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 ROR2 0 genome.wustl.edu 37 9 94484841 94484841 + Missense_Mutation SNP C C T TCGA-VT-A80J-01A-11D-A36J-09 TCGA-VT-A80J-11A-22D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 695291d4-4e6c-46d1-aeff-2ddaf0fdd1ee fd6129c3-faca-4233-9ba6-92cc70bcb0de 9 94484841 94484841 C T SNP ROR2 ENST00000375715 human ensembl 74_37 -1 putative missense c.1942 p.G648R 0.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Kringle,pfam_Frizzled_dom,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ROR2 HGNC ENSG00000169071 tier1 - - 21 0 0.00 21 6 22.22 97 0 0.00 131 23 14.94 MAGED1 0 genome.wustl.edu 37 X 51638173 51638173 + Missense_Mutation SNP G G A TCGA-VT-A80J-01A-11D-A36J-09 TCGA-VT-A80J-11A-22D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 695291d4-4e6c-46d1-aeff-2ddaf0fdd1ee fd6129c3-faca-4233-9ba6-92cc70bcb0de X 51638173 51638173 G A SNP MAGED1 ENST00000375695 human ensembl 74_37 +1 known missense c.238 p.A80T 0.950 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGED1 HGNC ENSG00000179222 tier1 - - 61 0 0.00 23 30 56.60 68 0 0.00 70 22 23.91 UBXN4 0 genome.wustl.edu 37 2 136530072 136530072 + Missense_Mutation SNP A A G TCGA-VT-A80J-01A-11D-A36J-09 TCGA-VT-A80J-11A-22D-A36M-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 695291d4-4e6c-46d1-aeff-2ddaf0fdd1ee fd6129c3-faca-4233-9ba6-92cc70bcb0de 2 136530072 136530072 A G SNP UBXN4 ENST00000272638 human ensembl 74_37 +1 known missense c.905 p.Q302R 1.000 NULL pfam_UBX,superfamily_Thioredoxin-like_fold,smart_UBX,pfscan_UBX - no_errors UBXN4 HGNC ENSG00000144224 tier1 - - 61 0 0.00 57 41 41.84 79 0 0.00 117 16 12.03 LIN37 0 genome.wustl.edu 37 19 36244131 36244131 + Missense_Mutation SNP C C G TCGA-VT-A80J-01A-11D-A36J-09 TCGA-VT-A80J-11A-22D-A36M-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 695291d4-4e6c-46d1-aeff-2ddaf0fdd1ee fd6129c3-faca-4233-9ba6-92cc70bcb0de 19 36244131 36244131 C G SNP LIN37 ENST00000301159 human ensembl 74_37 +1 known missense c.421 p.P141A 0.901 NULL NULL - no_errors LIN37 HGNC ENSG00000267796 tier1 - - 58 0 0.00 68 22 24.44 9 0 0.00 17 8 32.00 LOC440700 0 genome.wustl.edu 37 1 165677941 165677941 + R SNP C C T TCGA-VT-A80J-01A-11D-A36J-09 TCGA-VT-A80J-11A-22D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 695291d4-4e6c-46d1-aeff-2ddaf0fdd1ee fd6129c3-faca-4233-9ba6-92cc70bcb0de 1 165677941 165677941 C T SNP LOC440700 ENST00000400982 human ensembl 74_37 +1 known rna NULL NULL 0.013 - - - no_errors RP11-466F5.6 Clone_based_vega_gene ENSG00000215838 tier1 - - 38 0 0.00 2 10 83.33 54 0 0.00 65 20 23.53 FLG2 0 genome.wustl.edu 37 1 152328366 152328366 + Silent SNP G G C TCGA-VT-A80J-01A-11D-A36J-09 TCGA-VT-A80J-11A-22D-A36M-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 695291d4-4e6c-46d1-aeff-2ddaf0fdd1ee fd6129c3-faca-4233-9ba6-92cc70bcb0de 1 152328366 152328366 G C SNP FLG2 ENST00000388718 human ensembl 74_37 -1 known silent c.1896 p.G632 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG2 HGNC ENSG00000143520 tier1 - - 107 1 0.92 61 40 39.22 52 0 0.00 95 24 20.00 ARRDC1 0 genome.wustl.edu 37 9 140507315 140507315 + R SNP T T A TCGA-VT-A80J-01A-11D-A36J-09 TCGA-VT-A80J-11A-22D-A36M-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 