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 TTC16 0 genome.wustl.edu 37 9 130493785 130493785 + R SNP A A G TCGA-DX-A6BH-01A-12D-A307-09 TCGA-DX-A6BH-10A-01D-A307-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 98f225b0-b093-4073-98ee-cbd5999e7912 2c5832b3-1c6f-4176-8191-6d4b43a5391e 9 130493785 130493785 A G SNP TTC16 ENST00000488285 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors TTC16 HGNC ENSG00000167094 tier1 - - 25 0 0.00 19 5 20.83 78 0 0.00 54 20 26.67 DTX3 0 genome.wustl.edu 37 12 58002321 58002321 + Missense_Mutation SNP G G A TCGA-DX-A6BH-01A-12D-A307-09 TCGA-DX-A6BH-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 98f225b0-b093-4073-98ee-cbd5999e7912 2c5832b3-1c6f-4176-8191-6d4b43a5391e 12 58002321 58002321 G A SNP DTX3 ENST00000551632 human ensembl 74_37 +1 known missense c.778 p.G260R 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors DTX3 HGNC ENSG00000178498 tier1 - - 80 0 0.00 386 321 45.40 75 0 0.00 550 377 40.58 GJD2 0 genome.wustl.edu 37 15 35044752 35044752 + Missense_Mutation SNP C C T TCGA-DX-A6BH-01A-12D-A307-09 TCGA-DX-A6BH-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 98f225b0-b093-4073-98ee-cbd5999e7912 2c5832b3-1c6f-4176-8191-6d4b43a5391e 15 35044752 35044752 C T SNP GJD2 ENST00000290374 human ensembl 74_37 -1 known missense c.893 p.R298H 1.000 NULL pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin36 - no_errors GJD2 HGNC ENSG00000159248 tier1 - - 106 0 0.00 57 20 25.97 85 0 0.00 52 36 40.91 FRS3 0 genome.wustl.edu 37 6 41745817 41745817 + R SNP G G A TCGA-DX-A6BH-01A-12D-A307-09 TCGA-DX-A6BH-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 98f225b0-b093-4073-98ee-cbd5999e7912 2c5832b3-1c6f-4176-8191-6d4b43a5391e 6 41745817 41745817 G A SNP FRS3 ENST00000466420 human ensembl 74_37 -1 known rna NULL NULL 0.538 - - - no_errors FRS3 HGNC ENSG00000137218 tier1 - - 86 0 0.00 985 210 17.56 82 0 0.00 1618 326 16.73 FL 0 genome.wustl.edu 37 X 153591107 153591107 + Missense_Mutation SNP C C T TCGA-DX-A6BH-01A-12D-A307-09 TCGA-DX-A6BH-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 98f225b0-b093-4073-98ee-cbd5999e7912 2c5832b3-1c6f-4176-8191-6d4b43a5391e X 153591107 153591107 C T SNP FL ENST00000369850 human ensembl 74_37 -1 known missense c.2326 p.G776S 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 FL HGNC ENSG00000196924 tier1 - - 182 0 0.00 43 98 69.50 51 0 0.00 13 26 66.67 MTTP 0 genome.wustl.edu 37 4 100521804 100521804 + Missense_Mutation SNP G G A TCGA-DX-A6BH-01A-12D-A307-09 TCGA-DX-A6BH-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 98f225b0-b093-4073-98ee-cbd5999e7912 2c5832b3-1c6f-4176-8191-6d4b43a5391e 4 100521804 100521804 G A SNP MTTP ENST00000265517 human ensembl 74_37 +1 known missense c.1150 p.D384N 0.190 pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,superfamily_Lipid_transp_b-sht_shell,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors MTTP HGNC ENSG00000138823 tier1 - - 134 0 0.00 73 46 38.66 96 1 1.03 73 42 36.52 RTL1 0 genome.wustl.edu 37 14 101347411 101347411 + Missense_Mutation SNP C C T TCGA-DX-A6BH-01A-12D-A307-09 TCGA-DX-A6BH-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 98f225b0-b093-4073-98ee-cbd5999e7912 2c5832b3-1c6f-4176-8191-6d4b43a5391e 14 101347411 101347411 C T SNP RTL1 ENST00000534062 human ensembl 74_37 -1 known missense c.3715 p.D1239N 1.000 NULL pfam_Retrotrans_gag_dom,superfamily_Peptidase_aspartic_dom - no_errors RTL1 HGNC ENSG00000254656 tier1 - - 136 0 0.00 83 43 33.86 40 0 0.00 23 8 25.81 NOTCH4 0 genome.wustl.edu 37 6 32188317 32188317 + Missense_Mutation SNP C C T TCGA-DX-A6BH-01A-12D-A307-09 TCGA-DX-A6BH-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 98f225b0-b093-4073-98ee-cbd5999e7912 2c5832b3-1c6f-4176-8191-6d4b43a5391e 