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 KIAA1549 0 genome.wustl.edu 37 7 138601629 138601629 + Missense_Mutation SNP C C A TCGA-QQ-A5V9-01A-11D-A32I-09 TCGA-QQ-A5V9-11A-31D-A32I-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1ae3de4e-4700-435a-add1-586224c5838b f3212ce3-7a66-415a-9ef8-f1669ed8940e 7 138601629 138601629 C A SNP KIAA1549 ENST00000422774 human ensembl 74_37 -1 known missense c.2743 p.A915S 0.000 NULL NULL - no_errors KIAA1549 HGNC ENSG00000122778 tier1 - - 34 0 0.00 22 7 24.14 39 0 0.00 35 13 27.08 KLF8 0 genome.wustl.edu 37 X 56276720 56276720 + Missense_Mutation SNP A A G TCGA-QQ-A5V9-01A-11D-A32I-09 TCGA-QQ-A5V9-11A-31D-A32I-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1ae3de4e-4700-435a-add1-586224c5838b f3212ce3-7a66-415a-9ef8-f1669ed8940e X 56276720 56276720 A G SNP KLF8 ENST00000468660 human ensembl 74_37 +1 known missense c.64 p.M22V 0.978 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF8 HGNC ENSG00000102349 tier1 - - 21 0 0.00 23 16 41.03 63 0 0.00 27 38 58.46 WDFY3 0 genome.wustl.edu 37 4 85625498 85625498 + Missense_Mutation SNP C C G TCGA-QQ-A5V9-01A-11D-A32I-09 TCGA-QQ-A5V9-11A-31D-A32I-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1ae3de4e-4700-435a-add1-586224c5838b f3212ce3-7a66-415a-9ef8-f1669ed8940e 4 85625498 85625498 C G SNP WDFY3 ENST00000295888 human ensembl 74_37 -1 known missense c.8435 p.R2812T 0.997 pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC ENSG00000163625 tier1 - - 67 0 0.00 38 18 32.14 143 0 0.00 48 22 31.43 ENSG00000244227 0 genome.wustl.edu 37 3 167621135 167621135 + R SNP C C T TCGA-QQ-A5V9-01A-11D-A32I-09 TCGA-QQ-A5V9-11A-31D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1ae3de4e-4700-435a-add1-586224c5838b f3212ce3-7a66-415a-9ef8-f1669ed8940e 3 167621135 167621135 C T SNP ENSG00000244227 ENST00000459923 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors RP11-298O21.5 Clone_based_vega_gene ENSG00000244227 tier1 - - 55 0 0.00 57 7 10.94 127 0 0.00 63 16 20.25 PAPD5 0 genome.wustl.edu 37 16 50265294 50265294 + R SNP C C T TCGA-QQ-A5V9-01A-11D-A32I-09 TCGA-QQ-A5V9-11A-31D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1ae3de4e-4700-435a-add1-586224c5838b f3212ce3-7a66-415a-9ef8-f1669ed8940e 16 50265294 50265294 C T SNP PAPD5 ENST00000573002 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors PAPD5 HGNC ENSG00000121274 tier1 - - 67 0 0.00 38 20 34.48 36 0 0.00 20 5 20.00 B4GALNT3 0 genome.wustl.edu 37 12 665772 665772 + Missense_Mutation SNP G G A TCGA-QQ-A5V9-01A-11D-A32I-09 TCGA-QQ-A5V9-11A-31D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1ae3de4e-4700-435a-add1-586224c5838b f3212ce3-7a66-415a-9ef8-f1669ed8940e 12 665772 665772 G A SNP B4GALNT3 ENST00000266383 human ensembl 74_37 +1 known missense c.2120 p.G707D 0.894 pfam_Chond_Galc pfam_PA14,pfam_Chond_Galc,smart_PA14 - no_errors B4GALNT3 HGNC ENSG00000139044 tier1 - - 94 0 0.00 54 15 21.74 75 0 0.00 34 12 26.09 CSMD2 0 genome.wustl.edu 37 1 34312507 34312507 + Silent SNP G G A TCGA-QQ-A5V9-01A-11D-A32I-09 TCGA-QQ-A5V9-11A-31D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1ae3de4e-4700-435a-add1-586224c5838b f3212ce3-7a66-415a-9ef8-f1669ed8940e 1 34312507 34312507 G A SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known silent c.1011 p.R337 0.212 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom 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 CSMD2 HGNC ENSG00000121904 tier1 rs143306375 - 36 0 0.00 27 7 20.59 44 0 0.00 27 6 18.18 CCDC169-SOHLH2 0 genome.wustl.edu 37 13 36765961 36765961 + Silent SNP C C T TCGA-QQ-A5V9-01A-11D-A32I-09 TCGA-QQ-A5V9-11A-31D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1ae3de4e-4700-435a-add1-586224c5838b f3212ce3-7a66-415a-9ef8-f1669ed8940e 13 36765961 36765961 C T SNP CCDC169-SOHLH2 ENST00000511166 human ensembl 74_37 -1 known silent c.732 p.L244 0.