695291d4-4e6c-46d1-aeff-2ddaf0fdd1ee fd6129c3-faca-4233-9ba6-92cc70bcb0de 9 140507315 140507315 T A SNP ARRDC1 ENST00000491911 human ensembl 74_37 +1 known rna NULL NULL 0.300 - - - no_errors ARRDC1 HGNC ENSG00000197070 tier1 - - 47 0 0.00 16 6 27.27 15 0 0.00 27 4 12.90 SASH1 0 genome.wustl.edu 37 6 148846428 148846428 + Missense_Mutation SNP G G T TCGA-VT-A80J-01A-11D-A36J-09 TCGA-VT-A80J-11A-22D-A36M-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 695291d4-4e6c-46d1-aeff-2ddaf0fdd1ee fd6129c3-faca-4233-9ba6-92cc70bcb0de 6 148846428 148846428 G T SNP SASH1 ENST00000367467 human ensembl 74_37 +1 known missense c.1211 p.R404I 1.000 pfam_rSAM/SH3_domain-containing pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM - no_errors SASH1 HGNC ENSG00000111961 tier1 - - 50 0 0.00 31 43 58.11 124 0 0.00 128 38 22.89 ZCCHC12 0 genome.wustl.edu 37 X 117960020 117960020 + Silent SNP C C T TCGA-VT-A80J-01A-11D-A36J-09 TCGA-VT-A80J-11A-22D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 695291d4-4e6c-46d1-aeff-2ddaf0fdd1ee fd6129c3-faca-4233-9ba6-92cc70bcb0de X 117960020 117960020 C T SNP ZCCHC12 ENST00000310164 human ensembl 74_37 +1 known silent c.813 p.D271 0.946 NULL superfamily_Znf_CCHC - no_errors ZCCHC12 HGNC ENSG00000174460 tier1 - - 35 0 0.00 5 11 68.75 28 0 0.00 40 13 24.53 LRIT2 0 genome.wustl.edu 37 10 85982349 85982349 + Missense_Mutation SNP C C T TCGA-VT-A80J-01A-11D-A36J-09 TCGA-VT-A80J-11A-22D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 695291d4-4e6c-46d1-aeff-2ddaf0fdd1ee fd6129c3-faca-4233-9ba6-92cc70bcb0de 10 85982349 85982349 C T SNP LRIT2 ENST00000538192 human ensembl 74_37 -1 known missense c.1010 p.C337Y 0.998 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRIT2 HGNC ENSG00000204033 tier1 - - 37 0 0.00 10 15 60.00 102 0 0.00 121 29 19.21 AHK2 0 genome.wustl.edu 37 14 105413459 105413459 + Missense_Mutation SNP A A G TCGA-VT-A80J-01A-11D-A36J-09 TCGA-VT-A80J-11A-22D-A36M-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 695291d4-4e6c-46d1-aeff-2ddaf0fdd1ee fd6129c3-faca-4233-9ba6-92cc70bcb0de 14 105413459 105413459 A G SNP AHK2 ENST00000333244 human ensembl 74_37 -1 known missense c.8329 p.S2777P 0.466 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHK2 HGNC ENSG00000185567 tier1 - - 97 0 0.00 67 60 47.24 31 0 0.00 22 4 15.38 ADCY8 0 genome.wustl.edu 37 8 132051899 132051899 + Silent SNP G G A TCGA-VT-A80J-01A-11D-A36J-09 TCGA-VT-A80J-11A-22D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 695291d4-4e6c-46d1-aeff-2ddaf0fdd1ee fd6129c3-faca-4233-9ba6-92cc70bcb0de 8 132051899 132051899 G A SNP ADCY8 ENST00000286355 human ensembl 74_37 -1 known silent c.681 p.C227 0.998 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY8 HGNC ENSG00000155897 tier1 - - 24 0 0.00 10 12 54.55 51 0 0.00 85 28 24.78 TP53 0 genome.wustl.edu 37 17 7578393 7578393 + Missense_Mutation SNP A A C TCGA-VT-A80J-01A-11D-A36J-09 TCGA-VT-A80J-11A-22D-A36M-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 695291d4-4e6c-46d1-aeff-2ddaf0fdd1ee fd6129c3-faca-4233-9ba6-92cc70bcb0de 17 7578393 7578393 A C SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.537 p.H179Q 0.699 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 - - 39 0 0.00 8 7 46.67 67 0 0.00 