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 PCLO 0 genome.wustl.edu 37 7 82784233 82784233 + Missense_Mutation SNP G G C TCGA-DX-A2IZ-01A-11D-A21Q-09 TCGA-DX-A2IZ-10A-01D-A21Q-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67bb70b2-b6f8-4aa9-80ce-48829f9fec56 9dc2fa01-ef68-44ce-98d0-dddcb6ef4f46 7 82784233 82784233 G C SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.1724 p.S575C 0.665 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 tier1 - - 129 0 0.00 63 47 42.73 78 1 1.27 56 56 50.00 GALNT5 0 genome.wustl.edu 37 2 158115495 158115495 + Missense_Mutation SNP T T G TCGA-DX-A2IZ-01A-11D-A21Q-09 TCGA-DX-A2IZ-10A-01D-A21Q-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67bb70b2-b6f8-4aa9-80ce-48829f9fec56 9dc2fa01-ef68-44ce-98d0-dddcb6ef4f46 2 158115495 158115495 T G SNP GALNT5 ENST00000259056 human ensembl 74_37 +1 known missense c.901 p.L301V 0.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT5 HGNC ENSG00000136542 tier1 - - 24 0 0.00 14 8 36.36 105 0 0.00 61 46 42.99 LOC652276 0 genome.wustl.edu 37 16 2653400 2653400 + R SNP C C G TCGA-DX-A2IZ-01A-11D-A21Q-09 TCGA-DX-A2IZ-10A-01D-A21Q-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67bb70b2-b6f8-4aa9-80ce-48829f9fec56 9dc2fa01-ef68-44ce-98d0-dddcb6ef4f46 16 2653400 2653400 C G SNP LOC652276 ENST00000399702 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors AC141586.5 Clone_based_vega_gene ENSG00000215154 tier1 - - 47 0 0.00 34 20 37.04 90 0 0.00 60 44 42.31 TESPA1 0 genome.wustl.edu 37 12 55354969 55354969 + Missense_Mutation SNP G G A TCGA-DX-A2IZ-01A-11D-A21Q-09 TCGA-DX-A2IZ-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67bb70b2-b6f8-4aa9-80ce-48829f9fec56 9dc2fa01-ef68-44ce-98d0-dddcb6ef4f46 12 55354969 55354969 G A SNP TESPA1 ENST00000316577 human ensembl 74_37 -1 known missense c.1550 p.A517V 0.001 NULL NULL - no_errors TESPA1 HGNC ENSG00000135426 tier1 - - 35 0 0.00 253 81 24.25 98 0 0.00 690 251 26.56 I 0 genome.wustl.edu 37 10 105038013 105038013 + Missense_Mutation SNP G G A TCGA-DX-A2IZ-01A-11D-A21Q-09 TCGA-DX-A2IZ-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67bb70b2-b6f8-4aa9-80ce-48829f9fec56 9dc2fa01-ef68-44ce-98d0-dddcb6ef4f46 10 105038013 105038013 G A SNP I ENST00000369849 human ensembl 74_37 +1 known missense c.1045 p.A349T 0.984 pfam_IF pfam_IF,pfam_Intermed_filament_D-bd,superfamily_Prefoldin - no_errors I HGNC ENSG00000148798 tier1 - - 51 0 0.00 13 20 60.61 17 0 0.00 12 14 53.85 PTPRC 0 genome.wustl.edu 37 1 198685967 198685967 + Missense_Mutation SNP C C T TCGA-DX-A2IZ-01A-11D-A21Q-09 TCGA-DX-A2IZ-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67bb70b2-b6f8-4aa9-80ce-48829f9fec56 9dc2fa01-ef68-44ce-98d0-dddcb6ef4f46 1 198685967 198685967 C T SNP PTPRC ENST00000442510 human ensembl 74_37 +1 known missense c.1448 p.A483V 0.000 pirsf_Leukocyte_common_ag,superfamily_Fibronectin_type3 pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRC HGNC ENSG00000081237 tier1 - - 51 0 0.00 16 11 40.74 96 0 0.00 53 46 46.46 FAT3 0 genome.wustl.edu 37 11 92534174 92534174 + Missense_Mutation SNP T T G TCGA-DX-A2IZ-01A-11D-A21Q-09 