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors CCDC169-SOHLH2 HGNC ENSG00000250709 tier1 - - 81 0 0.00 67 11 14.10 122 0 0.00 50 20 28.57 TMLHE 0 genome.wustl.edu 37 X 154736707 154736707 + Missense_Mutation SNP G G C TCGA-QQ-A5V9-01A-11D-A32I-09 TCGA-QQ-A5V9-11A-31D-A32I-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1ae3de4e-4700-435a-add1-586224c5838b f3212ce3-7a66-415a-9ef8-f1669ed8940e X 154736707 154736707 G C SNP TMLHE ENST00000334398 human ensembl 74_37 -1 known missense c.847 p.Q283E 0.996 pfam_Taurine_dOase,tigrfam_Trimethyllysine_dOase pfam_Taurine_dOase,pfam_DUF971,tigrfam_Trimethyllysine_dOase - no_errors TMLHE HGNC ENSG00000185973 tier1 - - 37 0 0.00 30 21 41.18 46 0 0.00 24 19 44.19 DLG4 0 genome.wustl.edu 37 17 7094060 7094060 + Silent SNP G G A TCGA-QQ-A5V9-01A-11D-A32I-09 TCGA-QQ-A5V9-11A-31D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1ae3de4e-4700-435a-add1-586224c5838b f3212ce3-7a66-415a-9ef8-f1669ed8940e 17 7094060 7094060 G A SNP DLG4 ENST00000399510 human ensembl 74_37 -1 known silent c.2271 p.P757 1.000 pirsf_M-assoc_guanylate_kinase,superfamily_P-loop_NTPase pirsf_M-assoc_guanylate_kinase,pfam_GK/Ca_channel_bsu,pfam_PDZ,pfam_PDZ_assoc,pfam_MAGUK_PEST_N,pfam_SH3_domain,pfam_SH3_2,pfam_L27_1,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG4 HGNC ENSG00000132535 tier1 - - 72 0 0.00 56 25 30.86 86 0 0.00 52 25 32.47 KNTC1 0 genome.wustl.edu 37 12 123036012 123036012 + Missense_Mutation SNP G G A TCGA-QQ-A5V9-01A-11D-A32I-09 TCGA-QQ-A5V9-11A-31D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1ae3de4e-4700-435a-add1-586224c5838b f3212ce3-7a66-415a-9ef8-f1669ed8940e 12 123036012 123036012 G A SNP KNTC1 ENST00000333479 human ensembl 74_37 +1 known missense c.1138 p.E380K 1.000 NULL pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH - no_errors KNTC1 HGNC ENSG00000184445 tier1 - - 73 0 0.00 58 17 22.67 101 0 0.00 36 8 18.18 JAKMIP3 0 genome.wustl.edu 37 10 133963537 133963537 + Missense_Mutation SNP G G A TCGA-QQ-A5V9-01A-11D-A32I-09 TCGA-QQ-A5V9-11A-31D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1ae3de4e-4700-435a-add1-586224c5838b f3212ce3-7a66-415a-9ef8-f1669ed8940e 10 133963537 133963537 G A SNP JAKMIP3 ENST00000298622 human ensembl 74_37 +1 known missense c.1999 p.A667T 1.000 NULL NULL - no_errors JAKMIP3 HGNC ENSG00000188385 tier1 rs199769239 GMAF=0.0005 20 0 0.00 22 7 24.14 100 0 0.00 29 10 25.64 ACCS 0 genome.wustl.edu 37 11 44104824 44104824 + Missense_Mutation SNP G G A TCGA-QQ-A5V9-01A-11D-A32I-09 TCGA-QQ-A5V9-11A-31D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1ae3de4e-4700-435a-add1-586224c5838b f3212ce3-7a66-415a-9ef8-f1669ed8940e 11 44104824 44104824 G A SNP ACCS ENST00000263776 human ensembl 74_37 +1 known missense c.1217 p.R406H 0.642 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase - no_errors ACCS HGNC ENSG00000110455 tier1 rs138481594 GMAF=0.0005 81 0 0.00 58 6 9.38 144 0 0.00 109 17 13.49 CCNDBP1 0 genome.wustl.edu 37 15 43483857 43483857 + Missense_Mutation SNP G G A TCGA-QQ-A5V9-01A-11D-A32I-09 TCGA-QQ-A5V9-11A-31D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1ae3de4e-4700-435a-add1-586224c5838b f3212ce3-7a66-415a-9ef8-f1669ed8940e 15 43483857 43483857 G A SNP CCNDBP1 ENST00000300213 human ensembl 74_37 +1 known missense c.844 p.D282N 1.000 NULL NULL - no_errors CCNDBP1 HGNC ENSG00000166946 tier1 - - 19 0 0.00 22 6 21.43 107 0 0.00 62 11 15.07 TBX5 0 genome.wustl.edu 37 12 114793771 114793771 + Missense_Mutation SNP G G A TCGA-QQ-A5V9-01A-11D-A32I-09 TCGA-QQ-A5V9-11A-31D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1ae3de4e-4700-435a-add1-586224c5838b f3212ce3-7a66-415a-9ef8-f1669ed8940e 12 114793771 114793771 G A SNP TBX5 ENST00000310346 human ensembl 74_37 -1 known missense c.1123 p.R375W 1.000 NULL pfam_TF_T-box,superfamily_p53-like_TF_D-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX5 HGNC ENSG00000089225 tier1 - - 54 0 0.00 31 10 24.39 20 0 0.00 11 2 15.38 ADCY2 0 genome.wustl.edu 37 5 7724664 7724664 + Missense_Mutation SNP G G T TCGA-QQ-A5V9-01A-11D-A32I-09 TCGA-QQ-A5V9-11A-31D-A32I-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1ae3de4e-4700-435a-add1-586224c5838b