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 ZFHX4 0 genome.wustl.edu 37 8 77767256 77767256 + Missense_Mutation SNP A A G TCGA-DX-AB2X-01A-11D-A387-09 TCGA-DX-AB2X-10A-01D-A38A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e974c2c7-3bb3-487c-b408-70d51608c374 afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855 8 77767256 77767256 A G SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known missense c.8099 p.N2700S 1.000 pfscan_Znf_C2H2 pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 tier1 - - 52 0 0.00 76 34 30.91 105 1 0.94 135 48 26.09 CPAMD8 0 genome.wustl.edu 37 19 17036138 17036138 + Missense_Mutation SNP G G A TCGA-DX-AB2X-01A-11D-A387-09 TCGA-DX-AB2X-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e974c2c7-3bb3-487c-b408-70d51608c374 afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855 19 17036138 17036138 G A SNP CPAMD8 ENST00000443236 human ensembl 74_37 -1 known missense c.3556 p.R1186W 0.983 pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal_dom,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Kazal_dom - no_errors CPAMD8 HGNC ENSG00000160111 tier1 - - 78 0 0.00 17 25 59.52 126 0 0.00 22 99 81.82 TTF1 0 genome.wustl.edu 37 9 135267466 135267466 + Missense_Mutation SNP T T G TCGA-DX-AB2X-01A-11D-A387-09 TCGA-DX-AB2X-10A-01D-A38A-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e974c2c7-3bb3-487c-b408-70d51608c374 afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855 9 135267466 135267466 T G SNP TTF1 ENST00000334270 human ensembl 74_37 -1 known missense c.1984 p.S662R 0.000 superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors TTF1 HGNC ENSG00000125482 tier1 - - 52 0 0.00 30 16 34.78 60 0 0.00 45 23 33.82 SMURF1 0 genome.wustl.edu 37 7 98633223 98633223 + Silent SNP C C A TCGA-DX-AB2X-01A-11D-A387-09 TCGA-DX-AB2X-10A-01D-A38A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e974c2c7-3bb3-487c-b408-70d51608c374 afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855 7 98633223 98633223 C A SNP SMURF1 ENST00000361125 human ensembl 74_37 -1 known silent c.2004 p.T668 0.954 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors SMURF1 HGNC ENSG00000198742 tier1 - - 56 0 0.00 10 28 73.68 63 0 0.00 27 64 68.82 MGEA5 0 genome.wustl.edu 37 10 103558659 103558659 + Silent SNP T T C TCGA-DX-AB2X-01A-11D-A387-09 TCGA-DX-AB2X-10A-01D-A38A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e974c2c7-3bb3-487c-b408-70d51608c374 afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855 10 103558659 103558659 T C SNP MGEA5 ENST00000361464 human ensembl 74_37 -1 known silent c.1749 p.Q583 1.000 NULL pfam_Beta-N-acetylglucosaminidase,superfamily_Glycoside_hydrolase_SF,superfamily_Acyl_CoA_acyltransferase - no_errors MGEA5 HGNC ENSG00000198408 tier1 - - 49 0 0.00 35 42 54.55 111 0 0.00 61 69 53.08 SHOX 0 genome.wustl.edu 37 X 601772 601772 + Nonsense_Mutation SNP C C T TCGA-DX-AB2X-01A-11D-A387-09 TCGA-DX-AB2X-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e974c2c7-3bb3-487c-b408-70d51608c374 afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855 X 601772 601772 C T SNP SHOX ENST00000381578 human ensembl 74_37 +1 known nonsense c.583 p.R195* 1.000 NULL pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom,prints_HTH_motif - no_errors SHOX HGNC ENSG00000185960 tier1 - - 146 0 0.00 60 34 36.17 88 0 0.00 61 15 19.74 RXRA 0 genome.wustl.edu 37 9 137330534 137330534 + R SNP G G C TCGA-DX-AB2X-01A-11D-A387-09 