6 32188317 32188317 C T SNP NOTCH4 ENST00000375023 human ensembl 74_37 -1 known missense c.1024 p.V342M 1.000 pirsf_Notch,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pirsf_Notch,pfam_EG-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd_dom,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_4,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH4 HGNC ENSG00000204301 tier1 rs144492578 - 111 0 0.00 41 42 50.60 70 1 1.41 45 35 43.75 ENSG00000267353 0 genome.wustl.edu 37 19 37266238 37266238 + R DEL C C - TCGA-DX-A6BH-01A-12D-A307-09 TCGA-DX-A6BH-10A-01D-A307-09 C C C - C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 98f225b0-b093-4073-98ee-cbd5999e7912 2c5832b3-1c6f-4176-8191-6d4b43a5391e 19 37266238 37266238 C - DEL ENSG00000267353 ENST00000588717 human ensembl 74_37 -1 known rna NULL NULL 0.043 - - - no_errors CTD-2162K18.3 Clone_based_vega_gene ENSG00000267353 tier1 71 0 0.00 26 12 31.58 157 0 0.00 112 47 29.56 FAM163A 0 genome.wustl.edu 37 1 179783087 179783087 + Silent SNP G G T TCGA-DX-A6BH-01A-12D-A307-09 TCGA-DX-A6BH-10A-01D-A307-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 98f225b0-b093-4073-98ee-cbd5999e7912 2c5832b3-1c6f-4176-8191-6d4b43a5391e 1 179783087 179783087 G T SNP FAM163A ENST00000341785 human ensembl 74_37 +1 known silent c.267 p.G89 0.638 NULL NULL - no_errors FAM163A HGNC ENSG00000143340 tier1 - - 78 0 0.00 34 26 43.33 13 0 0.00 7 11 61.11 HAUS7 0 genome.wustl.edu 37 X 152722238 152722238 + R SNP C C T TCGA-DX-A6BH-01A-12D-A307-09 TCGA-DX-A6BH-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 98f225b0-b093-4073-98ee-cbd5999e7912 2c5832b3-1c6f-4176-8191-6d4b43a5391e X 152722238 152722238 C T SNP HAUS7 ENST00000464993 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors HAUS7 HGNC ENSG00000213397 tier1 - - 25 0 0.00 2 12 85.71 11 0 0.00 0 11 100.00 RABEP1 0 genome.wustl.edu 37 17 5253801 5253801 + Nonsense_Mutation SNP G G A TCGA-DX-A6BH-01A-12D-A307-09 TCGA-DX-A6BH-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 98f225b0-b093-4073-98ee-cbd5999e7912 2c5832b3-1c6f-4176-8191-6d4b43a5391e 17 5253801 5253801 G A SNP RABEP1 ENST00000262477 human ensembl 74_37 +1 known nonsense c.840 p.W280* 1.000 NULL pfam_Rabaptin_coiled-coil,pfam_Rabaptin_Rab5-bd_dom,prints_Rabaptin - no_errors RABEP1 HGNC ENSG00000029725 tier1 - - 74 0 0.00 44 5 10.20 130 0 0.00 157 17 9.77 C1QTNF1 0 genome.wustl.edu 37 17 77044218 77044219 + R INS - - GCTGACCCCAGGGCTCAGCACCAG TCGA-DX-A6BH-01A-12D-A307-09 TCGA-DX-A6BH-10A-01D-A307-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 98f225b0-b093-4073-98ee-cbd5999e7912 2c5832b3-1c6f-4176-8191-6d4b43a5391e 17 77044218 77044219 - GCTGACCCCAGGGCTCAGCACCAG INS C1QTNF1 ENST00000582625 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.002 - - - no_errors C1QTNF1 HGNC ENSG00000173918 tier1 18 0 0.00 2 0 0.00 18 0 0.00 2 0 0.00 UPK3B 0 genome.wustl.edu 37 7 76144537 76144538 + Frame_Shift_Ins INS - - GGGGCTGGGGGAGATGG TCGA-DX-A6BH-01A-12D-A307-09 TCGA-DX-A6BH-10A-01D-A307-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 98f225b0-b093-4073-98ee-cbd5999e7912 2c5832b3-1c6f-4176-8191-6d4b43a5391e 7 76144537 76144538 - GGGGCTGGGGGAGATGG INS UPK3B ENST00000257632 human ensembl 74_37 +1 known frame_shift_ins c.932_933 p.G315fs 0.004:0.021 NULL NULL - no_errors UPK3B HGNC ENSG00000243566 tier1 5 0 0.00 2 0 0.00 5 0 0.00 2 0 0.00 ATXN8OS 0 genome.wustl.edu 37 13 70713513 70713533 + R DEL CTACTGCTGCTGCTGCTGCTG CTACTGCTGCTGCTGCTGCTG - TCGA-DX-A6BH-01A-12D-A307-09 TCGA-DX-A6BH-10A-01D-A307-09 CTACTGCTGCTGCTGCTGCTG CTACTGCTGCTGCTGCTGCTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 98f225b0-b093-4073-98ee-cbd5999e7912 2c5832b3-1c6f-4176-8191-6d4b43a5391e 13 70713513 70713533 CTACTGCTGCTGCTGCTGCTG - DEL ATXN8OS