f3212ce3-7a66-415a-9ef8-f1669ed8940e 5 7724664 7724664 G T SNP ADCY2 ENST00000338316 human ensembl 74_37 +1 known missense c.1710 p.W570C 1.000 pfam_Adenylate_cyclase-like pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY2 HGNC ENSG00000078295 tier1 - - 49 0 0.00 46 18 28.12 111 0 0.00 73 19 20.65 OR6T1 0 genome.wustl.edu 37 11 123814023 123814023 + Missense_Mutation SNP C C T TCGA-QQ-A5V9-01A-11D-A32I-09 TCGA-QQ-A5V9-11A-31D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1ae3de4e-4700-435a-add1-586224c5838b f3212ce3-7a66-415a-9ef8-f1669ed8940e 11 123814023 123814023 C T SNP OR6T1 ENST00000321252 human ensembl 74_37 -1 known missense c.523 p.D175N 0.887 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6T1 HGNC ENSG00000181499 tier1 rs149839618 GMAF=0.0005 41 0 0.00 24 6 20.00 120 0 0.00 59 22 27.16 ENSG00000220256 0 genome.wustl.edu 37 2 240702074 240702074 + Nonsense_Mutation SNP C C T TCGA-QQ-A5V9-01A-11D-A32I-09 TCGA-QQ-A5V9-11A-31D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1ae3de4e-4700-435a-add1-586224c5838b f3212ce3-7a66-415a-9ef8-f1669ed8940e 2 240702074 240702074 C T SNP ENSG00000220256 ENST00000407524 human ensembl 74_37 +1 putative nonsense c.124 p.Q42* 0.009 NULL NULL - no_errors AC093802.1 Clone_based_vega_gene ENSG00000220256 tier1 - - 114 0 0.00 78 17 17.89 41 0 0.00 20 4 16.67 TMPRSS15 0 genome.wustl.edu 37 21 19744557 19744557 + Missense_Mutation SNP C C T TCGA-QQ-A5V9-01A-11D-A32I-09 TCGA-QQ-A5V9-11A-31D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1ae3de4e-4700-435a-add1-586224c5838b f3212ce3-7a66-415a-9ef8-f1669ed8940e 21 19744557 19744557 C T SNP TMPRSS15 ENST00000284885 human ensembl 74_37 -1 known missense c.617 p.G206E 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt pfam_Peptidase_S1,pfam_CUB_dom,pfam_MAM_dom,pfam_SEA_dom,pfam_LDrepeatLR_classA_rpt,pfam_Peptidase_S1A_nudel,pfam_SRCR,superfamily_Trypsin-like_Pept_dom,superfamily_ConA-like_lec_gl_sf,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_MAM_dom,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,pfscan_SEA_dom,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt - no_errors TMPRSS15 HGNC ENSG00000154646 tier1 - - 25 0 0.00 31 5 13.89 108 0 0.00 84 11 11.58 PPP3CC 0 genome.wustl.edu 37 8 22380189 22380189 + Missense_Mutation SNP C C A TCGA-QQ-A5V9-01A-11D-A32I-09 TCGA-QQ-A5V9-11A-31D-A32I-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1ae3de4e-4700-435a-add1-586224c5838b f3212ce3-7a66-415a-9ef8-f1669ed8940e 8 22380189 22380189 C A SNP PPP3CC ENST00000240139 human ensembl 74_37 +1 known missense c.870 p.S290R 1.000 smart_Ser/Thr-sp_prot-phosphatase pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP3CC HGNC ENSG00000120910 tier1 - - 31 0 0.00 26 17 39.53 100 0 0.00 33 19 36.54 CDH12 0 genome.wustl.edu 37 5 21765143 21765143 + Missense_Mutation SNP G G A TCGA-QQ-A5V9-01A-11D-A32I-09 TCGA-QQ-A5V9-11A-31D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1ae3de4e-4700-435a-add1-586224c5838b f3212ce3-7a66-415a-9ef8-f1669ed8940e 5 21765143 21765143 G A SNP CDH12 ENST00000382254 human ensembl 74_37 -1 known missense c.1459 p.P487S 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH12 HGNC ENSG00000154162 tier1 - - 47 0 0.00 113 10 8.13 97 0 0.00 97 12 11.01 RRN3P2 0 genome.wustl.edu 37 16 29088081 29088081 + R SNP C C T TCGA-QQ-A5V9-01A-11D-A32I-09 TCGA-QQ-A5V9-11A-31D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1ae3de4e-4700-435a-add1-586224c5838b f3212ce3-7a66-415a-9ef8-f1669ed8940e 16 29088081 29088081 C T SNP RRN3P2 ENST00000427965 human ensembl 74_37 +1 known rna NULL NULL 0.995 - - - no_errors RRN3P2 HGNC ENSG00000103472 tier1 - - 98 0 0.00 99 41 29.29 40 0 0.00 16 9 36.00 DDX58 0 genome.wustl.edu 37 9 32500870 32500870 + Silent SNP G G A TCGA-QQ-A5V9-01A-11D-A32I-09 TCGA-QQ-A5V9-11A-31D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1ae3de4e-4700-435a-add1-586224c5838b f3212ce3-7a66-415a-9ef8-f1669ed8940e 9 32500870 32500870 