Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source ensembl_gene_id tier dbSNP GMAF n_ref_count n_alt_count normal_vaf t_ref_count t_alt_count tumor_vaf n_ref_count_val n_alt_count_val normal_vaf_val t_ref_count_val t_alt_count_val tumor_vaf_val CALHM1 0 genome.wustl.edu 37 10 105215261 105215261 + Silent SNP G G A TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f06f79b3-53f9-4c0a-935f-e721ebcada6b b50283e5-96cd-4cf4-a35d-6a07340996aa 10 105215261 105215261 G A SNP CALHM1 ENST00000329905 human ensembl 74_37 -1 known silent c.799 p.L267 0.115 NULL NULL - no_errors CALHM1 HGNC ENSG00000185933 tier1 - - 162 1 0.61 1 34 97.14 FBXO5 0 genome.wustl.edu 37 6 153294183 153294183 + Missense_Mutation SNP T T C TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f06f79b3-53f9-4c0a-935f-e721ebcada6b b50283e5-96cd-4cf4-a35d-6a07340996aa 6 153294183 153294183 T C SNP FBXO5 ENST00000229758 human ensembl 74_37 -1 known missense c.907 p.T303A 0.008 NULL pfam_F-box_dom,superfamily_F-box_dom - no_errors FBXO5 HGNC ENSG00000112029 tier1 - - 124 0 0.00 13 14 51.85 GRIN2D 0 genome.wustl.edu 37 19 48945211 48945211 + Missense_Mutation SNP A A G TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f06f79b3-53f9-4c0a-935f-e721ebcada6b b50283e5-96cd-4cf4-a35d-6a07340996aa 19 48945211 48945211 A G SNP GRIN2D ENST00000263269 human ensembl 74_37 +1 known missense c.2438 p.D813G 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2D HGNC ENSG00000105464 tier1 - - 74 0 0.00 25 9 25.71 GSDMD 0 genome.wustl.edu 37 8 144642051 144642051 + Missense_Mutation SNP G G T TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f06f79b3-53f9-4c0a-935f-e721ebcada6b b50283e5-96cd-4cf4-a35d-6a07340996aa 8 144642051 144642051 G T SNP GSDMD ENST00000262580 human ensembl 74_37 +1 known missense c.322 p.A108S 0.074 pfam_Gasdermin pfam_Gasdermin - no_errors GSDMD HGNC ENSG00000104518 tier1 - - 87 0 0.00 24 18 42.86 SNHG15 0 genome.wustl.edu 37 7 45025228 45025228 + R DEL T T - TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f06f79b3-53f9-4c0a-935f-e721ebcada6b b50283e5-96cd-4cf4-a35d-6a07340996aa 7 45025228 45025228 T - DEL SNHG15 ENST00000577700 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SNHG15 HGNC ENSG00000232956 tier1 54 0 0.00 13 2 13.33 SCN1A 0 genome.wustl.edu 37 2 166908339 166908339 + Missense_Mutation SNP G G A TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f06f79b3-53f9-4c0a-935f-e721ebcada6b b50283e5-96cd-4cf4-a35d-6a07340996aa 2 166908339 166908339 G A SNP SCN1A ENST00000303395 human ensembl 74_37 -1 known missense c.854 p.A285V 0.015 pfam_Ion_trans_dom,prints_Na_channel_a1su pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN1A HGNC ENSG00000144285 tier1 - - 109 0 0.00 21 16 43.24 NCAPG 0 genome.wustl.edu 37 4 17838918 17838918 + Missense_Mutation SNP G G T TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f06f79b3-53f9-4c0a-935f-e721ebcada6b b50283e5-96cd-4cf4-a35d-6a07340996aa 4 17838918 17838918 G T SNP NCAPG ENST00000251496 human ensembl 74_37 +1 known missense c.2246 p.R749L 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors NCAPG HGNC ENSG00000109805 tier1 - - 130 0 0.00 23 3 11.54 SND1 0 genome.wustl.edu 37 7 127347658 127347658 + Missense_Mutation SNP C C A TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f06f79b3-53f9-4c0a-935f-e721ebcada6b b50283e5-96cd-4cf4-a35d-6a07340996aa 7 127347658 127347658 C A SNP SND1 ENST00000354725 human ensembl 74_37 +1 known missense c.995 p.P332H 1.000 superfamily_Staphylococal_nuclease_OB-fold,pirsf_Silence_cplx_Nase-comp_TudorSN pfam_Staphylococal_nuclease_OB-fold,pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococal_nuclease_OB-fold,smart_Tudor,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Tudor,pfscan_Staphylococal_nuclease_OB-fold - no_errors SND1 HGNC ENSG00000197157 tier1 - - 67 0 0.00 16 10 38.46 LINC00052 0 genome.wustl.edu 37 15 88121557 88121558 + R DEL CA CA - TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f06f79b3-53f9-4c0a-935f-e721ebcada6b b50283e5-96cd-4cf4-a35d-6a07340996aa 15 88121557 88121558 CA - DEL LINC00052 ENST00000560153 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors LINC00052 HGNC ENSG00000259527 tier1 170 1 0.58 23 3 11.54 LOC101927958 0 genome.wustl.edu 37 2 239140352 239140353 + R INS - - GGCCTCCGGGCCGCGGC TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f06f79b3-53f9-4c0a-935f-e721ebcada6b b50283e5-96cd-4cf4-a35d-6a07340996aa 2 239140352 239140353 - GGCCTCCGGGCCGCGGC INS LOC101927958 ENST00000456601 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors AC096574.4 Clone_based_vega_gene ENSG00000225057 tier1 CTNND2 0 genome.wustl.edu 37 5 11117589 11117589 + Silent SNP C C T TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f06f79b3-53f9-4c0a-935f-e721ebcada6b b50283e5-96cd-4cf4-a35d-6a07340996aa 5 11117589 11117589 C T SNP CTNND2 ENST00000304623 human ensembl 74_37 -1 known silent c.2250 p.A750 0.188 superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND2 HGNC ENSG00000169862 tier1 - - 137 0 0.00 17 21 55.26 EFCAB6-AS1 0 genome.wustl.edu 37 22 43930759 43930759 + R DEL A A - TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f06f79b3-53f9-4c0a-935f-e721ebcada6b