TCGA-DX-AB2X-10A-01D-A38A-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e974c2c7-3bb3-487c-b408-70d51608c374 afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855 9 137330534 137330534 G C SNP RXRA ENST00000356384 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RXRA HGNC ENSG00000186350 tier1 - - 208 0 0.00 68 85 55.19 95 0 0.00 39 32 45.07 ATRX 0 genome.wustl.edu 37 X 76849184 76849184 + Missense_Mutation SNP T T A TCGA-DX-AB2X-01A-11D-A387-09 TCGA-DX-AB2X-10A-01D-A38A-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e974c2c7-3bb3-487c-b408-70d51608c374 afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855 X 76849184 76849184 T A SNP ATRX ENST00000373344 human ensembl 74_37 -1 known missense c.6092 p.E2031V 1.000 superfamily_P-loop_NTPase,pfscan_Helicase_C 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 - - 91 0 0.00 79 51 39.23 86 0 0.00 29 27 48.21 LY6G6F 0 genome.wustl.edu 37 6 31675750 31675750 + Missense_Mutation SNP G G C TCGA-DX-AB2X-01A-11D-A387-09 TCGA-DX-AB2X-10A-01D-A38A-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e974c2c7-3bb3-487c-b408-70d51608c374 afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855 6 31675750 31675750 G C SNP LY6G6F ENST00000556581 human ensembl 74_37 +1 known missense c.485 p.G162A 0.991 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors LY6G6F HGNC ENSG00000204424 tier1 - - 55 0 0.00 26 18 40.91 52 0 0.00 18 14 43.75 OR51Q1 0 genome.wustl.edu 37 11 5444355 5444355 + Missense_Mutation SNP C C T TCGA-DX-AB2X-01A-11D-A387-09 TCGA-DX-AB2X-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e974c2c7-3bb3-487c-b408-70d51608c374 afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855 11 5444355 5444355 C T SNP OR51Q1 ENST00000300778 human ensembl 74_37 +1 known missense c.925 p.L309F 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51Q1 HGNC ENSG00000167360 tier1 - - 23 0 0.00 10 5 33.33 72 0 0.00 27 14 34.15 ZMYM3 0 genome.wustl.edu 37 X 70469941 70469941 + Missense_Mutation SNP G G A TCGA-DX-AB2X-01A-11D-A387-09 TCGA-DX-AB2X-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e974c2c7-3bb3-487c-b408-70d51608c374 afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855 X 70469941 70469941 G A SNP ZMYM3 ENST00000373988 human ensembl 74_37 -1 known missense c.1192 p.P398S 0.996 NULL pfam_Znf_MYM,pfam_DUF3504,smart_TRASH_dom - no_errors ZMYM3 HGNC ENSG00000147130 tier1 - - 73 0 0.00 10 8 44.44 32 0 0.00 18 8 30.77 TRO 0 genome.wustl.edu 37 X 54950979 54950979 + Silent SNP A A G TCGA-DX-AB2X-01A-11D-A387-09 TCGA-DX-AB2X-10A-01D-A38A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e974c2c7-3bb3-487c-b408-70d51608c374 afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855 X 54950979 54950979 A G SNP TRO ENST00000173898 human ensembl 74_37 +1 known silent c.1332 p.L444 0.993 pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors TRO HGNC ENSG00000067445 tier1 - - 62 0 0.00 24 23 48.94 94 0 0.00 42 81 65.85 PRAMEF20 0 genome.wustl.edu 37 1 13743010 13743010 + Missense_Mutation SNP G G C TCGA-DX-AB2X-01A-11D-A387-09 TCGA-DX-AB2X-10A-01D-A38A-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e974c2c7-3bb3-487c-b408-70d51608c374 afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855 1 13743010 13743010 G C SNP PRAMEF20 ENST00000316412 human ensembl 74_37 +1 known missense c.199 p.G67R 0.015 NULL NULL - no_errors PRAMEF20 HGNC ENSG00000204478 tier1 - - 157 0 0.00 86 28 