ENST00000414504 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.001:0.001:0.001:0.001:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.001:0.000:0.000:0.000:0.000:0.000:0.001:0.000 - - - no_errors ATXN8OS HGNC ENSG00000230223 tier1 1 0 0.00 0 0 0.00 1 0 0.00 0 0 0.00 DEFB104B 0 genome.wustl.edu 37 8 7332563 7332563 + Missense_Mutation SNP T T C TCGA-DX-A6BH-01A-12D-A307-09 TCGA-DX-A6BH-10A-01D-A307-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 98f225b0-b093-4073-98ee-cbd5999e7912 2c5832b3-1c6f-4176-8191-6d4b43a5391e 8 7332563 7332563 T C SNP DEFB104B ENST00000316169 human ensembl 74_37 -1 known missense c.28 p.I10V 0.005 NULL NULL - no_errors DEFB104B HGNC ENSG00000177023 tier1 rs200740890 - 27 0 0.00 28 4 12.50 1 0 0.00 2 0 0.00 ENSG00000263120 0 genome.wustl.edu 37 17 55062464 55062465 + R INS - - GAAAA TCGA-DX-A6BH-01A-12D-A307-09 TCGA-DX-A6BH-10A-01D-A307-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 98f225b0-b093-4073-98ee-cbd5999e7912 2c5832b3-1c6f-4176-8191-6d4b43a5391e 17 55062464 55062465 - GAAAA INS ENSG00000263120 ENST00000572877 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.001 - - - no_errors RP5-1107A17.4 Clone_based_vega_gene ENSG00000263120 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 GOLGA6L6 0 genome.wustl.edu 37 15 20740571 20740571 + Missense_Mutation SNP T T C TCGA-DX-A6BH-01A-12D-A307-09 TCGA-DX-A6BH-10A-01D-A307-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 98f225b0-b093-4073-98ee-cbd5999e7912 2c5832b3-1c6f-4176-8191-6d4b43a5391e 15 20740571 20740571 T C SNP GOLGA6L6 ENST00000427390 human ensembl 74_37 -1 known missense c.1179 p.I393M 0.096 prints_Tropomyosin superfamily_Ribosomal_L7/12_C/ClpS-like,prints_Tropomyosin - no_errors GOLGA6L6 HGNC ENSG00000215405 tier1 rs200650686 - 14 0 0.00 7 3 30.00 0 0 0.00 0 0 0.00 LOC101928729 0 genome.wustl.edu 37 17 18286742 18286742 + R DEL G G - TCGA-DX-A6BH-01A-12D-A307-09 TCGA-DX-A6BH-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 98f225b0-b093-4073-98ee-cbd5999e7912 2c5832b3-1c6f-4176-8191-6d4b43a5391e 17 18286742 18286742 G - DEL LOC101928729 ENST00000579352 human ensembl 74_37 -1 known rna NULL NULL 0.026 - - - no_errors RP1-37N7.1 Clone_based_vega_gene ENSG00000264177 tier1 25 0 0.00 19 2 9.52 0 0 0.00 0 0 0.00 RBMXL2 0 genome.wustl.edu 37 11 7110476 7110476 + Missense_Mutation SNP A A G TCGA-DX-A6BH-01A-12D-A307-09 TCGA-DX-A6BH-10A-01D-A307-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 98f225b0-b093-4073-98ee-cbd5999e7912 2c5832b3-1c6f-4176-8191-6d4b43a5391e 11 7110476 7110476 A G SNP RBMXL2 ENST00000306904 human ensembl 74_37 +1 known missense c.125 p.D42G 1.000 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMXL2 HGNC ENSG00000170748 tier1 - - 72 0 0.00 60 6 9.09 90 0 0.00 91 3 3.19 SLC17A6 0 genome.wustl.edu 37 11 22363276 22363276 + Missense_Mutation SNP G G A TCGA-DX-A6BH-01A-12D-A307-09 TCGA-DX-A6BH-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 98f225b0-b093-4073-98ee-cbd5999e7912 2c5832b3-1c6f-4176-8191-6d4b43a5391e 11 22363276 22363276 G A SNP SLC17A6 ENST00000263160 human ensembl 74_37 +1 known missense c.289 p.D97N 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A6 HGNC ENSG00000091664 tier1 - - 212 0 0.00 160 18 10.11 62 0 0.00 84 3 3.45 OR8B8 0 genome.wustl.edu 37 11 124310339 124310339 + Missense_Mutation SNP A A G TCGA-DX-A6BH-01A-12D-A307-09 TCGA-DX-A6BH-10A-01D-A307-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 98f225b0-b093-4073-98ee-cbd5999e7912 2c5832b3-1c6f-4176-8191-6d4b43a5391e 11 124310339 124310339 A G SNP OR8B8 ENST00000328064 human ensembl 74_37 -1 known missense c.643 p.F215L 0.998 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8B8 HGNC ENSG00000197125 tier1 - - 88 0 0.00 40 4 9.09 131 0 0.00 110 2 1.79