TCGA-DX-A2IZ-10A-01D-A21Q-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67bb70b2-b6f8-4aa9-80ce-48829f9fec56 9dc2fa01-ef68-44ce-98d0-dddcb6ef4f46 11 92534174 92534174 T G SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.7995 p.N2665K 0.763 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 tier1 - - 47 0 0.00 24 20 45.45 101 0 0.00 52 39 42.86 CEP290 0 genome.wustl.edu 37 12 88505602 88505602 + Missense_Mutation SNP C C G TCGA-DX-A2IZ-01A-11D-A21Q-09 TCGA-DX-A2IZ-10A-01D-A21Q-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67bb70b2-b6f8-4aa9-80ce-48829f9fec56 9dc2fa01-ef68-44ce-98d0-dddcb6ef4f46 12 88505602 88505602 C G SNP CEP290 ENST00000309041 human ensembl 74_37 -1 known missense c.2092 p.D698H 1.000 NULL NULL - no_errors CEP290 HGNC ENSG00000198707 tier1 - - 62 0 0.00 33 278 89.39 78 0 0.00 52 487 90.02 EPHB2 0 genome.wustl.edu 37 1 23111370 23111370 + Silent SNP C C T TCGA-DX-A2IZ-01A-11D-A21Q-09 TCGA-DX-A2IZ-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67bb70b2-b6f8-4aa9-80ce-48829f9fec56 9dc2fa01-ef68-44ce-98d0-dddcb6ef4f46 1 23111370 23111370 C T SNP EPHB2 ENST00000400191 human ensembl 74_37 +1 known silent c.612 p.G204 0.239 pirsf_Tyr_kinase_ephrin_rcpt pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHB2 HGNC ENSG00000133216 tier1 - - 64 0 0.00 62 7 10.14 31 0 0.00 28 5 15.15 ZHX3 0 genome.wustl.edu 37 20 39833134 39833134 + Silent SNP G G A TCGA-DX-A2IZ-01A-11D-A21Q-09 TCGA-DX-A2IZ-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67bb70b2-b6f8-4aa9-80ce-48829f9fec56 9dc2fa01-ef68-44ce-98d0-dddcb6ef4f46 20 39833134 39833134 G A SNP ZHX3 ENST00000309060 human ensembl 74_37 -1 known silent c.423 p.N141 0.974 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors ZHX3 HGNC ENSG00000174306 tier1 rs113667928 - 33 0 0.00 14 14 50.00 59 0 0.00 29 28 48.28 SERPINB1 0 genome.wustl.edu 37 6 2840713 2840713 + Silent SNP T T G TCGA-DX-A2IZ-01A-11D-A21Q-09 TCGA-DX-A2IZ-10A-01D-A21Q-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67bb70b2-b6f8-4aa9-80ce-48829f9fec56 9dc2fa01-ef68-44ce-98d0-dddcb6ef4f46 6 2840713 2840713 T G SNP SERPINB1 ENST00000380739 human ensembl 74_37 -1 known silent c.108 p.S36 0.029 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB1 HGNC ENSG00000021355 tier1 - - 79 0 0.00 57 24 29.63 76 0 0.00 48 49 50.52 CEP290 0 genome.wustl.edu 37 12 88505548 88505548 + Missense_Mutation SNP C C T TCGA-DX-A2IZ-01A-11D-A21Q-09 TCGA-DX-A2IZ-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67bb70b2-b6f8-4aa9-80ce-48829f9fec56 9dc2fa01-ef68-44ce-98d0-dddcb6ef4f46 12 88505548 88505548 C T SNP CEP290 ENST00000309041 human ensembl 74_37 -1 known missense c.2146 p.E716K 1.000 NULL NULL - no_errors CEP290 HGNC ENSG00000198707 tier1 - - 81 0 0.00 41 368 89.98 99 1 1.00 51 599 92.15 FSTL4 0 genome.wustl.edu 37 5 132545944 132545944 + Missense_Mutation SNP G G A TCGA-DX-A2IZ-01A-11D-A21Q-09 TCGA-DX-A2IZ-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67bb70b2-b6f8-4aa9-80ce-48829f9fec56 9dc2fa01-ef68-44ce-98d0-dddcb6ef4f46 5 132545944 132545944 G A SNP FSTL4 ENST00000265342 human ensembl 74_37 -1 known missense c.1655 p.S552L 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Kazal_dom,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_hand_dom,pfscan_Ig-like_dom - no_errors FSTL4 HGNC ENSG00000053108 tier1 - - 52 0 0.00 17 20 54.05 53 0 0.00 32 37 53.62 ENSG00000229481 0 genome.wustl.edu 37 19 38321280 38321280 + R SNP C C T TCGA-DX-A2IZ-01A-11D-A21Q-09 TCGA-DX-A2IZ-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67bb70b2-b6f8-4aa9-80ce-48829f9fec56 9dc2fa01-ef68-44ce-98d0-dddcb6ef4f46 19 38321280 38321280 C T SNP ENSG00000229481 ENST00000443870 human ensembl 74_37 +1 known rna NULL NULL 0.096 - - - no_errors CTD-2554C21.3 Clone_based_vega_gene ENSG00000229481 tier1 - - 75 0 0.00 33 33 50.00 108 0 0.00 65 69 51.49 TRIM9 0 genome.wustl.edu 37 14 51446051 51446051 + Silent SNP C C T TCGA-DX-A2IZ-01A-11D-A21Q-09 TCGA-DX-A2IZ-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67bb70b2-b6f8-4aa9-80ce-48829f9fec56 9dc2fa01-ef68-44ce-98d0-dddcb6ef4f46 14 51446051 51446051 C T SNP TRIM9 ENST00000338969 human ensembl 74_37 -1 known silent c.2367 p.R789 0.310 NULL pfam_SPRY_rcpt,pfam_Fibronectin_type3,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM9 HGNC ENSG00000100505 tier1 - - 68 0 0.00 23 12 34.29 79 0 0.00 49 44 47.31 DH12 0 genome.wustl.edu 37 3 57443570 57443570 + Nonsense_Mutation SNP G G A TCGA-DX-A2IZ-01A-11D-A21Q-09 TCGA-DX-A2IZ-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67bb70b2-b6f8-4aa9-80ce-48829f9fec56 9dc2fa01-ef68-44ce-98d0-dddcb6ef4f46 3 57443570 57443570 G A SNP DH12 ENST00000351747 human ensembl 74_37 -1 known nonsense c.3145 p.R1049* 1.000 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DH12 HGNC ENSG00000174844 tier1 - - 58 0 0.00 19 16 45.71 73 0 0.00 48 45 48.39 ENSG00000259966 0 genome.wustl.edu 37 16 32618890 32618890 + R SNP G G T TCGA-DX-A2IZ-01A-11D-A21Q-09 TCGA-DX-A2IZ-10A-01D-A21Q-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67bb70b2-b6f8-4aa9-80ce-48829f9fec56 9dc2fa01-ef68-44ce-98d0-dddcb6ef4f46 16 32618890 32618890 G T SNP ENSG00000259966 ENST00000562976 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-652G5.1 Clone_based_vega_gene ENSG00000259966 tier1 - - 56 0 0.00 38 20 34.48 14 0 0.00 11 9 45.00 AK7 0 genome.wustl.edu 37 14 96875257 96875257 + Silent SNP G G A TCGA-DX-A2IZ-01A-11D-A21Q-09 TCGA-DX-A2IZ-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67bb70b2-b6f8-4aa9-80ce-48829f9fec56 9dc2fa01-ef68-44ce-98d0-dddcb6ef4f46 14 96875257 96875257 G A SNP AK7 ENST00000267584 human ensembl 74_37 +1 known silent c.477 p.A159 0.372 NULL pfam_Dpy-30_motif,pfam_Adenylate_kin,superfamily_P-loop_NTPase - no_errors AK7 HGNC ENSG00000140057 tier1 - - 71 0 0.00 196 23 10.50 84 0 0.00 337 49 12.69 REV3L 0 genome.wustl.edu 37 6 111680107 111680107 + Silent SNP A A C TCGA-DX-A2IZ-01A-11D-A21Q-09 TCGA-DX-A2IZ-10A-01D-A21Q-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67bb70b2-b6f8-4aa9-80ce-48829f9fec56 9dc2fa01-ef68-44ce-98d0-dddcb6ef4f46 6 111680107 111680107 A C SNP REV3L ENST00000358835 human ensembl 74_37 -1 known silent c.6990 p.S2330 0.996 pfam_D-dir_D_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_D-dir_D_pol_B pfam_D-dir_D_pol_B_multi_dom,pfam_D-dir_D_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_D-dir_D_pol_B,prints_D-dir_D_pol_B - no_errors REV3L HGNC ENSG00000009413 tier1 - - 57 0 0.00 25 11 30.56 93 0 0.00 68 50 42.37 LRP1 0 genome.wustl.edu 37 12 57572170 57572170 + Missense_Mutation SNP G G T TCGA-DX-A2IZ-01A-11D-A21Q-09 TCGA-DX-A2IZ-10A-01D-A21Q-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67bb70b2-b6f8-4aa9-80ce-48829f9fec56 9dc2fa01-ef68-44ce-98d0-dddcb6ef4f46 12 57572170 57572170 G T SNP LRP1 ENST00000243077 human ensembl 74_37 +1 known missense c.4390 p.D1464Y 1.000 smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1 HGNC ENSG00000123384 tier1 - - 53 0 0.00 230 112 32.75 45 0 0.00 309 131 29.77 RGR 0 genome.wustl.edu 37 10 86007502 86007502 + Missense_Mutation SNP C C T TCGA-DX-A2IZ-01A-11D-A21Q-09 TCGA-DX-A2IZ-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67bb70b2-b6f8-4aa9-80ce-48829f9fec56 9dc2fa01-ef68-44ce-98d0-dddcb6ef4f46 10 86007502 86007502 C T SNP RGR ENST00000359452 human ensembl 74_37 +1 known missense c.235 p.R79C 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_RPE_GPCR,prints_GPCR_Rhodpsn - no_errors RGR HGNC ENSG00000148604 tier1 rs201335015 - 69 0 0.00 30 17 36.17 62 0 0.00 26 16 38.10 SYNM 0 genome.wustl.edu 37 15 99673642 99673642 + R SNP G G C TCGA-DX-A2IZ-01A-11D-A21Q-09 TCGA-DX-A2IZ-10A-01D-A21Q-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67bb70b2-b6f8-4aa9-80ce-48829f9fec56 9dc2fa01-ef68-44ce-98d0-dddcb6ef4f46 15 99673642 99673642 G C SNP SYNM ENST00000558420 human ensembl 74_37 +1 known rna NULL NULL 0.008 - - - no_errors SYNM HGNC ENSG00000182253 tier1 - - 20 0 0.00 10 9 47.37 59 0 0.00 36 46 56.10 PLEKHG4B 0 genome.wustl.edu 37 5 173084 173084 + Missense_Mutation SNP C C G TCGA-DX-A2IZ-01A-11D-A21Q-09 TCGA-DX-A2IZ-10A-01D-A21Q-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67bb70b2-b6f8-4aa9-80ce-48829f9fec56 9dc2fa01-ef68-44ce-98d0-dddcb6ef4f46 5 173084 173084 C G SNP PLEKHG4B ENST00000283426 human ensembl 74_37 +1 known missense c.3055 p.L1019V 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG4B HGNC ENSG00000153404 tier1 - - 117 1 0.85 86 369 81.10 87 0 0.00 110 502 82.03 MBD6 0 genome.wustl.edu 37 12 57918117 57918117 + Missense_Mutation SNP G G A TCGA-DX-A2IZ-01A-11D-A21Q-09 TCGA-DX-A2IZ-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67bb70b2-b6f8-4aa9-80ce-48829f9fec56 9dc2fa01-ef68-44ce-98d0-dddcb6ef4f46 12 57918117 57918117 G A SNP MBD6 ENST00000355673 human ensembl 74_37 +1 known missense c.31 p.D11N 1.000 superfamily_D-bd_dom,pfscan_Methyl_CpG_D-bd superfamily_D-bd_dom,smart_Methyl_CpG_D-bd,pfscan_Methyl_CpG_D-bd - no_errors MBD6 HGNC ENSG00000166987 tier1 - - 56 0 0.00 524 116 18.12 37 0 0.00 337 70 17.16 MET 0 genome.wustl.edu 37 7 116371840 116371840 + Missense_Mutation SNP C C T TCGA-DX-A2IZ-01A-11D-A21Q-09 TCGA-DX-A2IZ-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67bb70b2-b6f8-4aa9-80ce-48829f9fec56 9dc2fa01-ef68-44ce-98d0-dddcb6ef4f46 7 116371840 116371840 C T SNP MET ENST00000318493 human ensembl 74_37 +1 known missense c.1319 p.T440I 1.000 pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom - no_errors MET HGNC ENSG00000105976 tier1 - - 69 0 0.00 44 17 27.87 66 0 0.00 58 22 27.50 TRIM22 0 genome.wustl.edu 