24.56 26 0 0.00 36 8 18.18 ZNF833P 0 genome.wustl.edu 37 19 11797000 11797000 + R SNP G G C TCGA-DX-AB2X-01A-11D-A387-09 TCGA-DX-AB2X-10A-01D-A38A-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e974c2c7-3bb3-487c-b408-70d51608c374 afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855 19 11797000 11797000 G C SNP ZNF833P ENST00000344893 human ensembl 74_37 +1 known rna NULL NULL 0.095 - - - no_errors ZNF833P HGNC ENSG00000197332 tier1 - - 64 0 0.00 19 67 77.91 110 0 0.00 14 71 82.56 PASK 0 genome.wustl.edu 37 2 242054559 242054559 + Nonsense_Mutation SNP G G A TCGA-DX-AB2X-01A-11D-A387-09 TCGA-DX-AB2X-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e974c2c7-3bb3-487c-b408-70d51608c374 afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855 2 242054559 242054559 G A SNP PASK ENST00000358649 human ensembl 74_37 -1 known nonsense c.3232 p.Q1078* 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,pfam_PAS_fold,superfamily_Kinase-like_dom,superfamily_PAS,smart_PAS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAS,pfscan_Prot_kinase_dom,tigrfam_PAS - no_errors PASK HGNC ENSG00000115687 tier1 - - 24 0 0.00 9 5 35.71 91 0 0.00 62 21 25.30 GAB3 0 genome.wustl.edu 37 X 153906237 153906237 + R SNP C C T TCGA-DX-AB2X-01A-11D-A387-09 TCGA-DX-AB2X-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e974c2c7-3bb3-487c-b408-70d51608c374 afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855 X 153906237 153906237 C T SNP GAB3 ENST00000496390 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors GAB3 HGNC ENSG00000160219 tier1 - - 14 0 0.00 10 4 28.57 73 0 0.00 71 25 26.04 ZNF804A 0 genome.wustl.edu 37 2 185803515 185803515 + Missense_Mutation SNP T T A TCGA-DX-AB2X-01A-11D-A387-09 TCGA-DX-AB2X-10A-01D-A38A-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e974c2c7-3bb3-487c-b408-70d51608c374 afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855 2 185803515 185803515 T A SNP ZNF804A ENST00000302277 human ensembl 74_37 +1 known missense c.3392 p.F1131Y 1.000 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804A HGNC ENSG00000170396 tier1 - - 38 0 0.00 14 4 22.22 86 0 0.00 82 28 25.45 MAP1A 0 genome.wustl.edu 37 15 43820411 43820411 + Missense_Mutation SNP T T A TCGA-DX-AB2X-01A-11D-A387-09 TCGA-DX-AB2X-10A-01D-A38A-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e974c2c7-3bb3-487c-b408-70d51608c374 afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855 15 43820411 43820411 T A SNP MAP1A ENST00000399453 human ensembl 74_37 +1 known missense c.6740 p.L2247Q 0.972 NULL NULL - no_errors MAP1A HGNC ENSG00000166963 tier1 - - 143 0 0.00 41 22 34.38 52 0 0.00 25 16 39.02 OR6C76 0 genome.wustl.edu 37 12 55820114 55820114 + Missense_Mutation SNP T T C TCGA-DX-AB2X-01A-11D-A387-09 TCGA-DX-AB2X-10A-01D-A38A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e974c2c7-3bb3-487c-b408-70d51608c374 afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855 12 55820114 55820114 T C SNP OR6C76 ENST00000328314 human ensembl 74_37 +1 known missense c.77 p.F26S 0.865 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6C76 HGNC ENSG00000185821 tier1 - - 50 0 0.00 6 37 86.05 84 0 0.00 15 65 81.25 TRIM58 0 genome.wustl.edu 37 1 248039664 248039664 + Missense_Mutation SNP G G T TCGA-DX-AB2X-01A-11D-A387-09 TCGA-DX-AB2X-10A-01D-A38A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e974c2c7-3bb3-487c-b408-70d51608c374 afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855 