b50283e5-96cd-4cf4-a35d-6a07340996aa 22 43930759 43930759 A - DEL EFCAB6-AS1 ENST00000431327 human ensembl 74_37 +1 known rna NULL NULL 0.015 - - - no_errors EFCAB6-AS1 HGNC ENSG00000223843 tier1 43 0 0.00 2 9 81.82 MYRF 0 genome.wustl.edu 37 11 61541466 61541466 + Silent SNP G G A TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f06f79b3-53f9-4c0a-935f-e721ebcada6b b50283e5-96cd-4cf4-a35d-6a07340996aa 11 61541466 61541466 G A SNP MYRF ENST00000278836 human ensembl 74_37 +1 known silent c.1143 p.A381 0.259 superfamily_p53-like_TF_D-bd pfam_NDT80_D-bd_dom,superfamily_p53-like_TF_D-bd - no_errors MYRF HGNC ENSG00000124920 tier1 - - 49 0 0.00 13 3 18.75 PACS2 0 genome.wustl.edu 37 14 105843157 105843157 + Missense_Mutation SNP A A G TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f06f79b3-53f9-4c0a-935f-e721ebcada6b b50283e5-96cd-4cf4-a35d-6a07340996aa 14 105843157 105843157 A G SNP PACS2 ENST00000458164 human ensembl 74_37 +1 known missense c.854 p.D285G 1.000 NULL pfam_Phosphofurin_acidic_CS-1 - no_errors PACS2 HGNC ENSG00000179364 tier1 - - 144 0 0.00 41 21 33.87 SUFU 0 genome.wustl.edu 37 10 104352400 104352401 + Frame_Shift_Del DEL AA AA - TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f06f79b3-53f9-4c0a-935f-e721ebcada6b b50283e5-96cd-4cf4-a35d-6a07340996aa 10 104352400 104352401 AA - DEL SUFU ENST00000369902 human ensembl 74_37 +1 known frame_shift_del c.516_517 p.R173fs 0.987:1.000 pfam_SUFU-like_domain,pirsf_Suppressor_of_fused_euk pfam_SUFU_C,pfam_SUFU-like_domain,pirsf_Suppressor_of_fused_euk - no_errors SUFU HGNC ENSG00000107882 tier1 53 0 0.00 14 2 12.50 DJC8 0 genome.wustl.edu 37 1 28535044 28535045 + R INS - - A TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f06f79b3-53f9-4c0a-935f-e721ebcada6b b50283e5-96cd-4cf4-a35d-6a07340996aa 1 28535044 28535045 - A INS DJC8 ENST00000470967 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors DJC8 HGNC ENSG00000126698 tier1 21 0 0.00 8 3 27.27 SERPINB8 0 genome.wustl.edu 37 18 61654403 61654403 + Missense_Mutation SNP G G T TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f06f79b3-53f9-4c0a-935f-e721ebcada6b b50283e5-96cd-4cf4-a35d-6a07340996aa 18 61654403 61654403 G T SNP SERPINB8 ENST00000353706 human ensembl 74_37 +1 known missense c.1016 p.R339L 0.017 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB8 HGNC ENSG00000166401 tier1 - - 90 0 0.00 20 4 16.67 MAP3K11 0 genome.wustl.edu 37 11 65374848 65374848 + Missense_Mutation SNP A A T TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f06f79b3-53f9-4c0a-935f-e721ebcada6b b50283e5-96cd-4cf4-a35d-6a07340996aa 11 65374848 65374848 A T SNP MAP3K11 ENST00000309100 human ensembl 74_37 -1 known missense c.1382 p.L461Q 1.000 pirsf_MAPKKK9/10/11 pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom - no_errors MAP3K11 HGNC ENSG00000173327 tier1 - - 13 0 0.00 5 10 66.67 EMID1 0 genome.wustl.edu 37 22 29611585 29611585 + Silent SNP C C T TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f06f79b3-53f9-4c0a-935f-e721ebcada6b b50283e5-96cd-4cf4-a35d-6a07340996aa 22 29611585 29611585 C T SNP EMID1 ENST00000334018 human ensembl 74_37 +1 known silent c.285 p.C95 1.000 pfam_EMI_domain,pfscan_EMI_domain pfam_Collagen,pfam_EMI_domain,pfscan_EMI_domain - no_errors EMID1 HGNC ENSG00000186998 tier1 - - 97 0 0.00 20 3 13.04 TESK2 0 genome.wustl.edu 37 1 45811025 45811025 + Silent SNP A A C TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f06f79b3-53f9-4c0a-935f-e721ebcada6b b50283e5-96cd-4cf4-a35d-6a07340996aa 1 45811025 45811025 A C SNP TESK2 ENST00000372086 human ensembl 74_37 -1 known silent c.1203 p.P401 0.999 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TESK2 HGNC ENSG00000070759 tier1 - - 89 0 0.00 14 13 48.15 LOC101927345 0 genome.wustl.edu 37 1 143398949 143398949 + R SNP A A T TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f06f79b3-53f9-4c0a-935f-e721ebcada6b b50283e5-96cd-4cf4-a35d-6a07340996aa 1 143398949 143398949 A T SNP LOC101927345 ENST00000458155 human ensembl 74_37 +1 known rna NULL NULL 0.181 - - - no_errors RP11-435B5.5 Clone_based_vega_gene ENSG00000238261 tier1 - - 70 0 0.00 20 3 13.04 PRIM2 0 genome.wustl.edu 37 6 57512787 57512788 + R INS - - CACCAAGGC TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f06f79b3-53f9-4c0a-935f-e721ebcada6b b50283e5-96cd-4cf4-a35d-6a07340996aa 6 57512787 57512788 - CACCAAGGC INS PRIM2 ENST00000389488 human ensembl 74_37 +1 known rna NULL NULL 0.057:0.034 - - - no_errors PRIM2 HGNC ENSG00000146143 tier1 DOCK8 0 genome.wustl.edu 37 9 379812 379812 + Missense_Mutation SNP G G A TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f06f79b3-53f9-4c0a-935f-e721ebcada6b b50283e5-96cd-4cf4-a35d-6a07340996aa 9 379812 379812 G A SNP DOCK8 ENST00000453981 human ensembl 74_37 +1 known missense c.2482 p.A828T 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold - no_errors DOCK8 HGNC ENSG00000107099 tier1 rs138519226 - 150 0 0.00 25 26 50.00 SPATA31A6 0 genome.wustl.edu 37 9 43626916 43626916 + Missense_Mutation SNP G G C TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f06f79b3-53f9-4c0a-935f-e721ebcada6b b50283e5-96cd-4cf4-a35d-6a07340996aa 9 43626916 43626916 G C SNP SPATA31A6 ENST00000332857 human