.3389 p.Q1130L 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3B HGNC ENSG00000120733 tier1 - - 96 0 0.00 70 14 16.67 LYPLA1 0 genome.wustl.edu 37 8 54960502 54960502 + RNA SNP C C T TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 8 54960502 54960502 C T SNP LYPLA1 ENST00000519272 human ensembl 74_37 -1 known rna NULL NULL 0.041 - - - no_errors LYPLA1 HGNC ENSG00000120992 tier1 - - 51 0 0.00 51 5 8.93 MARCH7 0 genome.wustl.edu 37 2 160599647 160599647 + Missense_Mutation SNP C C T TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 2 160599647 160599647 C T SNP MARCH7 ENST00000259050 human ensembl 74_37 +1 known missense c.229 p.R77C 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH7 HGNC ENSG00000136536 27 0 0.00 31 2 6.06 MIR548I1 0 genome.wustl.edu 37 3 125509324 125509324 + RNA SNP A A G TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 3 125509324 125509324 A G SNP MIR548I1 ENST00000408810 human ensembl 74_37 -1 known rna NULL NULL 0.009 - - - no_errors MIR548I1 HGNC ENSG00000221737 tier1 - - 214 0 0.00 184 14 7.07 MSH6 0 genome.wustl.edu 37 2 48030583 48030583 + Missense_Mutation SNP A A G TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 2 48030583 48030583 A G SNP MSH6 ENST00000234420 human ensembl 74_37 +1 known missense c.3197 p.Y1066C 1.000 pfam_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_core,pirsf_DNA_mismatch_repair_Msh6 pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_core,pfam_PWWP_dom,pfam_DNA_mismatch_repair_MutS_clamp,pfam_DNA_mmatch_repair_MutS_con_dom,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_PWWP_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_Msh6,pfscan_PWWP_dom - no_errors MSH6 HGNC ENSG00000116062 tier1 - - 44 0 0.00 30 7 18.92 MYH1 0 genome.wustl.edu 37 17 10406064 10406066 + In_Frame_Del DEL TTG TTG - TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 TTG TTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 17 10406064 10406066 TTG 0 DEL MYH1 ENST00000226207 human ensembl 74_37 -1 known in_frame_del c.3102_3100 p.Q1034in_frame_del 1.000:1.000:1.000 NULL pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH1 HGNC ENSG00000109061 156 0 0.00 125 7 5.30 NAPRT1 0 genome.wustl.edu 37 8 144657109 144657109 + Missense_Mutation SNP G G T TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 8 144657109 144657109 G T SNP NAPRT1 ENST00000276844 human ensembl 74_37 -1 known missense c.1600 p.L534I 0.000 superfamily_Quinolinate_PRibosylTrfase_C,pirsf_Nic_PRibTrfase-Fam pfam_Nic_PRibTrfase-Fam,superfamily_Quinolinate_PRibosylTrfase_C,pirsf_Nic_PRibTrfase-Fam,tigrfam_Nic_PRibTrfase_pncB - no_errors NAPRT1 HGNC ENSG00000147813 tier1 - - 63 0 0.00 47 15 24.19 NAT10 0 genome.wustl.edu 37 11 34129782 34129782 + Frame_Shift_Del DEL A A - TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 11 34129782 34129782 A - DEL NAT10 ENST00000257829 human ensembl 74_37 +1 known frame_shift_del c.10 p.K5fs 1.000 NULL pfam_Helicase_dom,pfam_DUF1726,superfamily_Acyl_CoA_acyltransferase,superfamily_P-loop_NTPase,pfscan_GNAT_dom - no_errors NAT10 HGNC ENSG00000135372 tier1 58 0 0.00 41 3 6.82 NLRC3 0 genome.wustl.edu 37 16 3592200 3592201 + Frame_Shift_Ins INS - - GG TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 16 3592200 3592201 - GG INS NLRC3 ENST00000448023 human ensembl 74_37 -1 known frame_shift_ins c.3236_3235 p.Q1079fs 0.997:1.000 smart_Leu-rich_rpt_RNase_inh_sub-typ superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase - no_errors NLRC3 HGNC ENSG00000167984 tier1 44 0 0.00 37 2 5.13 NOD2 0 genome.wustl.edu 37 16 50756597 50756597 + Missense_Mutation SNP C C A TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 16 50756597 50756597 C A SNP NOD2 ENST00000300589 human ensembl 74_37 +1 known missense c.2779 p.Q927K 0.855 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD - no_errors NOD2 HGNC ENSG00000167207 tier1 - - 87 0 0.00 73 4 5.19 NOL10 0 genome.wustl.edu 37 2 10815986 10815986 + Missense_Mutation SNP G G T TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 2 10815986 10815986 G T SNP NOL10 ENST00000381685 human ensembl 74_37 -1 known missense c.223 p.P75T 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_NUC153,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors NOL10 HGNC ENSG00000115761 tier1 - - 25 0 0.00 11 3 21.43 NOTCH2 0 