1 248039664 248039664 G T SNP TRIM58 ENST00000366481 human ensembl 74_37 +1 known missense c.1334 p.R445L 0.350 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin 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,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM58 HGNC ENSG00000162722 tier1 - - 114 0 0.00 4 18 81.82 94 0 0.00 12 29 69.05 TF 0 genome.wustl.edu 37 3 133467272 133467272 + Silent SNP C C T TCGA-DX-AB2X-01A-11D-A387-09 TCGA-DX-AB2X-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e974c2c7-3bb3-487c-b408-70d51608c374 afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855 3 133467272 133467272 C T SNP TF ENST00000402696 human ensembl 74_37 +1 known silent c.60 p.V20 0.003 pirsf_Transferrin pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam - no_errors TF HGNC ENSG00000091513 tier1 - - 71 0 0.00 11 25 69.44 50 0 0.00 13 25 64.10 TNRC6C 0 genome.wustl.edu 37 17 76047369 76047369 + Silent SNP A A G TCGA-DX-AB2X-01A-11D-A387-09 TCGA-DX-AB2X-10A-01D-A38A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e974c2c7-3bb3-487c-b408-70d51608c374 afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855 17 76047369 76047369 A G SNP TNRC6C ENST00000335749 human ensembl 74_37 +1 known silent c.2226 p.V742 0.996 NULL pfam_Argonaute_hook_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors TNRC6C HGNC ENSG00000078687 tier1 - - 59 0 0.00 55 47 46.08 89 0 0.00 73 57 43.85 MED14 0 genome.wustl.edu 37 X 40511075 40511075 + Missense_Mutation SNP G G A TCGA-DX-AB2X-01A-11D-A387-09 TCGA-DX-AB2X-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e974c2c7-3bb3-487c-b408-70d51608c374 afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855 X 40511075 40511075 G A SNP MED14 ENST00000324817 human ensembl 74_37 -1 known missense c.4348 p.P1450S 1.000 NULL pfam_Mediator_Med14 - no_errors MED14 HGNC ENSG00000180182 tier1 - - 90 0 0.00 105 38 26.57 83 0 0.00 63 21 25.00 WBSCR22 0 genome.wustl.edu 37 7 73112209 73112209 + Missense_Mutation SNP G G A TCGA-DX-AB2X-01A-11D-A387-09 TCGA-DX-AB2X-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e974c2c7-3bb3-487c-b408-70d51608c374 afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855 7 73112209 73112209 G A SNP WBSCR22 ENST00000265758 human ensembl 74_37 +1 known missense c.839 p.R280H 0.997 pfam_Unchr_MeTrfase_Williams-Beuren pfam_Unchr_MeTrfase_Williams-Beuren,pfam_Methyltransf_11 - no_errors WBSCR22 HGNC ENSG00000071462 tier1 - - 132 0 0.00 77 28 26.67 64 0 0.00 53 17 24.29 MS4A14 0 genome.wustl.edu 37 11 60183891 60183891 + Missense_Mutation SNP A A G TCGA-DX-AB2X-01A-11D-A387-09 TCGA-DX-AB2X-10A-01D-A38A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e974c2c7-3bb3-487c-b408-70d51608c374 afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855 11 60183891 60183891 A G SNP MS4A14 ENST00000300187 human ensembl 74_37 +1 known missense c.1450 p.R484G 0.000 NULL pfam_CD20-like - no_errors MS4A14 HGNC ENSG00000166928 tier1 - - 20 0 0.00 9 18 66.67 98 0 0.00 28 64 69.57 ARV1 0 genome.wustl.edu 37 1 231115061 231115061 + R SNP A A G TCGA-DX-AB2X-01A-11D-A387-09 TCGA-DX-AB2X-10A-01D-A38A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e974c2c7-3bb3-487c-b408-70d51608c374 afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855 1 231115061 231115061 A G SNP ARV1 ENST00000497753 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors ARV1 HGNC ENSG00000173409 tier1 - - 39 0 0.00 7 14 66.67 