55 13 19.12 FAM210B 0 genome.wustl.edu 37 20 54941148 54941148 + Missense_Mutation SNP C C G TCGA-VT-A80J-01A-11D-A36J-09 TCGA-VT-A80J-11A-22D-A36M-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 695291d4-4e6c-46d1-aeff-2ddaf0fdd1ee fd6129c3-faca-4233-9ba6-92cc70bcb0de 20 54941148 54941148 C G SNP FAM210B ENST00000371384 human ensembl 74_37 +1 known missense c.384 p.I128M 0.995 pfam_DUF1279 pfam_DUF1279 - no_errors FAM210B HGNC ENSG00000124098 tier1 - - 21 0 0.00 30 11 26.83 45 0 0.00 69 11 13.75 BMP6 0 genome.wustl.edu 37 6 7727534 7727534 + Missense_Mutation SNP C C A TCGA-VT-A80J-01A-11D-A36J-09 TCGA-VT-A80J-11A-22D-A36M-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 695291d4-4e6c-46d1-aeff-2ddaf0fdd1ee fd6129c3-faca-4233-9ba6-92cc70bcb0de 6 7727534 7727534 C A SNP BMP6 ENST00000283147 human ensembl 74_37 +1 known missense c.346 p.Q116K 0.341 pfam_TGF-b_N pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C - no_errors BMP6 HGNC ENSG00000153162 tier1 - - 10 0 0.00 7 4 36.36 8 0 0.00 1 3 75.00 CDH26 0 genome.wustl.edu 37 20 58577889 58577889 + Missense_Mutation SNP C C G TCGA-VT-A80J-01A-11D-A36J-09 TCGA-VT-A80J-11A-22D-A36M-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 695291d4-4e6c-46d1-aeff-2ddaf0fdd1ee fd6129c3-faca-4233-9ba6-92cc70bcb0de 20 58577889 58577889 C G SNP CDH26 ENST00000348616 human ensembl 74_37 +1 known missense c.2188 p.P730A 0.008 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH26 HGNC ENSG00000124215 tier1 - - 78 0 0.00 66 16 19.28 109 0 0.00 143 12 7.74 MYL1 0 genome.wustl.edu 37 2 211179643 211179643 + Missense_Mutation SNP C C T TCGA-VT-A80J-01A-11D-A36J-09 TCGA-VT-A80J-11A-22D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 695291d4-4e6c-46d1-aeff-2ddaf0fdd1ee fd6129c3-faca-4233-9ba6-92cc70bcb0de 2 211179643 211179643 C T SNP MYL1 ENST00000352451 human ensembl 74_37 -1 known missense c.124 p.A42T 0.993 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors MYL1 HGNC ENSG00000168530 tier1 - - 61 0 0.00 59 7 10.61 86 0 0.00 99 10 9.17 NCKIPSD 0 genome.wustl.edu 37 3 48701489 48701489 + Missense_Mutation SNP G G T TCGA-VT-A80J-01A-11D-A36J-09 TCGA-VT-A80J-11A-22D-A36M-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 695291d4-4e6c-46d1-aeff-2ddaf0fdd1ee fd6129c3-faca-4233-9ba6-92cc70bcb0de 3 48701489 48701489 G T SNP NCKIPSD ENST00000341520 human ensembl 74_37 -1 known missense c.2044 p.P682T 0.098 NULL pfam_DUF2013,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors NCKIPSD HGNC ENSG00000213672 tier1 - - 179 0 0.00 119 26 17.93 28 0 0.00 89 5 5.26 MYADML 0 genome.wustl.edu 37 2 33952141 33952141 + R SNP C C T TCGA-VT-A80J-01A-11D-A36J-09 TCGA-VT-A80J-11A-22D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 695291d4-4e6c-46d1-aeff-2ddaf0fdd1ee fd6129c3-faca-4233-9ba6-92cc70bcb0de 2 33952141 33952141 C T SNP MYADML ENST00000474610 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors MYADML HGNC ENSG00000239649 tier1 - - 61 0 0.00 49 20 28.99 148 0 0.00 174 12 6.45 FILIP1 0 genome.wustl.edu 37 6 76023331 76023331 + Silent SNP A A G TCGA-VT-A80J-01A-11D-A36J-09 TCGA-VT-A80J-11A-22D-A36M-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 695291d4-4e6c-46d1-aeff-2ddaf0fdd1ee fd6129c3-faca-4233-9ba6-92cc70bcb0de 6 