37 11 5730822 5730822 + Missense_Mutation SNP T T C TCGA-DX-A2IZ-01A-11D-A21Q-09 TCGA-DX-A2IZ-10A-01D-A21Q-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67bb70b2-b6f8-4aa9-80ce-48829f9fec56 9dc2fa01-ef68-44ce-98d0-dddcb6ef4f46 11 5730822 5730822 T C SNP TRIM22 ENST00000379965 human ensembl 74_37 +1 known missense c.1441 p.Y481H 0.976 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_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM22 HGNC ENSG00000132274 tier1 - - 39 0 0.00 28 16 36.36 61 0 0.00 31 40 56.34 CCT2 0 genome.wustl.edu 37 12 69986852 69986852 + Missense_Mutation SNP C C G TCGA-DX-A2IZ-01A-11D-A21Q-09 TCGA-DX-A2IZ-10A-01D-A21Q-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67bb70b2-b6f8-4aa9-80ce-48829f9fec56 9dc2fa01-ef68-44ce-98d0-dddcb6ef4f46 12 69986852 69986852 C G SNP CCT2 ENST00000299300 human ensembl 74_37 +1 known missense c.847 p.L283V 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,tigrfam_Chap_CCT_beta pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_beta - no_errors CCT2 HGNC ENSG00000166226 tier1 - - 63 0 0.00 29 219 88.31 121 0 0.00 83 438 84.07 CHN1 0 genome.wustl.edu 37 2 175666532 175666532 + Missense_Mutation SNP C C A TCGA-DX-A2IZ-01A-11D-A21Q-09 TCGA-DX-A2IZ-10A-01D-A21Q-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67bb70b2-b6f8-4aa9-80ce-48829f9fec56 9dc2fa01-ef68-44ce-98d0-dddcb6ef4f46 2 175666532 175666532 C A SNP CHN1 ENST00000409900 human ensembl 74_37 -1 known missense c.1111 p.D371Y 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pirsf_N-chimaerin,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SH2,superfamily_Rho_GTPase_activation_prot,smart_SH2,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pirsf_N-chimaerin,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_DAG/PE-bd - no_errors CHN1 HGNC ENSG00000128656 tier1 - - 51 0 0.00 25 16 39.02 66 0 0.00 71 40 36.04 RASGRF1 0 genome.wustl.edu 37 15 79292172 79292172 + Missense_Mutation SNP C C T TCGA-DX-A2IZ-01A-11D-A21Q-09 TCGA-DX-A2IZ-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67bb70b2-b6f8-4aa9-80ce-48829f9fec56 9dc2fa01-ef68-44ce-98d0-dddcb6ef4f46 15 79292172 79292172 C T SNP RASGRF1 ENST00000419573 human ensembl 74_37 -1 known missense c.2707 p.A903T 0.971 pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_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 rs199661393 - 78 0 0.00 90 37 29.13 64 0 0.00 57 31 35.23 PAN2 0 genome.wustl.edu 37 12 56718437 56718437 + Silent SNP C C T TCGA-DX-A2IZ-01A-11D-A21Q-09 TCGA-DX-A2IZ-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67bb70b2-b6f8-4aa9-80ce-48829f9fec56 9dc2fa01-ef68-44ce-98d0-dddcb6ef4f46 12 56718437 56718437 C T SNP PAN2 ENST00000425394 human ensembl 74_37 -1 known silent c.1656 p.K552 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Exonuclease_RNaseT/D_pol3,pfam_Peptidase_C19/C67,superfamily_RNaseH-like_dom,superfamily_WD40_repeat_dom,smart_Exonuclease,pfscan_Peptidase_C19/C67 - no_errors PAN2 HGNC ENSG00000135473 tier1 - - 55 0 0.00 343 35 9.26 61 0 0.00 524 95 15.32 PTPRH 0 genome.wustl.edu 37 19 55715272 55715272 + Missense_Mutation SNP C C T TCGA-DX-A2IZ-01A-11D-A21Q-09 TCGA-DX-A2IZ-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67bb70b2-b6f8-4aa9-80ce-48829f9fec56 9dc2fa01-ef68-44ce-98d0-dddcb6ef4f46 19 55715272 55715272 C T SNP PTPRH ENST00000376350 human ensembl 74_37 -1 known missense c.764 p.R255Q 0.