111 0 0.00 17 60 77.92 SLC26A4 0 genome.wustl.edu 37 7 107330649 107330649 + Silent SNP G G A TCGA-DX-AB2X-01A-11D-A387-09 TCGA-DX-AB2X-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e974c2c7-3bb3-487c-b408-70d51608c374 afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855 7 107330649 107330649 G A SNP SLC26A4 ENST00000265715 human ensembl 74_37 +1 known silent c.1230 p.T410 0.001 pfam_Sulph_transpt,tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A4 HGNC ENSG00000091137 tier1 - - 34 0 0.00 12 11 47.83 83 0 0.00 28 63 69.23 ACAN 0 genome.wustl.edu 37 15 89381937 89381937 + Silent SNP G G A TCGA-DX-AB2X-01A-11D-A387-09 TCGA-DX-AB2X-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e974c2c7-3bb3-487c-b408-70d51608c374 afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855 15 89381937 89381937 G A SNP ACAN ENST00000439576 human ensembl 74_37 +1 known silent c.114 p.P38 0.000 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors ACAN HGNC ENSG00000157766 tier1 - - 88 0 0.00 30 8 21.05 76 1 1.28 39 19 32.76 NF1 0 genome.wustl.edu 37 17 29664854 29664854 + Missense_Mutation SNP T T G TCGA-DX-AB2X-01A-11D-A387-09 TCGA-DX-AB2X-10A-01D-A38A-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e974c2c7-3bb3-487c-b408-70d51608c374 afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855 17 29664854 29664854 T G SNP NF1 ENST00000358273 human ensembl 74_37 +1 known missense c.6660 p.I2220M 1.000 superfamily_ARM-type_fold pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC ENSG00000196712 tier1 - - 67 0 0.00 14 24 63.16 69 0 0.00 12 2 13.33 CXorf22 0 genome.wustl.edu 37 X 35937998 35937998 + Missense_Mutation SNP C C A TCGA-DX-AB2X-01A-11D-A387-09 TCGA-DX-AB2X-10A-01D-A38A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e974c2c7-3bb3-487c-b408-70d51608c374 afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855 X 35937998 35937998 C A SNP CXorf22 ENST00000297866 human ensembl 74_37 +1 known missense c.82 p.P28T 0.000 NULL superfamily_PapD-like - no_errors CXorf22 HGNC ENSG00000165164 tier1 - - 127 0 0.00 48 58 54.72 77 0 0.00 54 56 50.91 FAM47B 0 genome.wustl.edu 37 X 34962204 34962204 + Missense_Mutation SNP G G A TCGA-DX-AB2X-01A-11D-A387-09 TCGA-DX-AB2X-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e974c2c7-3bb3-487c-b408-70d51608c374 afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855 X 34962204 34962204 G A SNP FAM47B ENST00000329357 human ensembl 74_37 +1 known missense c.1256 p.R419Q 0.001 NULL NULL - no_errors FAM47B HGNC ENSG00000189132 tier1 - - 94 0 0.00 49 39 44.32 23 0 0.00 12 14 53.85 TRPA1 0 genome.wustl.edu 37 8 72975032 72975032 + Splice_Site SNP A A T TCGA-DX-AB2X-01A-11D-A387-09 TCGA-DX-AB2X-10A-01D-A38A-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e974c2c7-3bb3-487c-b408-70d51608c374 afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855 8 72975032 72975032 A T SNP TRPA1 ENST00000262209 human ensembl 74_37 -1 known splice_site c.807+2 e6+2 0.998 - - - no_errors TRPA1 HGNC ENSG00000104321 tier1 - - 52 0 0.00 54 20 27.03 43 0 0.00 83 30 26.55 EBF1 0 genome.wustl.edu 37 5 158500455 158500465 + Frame_Shift_Del DEL TTCTTGTCACA TTCTTGTCACA - TCGA-DX-AB2X-01A-11D-A387-09 TCGA-DX-AB2X-10A-01D-A38A-09 TTCTTGTCACA TTCTTGTCACA TTCTTGTCACA - TTCTTGTCACA TTCTTGTCACA Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e974c2c7-3bb3-487c-b408-70d51608c374 afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855 5 