genome.wustl.edu 37 1 120483302 120483302 + Missense_Mutation SNP G G A TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 1 120483302 120483302 G A SNP NOTCH2 ENST00000256646 human ensembl 74_37 -1 known missense c.3059 p.S1020F 0.004 pirsf_Notch,pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH2 HGNC ENSG00000134250 tier1 - - 61 0 0.00 42 7 14.29 NOTCH3 0 genome.wustl.edu 37 19 15296491 15296491 + Splice_Site SNP C C T TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 19 15296491 15296491 C T SNP NOTCH3 ENST00000263388 human ensembl 74_37 -1 known splice_site c.1952-1 e13-1 1.000 - - - no_errors NOTCH3 HGNC ENSG00000074181 tier1 - - 43 0 0.00 33 12 26.67 NPC1 0 genome.wustl.edu 37 18 21125043 21125043 + Missense_Mutation SNP C C T TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 18 21125043 21125043 C T SNP NPC1 ENST00000269228 human ensembl 74_37 -1 known missense c.1828 p.E610K 1.000 pfam_Patched,tigrfam_NP_C_type pfam_Patched,pfam_MMPL_dom,pfscan_SSD,tigrfam_NP_C_type - no_errors NPC1 HGNC ENSG00000141458 tier1 - - 51 0 0.00 57 4 6.56 NRG3 0 genome.wustl.edu 37 10 83637833 83637833 + Silent SNP C C T TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 10 83637833 83637833 C T SNP NRG3 ENST00000555784 human ensembl 74_37 +1 known silent c.117 p.V39 1.000 NULL NULL - no_errors NRG3 HGNC ENSG00000185737 tier1 - - 50 0 0.00 46 7 13.21 NUP107 0 genome.wustl.edu 37 12 69114932 69114932 + Missense_Mutation SNP C C T TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 12 69114932 69114932 C T SNP NUP107 ENST00000229179 human ensembl 74_37 +1 known missense c.1286 p.A429V 1.000 pfam_Nup84_Nup100 pfam_Nup84_Nup100 - no_errors NUP107 HGNC ENSG00000111581 tier1 - - 26 0 0.00 13 3 18.75 NUP153 0 genome.wustl.edu 37 6 17661926 17661926 + Silent SNP T T C TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 6 17661926 17661926 T C SNP NUP153 ENST00000537253 human ensembl 74_37 -1 known silent c.1353 p.R451 1.000 pfam_Nucleoporin_Nup153 pfam_Nucleoporin_Nup153,pfam_Znf_RanBP2,pfam_Retro-transposon_transp_CS,smart_Znf_RanBP2,pfscan_Znf_RanBP2 - no_errors NUP153 HGNC ENSG00000124789 tier1 - - 48 0 0.00 23 6 20.69 NUP160 0 genome.wustl.edu 37 11 47814369 47814369 + Missense_Mutation SNP G G A TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 11 47814369 47814369 G A SNP NUP160 ENST00000378460 human ensembl 74_37 -1 known missense c.3419 p.A1140V 1.000 NULL pfam_Nucleoporin_Nup160 - no_errors NUP160 HGNC ENSG00000030066 20 0 0.00 19 3 13.64 OR2M2 0 genome.wustl.edu 37 1 248343797 248343797 + Silent SNP G G T TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 1 248343797 248343797 G T SNP OR2M2 ENST00000359682 human ensembl 74_37 +1 known silent c.510 p.G170 0.000 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 OR2M2 HGNC ENSG00000198601 tier1 - - 145 0 0.00 119 9 7.03 OR2T34 0 genome.wustl.edu 37 1 248737167 248737167 + Missense_Mutation SNP G G A TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 1 248737167 248737167 G A SNP OR2T34 ENST00000328782 human ensembl 74_37 -1 known missense c.892 p.R298C 0.000 pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T34 HGNC ENSG00000183310 tier1 rs148590921 - 15 0 0.00 12 4 25.00 OR2T6 0 genome.wustl.edu 37 1 248551359 248551359 + Silent SNP C C T TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 1 248551359 248551359 C T SNP OR2T6 ENST00000355728 human ensembl 74_37 +1 known silent c.450 p.F150 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR2T6 HGNC ENSG00000198104 53 0 0.00 31 2 6.06 OSBPL10 0 genome.wustl.edu 37 3 31774849 31774849 + Frame_Shift_Del DEL T T - TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 3 31774849 31774849 T - DEL OSBPL10 ENST00000396556 human ensembl 74_37 -1 known frame_shift_del c.995 p.N332fs 1.000 NULL pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL10 HGNC ENSG00000144645 tier1 73 0 0.00 36 2 5.26 OTOGL 0 genome.wustl.edu 37 12 80647261 80647261 + Missense_Mutation SNP A A G TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 12 80647261 80647261 A G SNP OTOGL ENST00000458043 human ensembl 74_37 +1 known missense c.1274 p.N425S 1.000 pfam_TIL_dom,superfamily_TIL_dom pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_AbfB,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 - no_errors OTOGL HGNC ENSG00000165899 