ensembl 74_37 -1 known missense c.1771 p.L591V 0.002 NULL NULL - no_errors SPATA31A6 HGNC ENSG00000185775 tier1 - - 177 0 0.00 73 59 44.70 POU4F2 0 genome.wustl.edu 37 4 147561228 147561228 + Silent SNP G G A TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f06f79b3-53f9-4c0a-935f-e721ebcada6b b50283e5-96cd-4cf4-a35d-6a07340996aa 4 147561228 147561228 G A SNP POU4F2 ENST00000281321 human ensembl 74_37 +1 known silent c.498 p.A166 0.217 NULL pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_D-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU4F2 HGNC ENSG00000151615 tier1 - - 122 0 0.00 25 23 47.92 LOC100129434 0 genome.wustl.edu 37 2 56404786 56404786 + R SNP T T G TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f06f79b3-53f9-4c0a-935f-e721ebcada6b b50283e5-96cd-4cf4-a35d-6a07340996aa 2 56404786 56404786 T G SNP LOC100129434 ENST00000432793 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors AC007743.1 Clone_based_vega_gene ENSG00000233251 tier1 - - 118 0 0.00 19 5 20.83 RANGAP1 0 genome.wustl.edu 37 22 41642642 41642642 + Frame_Shift_Del DEL G G - TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f06f79b3-53f9-4c0a-935f-e721ebcada6b b50283e5-96cd-4cf4-a35d-6a07340996aa 22 41642642 41642642 G - DEL RANGAP1 ENST00000356244 human ensembl 74_37 -1 known frame_shift_del c.1729 p.R577fs 1.000 pfam_Ran_GTPase_activating_1_C,superfamily_Ran_GTPase_activating_1_C pfam_Ran_GTPase_activating_1_C,superfamily_Ran_GTPase_activating_1_C,smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors RANGAP1 HGNC ENSG00000100401 tier1 133 0 0.00 21 2 8.70 THAP11 0 genome.wustl.edu 37 16 67876994 67876994 + Silent SNP T T C TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f06f79b3-53f9-4c0a-935f-e721ebcada6b b50283e5-96cd-4cf4-a35d-6a07340996aa 16 67876994 67876994 T C SNP THAP11 ENST00000303596 human ensembl 74_37 +1 known silent c.537 p.T179 0.999 NULL pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP11 HGNC ENSG00000168286 tier1 - - 86 0 0.00 1 14 93.33 KIAA1191 0 genome.wustl.edu 37 5 175782612 175782612 + Missense_Mutation SNP G G A TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f06f79b3-53f9-4c0a-935f-e721ebcada6b b50283e5-96cd-4cf4-a35d-6a07340996aa 5 175782612 175782612 G A SNP KIAA1191 ENST00000298569 human ensembl 74_37 -1 known missense c.169 p.P57S 1.000 NULL NULL - no_errors KIAA1191 HGNC ENSG00000122203 tier1 - - 98 0 0.00 24 4 14.29 FLAD1 0 genome.wustl.edu 37 1 154956441 154956442 + Frame_Shift_Ins INS - - T TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f06f79b3-53f9-4c0a-935f-e721ebcada6b b50283e5-96cd-4cf4-a35d-6a07340996aa 1 154956441 154956442 - T INS FLAD1 ENST00000292180 human ensembl 74_37 +1 novel frame_shift_ins c.271_272 p.R91fs 0.034:0.042 pirsf_FAD_synth_Mopterin-bd pfam_Mopterin-bd_dom,pfam_PAPS_reduct,superfamily_Mopterin-bd_dom,smart_Mopterin-bd_dom,pirsf_FAD_synth_Mopterin-bd - no_errors FLAD1 HGNC ENSG00000160688 tier1 86 0 0.00 22 17 43.59 MAML3 0 genome.wustl.edu 37 4 140811086 140811096 + Frame_Shift_Del DEL GCTGCTGCTGC GCTGCTGCTGC - TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 GCTGCTGCTGC GCTGCTGCTGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f06f79b3-53f9-4c0a-935f-e721ebcada6b b50283e5-96cd-4cf4-a35d-6a07340996aa 4 140811086 140811096 GCTGCTGCTGC - DEL MAML3 ENST00000509479 human ensembl 74_37 -1 known frame_shift_del c.1504_1494 p.Q499fs 1.000:1.000:0.999:1.000:0.997:1.000:1.000:0.999:1.000:1.000:0.999 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML3 HGNC ENSG00000196782 tier1 GPR111 0 genome.wustl.edu 37 6 47649471 47649471 + Silent SNP A A G TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f06f79b3-53f9-4c0a-935f-e721ebcada6b b50283e5-96cd-4cf4-a35d-6a07340996aa 6 47649471 47649471 A G SNP GPR111 ENST00000296862 human ensembl 74_37 +1 known silent c.1176 p.T392 0.004 pfam_GPS_dom,pfscan_GPS_dom pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR111 HGNC ENSG00000164393 tier1 - - 60 0 0.00 9 6 40.00 S100A7L2 0 genome.wustl.edu 37 1 153410753 153410753 + Missense_Mutation SNP C C T TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f06f79b3-53f9-4c0a-935f-e721ebcada6b b50283e5-96cd-4cf4-a35d-6a07340996aa 1 153410753 153410753 C T SNP S100A7L2 ENST00000368725 human ensembl 74_37 -1 known missense c.86 p.R29H 0.000 NULL pfscan_EF_hand_dom - no_errors S100A7L2 HGNC ENSG00000197364 tier1 - - 37 0 0.00 6 6 50.00 USP9Y 0 genome.wustl.edu 37 Y 14902412 14902412 + Missense_Mutation SNP G G A TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f06f79b3-53f9-4c0a-935f-e721ebcada6b b50283e5-96cd-4cf4-a35d-6a07340996aa Y 14902412 14902412 G A SNP USP9Y ENST00000338981 human ensembl 74_37 +1 known missense c.3634 p.E1212K 1.000 superfamily_ARM-type_fold pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,superfamily_Glycoside_hydrolase_SF,pfscan_Peptidase_C19/C67 - no_errors USP9Y HGNC ENSG00000114374 tier1 - - 98 0 0.00 20 3 13.04 SYT16 0 genome.wustl.edu 37 14 62550996 62550996 + Missense_Mutation SNP C C T TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f06f79b3-53f9-4c0a-935f-e721ebcada6b b50283e5-96cd-4cf4-a35d-6a07340996aa 14 62550996 62550996 C T SNP SYT16 ENST00000430451 human ensembl 