158500455 158500465 TTCTTGTCACA - DEL EBF1 ENST00000313708 human ensembl 74_37 -1 known frame_shift_del c.503_493 p.C165fs 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 NULL pfam_IPT,superfamily_Ig_E-set,superfamily_bHLH_dom,smart_IPT - no_errors EBF1 HGNC ENSG00000164330 tier1 99 0 0.00 13 7 35.00 99 0 0.00 13 7 35.00 PIK3C2G 0 genome.wustl.edu 37 12 18491389 18491390 + Frame_Shift_Ins INS - - A TCGA-DX-AB2X-01A-11D-A387-09 TCGA-DX-AB2X-10A-01D-A38A-09 - - - A - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e974c2c7-3bb3-487c-b408-70d51608c374 afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855 12 18491389 18491390 - A INS PIK3C2G ENST00000538779 human ensembl 74_37 +1 known frame_shift_ins c.1302_1303 p.I436fs 0.996:0.999 NULL pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_Phox,pfam_PI3K_Ras-bd_dom,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2G HGNC ENSG00000139144 tier1 50 0 0.00 103 15 12.71 80 0 0.00 100 31 23.66 CCDC18 0 genome.wustl.edu 37 1 93691986 93691986 + Missense_Mutation SNP T T G TCGA-DX-AB2X-01A-11D-A387-09 TCGA-DX-AB2X-10A-01D-A38A-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e974c2c7-3bb3-487c-b408-70d51608c374 afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855 1 93691986 93691986 T G SNP CCDC18 ENST00000557479 human ensembl 74_37 +1 known missense c.2626 p.L876V 0.946 NULL superfamily_Prefoldin,superfamily_tR-bd_arm - no_errors CCDC18 HGNC ENSG00000122483 tier1 - - 95 0 0.00 34 112 76.71 60 0 0.00 7 35 83.33 CDYL2 0 genome.wustl.edu 37 16 80719022 80719022 + Missense_Mutation SNP T T C TCGA-DX-AB2X-01A-11D-A387-09 TCGA-DX-AB2X-10A-01D-A38A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e974c2c7-3bb3-487c-b408-70d51608c374 afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855 16 80719022 80719022 T C SNP CDYL2 ENST00000570137 human ensembl 74_37 -1 known missense c.29 p.E10G 1.000 pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow pfam_Crotonase_core_superfam,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow - no_errors CDYL2 HGNC ENSG00000166446 tier1 - - 24 0 0.00 3 7 70.00 102 0 0.00 7 65 89.04 CTAGE5 0 genome.wustl.edu 37 14 39790147 39790147 + Missense_Mutation SNP G G C TCGA-DX-AB2X-01A-11D-A387-09 TCGA-DX-AB2X-10A-01D-A38A-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e974c2c7-3bb3-487c-b408-70d51608c374 afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855 14 39790147 39790147 G C SNP CTAGE5 ENST00000396158 human ensembl 74_37 +1 known missense c.1574 p.G525A 1.000 NULL NULL - no_errors CTAGE5 HGNC ENSG00000150527 tier1 - - 77 0 0.00 8 31 79.49 30 0 0.00 7 10 58.82 GLT8D2 0 genome.wustl.edu 37 12 104396990 104396990 + Silent SNP G G T TCGA-DX-AB2X-01A-11D-A387-09 TCGA-DX-AB2X-10A-01D-A38A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e974c2c7-3bb3-487c-b408-70d51608c374 afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855 12 104396990 104396990 G T SNP GLT8D2 ENST00000360814 human ensembl 74_37 -1 known silent c.207 p.I69 1.000 pfam_Glyco_trans_8 pfam_Glyco_trans_8 - no_errors GLT8D2 HGNC ENSG00000120820 tier1 - - 63 0 0.00 8 34 80.95 91 0 0.00 8 63 88.73 H1FNT 0 genome.wustl.edu 37 12 48723491 48723491 + Missense_Mutation SNP G G C TCGA-DX-AB2X-01A-11D-A387-09 TCGA-DX-AB2X-10A-01D-A38A-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e974c2c7-3bb3-487c-b408-70d51608c374 afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855 12 48723491 48723491 G