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRH HGNC ENSG00000080031 tier1 rs199739996 - 116 0 0.00 43 27 38.57 83 0 0.00 56 22 28.21 NRD1 0 genome.wustl.edu 37 1 52264037 52264037 + Missense_Mutation SNP C C T TCGA-DX-A2IZ-01A-11D-A21Q-09 TCGA-DX-A2IZ-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67bb70b2-b6f8-4aa9-80ce-48829f9fec56 9dc2fa01-ef68-44ce-98d0-dddcb6ef4f46 1 52264037 52264037 C T SNP NRD1 ENST00000354831 human ensembl 74_37 -1 known missense c.2692 p.D898N 1.000 superfamily_Metalloenz_LuxS/M16 pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16 - no_errors NRD1 HGNC ENSG00000078618 tier1 - - 26 0 0.00 30 175 85.37 81 0 0.00 113 737 86.50 FER1L6 0 genome.wustl.edu 37 8 125113350 125113350 + Silent SNP C C A TCGA-DX-A2IZ-01A-11D-A21Q-09 TCGA-DX-A2IZ-10A-01D-A21Q-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67bb70b2-b6f8-4aa9-80ce-48829f9fec56 9dc2fa01-ef68-44ce-98d0-dddcb6ef4f46 8 125113350 125113350 C A SNP FER1L6 ENST00000399018 human ensembl 74_37 +1 known silent c.4896 p.G1632 0.012 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,superfamily_ABC1_TM_dom,smart_C2_dom,pfscan_C2_dom - no_errors FER1L6 HGNC ENSG00000214814 tier1 - - 30 0 0.00 22 14 38.89 45 0 0.00 66 37 35.92 L1TD1 0 genome.wustl.edu 37 1 62672850 62672850 + Missense_Mutation SNP A A G TCGA-DX-A2IZ-01A-11D-A21Q-09 TCGA-DX-A2IZ-10A-01D-A21Q-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67bb70b2-b6f8-4aa9-80ce-48829f9fec56 9dc2fa01-ef68-44ce-98d0-dddcb6ef4f46 1 62672850 62672850 A G SNP L1TD1 ENST00000498273 human ensembl 74_37 +1 known missense c.550 p.R184G 0.001 NULL pfam_Transposase_22,superfamily_STAT_TF_coiled-coil - no_errors L1TD1 HGNC ENSG00000240563 tier1 - - 34 0 0.00 62 7 10.14 90 0 0.00 289 40 12.16 SPN 0 genome.wustl.edu 37 16 29675786 29675786 + Missense_Mutation SNP G G A TCGA-DX-A2IZ-01A-11D-A21Q-09 TCGA-DX-A2IZ-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67bb70b2-b6f8-4aa9-80ce-48829f9fec56 9dc2fa01-ef68-44ce-98d0-dddcb6ef4f46 16 29675786 29675786 G A SNP SPN ENST00000360121 human ensembl 74_37 +1 known missense c.737 p.R246Q 0.000 NULL NULL - no_errors SPN HGNC ENSG00000197471 tier1 rs181483014 GMAF=0.0005 107 0 0.00 51 37 42.05 71 0 0.00 38 20 34.48 RSPH6A 0 genome.wustl.edu 37 19 46303816 46303816 + Missense_Mutation SNP T T C TCGA-DX-A2IZ-01A-11D-A21Q-09 TCGA-DX-A2IZ-10A-01D-A21Q-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67bb70b2-b6f8-4aa9-80ce-48829f9fec56 9dc2fa01-ef68-44ce-98d0-dddcb6ef4f46 19 46303816 46303816 T C SNP RSPH6A ENST00000221538 human ensembl 74_37 -1 known missense c.1804 p.M602V 0.106 pfam_Radial_spoke pfam_Radial_spoke - no_errors RSPH6A HGNC ENSG00000104941 tier1 - - 157 0 0.00 71 34 32.38 32 0 0.00 24 17 41.46 CLVS1 0 genome.wustl.edu 37 8 62371079 62371081 + In_Frame_Del DEL TGC TGC - TCGA-DX-A2IZ-01A-11D-A21Q-09 TCGA-DX-A2IZ-10A-01D-A21Q-09 TGC TGC TGC - TGC