tier1 - - 79 0 0.00 30 11 26.83 PARP2 0 genome.wustl.edu 37 14 20822982 20822982 + Missense_Mutation SNP G G A TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 14 20822982 20822982 G A SNP PARP2 ENST00000250416 human ensembl 74_37 +1 known missense c.817 p.A273T 1.000 pfam_Poly(ADP-ribose)pol_reg_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,pfscan_Poly(ADP-ribose)pol_reg_dom pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Poly(ADP-ribose)pol_reg_dom,pfam_WGR_domain,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_WGR_domain,smart_WGR_domain,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP2 HGNC ENSG00000129484 69 0 0.00 34 2 5.56 PCDHA3 0 genome.wustl.edu 37 5 140182336 140182336 + Silent SNP C C T TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 5 140182336 140182336 C T SNP PCDHA3 ENST00000522353 human ensembl 74_37 +1 known silent c.1554 p.Y518 0.732 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA3 HGNC ENSG00000255408 tier1 - - 213 0 0.00 190 11 5.47 PCDHGC5 0 genome.wustl.edu 37 5 140870083 140870083 + Missense_Mutation SNP G G A TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 5 140870083 140870083 G A SNP PCDHGC5 ENST00000252087 human ensembl 74_37 +1 known missense c.1276 p.A426T 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGC5 HGNC ENSG00000240764 tier1 - - 55 0 0.00 40 7 14.89 PENK 0 genome.wustl.edu 37 8 57358292 57358292 + Missense_Mutation SNP G G A TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 8 57358292 57358292 G A SNP PENK ENST00000518770 human ensembl 74_37 -1 putative missense c.221 p.A74V 0.002 NULL pfam_Opioid_neupept,prints_Proenkphlin_A - no_errors PENK HGNC ENSG00000181195 tier1 - - 80 0 0.00 64 7 9.72 PHKG2 0 genome.wustl.edu 37 16 30764831 30764831 + Missense_Mutation SNP C C T TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 16 30764831 30764831 C T SNP PHKG2 ENST00000563588 human ensembl 74_37 +1 known missense c.509 p.S170L 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,prints_Phosph_kin_gamma,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PHKG2 HGNC ENSG00000156873 tier1 - - 39 0 0.00 34 6 15.00 PIK3R6 0 genome.wustl.edu 37 17 8733047 8733047 + Missense_Mutation SNP A A T TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 17 8733047 8733047 A T SNP PIK3R6 ENST00000311434 human ensembl 74_37 -1 known missense c.865 p.L289M 1.000 pfam_PI3K_1B_gamma_p101_su pfam_PI3K_1B_gamma_p101_su - no_errors PIK3R6 HGNC ENSG00000174083 tier1 - - 46 0 0.00 44 8 15.38 PITPNB 0 genome.wustl.edu 37 22 28292539 28292539 + Splice_Site SNP C C T TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 22 28292539 28292539 C T SNP PITPNB ENST00000455418 human ensembl 74_37 -1 known splice_site c.378+1 e6+1 1.000 - - - no_errors PITPNB HGNC ENSG00000180957 tier1 - - 20 0 0.00 17 6 26.09 PLAT 0 genome.wustl.edu 37 8 42037508 42037508 + Silent SNP C C T TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 8 42037508 42037508 C T SNP PLAT ENST00000220809 human ensembl 74_37 -1 known silent c.1299 p.P433 0.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Kringle,pfam_Fibronectin_type1,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PLAT HGNC ENSG00000104368 tier1 - - 32 0 0.00 42 5 10.64 PLEC 0 genome.wustl.edu 37 8 145012810 145012810 + Missense_Mutation SNP G G T TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 8 145012810 145012810 G T SNP PLEC ENST00000322810 human ensembl 74_37 -1 known missense c.574 p.H192N 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 51 0 0.00 44 5 10.20 PLXNA4 0 genome.wustl.edu 37 7 131912288 131912288 + Missense_Mutation SNP C C T TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 7 131912288 131912288 C T SNP PLXNA4 ENST00000321063 human ensembl 74_37 -1 known missense c.1804 p.D602N 1.000 NULL pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA4 HGNC ENSG00000221866 tier1 - - 66 0 0.00 52 4 7.14 PLXND1 0 genome.wustl.edu 37 3 129286396 129286396 + Missense_Mutation SNP C C T TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 3 129286396 129286396 C T SNP PLXND1 ENST00000324093 human ensembl 74_37 -1 known missense c.4025 p.R1342H 1.000 NULL pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXND1 HGNC ENSG00000004399 tier1 - - 77 0 0.00 38 4 9.52 PREP 0 genome.wustl.edu 37 6 105729749 105729749 + Silent SNP G G T TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 6 105729749 105729749 G T SNP PREP ENST00000369110 human ensembl 74_37 -1 known silent c.1710 p.L570 0.999 pfam_Peptidase_S9,prints_Peptidase_S9A pfam_Pept_S9A_N,pfam_Peptidase_S9,prints_Peptidase_S9A - no_errors PREP HGNC ENSG00000085377 43 0 0.00 35 2 5.41 PRKCB 0 genome.wustl.edu 37 16 24183591 24183591 + Missense_Mutation SNP G G T TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 16 24183591 24183591 G T SNP PRKCB ENST00000303531 human ensembl 74_37 +1 known missense c.1240 p.D414Y 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,pirsf_Protein_kinase_C_a/b/g,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd,prints_C2_dom - no_errors PRKCB HGNC ENSG00000166501 tier1 - - 100 0 0.00 49 4 7.55 PYGL 0 genome.wustl.edu 37 14 51404467 51404467 + Missense_Mutation SNP T T C TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 14 51404467 51404467 T C SNP PYGL ENST00000216392 human ensembl 74_37 -1 known missense c.332 p.E111G 1.000 pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas - no_errors PYGL HGNC ENSG00000100504 62 0 0.00 61 4 6.15 QSOX1 0 genome.wustl.edu 37 1 180166101 180166101 + Silent SNP C C T TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 1 180166101 180166101 C T SNP QSOX1 ENST00000367602 human ensembl 74_37 +1 known silent c.2173 p.L725 1.000 NULL pfam_ERV/ALR_sulphydryl_oxidase,pfam_Thioredoxin_domain,superfamily_ERV/ALR_sulphydryl_oxidase,superfamily_Thioredoxin-like_fold - no_errors QSOX1 HGNC ENSG00000116260 tier1 - - 115 0 0.00 58 14 19.44 RAB1A 0 genome.wustl.edu 37 2 65331879 65331879 + Missense_Mutation SNP G G T TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 2 65331879 65331879 G T SNP RAB1A ENST00000409784 human ensembl 74_37 -1 known missense c.85 p.L29I 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB1A HGNC ENSG00000138069 41 0 0.00 37 4 9.76 RALGAPA1 0 genome.wustl.edu 37 14 36244250 36244250 + Missense_Mutation SNP G G T TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 14 36244250 36244250 G T SNP RALGAPA1 ENST00000258840 human ensembl 74_37 -1 known missense c.229 p.Q77K 1.000 NULL pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom - no_errors RALGAPA1 HGNC ENSG00000174373 tier1 - - 91 0 0.00 75 4 5.06 RALGAPB 0 genome.wustl.edu 37 20 37153456 37153456 + Missense_Mutation SNP A A G TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 20 37153456 37153456 A G SNP RALGAPB ENST00000262879 human ensembl 74_37 +1 known missense c.1655 p.N552S 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold,pfscan_Rap_GAP_dom - no_errors RALGAPB HGNC ENSG00000170471 tier1 - - 141 0 0.00 104 8 7.14 RCHY1 0 genome.wustl.edu 37 4 76439454 76439454 + Nonsense_Mutation SNP G G A TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 4 76439454 76439454 G A SNP RCHY1 ENST00000324439 human ensembl 74_37 -1 known nonsense c.43 p.R15* 0.006 NULL pfam_Znf_CHY,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RCHY1 HGNC ENSG00000163743 45 0 0.00 41 6 12.77 RECQL5 0 genome.wustl.edu 37 17 73662528 73662528 + Missense_Mutation SNP G G A TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 17 73662528 73662528 G A SNP RECQL5 ENST00000317905 human ensembl 74_37 -1 known missense c.110 p.A37V 0.990 pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,tigrfam_DNA_helicase_ATP-dep_RecQ pfam_RecQ_helicase-like_5,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors RECQL5 HGNC ENSG00000108469 tier1 - - 50 0 0.00 33 11 25.00 RNGTT 0 genome.wustl.edu 37 6 89600276 89600276 + Silent SNP C C T TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 6 89600276 89600276 C T SNP RNGTT ENST00000369485 human ensembl 74_37 -1 known silent c.834 p.K278 1.000 pfam_mRNA_cap_enzyme,pirsf_mRNA_cap_enz_bifunc pfam_mRNA_cap_enzyme,pfam_mRNA_cap_enzyme_C,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_NA-bd_OB-fold,pirsf_mRNA_cap_enz_bifunc,pfscan_Tyr/Dual-sp_Pase - no_errors RNGTT HGNC ENSG00000111880 49 0 0.00 38 2 5.00 RPA4 0 genome.wustl.edu 37 X 96140055 96140055 + Missense_Mutation SNP A A G TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 X 96140055 96140055 A G SNP RPA4 ENST00000373040 human ensembl 74_37 +1 known missense c.746 p.Y249C 0.007 pfam_RPA_C,pirsf_RPA32 pfam_RPA_C,pfam_NA-bd_OB_tRNA,superfamily_NA-bd_OB-fold,pirsf_RPA32 - no_errors RPA4 HGNC ENSG00000204086 tier1 - - 23 0 0.00 3 8 72.73 RPL12P38 0 genome.wustl.edu 37 17 58512419 58512419 + RNA DEL A A - TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 17 58512419 58512419 A - DEL RPL12P38 ENST00000588627 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors RPL12P38 HGNC ENSG00000213228 tier1 19 0 0.00 17 5 22.73 RPL6 0 genome.wustl.edu 37 12 112843140 112843140 + Missense_Mutation SNP G G T TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 12 112843140 112843140 G T SNP RPL6 ENST00000202773 human ensembl 74_37 -1 known missense c.755 p.A252D 1.000 pfam_60S_ribosomal_L6E pfam_60S_ribosomal_L6E,pfam_Ribosomal_L6_N,superfamily_Translation_prot_SH3-like - no_errors RPL6 HGNC ENSG00000089009 34 0 0.00 24 3 11.11 RRNAD1 0 genome.wustl.edu 37 1 156703182 156703182 + Missense_Mutation SNP G G T TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 1 156703182 156703182 G T SNP RRNAD1 ENST00000368216 human ensembl 74_37 +1 known missense c.506 p.R169L 1.000 NULL NULL - no_errors RRNAD1 HGNC ENSG00000143303 32 0 0.00 29 3 9.38 RXFP2 0 genome.wustl.edu 37 13 32365960 32365960 + Missense_Mutation SNP G G A TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 13 32365960 32365960 G A SNP RXFP2 ENST00000298386 human ensembl 74_37 +1 known missense c.1163 p.R388Q 1.000 prints_Relaxin_rcpt pfam_GPCR_Rhodpsn,pfam_Leu-rich_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_LDrepeatLR_classA_rpt,pfscan_GPCR_Rhodpsn_7TM,prints_Relaxin_rcpt,prints_GPCR_Rhodpsn,prints_Gphrmn_rcpt_fam - no_errors RXFP2 HGNC ENSG00000133105 tier1 - - 79 0 0.00 61 11 15.28 SCIN 0 genome.wustl.edu 37 7 12680126 12680126 + Missense_Mutation SNP T T C TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 7 12680126 12680126 T C SNP SCIN ENST00000297029 human ensembl 74_37 +1 known missense c.1565 p.I522T 0.895 smart_Villin/Gelsolin pfam_Gelsolin_dom,smart_Villin/Gelsolin,prints_Villin/Gelsolin - no_errors SCIN HGNC ENSG00000006747 tier1 - - 51 0 0.00 39 6 13.33 SCN9A 0 genome.wustl.edu 37 2 167056175 167056175 + Silent SNP G G A TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 2 167056175 167056175 G A SNP SCN9A ENST00000303354 human ensembl 74_37 -1 known silent c.4977 p.Y1659 0.961 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN9A HGNC ENSG00000169432 tier1 - - 147 0 0.00 111 13 10.48 SDCCAG8 0 genome.wustl.edu 37 1 243434327 243434327 + Nonsense_Mutation SNP G G T TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 1 243434327 243434327 G T SNP SDCCAG8 ENST00000366541 human ensembl 74_37 +1 known nonsense c.268 p.E90* 0.968 NULL NULL - no_errors SDCCAG8 HGNC ENSG00000054282 tier1 - - 31 0 0.00 29 4 12.12 SERPINB11 0 genome.wustl.edu 37 18 61390626 61390626 + Missense_Mutation SNP C C T TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 18 61390626 61390626 C T SNP SERPINB11 ENST00000536691 human ensembl 74_37 +1 known missense c.647 p.S216F 1.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB11 HGNC ENSG00000206072 tier1 - - 22 0 0.00 19 4 17.39 SERPING1 0 genome.wustl.edu 37 11 57367850 57367850 + Missense_Mutation SNP G G A TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 11 57367850 57367850 G A SNP SERPING1 ENST00000278407 human ensembl 74_37 +1 known missense c.550 p.G184R 1.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPING1 HGNC ENSG00000149131 tier1 - - 73 0 0.00 55 5 8.33 SGCE 0 genome.wustl.edu 37 7 94218011 94218011 + Silent SNP C C T TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 7 94218011 94218011 C T SNP SGCE ENST00000445866 human ensembl 74_37 -1 known silent c.1362 p.Q454 1.000 NULL pfam_Sarcoglycan_2,superfamily_Cadherin-like,smart_Cadg - no_errors SGCE HGNC ENSG00000127990 38 0 0.00 45 4 8.16 SH2D3C 0 genome.wustl.edu 37 9 130507210 130507210 + Missense_Mutation SNP G G A TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 9 130507210 130507210 G A SNP SH2D3C ENST00000314830 human ensembl 74_37 -1 known missense c.1433 p.A478V 0.789 NULL pfam_SH2,pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_SH2,smart_RasGRF_CDC25,pfscan_SH2,pfscan_RasGRF_CDC25 - no_errors SH2D3C HGNC ENSG00000095370 74 0 0.00 50 4 7.41 SLC25A25 0 genome.wustl.edu 37 9 130868491 130868491 + Silent SNP G G T TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 9 