C SNP H1FNT ENST00000335017 human ensembl 74_37 +1 known missense c.417 p.E139D 0.000 NULL NULL - no_errors H1FNT HGNC ENSG00000187166 tier1 - - 14 0 0.00 1 8 88.89 16 0 0.00 2 6 75.00 LOXHD1 0 genome.wustl.edu 37 18 44139448 44139448 + Missense_Mutation SNP T T C TCGA-DX-AB2X-01A-11D-A387-09 TCGA-DX-AB2X-10A-01D-A38A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e974c2c7-3bb3-487c-b408-70d51608c374 afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855 18 44139448 44139448 T C SNP LOXHD1 ENST00000536736 human ensembl 74_37 -1 known missense c.3179 p.K1060R 1.000 pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom - no_errors LOXHD1 HGNC ENSG00000167210 tier1 - - 101 0 0.00 6 11 64.71 90 0 0.00 8 33 80.49 MEGF6 0 genome.wustl.edu 37 1 3425216 3425216 + Silent SNP C C T TCGA-DX-AB2X-01A-11D-A387-09 TCGA-DX-AB2X-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e974c2c7-3bb3-487c-b408-70d51608c374 afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855 1 3425216 3425216 C T SNP MEGF6 ENST00000356575 human ensembl 74_37 -1 known silent c.1566 p.L522 1.000 smart_EG-like_dom,pfscan_EG-like_dom pfam_EGF_laminin,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors MEGF6 HGNC ENSG00000162591 tier1 - - 103 0 0.00 5 22 81.48 61 0 0.00 4 25 86.21 RET 0 genome.wustl.edu 37 10 43615162 43615162 + Nonsense_Mutation SNP C C A TCGA-DX-AB2X-01A-11D-A387-09 TCGA-DX-AB2X-10A-01D-A38A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e974c2c7-3bb3-487c-b408-70d51608c374 afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855 10 43615162 43615162 C A SNP RET ENST00000355710 human ensembl 74_37 +1 known nonsense c.2576 p.S859* 1.000 pirsf_Tyr_kinase_Ret_rcpt,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_Tyr_kinase_Ret_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Cadherin,superfamily_Kinase-like_dom,superfamily_Cadherin-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Cadherin - no_errors RET HGNC ENSG00000165731 tier1 - - 71 0 0.00 16 9 36.00 22 0 0.00 8 14 60.87 TP53 0 genome.wustl.edu 37 17 7578406 7578406 + Missense_Mutation SNP C C T TCGA-DX-AB2X-01A-11D-A387-09 TCGA-DX-AB2X-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e974c2c7-3bb3-487c-b408-70d51608c374 afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855 17 7578406 7578406 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.524 p.R175H 1.000 pfam_p53_D-bd,superfamily_p53-like_TF_D-bd,prints_p53_tumour_suppressor 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 rs28934578 - 30 0 0.00 3 18 85.71 49 0 0.00 3 25 89.29 ENSG00000262712 0 genome.wustl.edu 37 16 4386613 4386613 + R SNP G G A TCGA-DX-AB2X-01A-11D-A387-09 TCGA-DX-AB2X-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e974c2c7-3bb3-487c-b408-70d51608c374 afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855 16 4386613 4386613 G A SNP ENSG00000262712 ENST00000574705 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-295D4.1 Clone_based_vega_gene ENSG00000262712 tier1 - - 53 0 0.00 19 14 42.42 47 1 2.08 26 25 49.02 MUC4 0 genome.wustl.edu 37 3 195510015 195510015 + Silent SNP A A G TCGA-DX-AB2X-01A-11D-A387-09 TCGA-DX-AB2X-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e974c2c7-3bb3-487c-b408-70d51608c374 afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855 3 195510015 195510015 A G SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known silent c.8436 p.G2812 0.287 