G A SNP DDX58 ENST00000379883 human ensembl 74_37 -1 known silent c.174 p.L58 0.070 superfamily_DEATH-like_dom pfam_RIG-I_C-RD,pfam_D/R_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_DEATH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX58 HGNC ENSG00000107201 tier1 - - 48 0 0.00 65 15 18.75 132 0 0.00 107 42 28.19 SDK2 0 genome.wustl.edu 37 17 71415397 71415397 + Silent SNP G G A TCGA-QQ-A5V9-01A-11D-A32I-09 TCGA-QQ-A5V9-11A-31D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1ae3de4e-4700-435a-add1-586224c5838b f3212ce3-7a66-415a-9ef8-f1669ed8940e 17 71415397 71415397 G A SNP SDK2 ENST00000392650 human ensembl 74_37 -1 known silent c.2094 p.I698 0.873 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK2 HGNC ENSG00000069188 tier1 - - 51 0 0.00 50 11 18.03 39 0 0.00 36 7 16.28 AMPD3 0 genome.wustl.edu 37 11 10500123 10500123 + Missense_Mutation SNP C C T TCGA-QQ-A5V9-01A-11D-A32I-09 TCGA-QQ-A5V9-11A-31D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1ae3de4e-4700-435a-add1-586224c5838b f3212ce3-7a66-415a-9ef8-f1669ed8940e 11 10500123 10500123 C T SNP AMPD3 ENST00000396553 human ensembl 74_37 +1 known missense c.272 p.P91L 1.000 pirsf_AMP_deaminase pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase - no_errors AMPD3 HGNC ENSG00000133805 tier1 - - 37 0 0.00 43 14 24.56 49 0 0.00 30 10 25.00 FLNC 0 genome.wustl.edu 37 7 128490862 128490862 + Missense_Mutation SNP G G A TCGA-QQ-A5V9-01A-11D-A32I-09 TCGA-QQ-A5V9-11A-31D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1ae3de4e-4700-435a-add1-586224c5838b f3212ce3-7a66-415a-9ef8-f1669ed8940e 7 128490862 128490862 G A SNP FLNC ENST00000325888 human ensembl 74_37 +1 known missense c.5404 p.V1802M 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNC HGNC ENSG00000128591 tier1 - - 44 0 0.00 16 13 44.83 56 0 0.00 16 20 55.56 IFNW1 0 genome.wustl.edu 37 9 21141089 21141089 + Missense_Mutation SNP C C T TCGA-QQ-A5V9-01A-11D-A32I-09 TCGA-QQ-A5V9-11A-31D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1ae3de4e-4700-435a-add1-586224c5838b f3212ce3-7a66-415a-9ef8-f1669ed8940e 9 21141089 21141089 C T SNP IFNW1 ENST00000380229 human ensembl 74_37 -1 known missense c.481 p.D161N 0.019 pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta - no_errors IFNW1 HGNC ENSG00000177047 tier1 - - 46 0 0.00 65 13 16.67 74 0 0.00 55 7 11.11 HAVCR1 0 genome.wustl.edu 37 5 156482233 156482233 + Missense_Mutation SNP C C T TCGA-QQ-A5V9-01A-11D-A32I-09 TCGA-QQ-A5V9-11A-31D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1ae3de4e-4700-435a-add1-586224c5838b f3212ce3-7a66-415a-9ef8-f1669ed8940e 5 156482233 156482233 C T SNP HAVCR1 ENST00000425854 human ensembl 74_37 -1 known missense c.358 p.V120I 0.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors HAVCR1 HGNC ENSG00000113249 tier1 - - 44 0 0.00 36 9 20.00 75 0 0.00 34 12 26.09 PAFAH1B3 0 genome.wustl.edu 37 19 42804136 42804136 + Missense_Mutation SNP G G A TCGA-QQ-A5V9-01A-11D-A32I-09 TCGA-QQ-A5V9-11A-31D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1ae3de4e-4700-435a-add1-586224c5838b f3212ce3-7a66-415a-9ef8-f1669ed8940e 19 42804136 42804136 G A SNP PAFAH1B3 ENST00000262890 human ensembl 74_37 -1 known missense c.394 p.R132W 1.000 NULL NULL - no_errors PAFAH1B3 HGNC ENSG00000079462 tier1 rs200814337 - 58 0 0.00 33 8 19.51 113 0 0.00 68 16 19.05 TP53 0 genome.wustl.edu 37 17 7577046 7577046 + Nonsense_Mutation SNP C C A TCGA-QQ-A5V9-01A-11D-A32I-09 TCGA-QQ-A5V9-11A-31D-A32I-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1ae3de4e-4700-435a-add1-586224c5838b f3212ce3-7a66-415a-9ef8-f1669ed8940e 17 7577046 7577046 C A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known nonsense c.892 p.E298* 0.001 NULL pfam_p53_D-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_D-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 - - 62 0 0.00 22 51 68.92 94 0 0.00 29 58 66.67 ARHGAP32 0 genome.wustl.edu 37 11 128934794 128934794 + Missense_Mutation SNP C C T TCGA-QQ-A5V9-01A-11D-A32I-09 