TGC Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67bb70b2-b6f8-4aa9-80ce-48829f9fec56 9dc2fa01-ef68-44ce-98d0-dddcb6ef4f46 8 62371079 62371081 TGC - DEL CLVS1 ENST00000325897 human ensembl 74_37 +1 known in_frame_del c.955_957 p.C319in_frame_del 0.586:0.792:0.937 NULL pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran - no_errors CLVS1 HGNC ENSG00000177182 tier1 42 0 0.00 22 21 48.84 72 0 0.00 39 19 32.76 WDR61 0 genome.wustl.edu 37 15 78575602 78575608 + R DEL AAGTATG AAGTATG - TCGA-DX-A2IZ-01A-11D-A21Q-09 TCGA-DX-A2IZ-10A-01D-A21Q-09 AAGTATG AAGTATG AAGTATG - AAGTATG AAGTATG Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67bb70b2-b6f8-4aa9-80ce-48829f9fec56 9dc2fa01-ef68-44ce-98d0-dddcb6ef4f46 15 78575602 78575608 AAGTATG - DEL WDR61 ENST00000559332 human ensembl 74_37 -1 putative rna NULL NULL 0.044:0.027:0.020:0.017:0.024:0.039:0.066 - - - no_errors WDR61 HGNC ENSG00000140395 tier1 96 0 0.00 66 24 26.67 96 0 0.00 66 24 26.67 ARL13B 0 genome.wustl.edu 37 3 93769680 93769680 + Frame_Shift_Del DEL C C - TCGA-DX-A2IZ-01A-11D-A21Q-09 TCGA-DX-A2IZ-10A-01D-A21Q-09 C C C - C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67bb70b2-b6f8-4aa9-80ce-48829f9fec56 9dc2fa01-ef68-44ce-98d0-dddcb6ef4f46 3 93769680 93769680 C - DEL ARL13B ENST00000394222 human ensembl 74_37 +1 known frame_shift_del c.1154 p.P386fs 1.000 NULL pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom - no_errors ARL13B HGNC ENSG00000169379 tier1 33 0 0.00 15 14 48.28 76 0 0.00 55 26 32.10 DCTN4 0 genome.wustl.edu 37 5 150097914 150097914 + Frame_Shift_Del DEL G G - TCGA-DX-A2IZ-01A-11D-A21Q-09 TCGA-DX-A2IZ-10A-01D-A21Q-09 G G G - G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67bb70b2-b6f8-4aa9-80ce-48829f9fec56 9dc2fa01-ef68-44ce-98d0-dddcb6ef4f46 5 150097914 150097914 G - DEL DCTN4 ENST00000446090 human ensembl 74_37 -1 known frame_shift_del c.1016 p.P339fs 1.000 pfam_Dynactin_p62 pfam_Dynactin_p62 - no_errors DCTN4 HGNC ENSG00000132912 tier1 62 0 0.00 31 17 35.42 75 0 0.00 64 26 28.89 DERL3 0 genome.wustl.edu 37 22 24176678 24176700 + R DEL CAACAGGTCATGTTCAATTTCTT CAACAGGTCATGTTCAATTTCTT - TCGA-DX-A2IZ-01A-11D-A21Q-09 TCGA-DX-A2IZ-10A-01D-A21Q-09 CAACAGGTCATGTTCAATTTCTT CAACAGGTCATGTTCAATTTCTT CAACAGGTCATGTTCAATTTCTT - CAACAGGTCATGTTCAATTTCTT CAACAGGTCATGTTCAATTTCTT Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67bb70b2-b6f8-4aa9-80ce-48829f9fec56 9dc2fa01-ef68-44ce-98d0-dddcb6ef4f46 22 24176678 24176700 CAACAGGTCATGTTCAATTTCTT - DEL DERL3 ENST00000464023 human ensembl 74_37 -1 known rna NULL NULL 0.881:0.744:0.541:0.169:0.191:0.247:0.273:0.214:0.004:0.003:0.003:0.004:0.017:0.025:0.031:0.034:0.036:0.045:0.051:0.010:0.016:0.016:0.010 - - - no_errors DERL3 HGNC ENSG00000099958 tier1 77 1 1.28 19 3 13.64 77 1 1.28 19 3 13.64 DPH6 0 genome.wustl.edu 37 15 35746987 35746987 + Missense_Mutation SNP G G T TCGA-DX-A2IZ-01A-11D-A21Q-09 TCGA-DX-A2IZ-10A-01D-A21Q-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67bb70b2-b6f8-4aa9-80ce-48829f9fec56 9dc2fa01-ef68-44ce-98d0-dddcb6ef4f46 15 35746987 35746987 G T SNP DPH6 ENST00000256538 human ensembl 74_37 -1 known missense c.347 p.A116D 1.000 pfam_DUF71_dom,tigrfam_DUF71_dom pfam_DUF71_dom,tigrfam_DUF71_dom - no_errors DPH6 HGNC ENSG00000134146 tier1 - - 11 0 0.00 2 10 83.33 44 0 0.00 3 27 90.00 EFHD2 0 genome.wustl.edu 37 1 15753676 15753676 + Missense_Mutation SNP G G A TCGA-DX-A2IZ-01A-11D-A21Q-09 TCGA-DX-A2IZ-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67bb70b2-b6f8-4aa9-80ce-48829f9fec56 9dc2fa01-ef68-44ce-98d0-dddcb6ef4f46 1 15753676 15753676 G A SNP EFHD2 ENST00000375980 human ensembl 74_37 +1 known missense c.487 p.G163R 1.000 pfscan_EF_hand_dom smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors EFHD2 HGNC ENSG00000142634 tier1 - - 34 0 0.00 14 16 53.33 15 0 0.00 1 5 83.33 HNRNPDL 0 genome.wustl.edu 37 4 83350511 83350511 + Silent SNP G G A TCGA-DX-A2IZ-01A-11D-A21Q-09 TCGA-DX-A2IZ-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67bb70b2-b6f8-4aa9-80ce-48829f9fec56 9dc2fa01-ef68-44ce-98d0-dddcb6ef4f46 4 83350511 83350511 G A SNP HNRNPDL ENST00000295470 human ensembl 74_37 -1 known silent c.333 p.H111 0.080 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPDL HGNC ENSG00000152795 tier1 - - 74 0 0.00 12 32 69.57 18 0 0.00 1 9 90.00 AK7 0 genome.wustl.edu 37 14 96909100 96909100 + Frame_Shift_Del DEL G G - TCGA-DX-A2IZ-01A-11D-A21Q-09 TCGA-DX-A2IZ-10A-01D-A21Q-09 G G G - G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67bb70b2-b6f8-4aa9-80ce-48829f9fec56 9dc2fa01-ef68-44ce-98d0-dddcb6ef4f46 14 96909100 96909100 G - DEL AK7 ENST00000267584 human ensembl 74_37 +1 known frame_shift_del c.724 p.V242fs 0.377 NULL pfam_Dpy-30_motif,pfam_Adenylate_kin,superfamily_P-loop_NTPase - no_errors AK7 HGNC ENSG00000140057 tier1 122 0 0.00 320 48 13.04 87 0 0.00 429 44 9.30 EHD2 0 genome.wustl.edu 37 19 48244692 48244693 + R INS - - G TCGA-DX-A2IZ-01A-11D-A21Q-09 TCGA-DX-A2IZ-10A-01D-A21Q-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67bb70b2-b6f8-4aa9-80ce-48829f9fec56 9dc2fa01-ef68-44ce-98d0-dddcb6ef4f46 19 48244692 48244693 - G INS EHD2 ENST00000540884 human ensembl 74_37 +1 known rna NULL NULL 0.938:0.089 - - - no_errors EHD2 HGNC ENSG00000024422 tier1 12 0 0.00 12 4 25.00 2 0 0.00 0 0 0.00 ENSG00000216191 0 genome.wustl.edu 37 2 50923314 50923319 + R DEL GTGTGT GTGTGT - TCGA-DX-A2IZ-01A-11D-A21Q-09 TCGA-DX-A2IZ-10A-01D-A21Q-09 GTGTGT GTGTGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67bb70b2-b6f8-4aa9-80ce-48829f9fec56 9dc2fa01-ef68-44ce-98d0-dddcb6ef4f46 2 50923314 50923319 GTGTGT - DEL ENSG00000216191 ENST00000401372 human ensembl 74_37 -1 novel rna NULL NULL 0.006:0.004:0.003:0.002:0.002:0.000 - - - no_errors AC009234.2 Clone_based_ensembl_gene ENSG00000216191 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 ENSG00000259455 0 genome.wustl.edu 37 15 23406924 23406924 + Missense_Mutation SNP G G T TCGA-DX-A2IZ-01A-11D-A21Q-09 TCGA-DX-A2IZ-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67bb70b2-b6f8-4aa9-80ce-48829f9fec56 9dc2fa01-ef68-44ce-98d0-dddcb6ef4f46 15 23406924 23406924 G T SNP ENSG00000259455 ENST00000558241 human ensembl 74_37 -1 novel missense c.1912 p.Q638K 0.078 NULL superfamily_Ribosomal_L7/12_C/ClpS-like,prints_Tropomyosin - no_errors RP11-467N20.5 Clone_based_vega_gene ENSG00000259455 tier1 - - 233 0 0.00 153 53 25.73 2 0 0.00 2 0 0.00