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 YPEL5 0 genome.wustl.edu 37 2 30381844 30381844 + R SNP A A C TCGA-DX-A3LY-01B-11D-A27P-09 TCGA-DX-A3LY-10B-01D-A27P-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq df4366c4-170f-4233-b577-a8ea277b069c f1611d3f-a7d1-42ab-b07c-27d0ce090948 2 30381844 30381844 A C SNP YPEL5 ENST00000495673 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors YPEL5 HGNC ENSG00000119801 tier1 - - 24 0 0.00 20 6 23.08 58 0 0.00 41 13 24.07 BRINP3 0 genome.wustl.edu 37 1 190067649 190067649 + Missense_Mutation SNP C C A TCGA-DX-A3LY-01B-11D-A27P-09 TCGA-DX-A3LY-10B-01D-A27P-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq df4366c4-170f-4233-b577-a8ea277b069c f1611d3f-a7d1-42ab-b07c-27d0ce090948 1 190067649 190067649 C A SNP BRINP3 ENST00000367462 human ensembl 74_37 -1 known missense c.1800 p.K600N 0.998 NULL pfam_MACPF,smart_MACPF - no_errors BRINP3 HGNC ENSG00000162670 tier1 - - 47 0 0.00 34 8 19.05 138 1 0.72 142 19 11.80 LCT 0 genome.wustl.edu 37 2 136575110 136575110 + Missense_Mutation SNP G G A TCGA-DX-A3LY-01B-11D-A27P-09 TCGA-DX-A3LY-10B-01D-A27P-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq df4366c4-170f-4233-b577-a8ea277b069c f1611d3f-a7d1-42ab-b07c-27d0ce090948 2 136575110 136575110 G A SNP LCT ENST00000264162 human ensembl 74_37 -1 known missense c.1508 p.A503V 1.000 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors LCT HGNC ENSG00000115850 tier1 - - 39 0 0.00 56 10 15.15 53 0 0.00 44 9 16.98 UNC80 0 genome.wustl.edu 37 2 210795724 210795724 + Silent SNP C C G TCGA-DX-A3LY-01B-11D-A27P-09 TCGA-DX-A3LY-10B-01D-A27P-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq df4366c4-170f-4233-b577-a8ea277b069c f1611d3f-a7d1-42ab-b07c-27d0ce090948 2 210795724 210795724 C G SNP UNC80 ENST00000439458 human ensembl 74_37 +1 known silent c.5742 p.L1914 1.000 NULL NULL - no_errors UNC80 HGNC ENSG00000144406 tier1 - - 37 0 0.00 13 17 56.67 94 0 0.00 32 25 43.86 OR5AR1 0 genome.wustl.edu 37 11 56431448 56431448 + Missense_Mutation SNP G G C TCGA-DX-A3LY-01B-11D-A27P-09 TCGA-DX-A3LY-10B-01D-A27P-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq df4366c4-170f-4233-b577-a8ea277b069c f1611d3f-a7d1-42ab-b07c-27d0ce090948 11 56431448 56431448 G C SNP OR5AR1 ENST00000302969 human ensembl 74_37 +1 known missense c.287 p.S96T 0.048 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5AR1 HGNC ENSG00000172459 tier1 - - 43 0 0.00 29 11 27.50 90 0 0.00 41 17 29.31 ACCSL 0 genome.wustl.edu 37 11 44074988 44074988 + Missense_Mutation SNP C C A TCGA-DX-A3LY-01B-11D-A27P-09 TCGA-DX-A3LY-10B-01D-A27P-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq df4366c4-170f-4233-b577-a8ea277b069c f1611d3f-a7d1-42ab-b07c-27d0ce090948 11 44074988 44074988 C A SNP ACCSL ENST00000378832 human ensembl 74_37 +1 known missense c.981 p.N327K 1.000 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase - no_errors ACCSL HGNC ENSG00000205126 tier1 - - 35 0 0.00 31 17 35.42 99 0 0.00 27 29 51.79 MAML1 0 genome.wustl.edu 37 5 179196021 179196021 + Silent SNP G G A TCGA-DX-A3LY-01B-11D-A27P-09 TCGA-DX-A3LY-10B-01D-A27P-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq df4366c4-170f-4233-b577-a8ea277b069c f1611d3f-a7d1-42ab-b07c-27d0ce090948 5 179196021 179196021 G A SNP MAML1 ENST00000292599 human ensembl 74_37 +1 known silent c.1902 p.R634 1.000 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML1 HGNC ENSG00000161021 tier1 - - 27 0 0.00 128 30 18.99 136 0 0.00 484 104 17.69 SEZ6L 0 genome.wustl.edu 37 22 26747191 26747191 + Missense_Mutation SNP C C T TCGA-DX-A3LY-01B-11D-A27P-09 TCGA-DX-A3LY-10B-01D-A27P-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq df4366c4-170f-4233-b577-a8ea277b069c