TCGA-QQ-A5V9-11A-31D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1ae3de4e-4700-435a-add1-586224c5838b f3212ce3-7a66-415a-9ef8-f1669ed8940e 11 128934794 128934794 C T SNP ARHGAP32 ENST00000310343 human ensembl 74_37 -1 known missense c.662 p.R221H 1.000 pfam_Phox,superfamily_Phox pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP32 HGNC ENSG00000134909 tier1 - - 62 0 0.00 52 10 16.13 99 0 0.00 66 9 12.00 SLC4A9 0 genome.wustl.edu 37 5 139751126 139751126 + Missense_Mutation SNP C C A TCGA-QQ-A5V9-01A-11D-A32I-09 TCGA-QQ-A5V9-11A-31D-A32I-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1ae3de4e-4700-435a-add1-586224c5838b f3212ce3-7a66-415a-9ef8-f1669ed8940e 5 139751126 139751126 C A SNP SLC4A9 ENST00000230993 human ensembl 74_37 +1 known missense c.2659 p.L887I 1.000 pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A9 HGNC ENSG00000113073 tier1 - - 27 0 0.00 25 6 19.35 55 0 0.00 33 8 19.51 MYLK2 0 genome.wustl.edu 37 20 30418869 30418869 + Missense_Mutation SNP C C T TCGA-QQ-A5V9-01A-11D-A32I-09 TCGA-QQ-A5V9-11A-31D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1ae3de4e-4700-435a-add1-586224c5838b f3212ce3-7a66-415a-9ef8-f1669ed8940e 20 30418869 30418869 C T SNP MYLK2 ENST00000375985 human ensembl 74_37 +1 known missense c.1349 p.S450L 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MYLK2 HGNC ENSG00000101306 tier1 - - 84 0 0.00 159 32 16.67 97 0 0.00 145 33 18.54 RASGRF1 0 genome.wustl.edu 37 15 79350742 79350742 + Silent SNP G G A TCGA-QQ-A5V9-01A-11D-A32I-09 TCGA-QQ-A5V9-11A-31D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1ae3de4e-4700-435a-add1-586224c5838b f3212ce3-7a66-415a-9ef8-f1669ed8940e 15 79350742 79350742 G A SNP RASGRF1 ENST00000419573 human ensembl 74_37 -1 known silent c.465 p.T155 0.009 NULL pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRF1 HGNC ENSG00000058335 tier1 - - 40 0 0.00 22 7 24.14 37 0 0.00 46 7 13.21 IGSF22 0 genome.wustl.edu 37 11 18729766 18729766 + Silent SNP A A G TCGA-QQ-A5V9-01A-11D-A32I-09 TCGA-QQ-A5V9-11A-31D-A32I-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1ae3de4e-4700-435a-add1-586224c5838b f3212ce3-7a66-415a-9ef8-f1669ed8940e 11 18729766 18729766 A G SNP IGSF22 ENST00000513874 human ensembl 74_37 -1 known silent c.3075 p.H1025 0.002 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGSF22 HGNC ENSG00000179057 tier1 - - 39 0 0.00 34 8 19.05 98 0 0.00 34 12 26.09 IKZF4 0 genome.wustl.edu 37 12 56427018 56427018 + Missense_Mutation SNP C C T TCGA-QQ-A5V9-01A-11D-A32I-09 TCGA-QQ-A5V9-11A-31D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1ae3de4e-4700-435a-add1-586224c5838b f3212ce3-7a66-415a-9ef8-f1669ed8940e 12 56427018 56427018 C T SNP IKZF4 ENST00000262032 human ensembl 74_37 +1 known missense c.910 p.H304Y 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors IKZF4 HGNC ENSG00000123411 tier1 - - 43 0 0.00 35 14 28.57 75 0 0.00 46 13 22.03 PTPN18 0 genome.wustl.edu 37 2 131128341 131128341 + Missense_Mutation SNP G G A TCGA-QQ-A5V9-01A-11D-A32I-09 TCGA-QQ-A5V9-11A-31D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1ae3de4e-4700-435a-add1-586224c5838b f3212ce3-7a66-415a-9ef8-f1669ed8940e 2 131128341 131128341 G A SNP PTPN18 ENST00000175756 human ensembl 74_37 +1 known missense c.820 p.A274T 0.001 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN18 HGNC ENSG00000072135 tier1 - - 42 0 0.00 26 9 25.71 56 0 0.00 17 7 29.17 ENSG00000229481 0 genome.wustl.edu 37 19 38321666 38321666 + R SNP G G A TCGA-QQ-A5V9-01A-11D-A32I-09 TCGA-QQ-A5V9-11A-31D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1ae3de4e-4700-435a-add1-586224c5838b f3212ce3-7a66-415a-9ef8-f1669ed8940e 19 38321666 38321666 G A SNP ENSG00000229481 ENST00000443870 human ensembl 74_37 +1 known rna NULL NULL 0.099 - - - no_errors CTD-2554C21.3 Clone_based_vega_gene ENSG00000229481 tier1 - - 42 0 0.00 36 5 12.20 87 0 0.00 39 5 11.36 ENSG00000267260 0 genome.wustl.edu 37 19 37266356 37266356 + Missense_Mutation SNP C C T TCGA-QQ-A5V9-01A-11D-A32I-09 