76023331 76023331 A G SNP FILIP1 ENST00000237172 human ensembl 74_37 -1 known silent c.2217 p.D739 0.956 NULL pfam_Cortactin-binding_p2_N,prints_Tropomyosin - no_errors FILIP1 HGNC ENSG00000118407 tier1 - - 24 0 0.00 9 10 52.63 88 0 0.00 79 6 7.06 CHD5 0 genome.wustl.edu 37 1 6206323 6206323 + Missense_Mutation SNP C C T TCGA-VT-A80J-01A-11D-A36J-09 TCGA-VT-A80J-11A-22D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 695291d4-4e6c-46d1-aeff-2ddaf0fdd1ee fd6129c3-faca-4233-9ba6-92cc70bcb0de 1 6206323 6206323 C T SNP CHD5 ENST00000262450 human ensembl 74_37 -1 known missense c.1751 p.R584H 1.000 superfamily_Chromodomain-like pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD5 HGNC ENSG00000116254 tier1 rs141210110 - 35 0 0.00 17 9 34.62 63 0 0.00 96 7 6.80 CPS1 0 genome.wustl.edu 37 2 211540493 211540493 + Missense_Mutation SNP C C A TCGA-VT-A80J-01A-11D-A36J-09 TCGA-VT-A80J-11A-22D-A36M-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 695291d4-4e6c-46d1-aeff-2ddaf0fdd1ee fd6129c3-faca-4233-9ba6-92cc70bcb0de 2 211540493 211540493 C A SNP CPS1 ENST00000430249 human ensembl 74_37 +1 known missense c.4221 p.N1407K 1.000 pfam_MGS-like_dom,superfamily_MGS-like_dom,smart_MGS-like_dom,tigrfam_CarbamoylP_synth_lsu pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_CarbamoylP_synth_lsu_oligo,pfam_GATASE,pfam_CarbamoylP_synth_lsu_N,pfam_MGS-like_dom,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu - no_errors CPS1 HGNC ENSG00000021826 tier1 - - 43 0 0.00 39 9 18.75 61 0 0.00 101 9 8.18 GINS1 0 genome.wustl.edu 37 20 25422336 25422336 + Splice_Site SNP A A G TCGA-VT-A80J-01A-11D-A36J-09 TCGA-VT-A80J-11A-22D-A36M-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 695291d4-4e6c-46d1-aeff-2ddaf0fdd1ee fd6129c3-faca-4233-9ba6-92cc70bcb0de 20 25422336 25422336 A G SNP GINS1 ENST00000262460 human ensembl 74_37 +1 known splice_site c.448-2 e6-2 1.000 - - - no_errors GINS1 HGNC ENSG00000101003 tier1 - - 49 0 0.00 45 13 22.41 83 0 0.00 74 4 5.13 TRPM6 0 genome.wustl.edu 37 9 77502760 77502760 + Missense_Mutation SNP G G T TCGA-VT-A80J-01A-11D-A36J-09 TCGA-VT-A80J-11A-22D-A36M-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 695291d4-4e6c-46d1-aeff-2ddaf0fdd1ee fd6129c3-faca-4233-9ba6-92cc70bcb0de 9 77502760 77502760 G T SNP TRPM6 ENST00000451710 human ensembl 74_37 -1 known missense c.13 p.P5T 0.000 NULL pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors TRPM6 HGNC ENSG00000119121 tier1 - - 34 0 0.00 22 14 38.89 74 1 1.33 139 15 9.74 NPFFR2 0 genome.wustl.edu 37 4 73013005 73013005 + Missense_Mutation SNP T T C TCGA-VT-A80J-01A-11D-A36J-09 TCGA-VT-A80J-11A-22D-A36M-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 695291d4-4e6c-46d1-aeff-2ddaf0fdd1ee fd6129c3-faca-4233-9ba6-92cc70bcb0de 4 73013005 73013005 T C SNP NPFFR2 ENST00000308744 human ensembl 74_37 +1 known missense c.1045 p.F349L 0.998 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NPFF_rcpt_2,prints_NPFF_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors NPFFR2 HGNC ENSG00000056291 tier1 - - 54 0 0.00 42 17 28.81 91 1 1.09 112 6 5.08 SYNE4 0 genome.wustl.edu 37 19 36497392 36497392 + Missense_Mutation SNP C C T TCGA-VT-A80J-01A-11D-A36J-09 TCGA-VT-A80J-11A-22D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 