f1611d3f-a7d1-42ab-b07c-27d0ce090948 22 26747191 26747191 C T SNP SEZ6L ENST00000248933 human ensembl 74_37 +1 known missense c.2581 p.R861C 0.956 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors SEZ6L HGNC ENSG00000100095 tier1 - - 99 1 1.00 66 43 39.45 103 0 0.00 50 24 32.43 ASCC3 0 genome.wustl.edu 37 6 101247339 101247339 + Missense_Mutation SNP T T C TCGA-DX-A3LY-01B-11D-A27P-09 TCGA-DX-A3LY-10B-01D-A27P-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq df4366c4-170f-4233-b577-a8ea277b069c f1611d3f-a7d1-42ab-b07c-27d0ce090948 6 101247339 101247339 T C SNP ASCC3 ENST00000369162 human ensembl 74_37 -1 known missense c.1237 p.M413V 1.000 superfamily_P-loop_NTPase pfam_Sec63-dom,pfam_D/R_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ASCC3 HGNC ENSG00000112249 tier1 - - 47 0 0.00 28 16 36.36 54 0 0.00 32 25 43.86 ENSG00000264151 0 genome.wustl.edu 37 18 24918656 24918656 + R SNP A A G TCGA-DX-A3LY-01B-11D-A27P-09 TCGA-DX-A3LY-10B-01D-A27P-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq df4366c4-170f-4233-b577-a8ea277b069c f1611d3f-a7d1-42ab-b07c-27d0ce090948 18 24918656 24918656 A G SNP ENSG00000264151 ENST00000580699 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-739N10.1 Clone_based_vega_gene ENSG00000264151 tier1 - - 19 0 0.00 10 9 47.37 61 0 0.00 46 14 23.33 ZDHHC15 0 genome.wustl.edu 37 X 74641738 74641738 + Missense_Mutation SNP C C G TCGA-DX-A3LY-01B-11D-A27P-09 TCGA-DX-A3LY-10B-01D-A27P-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq df4366c4-170f-4233-b577-a8ea277b069c f1611d3f-a7d1-42ab-b07c-27d0ce090948 X 74641738 74641738 C G SNP ZDHHC15 ENST00000373367 human ensembl 74_37 -1 known missense c.824 p.G275A 1.000 NULL pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC15 HGNC ENSG00000102383 tier1 - - 31 0 0.00 23 6 20.69 67 0 0.00 38 37 49.33 ACTA2-AS1 0 genome.wustl.edu 37 10 90694720 90694720 + R SNP C C T TCGA-DX-A3LY-01B-11D-A27P-09 TCGA-DX-A3LY-10B-01D-A27P-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq df4366c4-170f-4233-b577-a8ea277b069c f1611d3f-a7d1-42ab-b07c-27d0ce090948 10 90694720 90694720 C T SNP ACTA2-AS1 ENST00000437930 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ACTA2-AS1 HGNC ENSG00000180139 tier1 - - 68 0 0.00 23 32 58.18 70 0 0.00 46 25 35.21 MAML1 0 genome.wustl.edu 37 5 179196072 179196072 + Silent SNP G G A TCGA-DX-A3LY-01B-11D-A27P-09 TCGA-DX-A3LY-10B-01D-A27P-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq df4366c4-170f-4233-b577-a8ea277b069c f1611d3f-a7d1-42ab-b07c-27d0ce090948 5 179196072 179196072 G A SNP MAML1 ENST00000292599 human ensembl 74_37 +1 known silent c.1953 p.Q651 1.000 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML1 HGNC ENSG00000161021 tier1 - - 20 0 0.00 102 22 17.74 93 0 0.00 394 77 16.31 OSBPL8 0 genome.wustl.edu 37 12 76844722 76844722 + Missense_Mutation SNP C C G TCGA-DX-A3LY-01B-11D-A27P-09 TCGA-DX-A3LY-10B-01D-A27P-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq df4366c4-170f-4233-b577-a8ea277b069c f1611d3f-a7d1-42ab-b07c-27d0ce090948 12 76844722 76844722 C G SNP OSBPL8 ENST00000261183 human ensembl 74_37 -1 known missense c.126 p.K42N 1.000 NULL pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL8 HGNC ENSG00000091039 tier1 - - 63 0 0.00 63 193 75.10 87 0 0.00 52 193 78.46 WEE2-AS1 0 genome.wustl.edu 37 7 141427061 141427061 + R SNP T T G TCGA-DX-A3LY-01B-11D-A27P-09 TCGA-DX-A3LY-10B-01D-A27P-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq df4366c4-170f-4233-b577-a8ea277b069c f1611d3f-a7d1-42ab-b07c-27d0ce090948 7 141427061 141427061 T G SNP WEE2-AS1 ENST00000478332 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors WEE2-AS1 HGNC ENSG00000228775 tier1 - - 85 0 0.00 19 19 50.00 149 0 0.00 