TCGA-QQ-A5V9-11A-31D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1ae3de4e-4700-435a-add1-586224c5838b f3212ce3-7a66-415a-9ef8-f1669ed8940e 19 37266356 37266356 C T SNP ENSG00000267260 ENST00000590750 human ensembl 74_37 +1 putative missense c.202 p.R68C 0.029 NULL NULL - no_errors CTD-2162K18.4 Clone_based_vega_gene ENSG00000267260 tier1 - - 115 0 0.00 56 35 38.46 139 1 0.71 76 34 30.91 PAX6 0 genome.wustl.edu 37 11 31823240 31823240 + Missense_Mutation SNP G G A TCGA-QQ-A5V9-01A-11D-A32I-09 TCGA-QQ-A5V9-11A-31D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1ae3de4e-4700-435a-add1-586224c5838b f3212ce3-7a66-415a-9ef8-f1669ed8940e 11 31823240 31823240 G A SNP PAX6 ENST00000379107 human ensembl 74_37 -1 known missense c.268 p.P90S 1.000 pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,prints_Paired_dom,pfscan_Paired_dom pfam_Paired_dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,prints_Paired_dom,pfscan_Homeobox_dom,pfscan_Paired_dom - no_errors PAX6 HGNC ENSG00000007372 tier1 - - 54 0 0.00 57 14 19.72 108 0 0.00 43 12 21.82 NCKAP1 0 genome.wustl.edu 37 2 183817934 183817934 + Frame_Shift_Del DEL T T - TCGA-QQ-A5V9-01A-11D-A32I-09 TCGA-QQ-A5V9-11A-31D-A32I-09 T T T - T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1ae3de4e-4700-435a-add1-586224c5838b f3212ce3-7a66-415a-9ef8-f1669ed8940e 2 183817934 183817934 T - DEL NCKAP1 ENST00000360982 human ensembl 74_37 -1 known frame_shift_del c.2297 p.D766fs 1.000 pfam_Nck-associated_protein-1 pfam_Nck-associated_protein-1 - no_errors NCKAP1 HGNC ENSG00000061676 tier1 66 0 0.00 62 17 21.52 120 0 0.00 58 13 18.31 HMBOX1 0 genome.wustl.edu 37 8 28909077 28909086 + Frame_Shift_Del DEL GGATGCAAGC GGATGCAAGC - TCGA-QQ-A5V9-01A-11D-A32I-09 TCGA-QQ-A5V9-11A-31D-A32I-09 GGATGCAAGC GGATGCAAGC GGATGCAAGC - GGATGCAAGC GGATGCAAGC Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1ae3de4e-4700-435a-add1-586224c5838b f3212ce3-7a66-415a-9ef8-f1669ed8940e 8 28909077 28909086 GGATGCAAGC - DEL HMBOX1 ENST00000355231 human ensembl 74_37 +1 putative frame_shift_del c.1130_1139 p.R377fs 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 NULL pfam_HNF-1_N,pfam_Homeobox_dom,superfamily_Lambda_D-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HMBOX1 HGNC ENSG00000147421 tier1 117 0 0.00 58 8 12.12 117 0 0.00 58 8 12.12 NEB 0 genome.wustl.edu 37 2 152548372 152548377 + Splice_Site DEL ACTTAC ACTTAC - TCGA-QQ-A5V9-01A-11D-A32I-09 TCGA-QQ-A5V9-11A-31D-A32I-09 ACTTAC ACTTAC ACTTAC - ACTTAC ACTTAC Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1ae3de4e-4700-435a-add1-586224c5838b f3212ce3-7a66-415a-9ef8-f1669ed8940e 2 152548372 152548377 ACTTAC - DEL NEB ENST00000397345 human ensembl 74_37 -1 known splice_site_del c.2211+1_2211+1 e21+1 0.753:1.000:1.000:1.000:1.000:1.000 - - - no_errors NEB HGNC ENSG00000183091 tier1 137 0 0.00 64 30 31.91 137 0 0.00 64 30 31.91 ACOT11 0 genome.wustl.edu 37 1 55050380 55050380 + Missense_Mutation SNP C C T TCGA-QQ-A5V9-01A-11D-A32I-09 TCGA-QQ-A5V9-11A-31D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1ae3de4e-4700-435a-add1-586224c5838b f3212ce3-7a66-415a-9ef8-f1669ed8940e 1 55050380 55050380 C T SNP ACOT11 ENST00000371316 human ensembl 74_37 +1 known missense c.86 p.A29V 0.014 NULL pfam_START_lipid-bd_dom,pfam_Thioestr_supf,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom - no_errors ACOT11 HGNC ENSG00000162390 tier1 rs150203501 - 65 0 0.00 15 33 68.75 66 0 0.00 8 40 83.33 BCL9L 0 genome.wustl.edu 37 11 118771359 118771359 + Silent SNP G G A TCGA-QQ-A5V9-01A-11D-A32I-09 TCGA-QQ-A5V9-11A-31D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1ae3de4e-4700-435a-add1-586224c5838b f3212ce3-7a66-415a-9ef8-f1669ed8940e 11 118771359 118771359 G A SNP BCL9L ENST00000334801 human ensembl 74_37 -1 known silent c.3093 p.N1031 1.000 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9L HGNC ENSG00000186174 tier1 - - 24 0 0.00 7 15 68.18 51 1 1.92 7 22 75.86 CCDC88C 0 genome.wustl.edu 37 14 91744358 91744358 + Missense_Mutation SNP C C