695291d4-4e6c-46d1-aeff-2ddaf0fdd1ee fd6129c3-faca-4233-9ba6-92cc70bcb0de 19 36497392 36497392 C T SNP SYNE4 ENST00000324444 human ensembl 74_37 -1 known missense c.800 p.R267Q 0.030 NULL pfam_KASH,pfscan_KASH - no_errors SYNE4 HGNC ENSG00000181392 tier1 rs200616477 - 56 0 0.00 63 13 17.11 33 0 0.00 83 7 7.78 RGS21 0 genome.wustl.edu 37 1 192316509 192316522 + Frame_Shift_Del DEL AGCCAACCAAGGTA AGCCAACCAAGGTA - TCGA-VT-A80J-01A-11D-A36J-09 TCGA-VT-A80J-11A-22D-A36M-09 AGCCAACCAAGGTA AGCCAACCAAGGTA AGCCAACCAAGGTA - AGCCAACCAAGGTA AGCCAACCAAGGTA Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 695291d4-4e6c-46d1-aeff-2ddaf0fdd1ee fd6129c3-faca-4233-9ba6-92cc70bcb0de 1 192316509 192316522 AGCCAACCAAGGTA - DEL RGS21 ENST00000417209 human ensembl 74_37 +1 known frame_shift_del c.78_88 p.L26fs 1.000:1.000:1.000:0.991:0.990:0.968:0.645:0.950:1.000:1.000:1.000 pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS21 HGNC ENSG00000253148 tier1 82 0 0.00 85 4 4.49 82 0 0.00 85 4 4.49 ESRP1 0 genome.wustl.edu 37 8 95677276 95677276 + Missense_Mutation SNP C C T TCGA-VT-A80J-01A-11D-A36J-09 TCGA-VT-A80J-11A-22D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 695291d4-4e6c-46d1-aeff-2ddaf0fdd1ee fd6129c3-faca-4233-9ba6-92cc70bcb0de 8 95677276 95677276 C T SNP ESRP1 ENST00000433389 human ensembl 74_37 +1 known missense c.877 p.R293W 1.000 smart_RRM_dom,pfscan_RRM_dom superfamily_RNaseH-like_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors ESRP1 HGNC ENSG00000104413 tier1 - - 68 0 0.00 37 10 21.28 106 2 1.85 146 52 26.26 ATAD3C 0 genome.wustl.edu 37 1 1387815 1387815 + Splice_Site SNP G G A TCGA-VT-A80J-01A-11D-A36J-09 TCGA-VT-A80J-11A-22D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 695291d4-4e6c-46d1-aeff-2ddaf0fdd1ee fd6129c3-faca-4233-9ba6-92cc70bcb0de 1 1387815 1387815 G A SNP ATAD3C ENST00000378785 human ensembl 74_37 +1 known splice_site c.222+1 e3+1 1.000 - - - no_errors ATAD3C HGNC ENSG00000215915 tier1 - - 112 0 0.00 25 36 59.02 105 2 1.87 90 9 9.09 DMD 0 genome.wustl.edu 37 X 33229530 33229530 + R SNP C C G TCGA-VT-A80J-01A-11D-A36J-09 TCGA-VT-A80J-11A-22D-A36M-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 695291d4-4e6c-46d1-aeff-2ddaf0fdd1ee fd6129c3-faca-4233-9ba6-92cc70bcb0de X 33229530 33229530 C G SNP DMD ENST00000463609 human ensembl 74_37 -1 known rna NULL NULL 0.902 - - - no_errors DMD HGNC ENSG00000198947 tier1 - - 71 0 0.00 57 53 48.18 130 2 1.52 158 60 27.52 ACCS 0 genome.wustl.edu 37 11 44104733 44104733 + Missense_Mutation SNP G G T TCGA-VT-A80J-01A-11D-A36J-09 TCGA-VT-A80J-11A-22D-A36M-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 695291d4-4e6c-46d1-aeff-2ddaf0fdd1ee fd6129c3-faca-4233-9ba6-92cc70bcb0de 11 44104733 44104733 G T SNP ACCS ENST00000263776 human ensembl 74_37 +1 known missense c.1126 p.V376L 0.999 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase - no_errors ACCS HGNC ENSG00000110455 tier1 - - 54 0 0.00 9 31 77.50 157 2 1.25 165 51 23.61 PLEKHO1 0 genome.wustl.edu 37 1 150128083 150128083 + R SNP C C T TCGA-VT-A80J-01A-11D-A36J-09 TCGA-VT-A80J-11A-22D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 695291d4-4e6c-46d1-aeff-2ddaf0fdd1ee fd6129c3-faca-4233-9ba6-92cc70bcb0de 1 150128083 150128083 C T SNP