74_37 +1 novel missense c.1517 p.A506V 0.999 superfamily_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors SYT16 HGNC ENSG00000139973 tier1 - - 69 0 0.00 3 9 75.00 DYNC1H1 0 genome.wustl.edu 37 14 102493601 102493601 + Silent SNP C C T TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f06f79b3-53f9-4c0a-935f-e721ebcada6b b50283e5-96cd-4cf4-a35d-6a07340996aa 14 102493601 102493601 C T SNP DYNC1H1 ENST00000360184 human ensembl 74_37 +1 known silent c.8862 p.N2954 0.786 pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 tier1 - - 175 0 0.00 5 32 86.49 PRTN3 0 genome.wustl.edu 37 19 841040 841040 + Missense_Mutation SNP C C T TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f06f79b3-53f9-4c0a-935f-e721ebcada6b b50283e5-96cd-4cf4-a35d-6a07340996aa 19 841040 841040 C T SNP PRTN3 ENST00000234347 human ensembl 74_37 +1 known missense c.32 p.A11V 0.002 NULL pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PRTN3 HGNC ENSG00000196415 tier1 - - 156 0 0.00 41 21 33.87 OR52L1 0 genome.wustl.edu 37 11 6007790 6007790 + Missense_Mutation SNP G G T TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f06f79b3-53f9-4c0a-935f-e721ebcada6b b50283e5-96cd-4cf4-a35d-6a07340996aa 11 6007790 6007790 G T SNP OR52L1 ENST00000332249 human ensembl 74_37 -1 known missense c.371 p.A124E 0.676 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52L1 HGNC ENSG00000183313 tier1 - - 118 0 0.00 5 24 82.76 PRSS1 0 genome.wustl.edu 37 7 142459862 142459862 + Missense_Mutation SNP C C A TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f06f79b3-53f9-4c0a-935f-e721ebcada6b b50283e5-96cd-4cf4-a35d-6a07340996aa 7 142459862 142459862 C A SNP PRSS1 ENST00000311737 human ensembl 74_37 +1 known missense c.438 p.N146K 1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PRSS1 HGNC ENSG00000204983 tier1 - - 89 0 0.00 36 10 21.74 ENO2 0 genome.wustl.edu 37 12 7028828 7028828 + Frame_Shift_Del DEL A A - TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f06f79b3-53f9-4c0a-935f-e721ebcada6b b50283e5-96cd-4cf4-a35d-6a07340996aa 12 7028828 7028828 A - DEL ENO2 ENST00000229277 human ensembl 74_37 +1 known frame_shift_del c.766 p.K256fs 1.000 pfam_Enolase_C,pirsf_Enolase,tigrfam_Enolase pfam_Enolase_C,pfam_Enolase_N,pfam_MeAsp_NH4-lyase_C,pirsf_Enolase,prints_Enolase,tigrfam_Enolase - no_errors ENO2 HGNC ENSG00000111674 tier1 78 0 0.00 16 2 11.11 EDEM2 0 genome.wustl.edu 37 20 33730242 33730242 + Missense_Mutation SNP C C T TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f06f79b3-53f9-4c0a-935f-e721ebcada6b b50283e5-96cd-4cf4-a35d-6a07340996aa 20 33730242 33730242 C T SNP EDEM2 ENST00000374492 human ensembl 74_37 -1 known missense c.298 p.V100M 0.998 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors EDEM2 HGNC ENSG00000088298 tier1 - - 81 0 0.00 19 22 53.66 CERS6 0 genome.wustl.edu 37 2 169571588 169571588 + Silent SNP A A C TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f06f79b3-53f9-4c0a-935f-e721ebcada6b b50283e5-96cd-4cf4-a35d-6a07340996aa 2 169571588 169571588 A C SNP CERS6 ENST00000392687 human ensembl 74_37 +1 known silent c.687 p.R229 1.000 pfam_TLC-dom,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom pfam_TLC-dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom,pfscan_Homeobox_dom - no_errors CERS6 HGNC ENSG00000172292 tier1 - - 168 0 0.00 53 11 17.19 WDR52 0 genome.wustl.edu 37 3 113045447 113045447 + Frame_Shift_Del DEL T T - TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f06f79b3-53f9-4c0a-935f-e721ebcada6b b50283e5-96cd-4cf4-a35d-6a07340996aa 3 113045447 113045447 T - DEL WDR52 ENST00000393845 human ensembl 74_37 -1 known frame_shift_del c.4361 p.K1454fs 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR52 HGNC ENSG00000206530 tier1 60 0 0.00 16 2 11.11 OTUD6B 0 genome.wustl.edu 37 8 92096322 92096322 + Frame_Shift_Del DEL A A - TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f06f79b3-53f9-4c0a-935f-e721ebcada6b b50283e5-96cd-4cf4-a35d-6a07340996aa 8 92096322 92096322 A - DEL OTUD6B ENST00000285420 human ensembl 74_37 +1 known frame_shift_del c.867 p.K291fs 0.000 pfam_OTU,pfscan_OTU pfam_OTU,pfam_Peptidase_C65_otubain,pfscan_OTU - no_errors OTUD6B HGNC ENSG00000155100 tier1 97 0 0.00 32 3 8.57 CCDC30 0 genome.wustl.edu 37 1 42948563 42948563 + R DEL A A - TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f06f79b3-53f9-4c0a-935f-e721ebcada6b b50283e5-96cd-4cf4-a35d-6a07340996aa 1 42948563 42948563 A - DEL CCDC30 ENST00000475614 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors CCDC30 HGNC ENSG00000186409 tier1 24 0 0.00 21 3 12.50 ATRX 0 genome.wustl.edu 37 X 76937411 76937411 + Nonsense_Mutation SNP C C A TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f06f79b3-53f9-4c0a-935f-e721ebcada6b b50283e5-96cd-4cf4-a35d-6a07340996aa X 76937411 76937411 C A SNP ATRX ENST00000373344 human ensembl 74_37 -1 known nonsense c.3337 p.E1113* 0.992 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC ENSG00000085224 tier1 - - 16 0 0.00 0 16 100.00 ANO8 0 genome.wustl.edu 37 19 17443927 17443927 + Missense_Mutation SNP G G A TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f06f79b3-53f9-4c0a-935f-e721ebcada6b b50283e5-96cd-4cf4-a35d-6a07340996aa 19 17443927 