38 52 57.78 KRCC1 0 genome.wustl.edu 37 2 88327569 88327569 + Nonsense_Mutation SNP C C A TCGA-DX-A3LY-01B-11D-A27P-09 TCGA-DX-A3LY-10B-01D-A27P-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq df4366c4-170f-4233-b577-a8ea277b069c f1611d3f-a7d1-42ab-b07c-27d0ce090948 2 88327569 88327569 C A SNP KRCC1 ENST00000347055 human ensembl 74_37 -1 known nonsense c.514 p.E172* 0.001 NULL NULL - no_errors KRCC1 HGNC ENSG00000172086 tier1 - - 48 0 0.00 52 5 8.77 120 0 0.00 72 14 16.28 AGO4 0 genome.wustl.edu 37 1 36316471 36316471 + Nonsense_Mutation SNP C C A TCGA-DX-A3LY-01B-11D-A27P-09 TCGA-DX-A3LY-10B-01D-A27P-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq df4366c4-170f-4233-b577-a8ea277b069c f1611d3f-a7d1-42ab-b07c-27d0ce090948 1 36316471 36316471 C A SNP AGO4 ENST00000373210 human ensembl 74_37 +1 known nonsense c.2294 p.S765* 1.000 pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi pfam_Piwi,pfam_PAZ_dom,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors AGO4 HGNC ENSG00000134698 tier1 - - 53 0 0.00 37 4 9.76 84 1 1.18 48 12 20.00 XIRP2 0 genome.wustl.edu 37 2 167760312 167760312 + Missense_Mutation SNP T T C TCGA-DX-A3LY-01B-11D-A27P-09 TCGA-DX-A3LY-10B-01D-A27P-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq df4366c4-170f-4233-b577-a8ea277b069c f1611d3f-a7d1-42ab-b07c-27d0ce090948 2 167760312 167760312 T C SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known missense c.320 p.I107T 0.942 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 tier1 - - 68 0 0.00 35 7 16.67 85 0 0.00 61 21 25.61 BP2 0 genome.wustl.edu 37 12 56618715 56618715 + Silent SNP G G A TCGA-DX-A3LY-01B-11D-A27P-09 TCGA-DX-A3LY-10B-01D-A27P-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq df4366c4-170f-4233-b577-a8ea277b069c f1611d3f-a7d1-42ab-b07c-27d0ce090948 12 56618715 56618715 G A SNP BP2 ENST00000267023 human ensembl 74_37 +1 known silent c.75 p.E25 1.000 superfamily_-bd_OB-fold pfam_-bd_OB_tR,superfamily_-bd_OB-fold - no_errors BP2 HGNC ENSG00000139579 tier1 - - 38 0 0.00 22 30 57.69 67 0 0.00 55 39 41.49 LRRFIP1 0 genome.wustl.edu 37 2 238667417 238667417 + Missense_Mutation SNP C C G TCGA-DX-A3LY-01B-11D-A27P-09 TCGA-DX-A3LY-10B-01D-A27P-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq df4366c4-170f-4233-b577-a8ea277b069c f1611d3f-a7d1-42ab-b07c-27d0ce090948 2 238667417 238667417 C G SNP LRRFIP1 ENST00000308482 human ensembl 74_37 +1 putative missense c.1270 p.R424G 1.000 pfam_Leu-rich_rep_flightless-int_pr,superfamily_Prefoldin pfam_Leu-rich_rep_flightless-int_pr,superfamily_Prefoldin - no_errors LRRFIP1 HGNC ENSG00000124831 tier1 - - 46 0 0.00 25 15 37.50 117 0 0.00 105 32 23.36 MAML1 0 genome.wustl.edu 37 5 179195930 179195930 + Missense_Mutation SNP G G A TCGA-DX-A3LY-01B-11D-A27P-09 TCGA-DX-A3LY-10B-01D-A27P-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq df4366c4-170f-4233-b577-a8ea277b069c f1611d3f-a7d1-42ab-b07c-27d0ce090948 5 179195930 179195930 G A SNP MAML1 ENST00000292599 human ensembl 74_37 +1 known missense c.1811 p.S604N 0.998 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML1 HGNC ENSG00000161021 tier1 - - 38 0 0.00 179 55 23.50 105 0 0.00 364 83 18.44 TAF1L 0 genome.wustl.edu 37 9 32634701 32634701 + Missense_Mutation SNP G G T TCGA-DX-A3LY-01B-11D-A27P-09 TCGA-DX-A3LY-10B-01D-A27P-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq df4366c4-170f-4233-b577-a8ea277b069c f1611d3f-a7d1-42ab-b07c-27d0ce090948 9 32634701 32634701 G T SNP TAF1L ENST00000242310 human ensembl 74_37 -1 known missense c.877 p.Q293K 1.000 pirsf_TAF1_animal 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 - - 82 0 0.00 49 14 22.22 104 0 0.00 31 6 16.22 TET2 0 genome.wustl.edu 37 4 106158294 106158294 + Missense_Mutation SNP G G T TCGA-DX-A3LY-01B-11D-A27P-09 TCGA-DX-A3LY-10B-01D-A27P-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq df4366c4-170f-4233-b577-a8ea277b069c f1611d3f-a7d1-42ab-b07c-27d0ce090948 4 106158294 106158294 G T SNP TET2 ENST00000380013 human ensembl 74_37 +1 known missense c.3195 p.L1065F 0.233 NULL NULL - no_errors TET2 HGNC ENSG00000168769 tier1 - - 19 0 0.00 10 7 41.18 84 0 0.00 74 20 21.28 NXF4 0 genome.wustl.edu 37 X 101820660 101820660 + R SNP C C T TCGA-DX-A3LY-01B-11D-A27P-09 TCGA-DX-A3LY-10B-01D-A27P-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq df4366c4-170f-4233-b577-a8ea277b069c f1611d3f-a7d1-42ab-b07c-27d0ce090948 X 101820660 101820660 C T SNP NXF4 ENST00000360035 human ensembl 74_37 +1 known rna NULL NULL 0.929 - - - no_errors NXF4 HGNC ENSG00000196970 tier1 - - 44 0 0.00 63 79 55.63 43 0 0.00 39 77 66.38 SNX17 0 genome.wustl.edu 37 2 27599243 27599243 + Missense_Mutation SNP C C T TCGA-DX-A3LY-01B-11D-A27P-09 TCGA-DX-A3LY-10B-01D-A27P-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq df4366c4-170f-4233-b577-a8ea277b069c f1611d3f-a7d1-42ab-b07c-27d0ce090948 2 27599243 27599243 C T SNP SNX17 ENST00000233575 human ensembl 74_37 +1 known missense c.1246 p.P416S 1.000 NULL pfam_Phox,superfamily_Phox,superfamily_FERM_central,smart_Phox,pfscan_Phox,pfscan_Ras-assoc - no_errors SNX17 HGNC ENSG00000115234 tier1 - - 32 0 0.00 22 6 21.43 40 0 0.00 35 11 23.91 RPL36A 0 genome.wustl.edu 37 X 100646802 100646802 + Missense_Mutation SNP C C T TCGA-DX-A3LY-01B-11D-A27P-09 TCGA-DX-A3LY-10B-01D-A27P-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq df4366c4-170f-4233-b577-a8ea277b069c f1611d3f-a7d1-42ab-b07c-27d0ce090948 X 100646802 100646802 C T SNP RPL36A ENST00000427805 human ensembl 74_37 +1 known missense c.277 p.R93W 0.999 pfam_Ribosomal_L44e,superfamily_Ribosomal_zn-bd pfam_Ribosomal_L44e,superfamily_Ribosomal_zn-bd - no_errors RPL36A HGNC ENSG00000241343 tier1 - - 24 0 0.00 9 16 64.00 82 0 0.00 28 23 45.10 IRAK1 0 genome.wustl.edu 37 X 153276177 153276177 + R SNP C C T TCGA-DX-A3LY-01B-11D-A27P-09 TCGA-DX-A3LY-10B-01D-A27P-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq df4366c4-170f-4233-b577-a8ea277b069c f1611d3f-a7d1-42ab-b07c-27d0ce090948 X 153276177 153276177 C T SNP IRAK1 ENST00000477274 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors IRAK1 HGNC ENSG00000184216 tier1 - - 12 0 0.00 49 11 18.33 14 0 0.00 150 27 15.25 EMCN 0 genome.wustl.edu 37 4 101368702 101368702 + Missense_Mutation SNP T T C TCGA-DX-A3LY-01B-11D-A27P-09 TCGA-DX-A3LY-10B-01D-A27P-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq df4366c4-170f-4233-b577-a8ea277b069c f1611d3f-a7d1-42ab-b07c-27d0ce090948 4 101368702 101368702 T C SNP EMCN ENST00000296420 human ensembl 74_37 -1 known missense c.403 p.T135A 0.001 pfam_Endomucin pfam_Endomucin - no_errors EMCN HGNC ENSG00000164035 tier1 - - 40 0 0.00 20 8 28.57 58 0 0.00 24 16 40.00 ST6GALC3 0 genome.wustl.edu 37 1 76877795 76877795 + Missense_Mutation SNP A A G TCGA-DX-A3LY-01B-11D-A27P-09 TCGA-DX-A3LY-10B-01D-A27P-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq df4366c4-170f-4233-b577-a8ea277b069c f1611d3f-a7d1-42ab-b07c-27d0ce090948 1 76877795 76877795 A G SNP ST6GALC3 ENST00000328299 human ensembl 74_37 +1 known missense c.316 p.R106G 1.000 pfam_Glyco_trans_29 pfam_Glyco_trans_29 - no_errors ST6GALC3 HGNC ENSG00000184005 tier1 - - 51 0 0.00 44 35 44.30 121 0 0.00 74 39 34.51 BP2 0 genome.wustl.edu 37 12 56618713 56618713 + Missense_Mutation SNP G G A TCGA-DX-A3LY-01B-11D-A27P-09 TCGA-DX-A3LY-10B-01D-A27P-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq df4366c4-170f-4233-b577-a8ea277b069c f1611d3f-a7d1-42ab-b07c-27d0ce090948 12 56618713 56618713 