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 tier1 - - 187 0 0.00 18 8 29.63 5 0 0.00 6 0 0.00 NKX2-5 0 genome.wustl.edu 37 5 172661847 172661847 + Silent SNP G G T TCGA-DX-AB2X-01A-11D-A387-09 TCGA-DX-AB2X-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e974c2c7-3bb3-487c-b408-70d51608c374 afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855 5 172661847 172661847 G T SNP NKX2-5 ENST00000329198 human ensembl 74_37 -1 known silent c.240 p.A80 0.997 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors NKX2-5 HGNC ENSG00000183072 tier1 - - 77 0 0.00 34 4 10.53 10 0 0.00 4 0 0.00 DNM1P47 0 genome.wustl.edu 37 15 102299771 102299771 + R SNP C C A TCGA-DX-AB2X-01A-11D-A387-09 TCGA-DX-AB2X-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e974c2c7-3bb3-487c-b408-70d51608c374 afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855 15 102299771 102299771 C A SNP DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors DNM1P47 HGNC ENSG00000259660 tier1 - - 16 0 0.00 8 4 33.33 0 0 0.00 0 0 0.00 GOLGA6L7P 0 genome.wustl.edu 37 15 29090545 29090545 + R SNP C C G TCGA-DX-AB2X-01A-11D-A387-09 TCGA-DX-AB2X-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e974c2c7-3bb3-487c-b408-70d51608c374 afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855 15 29090545 29090545 C G SNP GOLGA6L7P ENST00000569815 human ensembl 74_37 -1 putative rna NULL NULL 0.028 - - - no_errors GOLGA6L7P HGNC ENSG00000261649 tier1 - - 26 0 0.00 2 7 77.78 0 0 0.00 0 0 0.00 CC2 0 genome.wustl.edu 37 9 138903668 138903668 + Silent SNP G G A TCGA-DX-AB2X-01A-11D-A387-09 TCGA-DX-AB2X-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e974c2c7-3bb3-487c-b408-70d51608c374 afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855 9 138903668 138903668 G A SNP CC2 ENST00000277554 human ensembl 74_37 -1 known silent c.1458 p.A486 0.021 NULL pfam_BTB_POZ,pfam_BEN_domain,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors CC2 HGNC ENSG00000148411 tier1 - - 44 0 0.00 9 7 43.75 4 0 0.00 1 0 0.00 NEU4 0 genome.wustl.edu 37 2 242756292 242756292 + Silent SNP G G A TCGA-DX-AB2X-01A-11D-A387-09 TCGA-DX-AB2X-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e974c2c7-3bb3-487c-b408-70d51608c374 afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855 2 242756292 242756292 G A SNP NEU4 ENST00000325935 human ensembl 74_37 +1 known silent c.444 p.S148 0.943 superfamily_Sialidases superfamily_Sialidases - no_errors NEU4 HGNC ENSG00000204099 tier1 - - 105 0 0.00 28 9 24.32 0 0 0.00 0 0 0.00 POTEM 0 genome.wustl.edu 37 14 20012890 20012890 + Missense_Mutation SNP A A T TCGA-DX-AB2X-01A-11D-A387-09 TCGA-DX-AB2X-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e974c2c7-3bb3-487c-b408-70d51608c374 afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855 14 20012890 20012890 A T SNP POTEM ENST00000547722 human ensembl 74_37 -1 known missense c.866 p.L289Q 0.017 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTEM HGNC ENSG00000187537 tier1 - - 21 0 0.00 39 16 29.09 0 0 0.00 0 0 0.00 KANK1 0 genome.wustl.edu 37 9 734665 734666 + R INS - - AA TCGA-DX-AB2X-01A-11D-A387-09 TCGA-DX-AB2X-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e974c2c7-3bb3-487c-b408-70d51608c374 afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855 9 734665 734666 - AA INS KANK1 ENST00000489369 human ensembl 74_37 +1 known rna NULL NULL 0.002:0.002 - - - no_errors KANK1 HGNC ENSG00000107104 tier1 46 0 0.00 34 3 8.11 30 0 0.00 22 2 8.33