17443927 G A SNP ANO8 ENST00000159087 human ensembl 74_37 -1 known missense c.472 p.R158C 0.988 NULL pfam_Anoctamin - no_errors ANO8 HGNC ENSG00000074855 tier1 - - 65 0 0.00 7 20 74.07 VPS16 0 genome.wustl.edu 37 20 2842314 2842314 + Missense_Mutation SNP G G A TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f06f79b3-53f9-4c0a-935f-e721ebcada6b b50283e5-96cd-4cf4-a35d-6a07340996aa 20 2842314 2842314 G A SNP VPS16 ENST00000380445 human ensembl 74_37 +1 known missense c.863 p.R288Q 1.000 pfam_Vps16_N,pirsf_VPS16 pfam_Vps16_N,pfam_Vps16_C,pirsf_VPS16 - no_errors VPS16 HGNC ENSG00000215305 tier1 - - 135 0 0.00 11 32 74.42 GSDMD 0 genome.wustl.edu 37 8 144642052 144642052 + Missense_Mutation SNP C C A TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f06f79b3-53f9-4c0a-935f-e721ebcada6b b50283e5-96cd-4cf4-a35d-6a07340996aa 8 144642052 144642052 C A SNP GSDMD ENST00000262580 human ensembl 74_37 +1 known missense c.323 p.A108D 0.067 pfam_Gasdermin pfam_Gasdermin - no_errors GSDMD HGNC ENSG00000104518 tier1 - - 87 0 0.00 24 16 40.00 HIF1A 0 genome.wustl.edu 37 14 62187220 62187220 + Silent SNP G G A TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f06f79b3-53f9-4c0a-935f-e721ebcada6b b50283e5-96cd-4cf4-a35d-6a07340996aa 14 62187220 62187220 G A SNP HIF1A ENST00000539097 human ensembl 74_37 +1 known silent c.228 p.S76 0.024 superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,prints_HIF-1_alpha,pfscan_PAS,pfscan_bHLH_dom,tigrfam_PAS - no_errors HIF1A HGNC ENSG00000100644 tier1 - - 102 0 0.00 18 4 18.18 KRT74 0 genome.wustl.edu 37 12 52965747 52965747 + Missense_Mutation SNP T T G TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f06f79b3-53f9-4c0a-935f-e721ebcada6b b50283e5-96cd-4cf4-a35d-6a07340996aa 12 52965747 52965747 T G SNP KRT74 ENST00000305620 human ensembl 74_37 -1 known missense c.728 p.E243A 1.000 pfam_IF,prints_Keratin_II pfam_IF,prints_Keratin_II - no_errors KRT74 HGNC ENSG00000170484 tier1 - - 129 0 0.00 13 3 18.75 HERC2 0 genome.wustl.edu 37 15 28421691 28421691 + Missense_Mutation SNP C C G TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f06f79b3-53f9-4c0a-935f-e721ebcada6b b50283e5-96cd-4cf4-a35d-6a07340996aa 15 28421691 28421691 C G SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known missense c.9569 p.S3190T 1.000 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 tier1 - - 319 0 0.00 8 59 88.06 YY1 0 genome.wustl.edu 37 14 100728670 100728670 + Missense_Mutation SNP G G C TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f06f79b3-53f9-4c0a-935f-e721ebcada6b b50283e5-96cd-4cf4-a35d-6a07340996aa 14 100728670 100728670 G C SNP YY1 ENST00000262238 human ensembl 74_37 +1 known missense c.709 p.V237L 1.000 pirsf_TF_Yin_yang pfam_Znf_C2H2,smart_Znf_C2H2-like,pirsf_TF_Yin_yang,pfscan_Znf_C2H2 - no_errors YY1 HGNC ENSG00000100811 tier1 - - 101 0 0.00 15 6 28.57 FBN2 0 genome.wustl.edu 37 5 127645047 127645047 + Frame_Shift_Del DEL A A - TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f06f79b3-53f9-4c0a-935f-e721ebcada6b b50283e5-96cd-4cf4-a35d-6a07340996aa 5 127645047 127645047 A - DEL FBN2 ENST00000262464 human ensembl 74_37 -1 known frame_shift_del c.5245 p.C1749fs 0.993 pirsf_FBN,pfam_TB_dom,superfamily_TB_dom pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors FBN2 HGNC ENSG00000138829 tier1 73 0 0.00 17 2 10.53 STRADA 0 genome.wustl.edu 37 17 61787902 61787903 + In_Frame_Ins INS - - GCAGGATGTAAGCAATCGCCA TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f06f79b3-53f9-4c0a-935f-e721ebcada6b b50283e5-96cd-4cf4-a35d-6a07340996aa 17 61787902 61787903 - GCAGGATGTAAGCAATCGCCA INS STRADA ENST00000336174 human ensembl 74_37 -1 known in_frame_ins c.530_529 p.177in_frame_insLAIAYIL 1.000:1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors STRADA HGNC ENSG00000266173 tier1 MCAM 0 genome.wustl.edu 37 11 119183296 119183296 + Missense_Mutation SNP C C T TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f06f79b3-53f9-4c0a-935f-e721ebcada6b b50283e5-96cd-4cf4-a35d-6a07340996aa 11 119183296 119183296 C T SNP MCAM ENST00000264036 human ensembl 74_37 -1 known missense c.802 p.V268M 0.996 pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Immunoglobulin,pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MCAM HGNC ENSG00000076706 tier1 - - 63 0 0.00 13 13 50.00 FAM131B 0 genome.wustl.edu 37 7 143053674 143053674 + Missense_Mutation SNP A A G TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f06f79b3-53f9-4c0a-935f-e721ebcada6b b50283e5-96cd-4cf4-a35d-6a07340996aa 7 143053674 143053674 A G SNP FAM131B ENST00000443739 human ensembl 74_37 -1 known missense c.1052 p.F351S 1.000 NULL NULL - no_errors FAM131B HGNC ENSG00000159784 tier1 - - 60 0 0.00 14 12 46.15 EPHA4 0 genome.wustl.edu 37 2 222283801 222283801 + R DEL T T - TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f06f79b3-53f9-4c0a-935f-e721ebcada6b b50283e5-96cd-4cf4-a35d-6a07340996aa 2 222283801 222283801 T - DEL EPHA4 ENST00000469354 human ensembl 74_37 -1 putative rna NULL NULL 1.000 - - - no_errors EPHA4 HGNC ENSG00000116106 tier1 78 0 0.00 14 2 12.50 NCKAP1 0 genome.wustl.edu 37 2 183806893 183806894 + Splice_Site INS - - A TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f06f79b3-53f9-4c0a-935f-e721ebcada6b