T TCGA-QQ-A5V9-01A-11D-A32I-09 TCGA-QQ-A5V9-11A-31D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1ae3de4e-4700-435a-add1-586224c5838b f3212ce3-7a66-415a-9ef8-f1669ed8940e 14 91744358 91744358 C T SNP CCDC88C ENST00000389857 human ensembl 74_37 -1 known missense c.4966 p.V1656I 0.000 NULL pfam_Hook-related_fam,superfamily_Prefoldin,superfamily_Fum_Rdtase/Succ_DH_flav-like_C - no_errors CCDC88C HGNC ENSG00000015133 tier1 - - 64 0 0.00 42 14 25.00 11 0 0.00 5 2 28.57 HDAC7 0 genome.wustl.edu 37 12 48189100 48189100 + Missense_Mutation SNP G G C TCGA-QQ-A5V9-01A-11D-A32I-09 TCGA-QQ-A5V9-11A-31D-A32I-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1ae3de4e-4700-435a-add1-586224c5838b f3212ce3-7a66-415a-9ef8-f1669ed8940e 12 48189100 48189100 G C SNP HDAC7 ENST00000380610 human ensembl 74_37 -1 known missense c.1202 p.S401C 0.883 pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC7 HGNC ENSG00000061273 tier1 - - 96 0 0.00 43 44 50.57 17 0 0.00 5 6 54.55 GRIN3A 0 genome.wustl.edu 37 9 104335644 104335644 + Missense_Mutation SNP C C T TCGA-QQ-A5V9-01A-11D-A32I-09 TCGA-QQ-A5V9-11A-31D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1ae3de4e-4700-435a-add1-586224c5838b f3212ce3-7a66-415a-9ef8-f1669ed8940e 9 104335644 104335644 C T SNP GRIN3A ENST00000361820 human ensembl 74_37 -1 known missense c.3160 p.E1054K 1.000 NULL pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,prints_NMDA_rcpt - no_errors GRIN3A HGNC ENSG00000198785 tier1 - - 45 0 0.00 57 5 8.06 81 0 0.00 88 7 7.37 DH5 0 genome.wustl.edu 37 5 13922290 13922290 + Missense_Mutation SNP G G A TCGA-QQ-A5V9-01A-11D-A32I-09 TCGA-QQ-A5V9-11A-31D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1ae3de4e-4700-435a-add1-586224c5838b f3212ce3-7a66-415a-9ef8-f1669ed8940e 5 13922290 13922290 G A SNP DH5 ENST00000265104 human ensembl 74_37 -1 known missense c.586 p.R196C 0.152 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DH5 HGNC ENSG00000039139 tier1 rs200314274 - 60 0 0.00 89 9 9.18 53 0 0.00 55 5 8.33 MACF1 0 genome.wustl.edu 37 1 39823522 39823522 + Missense_Mutation SNP A A T TCGA-QQ-A5V9-01A-11D-A32I-09 TCGA-QQ-A5V9-11A-31D-A32I-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1ae3de4e-4700-435a-add1-586224c5838b f3212ce3-7a66-415a-9ef8-f1669ed8940e 1 39823522 39823522 A T SNP MACF1 ENST00000317713 human ensembl 74_37 +1 known missense c.5714 p.K1905M 0.999 smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors MACF1 HGNC ENSG00000127603 tier1 - - 56 0 0.00 46 10 17.86 124 0 0.00 96 10 9.43 RASGRF1 0 genome.wustl.edu 37 15 79298606 79298606 + Missense_Mutation SNP C C T TCGA-QQ-A5V9-01A-11D-A32I-09 TCGA-QQ-A5V9-11A-31D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1ae3de4e-4700-435a-add1-586224c5838b f3212ce3-7a66-415a-9ef8-f1669ed8940e 15 79298606 79298606 C T SNP RASGRF1 ENST00000419573 human ensembl 74_37 -1 known missense c.2036 p.R679H 1.000 pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRF1 HGNC ENSG00000058335 tier1 - - 53 0 0.00 49 10 16.95 103 0 0.00 79 5 5.95 KIAA0947 0 genome.wustl.edu 37 5 5460964 5460964 + Missense_Mutation SNP G G A TCGA-QQ-A5V9-01A-11D-A32I-09 TCGA-QQ-A5V9-11A-31D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1ae3de4e-4700-435a-add1-586224c5838b f3212ce3-7a66-415a-9ef8-f1669ed8940e 5 5460964 5460964 G A SNP KIAA0947 ENST00000296564 human ensembl 74_37 +1 known missense c.1517 p.R506Q 0.000 NULL superfamily_Vitellinogen_superhlx - no_errors KIAA0947 HGNC ENSG00000164151 tier1 - - 31 0 0.00 55 10 15.38 107 0 0.00 111 10 8.26 IPO5 0 genome.wustl.edu 37 13 98655019 98655019 + Missense_Mutation SNP C C T TCGA-QQ-A5V9-01A-11D-A32I-09 TCGA-QQ-A5V9-11A-31D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1ae3de4e-4700-435a-add1-586224c5838b f3212ce3-7a66-415a-9ef8-f1669ed8940e 13 98655019 98655019 C T SNP IPO5 ENST00000261574 human ensembl 74_37 +1 known missense c.1369 p.H457Y 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold,pfscan_Importin-beta_N - no_errors IPO5 HGNC ENSG00000065150 