G A SNP BP2 ENST00000267023 human ensembl 74_37 +1 known missense c.73 p.E25K 1.000 superfamily_-bd_OB-fold pfam_-bd_OB_tR,superfamily_-bd_OB-fold - no_errors BP2 HGNC ENSG00000139579 tier1 - - 38 0 0.00 23 32 58.18 67 0 0.00 57 39 40.62 MMP27 0 genome.wustl.edu 37 11 102573792 102573792 + Missense_Mutation SNP T T A TCGA-DX-A3LY-01B-11D-A27P-09 TCGA-DX-A3LY-10B-01D-A27P-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq df4366c4-170f-4233-b577-a8ea277b069c f1611d3f-a7d1-42ab-b07c-27d0ce090948 11 102573792 102573792 T A SNP MMP27 ENST00000260229 human ensembl 74_37 -1 known missense c.399 p.E133D 0.410 pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A - no_errors MMP27 HGNC ENSG00000137675 tier1 - - 35 0 0.00 18 9 33.33 125 0 0.00 95 17 15.18 KRT78 0 genome.wustl.edu 37 12 53237971 53237971 + Missense_Mutation SNP T T A TCGA-DX-A3LY-01B-11D-A27P-09 TCGA-DX-A3LY-10B-01D-A27P-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq df4366c4-170f-4233-b577-a8ea277b069c f1611d3f-a7d1-42ab-b07c-27d0ce090948 12 53237971 53237971 T A SNP KRT78 ENST00000304620 human ensembl 74_37 -1 known missense c.953 p.H318L 0.024 pfam_IF,prints_Keratin_II pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT78 HGNC ENSG00000170423 tier1 - - 51 0 0.00 37 9 19.57 82 0 0.00 59 18 23.38 TKTL2 0 genome.wustl.edu 37 4 164393216 164393216 + Silent SNP G G T TCGA-DX-A3LY-01B-11D-A27P-09 TCGA-DX-A3LY-10B-01D-A27P-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq df4366c4-170f-4233-b577-a8ea277b069c f1611d3f-a7d1-42ab-b07c-27d0ce090948 4 164393216 164393216 G T SNP TKTL2 ENST00000280605 human ensembl 74_37 -1 known silent c.1671 p.G557 0.470 pfam_Transketolase_C,superfamily_Transketo_C/Pyr-ferredox_oxred pfam_Transketolase_N,pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,pfam_DH_E1,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd - no_errors TKTL2 HGNC ENSG00000151005 tier1 - - 55 0 0.00 39 38 49.35 111 0 0.00 60 48 44.44 OSBPL8 0 genome.wustl.edu 37 12 76844700 76844700 + Missense_Mutation SNP C C G TCGA-DX-A3LY-01B-11D-A27P-09 TCGA-DX-A3LY-10B-01D-A27P-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq df4366c4-170f-4233-b577-a8ea277b069c f1611d3f-a7d1-42ab-b07c-27d0ce090948 12 76844700 76844700 C G SNP OSBPL8 ENST00000261183 human ensembl 74_37 -1 known missense c.148 p.E50Q 1.000 NULL pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL8 HGNC ENSG00000091039 tier1 - - 61 0 0.00 72 221 75.43 96 0 0.00 58 208 78.20 AGO4 0 genome.wustl.edu 37 1 36316629 36316629 + Missense_Mutation SNP C C A TCGA-DX-A3LY-01B-11D-A27P-09 TCGA-DX-A3LY-10B-01D-A27P-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq df4366c4-170f-4233-b577-a8ea277b069c f1611d3f-a7d1-42ab-b07c-27d0ce090948 1 36316629 36316629 C A SNP AGO4 ENST00000373210 human ensembl 74_37 +1 known missense c.2452 p.H818N 1.000 pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi pfam_Piwi,pfam_PAZ_dom,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors AGO4 HGNC ENSG00000134698 tier1 - - 38 0 0.00 32 5 13.51 93 0 0.00 93 14 13.08 ADAMTS18 0 genome.wustl.edu 37 16 77325207 77325207 + Missense_Mutation SNP C C A TCGA-DX-A3LY-01B-11D-A27P-09 TCGA-DX-A3LY-10B-01D-A27P-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq df4366c4-170f-4233-b577-a8ea277b069c f1611d3f-a7d1-42ab-b07c-27d0ce090948 16 77325207 77325207 C A SNP ADAMTS18 ENST00000282849 human ensembl 74_37 -1 known missense c.3358 p.V1120L 0.001 superfamily_Thrombospondin_1_rpt pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS18 HGNC ENSG00000140873 tier1 rs199845592 - 50 0 0.00 35 10 22.22 91 0 0.00 40 15 27.27 SNX17 0 genome.wustl.edu 37 2 27599044 27599044 + Silent SNP C C T TCGA-DX-A3LY-01B-11D-A27P-09 