b50283e5-96cd-4cf4-a35d-6a07340996aa 2 183806893 183806894 - A INS NCKAP1 ENST00000360982 human ensembl 74_37 -1 known splice_site_ins c.2620-3_2620-2 e25-2 0.999:0.019 - - - no_errors NCKAP1 HGNC ENSG00000061676 tier1 96 0 0.00 12 3 20.00 KIAA1804 0 genome.wustl.edu 37 1 233482270 233482270 + Nonsense_Mutation SNP G G A TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f06f79b3-53f9-4c0a-935f-e721ebcada6b b50283e5-96cd-4cf4-a35d-6a07340996aa 1 233482270 233482270 G A SNP KIAA1804 ENST00000366624 human ensembl 74_37 +1 known nonsense c.888 p.W296* 1.000 pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom - no_errors MLK4 Uniprot_gn ENSG00000143674 tier1 - - 66 0 0.00 1 18 94.74 EXOC7 0 genome.wustl.edu 37 17 74077182 74077182 + R SNP G G A TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f06f79b3-53f9-4c0a-935f-e721ebcada6b b50283e5-96cd-4cf4-a35d-6a07340996aa 17 74077182 74077182 G A SNP EXOC7 ENST00000591724 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors EXOC7 HGNC ENSG00000182473 tier1 - - 50 0 0.00 3 14 82.35 LINC00461 0 genome.wustl.edu 37 5 87972088 87972088 + R SNP G G T TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f06f79b3-53f9-4c0a-935f-e721ebcada6b b50283e5-96cd-4cf4-a35d-6a07340996aa 5 87972088 87972088 G T SNP LINC00461 ENST00000504246 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors LINC00461 HGNC ENSG00000245526 tier1 - - 71 0 0.00 21 3 12.50 ANKRD34C 0 genome.wustl.edu 37 15 79587136 79587136 + Missense_Mutation SNP A A G TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f06f79b3-53f9-4c0a-935f-e721ebcada6b b50283e5-96cd-4cf4-a35d-6a07340996aa 15 79587136 79587136 A G SNP ANKRD34C ENST00000421388 human ensembl 74_37 +1 known missense c.1510 p.R504G 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD34C HGNC ENSG00000235711 tier1 - - 71 0 0.00 5 18 78.26 GLYATL3 0 genome.wustl.edu 37 6 49494259 49494259 + Missense_Mutation SNP C C T TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f06f79b3-53f9-4c0a-935f-e721ebcada6b b50283e5-96cd-4cf4-a35d-6a07340996aa 6 49494259 49494259 C T SNP GLYATL3 ENST00000371197 human ensembl 74_37 +1 known missense c.499 p.R167W 0.867 pfam_Glycine_N-acyltransferase_N,superfamily_Acyl_CoA_acyltransferase pfam_Glycine_N-acyltransferase_N,pfam_Glycine_N-acyltransferase_C,pfam_FR47,superfamily_Acyl_CoA_acyltransferase - no_errors GLYATL3 HGNC ENSG00000203972 tier1 - - 128 0 0.00 31 26 45.61 TMEM184B 0 genome.wustl.edu 37 22 38643803 38643803 + Frame_Shift_Del DEL C C - TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f06f79b3-53f9-4c0a-935f-e721ebcada6b b50283e5-96cd-4cf4-a35d-6a07340996aa 22 38643803 38643803 C - DEL TMEM184B ENST00000361684 human ensembl 74_37 -1 known frame_shift_del c.165 p.W55fs 1.000 pfam_Ost-alpha pfam_Ost-alpha - no_errors TMEM184B HGNC ENSG00000198792 tier1 77 0 0.00 18 2 10.00 XKR6 0 genome.wustl.edu 37 8 11052720 11052720 + Missense_Mutation SNP G G T TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f06f79b3-53f9-4c0a-935f-e721ebcada6b b50283e5-96cd-4cf4-a35d-6a07340996aa 8 11052720 11052720 G T SNP XKR6 ENST00000297303 human ensembl 74_37 -1 putative missense c.775 p.P259T 0.000 NULL pfam_Transport_prot_XK - no_errors XKR6 HGNC ENSG00000171044 tier1 - - 135 0 0.00 13 21 61.76 FAM3D 0 genome.wustl.edu 37 3 58629402 58629402 + Silent SNP G G A TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f06f79b3-53f9-4c0a-935f-e721ebcada6b b50283e5-96cd-4cf4-a35d-6a07340996aa 3 58629402 58629402 G A SNP FAM3D ENST00000358781 human ensembl 74_37 -1 known silent c.309 p.I103 0.988 NULL NULL - no_errors FAM3D HGNC ENSG00000198643 tier1 - - 160 0 0.00 27 9 25.00 ATP10D 0 genome.wustl.edu 37 4 47537547 47537547 + Silent SNP C C A TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f06f79b3-53f9-4c0a-935f-e721ebcada6b b50283e5-96cd-4cf4-a35d-6a07340996aa 4 47537547 47537547 C A SNP ATP10D ENST00000273859 human ensembl 74_37 +1 known silent c.798 p.R266 0.090 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP10D HGNC ENSG00000145246 tier1 - - 94 0 0.00 4 15 78.95 HMGB1 0 genome.wustl.edu 37 13 31035551 31035551 + Missense_Mutation SNP C C A TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f06f79b3-53f9-4c0a-935f-e721ebcada6b b50283e5-96cd-4cf4-a35d-6a07340996aa 13 31035551 31035551 C A SNP HMGB1 ENST00000339872 human ensembl 74_37 -1 known missense c.591 p.E197D 0.679 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors HMGB1 HGNC ENSG00000189403 tier1 - - 54 0 0.00 9 2 18.18 PROL1 0 genome.wustl.edu 37 4 71265275 71265275 + R SNP C C T TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f06f79b3-53f9-4c0a-935f-e721ebcada6b b50283e5-96cd-4cf4-a35d-6a07340996aa 4 71265275 71265275 C T SNP PROL1 ENST00000514338 human ensembl 74_37 +1 known rna NULL NULL 0.019 - - - no_errors PROL1 HGNC ENSG00000171199 tier1 - - 9 0 0.00 2 7 77.78 LRP2 0 genome.wustl.edu 37 2 170163909 170163909 + Splice_Site SNP T T C TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f06f79b3-53f9-4c0a-935f-e721ebcada6b b50283e5-96cd-4cf4-a35d-6a07340996aa 2 170163909 170163909 T C SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known splice_site c.311-2 e4-2 