tier1 - - 11 0 0.00 12 10 45.45 124 2 1.59 38 16 29.63 FAM182B 0 genome.wustl.edu 37 20 25755864 25755864 + Missense_Mutation SNP C C T TCGA-QQ-A5V9-01A-11D-A32I-09 TCGA-QQ-A5V9-11A-31D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1ae3de4e-4700-435a-add1-586224c5838b f3212ce3-7a66-415a-9ef8-f1669ed8940e 20 25755864 25755864 C T SNP FAM182B ENST00000376404 human ensembl 74_37 -1 known missense c.83 p.G28E 0.317 NULL NULL - no_errors FAM182B HGNC ENSG00000175170 tier1 - - 53 0 0.00 52 10 16.13 36 1 2.70 20 10 33.33 AGFG2 0 genome.wustl.edu 37 7 100163512 100163512 + R DEL C C - TCGA-QQ-A5V9-01A-11D-A32I-09 TCGA-QQ-A5V9-11A-31D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1ae3de4e-4700-435a-add1-586224c5838b f3212ce3-7a66-415a-9ef8-f1669ed8940e 7 100163512 100163512 C - DEL AGFG2 ENST00000474713 human ensembl 74_37 +1 known rna NULL NULL 0.013 - - - no_errors AGFG2 HGNC ENSG00000106351 tier1 28 0 0.00 38 4 9.52 6 0 0.00 8 0 0.00 CARD10 0 genome.wustl.edu 37 22 37904671 37904671 + Frame_Shift_Del DEL C C - TCGA-QQ-A5V9-01A-11D-A32I-09 TCGA-QQ-A5V9-11A-31D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1ae3de4e-4700-435a-add1-586224c5838b f3212ce3-7a66-415a-9ef8-f1669ed8940e 22 37904671 37904671 C - DEL CARD10 ENST00000251973 human ensembl 74_37 -1 known frame_shift_del c.928 p.A310fs 0.999 NULL pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD - no_errors CARD10 HGNC ENSG00000100065 tier1 16 0 0.00 22 2 8.33 0 0 0.00 6 0 0.00 ENSG00000260158 0 genome.wustl.edu 37 16 32822096 32822096 + R SNP C C A TCGA-QQ-A5V9-01A-11D-A32I-09 TCGA-QQ-A5V9-11A-31D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1ae3de4e-4700-435a-add1-586224c5838b f3212ce3-7a66-415a-9ef8-f1669ed8940e 16 32822096 32822096 C A SNP ENSG00000260158 ENST00000569859 human ensembl 74_37 +1 known rna NULL NULL 0.676 - - - no_errors RP11-67H24.2 Clone_based_vega_gene ENSG00000260158 tier1 - - 10 0 0.00 14 12 46.15 0 0 0.00 0 0 0.00 FAM230A 0 genome.wustl.edu 37 22 20709096 20709096 + Silent SNP C C T TCGA-QQ-A5V9-01A-11D-A32I-09 TCGA-QQ-A5V9-11A-31D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1ae3de4e-4700-435a-add1-586224c5838b f3212ce3-7a66-415a-9ef8-f1669ed8940e 22 20709096 20709096 C T SNP FAM230A ENST00000434783 human ensembl 74_37 +1 known silent c.828 p.N276 0.029 superfamily_Kinase-like_dom pfam_Ret-finger_pr-like_3_antisense,superfamily_Kinase-like_dom - no_errors FAM230A HGNC ENSG00000188280 tier1 - - 108 0 0.00 90 16 14.55 1 0 0.00 6 0 0.00 LINC00200 0 genome.wustl.edu 37 10 1205736 1205736 + R SNP A A G TCGA-QQ-A5V9-01A-11D-A32I-09 TCGA-QQ-A5V9-11A-31D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1ae3de4e-4700-435a-add1-586224c5838b f3212ce3-7a66-415a-9ef8-f1669ed8940e 10 1205736 1205736 A G SNP LINC00200 ENST00000425630 human ensembl 74_37 +1 known rna NULL NULL 0.155 - - - no_errors LINC00200 HGNC ENSG00000229205 tier1 rs60415666 - 18 0 0.00 14 5 26.32 2 0 0.00 0 0 0.00 ZNF358 0 genome.wustl.edu 37 19 7584581 7584581 + Silent SNP C C T TCGA-QQ-A5V9-01A-11D-A32I-09 TCGA-QQ-A5V9-11A-31D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1ae3de4e-4700-435a-add1-586224c5838b f3212ce3-7a66-415a-9ef8-f1669ed8940e 19 7584581 7584581 C T SNP ZNF358 ENST00000394341 human ensembl 74_37 +1 known silent c.453 p.F151 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF358 HGNC ENSG00000198816 tier1 - - 22 0 0.00 31 8 20.51 0 0 0.00 1 0 0.00 RFPL4A 0 genome.wustl.edu 37 19 56274126 56274126 + Missense_Mutation SNP G G A TCGA-QQ-A5V9-01A-11D-A32I-09 TCGA-QQ-A5V9-11A-31D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1ae3de4e-4700-435a-add1-586224c5838b f3212ce3-7a66-415a-9ef8-f1669ed8940e 19 56274126 56274126 G A SNP RFPL4A ENST00000434937 human ensembl 74_37 +1 novel missense c.449 p.R150H 0.116 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY pfam_RDM_domain_RFPL,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_RING - no_errors RFPL4A HGNC ENSG00000223638 tier1 - - 185 1 0.53 132 17 11.41 97 0 0.00 86 2 2.27