PLEKHO1 ENST00000477309 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors PLEKHO1 HGNC ENSG00000023902 tier1 - - 59 0 0.00 27 25 48.08 111 2 1.77 191 52 21.40 KHDRBS1 0 genome.wustl.edu 37 1 32503558 32503558 + Missense_Mutation SNP C C T TCGA-VT-A80J-01A-11D-A36J-09 TCGA-VT-A80J-11A-22D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 695291d4-4e6c-46d1-aeff-2ddaf0fdd1ee fd6129c3-faca-4233-9ba6-92cc70bcb0de 1 32503558 32503558 C T SNP KHDRBS1 ENST00000327300 human ensembl 74_37 +1 known missense c.1028 p.P343L 0.997 NULL pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors KHDRBS1 HGNC ENSG00000121774 tier1 - - 52 0 0.00 75 29 27.88 34 1 2.86 89 11 11.00 MT1HL1 0 genome.wustl.edu 37 1 237167633 237167633 + Missense_Mutation SNP C C T TCGA-VT-A80J-01A-11D-A36J-09 TCGA-VT-A80J-11A-22D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 695291d4-4e6c-46d1-aeff-2ddaf0fdd1ee fd6129c3-faca-4233-9ba6-92cc70bcb0de 1 237167633 237167633 C T SNP MT1HL1 ENST00000464121 human ensembl 74_37 -1 known missense c.40 p.A14T 0.006 pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom,prints_Metalthion_vert pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom,prints_Metalthion_vert - no_errors MT1HL1 HGNC ENSG00000244020 tier1 - - 47 0 0.00 12 17 58.62 5 0 0.00 7 1 12.50 RTL1 0 genome.wustl.edu 37 14 101347810 101347810 + Missense_Mutation SNP A A G TCGA-VT-A80J-01A-11D-A36J-09 TCGA-VT-A80J-11A-22D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 695291d4-4e6c-46d1-aeff-2ddaf0fdd1ee fd6129c3-faca-4233-9ba6-92cc70bcb0de 14 101347810 101347810 A G SNP RTL1 ENST00000534062 human ensembl 74_37 -1 known missense c.3316 p.S1106P 0.000 NULL pfam_Retrotrans_gag_dom,superfamily_Peptidase_aspartic_dom - no_errors RTL1 HGNC ENSG00000254656 tier1 - - 26 0 0.00 16 8 33.33 9 0 0.00 6 0 0.00 LOC645752 0 genome.wustl.edu 37 15 78207077 78207077 + R SNP G G T TCGA-VT-A80J-01A-11D-A36J-09 TCGA-VT-A80J-11A-22D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 695291d4-4e6c-46d1-aeff-2ddaf0fdd1ee fd6129c3-faca-4233-9ba6-92cc70bcb0de 15 78207077 78207077 G T SNP LOC645752 ENST00000563349 human ensembl 74_37 -1 known rna NULL NULL 0.019 - - - no_errors RP11-114H24.2 Clone_based_vega_gene ENSG00000260776 tier1 - - 121 1 0.82 140 57 28.93 0 0 0.00 0 0 0.00 NPIPA1 0 genome.wustl.edu 37 16 15045631 15045631 + Missense_Mutation SNP G G A TCGA-VT-A80J-01A-11D-A36J-09 TCGA-VT-A80J-11A-22D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 695291d4-4e6c-46d1-aeff-2ddaf0fdd1ee fd6129c3-faca-4233-9ba6-92cc70bcb0de 16 15045631 15045631 G A SNP NPIPA1 ENST00000328085 human ensembl 74_37 +1 novel missense c.802 p.E268K 0.032 NULL NULL - no_errors NPIPA1 HGNC ENSG00000183426 tier1 rs201805072 - 41 0 0.00 7 5 41.67 0 0 0.00 0 0 0.00 SPANXD 0 genome.wustl.edu 37 X 140786506 140786506 + Missense_Mutation SNP G G T TCGA-VT-A80J-01A-11D-A36J-09 TCGA-VT-A80J-11A-22D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 695291d4-4e6c-46d1-aeff-2ddaf0fdd1ee fd6129c3-faca-4233-9ba6-92cc70bcb0de X 140786506 140786506 G T SNP SPANXD ENST00000370515 human ensembl 74_37 -1 known missense c.57 p.N19K 0.016 pfam_SPANX_prot pfam_SPANX_prot - no_errors SPANXD HGNC ENSG00000196406 tier1 - - 196 1 0.51 45 74 62.18 24 0 0.00 22 2 8.33