1.000 - - - no_errors LRP2 HGNC ENSG00000081479 tier1 - - 52 0 0.00 1 12 92.31 ENSG00000262112 0 genome.wustl.edu 37 17 54969002 54969002 + R SNP T T C TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f06f79b3-53f9-4c0a-935f-e721ebcada6b b50283e5-96cd-4cf4-a35d-6a07340996aa 17 54969002 54969002 T C SNP ENSG00000262112 ENST00000574826 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-670E13.5 Clone_based_vega_gene ENSG00000262112 tier1 - - 19 0 0.00 1 7 87.50 C6orf10 0 genome.wustl.edu 37 6 32283562 32283562 + Silent SNP C C T TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f06f79b3-53f9-4c0a-935f-e721ebcada6b b50283e5-96cd-4cf4-a35d-6a07340996aa 6 32283562 32283562 C T SNP C6orf10 ENST00000442822 human ensembl 74_37 -1 putative silent c.540 p.S180 0.861 NULL NULL - no_errors C6orf10 HGNC ENSG00000204296 tier1 - - 71 0 0.00 21 9 30.00 CECR2 0 genome.wustl.edu 37 22 17983960 17983960 + Missense_Mutation SNP G G A TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f06f79b3-53f9-4c0a-935f-e721ebcada6b b50283e5-96cd-4cf4-a35d-6a07340996aa 22 17983960 17983960 G A SNP CECR2 ENST00000400573 human ensembl 74_37 +1 novel missense c.716 p.R239H 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors CECR2 HGNC ENSG00000099954 tier1 - - 80 0 0.00 4 9 69.23 DMGDH 0 genome.wustl.edu 37 5 78338141 78338141 + Silent SNP C C T TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f06f79b3-53f9-4c0a-935f-e721ebcada6b b50283e5-96cd-4cf4-a35d-6a07340996aa 5 78338141 78338141 C T SNP DMGDH ENST00000255189 human ensembl 74_37 -1 known silent c.1158 p.Q386 1.000 pfam_FAD-dep_OxRdtase pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C,pfam_SoxG - no_errors DMGDH HGNC ENSG00000132837 tier1 - - 79 0 0.00 11 23 67.65 NLRP5 0 genome.wustl.edu 37 19 56539567 56539567 + Silent SNP C C T TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f06f79b3-53f9-4c0a-935f-e721ebcada6b b50283e5-96cd-4cf4-a35d-6a07340996aa 19 56539567 56539567 C T SNP NLRP5 ENST00000390649 human ensembl 74_37 +1 known silent c.1968 p.P656 0.000 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_CHT_NTPase,pfscan_DAPIN - no_errors NLRP5 HGNC ENSG00000171487 tier1 - - 77 0 0.00 21 13 38.24 CPN1 0 genome.wustl.edu 37 10 101841286 101841286 + Missense_Mutation SNP G G A TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f06f79b3-53f9-4c0a-935f-e721ebcada6b b50283e5-96cd-4cf4-a35d-6a07340996aa 10 101841286 101841286 G A SNP CPN1 ENST00000370418 human ensembl 74_37 -1 known missense c.97 p.R33W 0.997 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_DUF2817,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPN1 HGNC ENSG00000120054 tier1 - - 99 0 0.00 17 3 15.00 ZFYVE27 0 genome.wustl.edu 37 10 99511211 99511211 + Missense_Mutation SNP G G T TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f06f79b3-53f9-4c0a-935f-e721ebcada6b b50283e5-96cd-4cf4-a35d-6a07340996aa 10 99511211 99511211 G T SNP ZFYVE27 ENST00000356257 human ensembl 74_37 +1 known missense c.883 p.A295S 1.000 superfamily_Znf_FYVE_PHD pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE27 HGNC ENSG00000155256 tier1 - - 174 0 0.00 31 4 11.43 SMG6 0 genome.wustl.edu 37 17 1968420 1968420 + Missense_Mutation SNP C C T TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f06f79b3-53f9-4c0a-935f-e721ebcada6b b50283e5-96cd-4cf4-a35d-6a07340996aa 17 1968420 1968420 C T SNP SMG6 ENST00000263073 human ensembl 74_37 -1 known missense c.4076 p.C1359Y 1.000 smart_PIN_dom pfam_EST1,smart_PIN_dom - no_errors SMG6 HGNC ENSG00000070366 tier1 - - 102 0 0.00 37 4 9.76 TAF1L 0 genome.wustl.edu 37 9 32635336 32635336 + Missense_Mutation SNP G G A TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f06f79b3-53f9-4c0a-935f-e721ebcada6b b50283e5-96cd-4cf4-a35d-6a07340996aa 9 32635336 32635336 G A SNP TAF1L ENST00000242310 human ensembl 74_37 -1 known missense c.242 p.T81M 1.000 pirsf_TAF1_animal,pfam_TAF_II_230-bd,superfamily_TAF_II_230-bd pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1L HGNC ENSG00000122728 tier1 - - 207 0 0.00 77 10 11.36 TAS1R2 0 genome.wustl.edu 37 1 19181394 19181394 + Silent SNP G G A TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f06f79b3-53f9-4c0a-935f-e721ebcada6b b50283e5-96cd-4cf4-a35d-6a07340996aa 1 19181394 19181394 G A SNP TAS1R2 ENST00000375371 human ensembl 74_37 -1 novel silent c.570 p.H190 0.003 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors TAS1R2 HGNC ENSG00000179002 tier1 - - 73 0 0.00 21 6 22.22 WASH3P 0 genome.wustl.edu 37 15 102515215 102515215 + Splice_Site SNP G G A TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f06f79b3-53f9-4c0a-935f-e721ebcada6b b50283e5-96cd-4cf4-a35d-6a07340996aa 15 102515215 102515215 G A SNP WASH3P ENST00000557932 human ensembl 74_37 +1 known splice_site c.NULL NULL 0.209 - - - no_errors WASH3P HGNC ENSG00000185596 tier1 - - 467 0 0.00 63 8 11.27 PCDHB1 0 genome.wustl.edu 37 5 140431715 140431715 + Silent SNP G G A TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f06f79b3-53f9-4c0a-935f-e721ebcada6b b50283e5-96cd-4cf4-a35d-6a07340996aa 5 140431715 140431715 G A SNP PCDHB1 ENST00000306549 human ensembl 74_37 +1 known silent c.660 p.P220 0.659 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 