TCGA-DX-A3LY-10B-01D-A27P-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq df4366c4-170f-4233-b577-a8ea277b069c f1611d3f-a7d1-42ab-b07c-27d0ce090948 2 27599044 27599044 C T SNP SNX17 ENST00000233575 human ensembl 74_37 +1 known silent c.1176 p.I392 1.000 NULL pfam_Phox,superfamily_Phox,superfamily_FERM_central,smart_Phox,pfscan_Phox,pfscan_Ras-assoc - no_errors SNX17 HGNC ENSG00000115234 tier1 - - 28 0 0.00 27 8 22.86 80 0 0.00 84 18 17.65 CAMTA1 0 genome.wustl.edu 37 1 7723936 7723936 + Silent SNP C C T TCGA-DX-A3LY-01B-11D-A27P-09 TCGA-DX-A3LY-10B-01D-A27P-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq df4366c4-170f-4233-b577-a8ea277b069c f1611d3f-a7d1-42ab-b07c-27d0ce090948 1 7723936 7723936 C T SNP CAMTA1 ENST00000303635 human ensembl 74_37 +1 known silent c.1329 p.A443 1.000 NULL pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA1 HGNC ENSG00000171735 tier1 - - 58 0 0.00 42 14 25.00 24 0 0.00 14 4 22.22 GTF3C1 0 genome.wustl.edu 37 16 27509985 27509985 + Missense_Mutation SNP G G A TCGA-DX-A3LY-01B-11D-A27P-09 TCGA-DX-A3LY-10B-01D-A27P-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq df4366c4-170f-4233-b577-a8ea277b069c f1611d3f-a7d1-42ab-b07c-27d0ce090948 16 27509985 27509985 G A SNP GTF3C1 ENST00000356183 human ensembl 74_37 -1 known missense c.2131 p.R711C 0.999 NULL pfam_TFIIIC_Bblock-bd - no_errors GTF3C1 HGNC ENSG00000077235 tier1 - - 49 0 0.00 40 6 13.04 92 0 0.00 45 12 21.05 MTMR12 0 genome.wustl.edu 37 5 32248179 32248179 + Missense_Mutation SNP A A T TCGA-DX-A3LY-01B-11D-A27P-09 TCGA-DX-A3LY-10B-01D-A27P-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq df4366c4-170f-4233-b577-a8ea277b069c f1611d3f-a7d1-42ab-b07c-27d0ce090948 5 32248179 32248179 A T SNP MTMR12 ENST00000382142 human ensembl 74_37 -1 known missense c.950 p.L317Q 0.781 NULL pfam_Myotubularin_assoc - no_errors MTMR12 HGNC ENSG00000150712 tier1 - - 38 0 0.00 24 34 58.62 101 0 0.00 66 91 57.96 BCR 0 genome.wustl.edu 37 22 23626245 23626245 + Missense_Mutation SNP G G T TCGA-DX-A3LY-01B-11D-A27P-09 TCGA-DX-A3LY-10B-01D-A27P-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq df4366c4-170f-4233-b577-a8ea277b069c f1611d3f-a7d1-42ab-b07c-27d0ce090948 22 23626245 23626245 G T SNP BCR ENST00000305877 human ensembl 74_37 +1 known missense c.2197 p.D733Y 0.997 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RhoGAP_dom,pfam_Bcr-Abl_oncoprot_oligo,pfam_DH-domain,pfam_C2_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_Bcr-Abl_oncoprot_oligo,superfamily_C2_dom,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,smart_RhoGAP_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain - no_errors BCR HGNC ENSG00000186716 tier1 - - 68 0 0.00 43 33 43.42 33 0 0.00 23 11 32.35 PPFIBP2 0 genome.wustl.edu 37 11 7670079 7670079 + Frame_Shift_Del DEL G G - TCGA-DX-A3LY-01B-11D-A27P-09 TCGA-DX-A3LY-10B-01D-A27P-09 G G G - G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq df4366c4-170f-4233-b577-a8ea277b069c f1611d3f-a7d1-42ab-b07c-27d0ce090948 11 7670079 7670079 G - DEL PPFIBP2 ENST00000299492 human ensembl 74_37 +1 known frame_shift_del c.1846 p.V616fs 0.985 pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_SAM_2,pfam_SAM_type1,pfam_Integrase_Tn916-type_D-bd_N,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIBP2 HGNC ENSG00000166387 tier1 15 0 0.00 12 8 40.00 129 0 0.00 100 17 14.53 METTL1 0 genome.wustl.edu 37 12 58164954 58164954 + Frame_Shift_Del DEL G G - TCGA-DX-A3LY-01B-11D-A27P-09 TCGA-DX-A3LY-10B-01D-A27P-09 G G G - G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq df4366c4-170f-4233-b577-a8ea277b069c f1611d3f-a7d1-42ab-b07c-27d0ce090948 12 58164954 58164954 G - DEL METTL1 ENST00000324871 human ensembl 74_37 -1 known frame_shift_del