130868491 130868491 G T SNP SLC25A25 ENST00000373069 human ensembl 74_37 +1 known silent c.999 p.G333 0.996 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Graves_DC pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Graves_DC - no_errors SLC25A25 HGNC ENSG00000148339 tier1 - - 78 0 0.00 46 23 33.33 SLC26A9 0 genome.wustl.edu 37 1 205899089 205899089 + Silent SNP C C G TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 1 205899089 205899089 C G SNP SLC26A9 ENST00000340781 human ensembl 74_37 -1 known silent c.648 p.L216 0.998 pfam_Sulph_transpt,tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A9 HGNC ENSG00000174502 56 0 0.00 36 4 10.00 SNED1 0 genome.wustl.edu 37 2 241969711 241969711 + Missense_Mutation SNP A A T TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 2 241969711 241969711 A T SNP SNED1 ENST00000310397 human ensembl 74_37 +1 known missense c.224 p.N75I 1.000 NULL pfam_EG-like_dom,pfam_Fibronectin_type3,pfam_Nidogen_extracell_dom,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_Fibronectin_type3,superfamily_Sushi_SCR_CCP,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Fibronectin_type3,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Sushi_SCR_CCP - no_errors SNED1 HGNC ENSG00000162804 tier1 - - 98 0 0.00 75 11 12.79 SORT1 0 genome.wustl.edu 37 1 109867695 109867695 + Missense_Mutation SNP C C T TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 1 109867695 109867695 C T SNP SORT1 ENST00000256637 human ensembl 74_37 -1 known missense c.1660 p.G554S 1.000 pfam_BNR_rpt,smart_VPS10 pfam_BNR_rpt,smart_VPS10 - no_errors SORT1 HGNC ENSG00000134243 39 0 0.00 30 3 9.09 SPNS1 0 genome.wustl.edu 37 16 28993282 28993282 + Silent SNP G G T TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 16 28993282 28993282 G T SNP SPNS1 ENST00000311008 human ensembl 74_37 +1 known silent c.870 p.L290 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SPNS1 HGNC ENSG00000169682 117 0 0.00 90 5 5.26 ST18 0 genome.wustl.edu 37 8 53050009 53050009 + Missense_Mutation SNP C C T TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 8 53050009 53050009 C T SNP ST18 ENST00000276480 human ensembl 74_37 -1 known missense c.2203 p.V735M 1.000 pfam_Znf_C2HC pfam_Myelin_TF,pfam_Znf_C2HC - no_errors ST18 HGNC ENSG00000147488 tier1 - - 72 0 0.00 68 18 20.93 STAG1 0 genome.wustl.edu 37 3 136141859 136141859 + Missense_Mutation SNP G G C TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 3 136141859 136141859 G C SNP STAG1 ENST00000383202 human ensembl 74_37 -1 known missense c.1678 p.Q560E 1.000 superfamily_ARM-type_fold pfam_STAG,superfamily_ARM-type_fold - no_errors STAG1 HGNC ENSG00000118007 76 0 0.00 70 4 5.41 SUPT16H 0 genome.wustl.edu 37 14 21834640 21834640 + Frame_Shift_Del DEL T T - TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 14 21834640 21834640 T - DEL SUPT16H ENST00000216297 human ensembl 74_37 -1 known frame_shift_del c.1004 p.K335fs 1.000 pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain pfam_FACT_Spt16p,pfam_Pept_M24_structural-domain,pfam_DUF1747,superfamily_Pept_M24_structural-domain - no_errors SUPT16H HGNC ENSG00000092201 tier1 25 0 0.00 28 2 6.67 TBC1D32 0 genome.wustl.edu 37 6 121638672 121638672 + Missense_Mutation SNP T T C TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 6 121638672 121638672 T C SNP TBC1D32 ENST00000275159 human ensembl 74_37 -1 putative missense c.464 p.N155S 1.000 NULL superfamily_Rab-GTPase-TBC_dom - no_errors TBC1D32 HGNC ENSG00000146350 tier1 - - 134 0 0.00 95 5 5.00 THAP4 0 genome.wustl.edu 37 2 242573291 242573292 + Frame_Shift_Ins INS - - C TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 2 242573291 242573292 - C INS THAP4 ENST00000407315 human ensembl 74_37 -1 known frame_shift_ins c.281_280 p.A94fs 0.000:0.000 NULL pfam_DUF1794,pfam_Znf_C2CH,superfamily_Calycin-like,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP4 HGNC ENSG00000176946 tier1 65 0 0.00 48 13 21.31 TLL2 0 genome.wustl.edu 37 10 98144480 98144480 + Silent SNP G G A TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 10 98144480 98144480 G A SNP TLL2 ENST00000357947 human ensembl 74_37 -1 known silent c.2058 p.P686 0.508 pirsf_BMP_1/tolloid-like,pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pirsf_BMP_1/tolloid-like,pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,prints_Peptidase_M12A,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors TLL2 HGNC ENSG00000095587 tier1 - - 47 0 0.00 28 5 15.15 TMEM131 0 genome.wustl.edu 37 2 98409874 98409874 + Missense_Mutation SNP T T C TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 2 98409874 98409874 T C SNP TMEM131 ENST00000186436 human ensembl 74_37 -1 known missense c.3529 p.I1177V 1.000 NULL pfam_DUF3651_TMEM131 - no_errors TMEM131 HGNC ENSG00000075568 tier1 - - 89 0 0.00 101 10 9.01 TMEM184A 0 genome.wustl.edu 37 7 1586653 1586654 + In_Frame_Ins INS - - GCC TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 7 1586653 1586654 - GCC INS TMEM184A ENST00000297477 human ensembl 74_37 -1 known in_frame_ins c.1177_1176 p.392in_frame_insG 0.000:0.000 NULL pfam_Ost-alpha - no_errors TMEM184A HGNC ENSG00000164855 tier1 10 0 0.00 8 5 38.46 TNK2 0 genome.wustl.edu 37 3 195615459 195615459 + Missense_Mutation SNP T T C TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 3 195615459 195615459 T C SNP TNK2 ENST00000381916 human ensembl 74_37 -1 known missense c.190 p.M64V 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Cdc42_binding_dom_like,pfam_Inhibitor_Mig-6,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_SAM/pointed,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SH3_domain,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_SH3_domain,pfscan_Prot_kinase_dom - no_errors TNK2 HGNC ENSG00000061938 tier1 - - 51 0 0.00 39 5 11.36 TP53 0 genome.wustl.edu 37 17 7578461 7578461 + Missense_Mutation SNP C C A TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 17 7578461 7578461 C A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.469 p.V157F 0.032 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 rs121912654 - 446 0 0.00 299 128 29.91 TRIM68 0 genome.wustl.edu 37 11 4622317 4622317 + Missense_Mutation SNP G G C TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 11 4622317 4622317 G C SNP TRIM68 ENST00000300747 human ensembl 74_37 -1 known missense c.847 p.L283V 0.950 NULL 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,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM68 HGNC ENSG00000167333 53 0 0.00 18 2 10.00 TRIM8 0 genome.wustl.edu 37 10 104404515 104404515 + Silent SNP C C T TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 10 104404515 104404515 C T SNP TRIM8 ENST00000302424 human ensembl 74_37 +1 known silent c.141 p.S47 0.994 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors TRIM8 HGNC ENSG00000171206 tier1 - - 46 0 0.00 49 4 7.55 TRMT13 0 genome.wustl.edu 37 1 100613525 100613525 + Missense_Mutation SNP G G T TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 1 100613525 100613525 G T SNP TRMT13 ENST00000370141 human ensembl 74_37 +1 known missense c.893 p.R298L 0.996 pfam_Methyltransferase_TRM13 pfam_Methyltransferase_TRM13,pfam_Znf_CCCH-type_TRM13,pfam_TRM13/UPF0224_CHHC_Znf_dom - no_errors TRMT13 HGNC ENSG00000122435 34 0 0.00 26 4 13.33 TRMT61A 0 genome.wustl.edu 37 14 103996454 103996454 + Missense_Mutation SNP G G T TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 14 103996454 103996454 G T SNP TRMT61A ENST00000389749 human ensembl 74_37 +1 known missense c.139 p.V47F 0.022 pfam_tRNA_MeTrfase_GCD14,pirsf_tRNA_MeTrfase_GCD14 pfam_tRNA_MeTrfase_GCD14,pirsf_tRNA_MeTrfase_GCD14 - no_errors TRMT61A HGNC ENSG00000166166 tier1 - - 60 0 0.00 38 4 9.52 TROVE2 0 genome.wustl.edu 37 1 193053996 193053997 + RNA INS - - A TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 1 193053996 193053997 - A INS TROVE2 ENST00000460715 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors TROVE2 HGNC ENSG00000116747 tier1 26 0 0.00 25 5 16.67 TTN 0 genome.wustl.edu 37 2 179611634 179611634 + Missense_Mutation SNP C C T TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 2 179611634 179611634 C T SNP TTN ENST00000360870 human ensembl 74_37 -1 known missense c.15493 p.D5165N 0.959 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 85 0 0.00 63 13 17.11 TTN 0 genome.wustl.edu 37 2 179441478 179441478 + Missense_Mutation SNP C C G TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 2 179441478 179441478 C G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.61789 p.D20597H 0.975 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 45 0 0.00 37 3 7.50 TTPAL 0 genome.wustl.edu 37 20 43115335 43115335 + Missense_Mutation SNP A A G TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 20 43115335 43115335 A G SNP TTPAL ENST00000262605 human ensembl 74_37 +1 known missense c.739 p.I247V 1.000 pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran - no_errors TTPAL HGNC ENSG00000124120 tier1 - - 27 0 0.00 42 4 8.70 USP19 0 genome.wustl.edu 37 3 49148789 49148789 + Missense_Mutation SNP G G C TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 3 49148789 49148789 G C SNP USP19 ENST00000398888 human ensembl 74_37 -1 known missense c.2918 p.P973R 0.998 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Znf_MYND,pfam_CS_dom,superfamily_HSP20-like_chaperone,pfscan_CS_dom,pfscan_Znf_MYND,pfscan_Peptidase_C19/C67 - no_errors USP19 HGNC ENSG00000172046 tier1 - - 30 0 0.00 24 5 17.24 USP8 0 genome.wustl.edu 37 15 50784950 50784950 + Missense_Mutation SNP C C T TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 15 50784950 50784950 C T SNP USP8 ENST00000307179 human ensembl 74_37 +1 known missense c.2287 p.R763W 1.000 NULL pfam_Peptidase_C19/C67,pfam_USP8_dimer,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_WW_dom,pfscan_Rhodanese-like_dom,pfscan_Peptidase_C19/C67 - no_errors USP8 HGNC ENSG00000138592 tier1 rs78143971 - 28 0 0.00 39 6 13.33 VPS13C 0 genome.wustl.edu 37 15 62232916 62232916 + Missense_Mutation SNP C C A TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 15 62232916 62232916 C A SNP VPS13C ENST00000261517 human ensembl 74_37 -1 known missense c.5531 p.R1844L 0.994 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13C HGNC ENSG00000129003 31 0 0.00 37 2 5.13 VPS29 0 genome.wustl.edu 37 12 110930988 110930988 + Missense_Mutation SNP T T C TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 12 110930988 110930988 T C SNP VPS29 ENST00000549578 human ensembl 74_37 -1 known missense c.244 p.I82V 1.000 tigrfam_Phosphodiesterase_MJ0936 tigrfam_Phosphodiesterase_MJ0936 - no_errors VPS29 HGNC ENSG00000111237 tier1 - - 20 0 0.00 12 6 33.33 VWDE 0 genome.wustl.edu 37 7 12414695 12414695 + Missense_Mutation SNP C C T TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 7 12414695 12414695 C T SNP VWDE ENST00000452576 human ensembl 74_37 -1 known missense c.1183 p.V395M 0.865 NULL pfam_VWF_type-D,superfamily_Cadherin-like,smart_VWF_type-D,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors VWDE HGNC ENSG00000146530 tier1 - - 70 0 0.00 66 11 14.29 ZBED4 0 genome.wustl.edu 37 22 50280738 50280739 + Frame_Shift_Ins INS - - C TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 22 50280738 50280739 - C INS ZBED4 ENST00000216268 human ensembl 74_37 +1 known frame_shift_ins c.3428_3429 p.L1144fs 0.982:0.998 pfam_HATC_dom_C,superfamily_RNaseH-like_dom pfam_Znf_BED_prd,pfam_HATC_dom_C,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd - no_errors ZBED4 HGNC ENSG00000100426 tier1 57 0 0.00 44 11 20.00 ZFP64 0 genome.wustl.edu 37 20 50769335 50769335 + Missense_Mutation SNP C C T TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 20 50769335 50769335 C T SNP ZFP64 ENST00000216923 human ensembl 74_37 -1 known missense c.1396 p.D466N 0.006 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP64 HGNC ENSG00000020256 tier1 - - 21 0 0.00 19 9 32.14 ZFYVE27 0 genome.wustl.edu 37 10 99509265 99509265 + Silent SNP C C T TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 10 99509265 99509265 C T SNP ZFYVE27 ENST00000356257 human ensembl 74_37 +1 known silent c.586 p.L196 1.000 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE27 HGNC ENSG00000155256 tier1 - - 72 0 0.00 45 8 15.09 ZNF582 0 genome.wustl.edu 37 19 56895796 56895796 + Silent SNP C C T TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 19 56895796 56895796 C T SNP ZNF582 ENST00000301310 human ensembl 74_37 -1 known silent c.990 p.Q330 0.930 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 ZNF582 HGNC ENSG00000018869 41 0 0.00 26 2 7.14 ZNF780A 0 genome.wustl.edu 37 19 40580618 40580618 + Silent SNP T T C TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07f227f2-7f51-461a-9196-6dd37dceb2c8 06532cf4-0464-427c-b802-8e7b7a5bd0b1 19 40580618 40580618 T C SNP ZNF780A ENST00000455521 human ensembl 74_37 -1 known silent c.1734 p.K578 0.991 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 ZNF780A HGNC ENSG00000197782 tier1 - - 89 0 0.00 78 6 7.14