PCDHB1 HGNC ENSG00000171815 tier1 - - 45 0 0.00 5 4 44.44 LAMB3 0 genome.wustl.edu 37 1 209796433 209796433 + Missense_Mutation SNP C C T TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f06f79b3-53f9-4c0a-935f-e721ebcada6b b50283e5-96cd-4cf4-a35d-6a07340996aa 1 209796433 209796433 C T SNP LAMB3 ENST00000356082 human ensembl 74_37 -1 known missense c.2450 p.R817H 0.799 NULL pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB3 HGNC ENSG00000196878 tier1 - - 99 0 0.00 20 16 44.44 PCDH11Y 0 genome.wustl.edu 37 Y 4925426 4925426 + Missense_Mutation SNP T T A TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f06f79b3-53f9-4c0a-935f-e721ebcada6b b50283e5-96cd-4cf4-a35d-6a07340996aa Y 4925426 4925426 T A SNP PCDH11Y ENST00000215473 human ensembl 74_37 +1 known missense c.562 p.S188T 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH11Y HGNC ENSG00000099715 tier1 - - 71 0 0.00 1 20 95.24 OR4X2 0 genome.wustl.edu 37 11 48267306 48267306 + Silent SNP G G C TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f06f79b3-53f9-4c0a-935f-e721ebcada6b b50283e5-96cd-4cf4-a35d-6a07340996aa 11 48267306 48267306 G C SNP OR4X2 ENST00000302329 human ensembl 74_37 +1 known silent c.651 p.L217 0.126 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4X2 HGNC ENSG00000172208 tier1 - - 52 0 0.00 15 12 44.44 PPIP5K2 0 genome.wustl.edu 37 5 102503855 102503855 + Missense_Mutation SNP G G T TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f06f79b3-53f9-4c0a-935f-e721ebcada6b b50283e5-96cd-4cf4-a35d-6a07340996aa 5 102503855 102503855 G T SNP PPIP5K2 ENST00000358359 human ensembl 74_37 +1 known missense c.2142 p.K714N 1.000 pfam_His_Pase_superF_clade-2 pfam_His_Pase_superF_clade-2 - no_errors PPIP5K2 HGNC ENSG00000145725 tier1 - - 150 0 0.00 35 25 41.67 METTL16 0 genome.wustl.edu 37 17 2310279 2310279 + R SNP G G A TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f06f79b3-53f9-4c0a-935f-e721ebcada6b b50283e5-96cd-4cf4-a35d-6a07340996aa 17 2310279 2310279 G A SNP METTL16 ENST00000571332 human ensembl 74_37 -1 putative rna NULL NULL 0.002 - - - no_errors METTL16 HGNC ENSG00000127804 tier1 - - 83 0 0.00 24 15 38.46 DDX43 0 genome.wustl.edu 37 6 74125300 74125301 + Frame_Shift_Ins INS - - A TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f06f79b3-53f9-4c0a-935f-e721ebcada6b b50283e5-96cd-4cf4-a35d-6a07340996aa 6 74125300 74125301 - A INS DDX43 ENST00000370336 human ensembl 74_37 +1 known frame_shift_ins c.1826_1827 p.N610fs 1.000:1.000 pfscan_Helicase_C pfam_D/R_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_KH_dom_type_1,superfamily_P-loop_NTPase,smart_KH_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_KH_dom_type_1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_R_helicase_DEAD_Q_motif - no_errors DDX43 HGNC ENSG00000080007 tier1 95 0 0.00 23 2 8.00 MMRN1 0 genome.wustl.edu 37 4 90856549 90856549 + Missense_Mutation SNP A A C TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f06f79b3-53f9-4c0a-935f-e721ebcada6b b50283e5-96cd-4cf4-a35d-6a07340996aa 4 90856549 90856549 A C SNP MMRN1 ENST00000264790 human ensembl 74_37 +1 known missense c.1718 p.K573T 1.000 NULL pfam_C1q,pfam_EMI_domain,pfam_EG-like_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C1q,prints_C1q,pfscan_C1q,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors MMRN1 HGNC ENSG00000138722 tier1 - - 24 0 0.00 10 12 54.55 JUP 0 genome.wustl.edu 37 17 39912102 39912103 + Frame_Shift_Ins INS - - GGGGCACATCGCT TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f06f79b3-53f9-4c0a-935f-e721ebcada6b b50283e5-96cd-4cf4-a35d-6a07340996aa 17 39912102 39912103 - GGGGCACATCGCT INS JUP ENST00000310706 human ensembl 74_37 -1 known frame_shift_ins c.2132_2131 p.L711fs 0.999:0.999 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin - no_errors JUP HGNC ENSG00000173801 tier1 TP53 0 genome.wustl.edu 37 17 7579470 7579471 + Frame_Shift_Ins INS - - G TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f06f79b3-53f9-4c0a-935f-e721ebcada6b b50283e5-96cd-4cf4-a35d-6a07340996aa 17 7579470 7579471 - G INS TP53 ENST00000269305 human ensembl 74_37 -1 known frame_shift_ins c.217_216 p.V72fs 0.000:0.001 NULL pfam_p53_D-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_D-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 78 0 0.00 13 33 71.74 SNED1 0 genome.wustl.edu 37 2 241988519 241988519 + Missense_Mutation SNP T T C TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f06f79b3-53f9-4c0a-935f-e721ebcada6b b50283e5-96cd-4cf4-a35d-6a07340996aa 2 241988519 241988519 T C SNP SNED1 ENST00000310397 human ensembl 74_37 +1 known missense c.1585 p.C529R 0.990 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 - - 99 0 0.00 2 8 80.00 IDL 0 genome.wustl.edu 37 1 62253620 62253620 + Silent SNP T T G TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 f06f79b3-53f9-4c0a-935f-e721ebcada6b b50283e5-96cd-4cf4-a35d-6a07340996aa 1 62253620 62253620 T G SNP IDL ENST00000371158 human ensembl 74_37 +1 known silent c.1044 p.T348 0.001 superfamily_PDZ pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_L27,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors IDL HGNC ENSG00000132849 tier1 - - 80 0 0.00 31 26 45.61