c.197 p.P66fs 1.000 pfam_tR_(Gua-N-7)_MeTrfase pfam_tR_(Gua-N-7)_MeTrfase,tigrfam_tR_(Gua-N-7)_MeTrfase - no_errors METTL1 HGNC ENSG00000037897 tier1 106 0 0.00 157 29 15.59 44 0 0.00 54 9 14.29 KRT8 0 genome.wustl.edu 37 12 53292604 53292604 + Missense_Mutation SNP G G T TCGA-DX-A3LY-01B-11D-A27P-09 TCGA-DX-A3LY-10B-01D-A27P-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq df4366c4-170f-4233-b577-a8ea277b069c f1611d3f-a7d1-42ab-b07c-27d0ce090948 12 53292604 53292604 G T SNP KRT8 ENST00000293308 human ensembl 74_37 -1 known missense c.1061 p.S354Y 0.035 pfam_IF,prints_Keratin_II,prints_Keratin_I pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT8 HGNC ENSG00000170421 tier1 - - 55 0 0.00 42 14 25.00 6 0 0.00 2 3 60.00 LRTM2 0 genome.wustl.edu 37 12 1943689 1943689 + Silent SNP G G A TCGA-DX-A3LY-01B-11D-A27P-09 TCGA-DX-A3LY-10B-01D-A27P-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq df4366c4-170f-4233-b577-a8ea277b069c f1611d3f-a7d1-42ab-b07c-27d0ce090948 12 1943689 1943689 G A SNP LRTM2 ENST00000299194 human ensembl 74_37 +1 known silent c.915 p.R305 0.996 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRTM2 HGNC ENSG00000166159 tier1 - - 40 0 0.00 31 29 48.33 14 0 0.00 5 2 28.57 SPECC1 0 genome.wustl.edu 37 17 20000011 20000011 + Missense_Mutation SNP G G A TCGA-DX-A3LY-01B-11D-A27P-09 TCGA-DX-A3LY-10B-01D-A27P-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq df4366c4-170f-4233-b577-a8ea277b069c f1611d3f-a7d1-42ab-b07c-27d0ce090948 17 20000011 20000011 G A SNP SPECC1 ENST00000261503 human ensembl 74_37 +1 known missense c.47 p.G16D 0.925 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SPECC1 HGNC ENSG00000128487 tier1 - - 50 0 0.00 43 24 35.82 13 0 0.00 9 8 47.06 PAPPA2 0 genome.wustl.edu 37 1 176525573 176525573 + Missense_Mutation SNP C C A TCGA-DX-A3LY-01B-11D-A27P-09 TCGA-DX-A3LY-10B-01D-A27P-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq df4366c4-170f-4233-b577-a8ea277b069c f1611d3f-a7d1-42ab-b07c-27d0ce090948 1 176525573 176525573 C A SNP PAPPA2 ENST00000367662 human ensembl 74_37 +1 known missense c.115 p.H39N 0.045 NULL pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA2 HGNC ENSG00000116183 tier1 - - 67 0 0.00 86 13 13.13 113 0 0.00 133 14 9.52 COX20 0 genome.wustl.edu 37 1 245005524 245005524 + Missense_Mutation SNP G G C TCGA-DX-A3LY-01B-11D-A27P-09 TCGA-DX-A3LY-10B-01D-A27P-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq df4366c4-170f-4233-b577-a8ea277b069c f1611d3f-a7d1-42ab-b07c-27d0ce090948 1 245005524 245005524 G C SNP COX20 ENST00000411948 human ensembl 74_37 +1 known missense c.185 p.G62A 1.000 pfam_Cox20/FAM36A,prints_FAM36A pfam_Cox20/FAM36A,prints_FAM36A - no_errors COX20 HGNC ENSG00000203667 tier1 - - 45 0 0.00 27 4 12.90 111 0 0.00 83 9 9.78 EGR1 0 genome.wustl.edu 37 5 137801710 137801710 + Missense_Mutation SNP A A C TCGA-DX-A3LY-01B-11D-A27P-09 TCGA-DX-A3LY-10B-01D-A27P-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df4366c4-170f-4233-b577-a8ea277b069c f1611d3f-a7d1-42ab-b07c-27d0ce090948 5 137801710 137801710 A C SNP EGR1 ENST00000239938 human ensembl 74_37 +1 known missense c.260 p.N87T 0.997 NULL pfam_DUF3432,pfam_DUF3446,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors EGR1 HGNC ENSG00000120738 tier1 - - 45 0 0.00 60 14 18.92 7 0 0.00 8 0 0.00 ATXN3 0 genome.wustl.edu 37 14 92537357 92537358 + In_Frame_Ins INS - - CTGCTGCTGCTGCTGCTG TCGA-DX-A3LY-01B-11D-A27P-09 TCGA-DX-A3LY-10B-01D-A27P-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df4366c4-170f-4233-b577-a8ea277b069c f1611d3f-a7d1-42ab-b07c-27d0ce090948 14 92537357 92537358 - CTGCTGCTGCTGCTGCTG INS ATXN3 ENST00000545170 human ensembl 74_37 -1 known in_frame_ins c.940_939 p.314in_frame_insQQQQQQ 0.831:0.984 NULL pfam_Josephin,pfam_Ubiquitin-int_motif,smart_Ubiquitin-int_motif,pfscan_Josephin,pfscan_Ubiquitin-int_motif,prints_Josephin - no_errors ATXN3 HGNC ENSG00000066427 tier1 3 0 0.00 2 0 0.00 3 0 0.00 2 0 0.00 FAM230B 0 genome.wustl.edu 37 22 21538275 21538275 + R SNP C C T TCGA-DX-A3LY-01B-11D-A27P-09 TCGA-DX-A3LY-10B-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df4366c4-170f-4233-b577-a8ea277b069c f1611d3f-a7d1-42ab-b07c-27d0ce090948 22 21538275 21538275 C T SNP FAM230B ENST00000451257 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors FAM230B HGNC ENSG00000215498 tier1 - - 18 0 0.00 22 5 18.52 0 0 0.00 0 0 0.00 KIF26A 0 genome.wustl.edu 37 14 104640551 104640551 + Silent SNP C C T TCGA-DX-A3LY-01B-11D-A27P-09 TCGA-DX-A3LY-10B-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df4366c4-170f-4233-b577-a8ea277b069c f1611d3f-a7d1-42ab-b07c-27d0ce090948 14 104640551 104640551 C T SNP KIF26A ENST00000423312 human ensembl 74_37 +1 known silent c.2097 p.I699 0.834 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF26A HGNC ENSG00000066735 tier1 - - 75 0 0.00 56 33 37.08 0 0 0.00 5 0 0.00 ARID1B 0 genome.wustl.edu 37 6 157099426 157099427 + In_Frame_Ins INS - - CAGCAG TCGA-DX-A3LY-01B-11D-A27P-09 TCGA-DX-A3LY-10B-01D-A27P-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df4366c4-170f-4233-b577-a8ea277b069c f1611d3f-a7d1-42ab-b07c-27d0ce090948 6 157099426 157099427 - CAGCAG INS ARID1B ENST00000367148 human ensembl 74_37 +1 known in_frame_ins c.363_364 p.125in_frame_insQQ 0.847:0.974 NULL pfam_DUF3518,pfam_ARID/BRIGHT_D-bd,superfamily_ARID/BRIGHT_D-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_D-bd,pfscan_ARID/BRIGHT_D-bd - no_errors ARID1B HGNC ENSG00000049618 tier1 0 0 0.00 3 2 40.00 0 0 0.00 3 2 40.00 TMC6 0 genome.wustl.edu 37 17 76113990 76113990 + Silent SNP C C T TCGA-DX-A3LY-01B-11D-A27P-09 TCGA-DX-A3LY-10B-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df4366c4-170f-4233-b577-a8ea277b069c f1611d3f-a7d1-42ab-b07c-27d0ce090948 17 76113990 76113990 C T SNP TMC6 ENST00000322914 human ensembl 74_37 -1 known silent c.1914 p.A638 0.558 pfam_TMC pfam_TMC - no_errors TMC6 HGNC ENSG00000141524 tier1 - - 22 0 0.00 15 14 46.67 2 0 0.00 1 3 75.00 ASAP2 0 genome.wustl.edu 37 2 9496213 9496213 + Silent SNP G G A TCGA-DX-A3LY-01B-11D-A27P-09 TCGA-DX-A3LY-10B-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df4366c4-170f-4233-b577-a8ea277b069c f1611d3f-a7d1-42ab-b07c-27d0ce090948 2 9496213 9496213 G A SNP ASAP2 ENST00000281419 human ensembl 74_37 +1 known silent c.1149 p.Q383 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology 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 - - 63 0 0.00 48 12 20.00 147 0 0.00 89 3 3.26 CWC22 0 genome.wustl.edu 37 2 180819049 180819049 + Silent SNP G G T TCGA-DX-A3LY-01B-11D-A27P-09 TCGA-DX-A3LY-10B-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df4366c4-170f-4233-b577-a8ea277b069c f1611d3f-a7d1-42ab-b07c-27d0ce090948 2 180819049 180819049 G T SNP CWC22 ENST00000295749 human ensembl 74_37 -1 known silent c.1572 p.S524 0.886 pfam_Initiation_fac_eIF4g_MI,smart_Initiation_fac_eIF4g_MI pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI - no_errors CWC22 HGNC ENSG00000163510 tier1 - - 40 0 0.00 27 4 12.90 124 0 0.00 71 2 2.70 SLC26A7 0 genome.wustl.edu 37 8 92407428 92407428 + R SNP C C G TCGA-DX-A3LY-01B-11D-A27P-09 TCGA-DX-A3LY-10B-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df4366c4-170f-4233-b577-a8ea277b069c f1611d3f-a7d1-42ab-b07c-27d0ce090948 8 92407428 92407428 C G SNP SLC26A7 ENST00000520249 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors SLC26A7 HGNC ENSG00000147606 tier1 - - 40 0 0.00 28 6 17.65 102 0 0.00 65 2 2.99