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 ABCC5 10057 genome.wustl.edu 37 3 183655783 183655783 + Missense_Mutation SNP C C A TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 3 183655783 183655783 C A SNP ABCC5 ENST00000334444 human ensembl 70_37 -1 known missense c.3760 p.D1254Y 1.000 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCC5 HGNC ACAN 176 genome.wustl.edu 37 15 89386651 89386651 + Missense_Mutation SNP C C T TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 15 89386651 89386651 C T SNP ACAN ENST00000439576 human ensembl 70_37 +1 known missense c.823 p.R275W 0.996 pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link - no_errors ACAN HGNC AGAP11 119385 genome.wustl.edu 37 10 88760456 88760457 + RNA INS - - T TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 10 88760456 88760457 - T INS AGAP11 ENST00000444431 human ensembl 70_37 +1 known rna NULL NULL 0.001:0.003 - - - no_errors AGAP11 HGNC ARHGEF17 9828 genome.wustl.edu 37 11 73021308 73021308 + Missense_Mutation SNP G G A TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 11 73021308 73021308 G A SNP ARHGEF17 ENST00000263674 human ensembl 70_37 +1 known missense c.1625 p.R542Q 0.957 superfamily_Vinculin/catenin pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,superfamily_Vinculin/catenin,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF17 HGNC ARID3B 10620 genome.wustl.edu 37 15 74887963 74887964 + Frame_Shift_Ins INS - - C TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 15 74887963 74887964 - C INS ARID3B ENST00000346246 human ensembl 70_37 +1 known frame_shift_ins c.1531_1532 p.Q512fs 1.000:1.000 NULL pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID3B HGNC ASXL1 171023 genome.wustl.edu 37 20 31022441 31022442 + Frame_Shift_Ins INS - - G TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 20 31022441 31022442 - G INS ASXL1 ENST00000375687 human ensembl 70_37 +1 known frame_shift_ins c.1926_1927 p.G645fs 1.000:1.000 NULL NULL - no_errors ASXL1 HGNC BCOR 54880 genome.wustl.edu 37 X 39931728 39931728 + Silent SNP C C T TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 X 39931728 39931728 C T SNP BCOR ENST00000378444 human ensembl 70_37 -1 known silent c.2871 p.P957 0.992 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCOR HGNC BCOR 54880 genome.wustl.edu 37 X 39933165 39933165 + Silent SNP G G A TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 X 39933165 39933165 G A SNP BCOR ENST00000378444 human ensembl 70_37 -1 known silent c.1434 p.S478 0.315 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCOR HGNC C11orf35 256329 genome.wustl.edu 37 11 557577 557577 + Missense_Mutation SNP C C A TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 11 557577 557577 C A SNP C11orf35 ENST00000329451 human ensembl 70_37 -1 known missense c.619 p.G207W 0.122 NULL pfam_Lamin_tail_dom - no_errors C11orf35 HGNC C1orf172 126695 genome.wustl.edu 37 1 27278790 27278790 + Nonsense_Mutation SNP C C A TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 1 27278790 27278790 C A SNP C1orf172 ENST00000320567 human ensembl 70_37 -1 known nonsense c.82 p.E28* 0.998 NULL NULL - no_errors C1orf172 HGNC C1orf216 127703 genome.wustl.edu 37 1 36181649 36181649 + Missense_Mutation SNP C C A TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 1 36181649 36181649 C A SNP C1orf216 ENST00000270815 human ensembl 70_37 -1 known missense c.274 p.G92W 0.003 NULL NULL - no_errors C1orf216 HGNC C21orf49 54067 genome.wustl.edu 37 21 34157085 34157086 + Splice_Site INS - - T TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 21 34157085 34157086 - T INS C21orf49 ENST00000454365 human ensembl 70_37 +1 known splice_site_ins c.1-1_0 e1-1 0.122:0.122 - - - no_errors C21orf49 HGNC CACNA1E 777 genome.wustl.edu 37 1 181680090 181680090 + Silent SNP G G T TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 1 181680090 181680090 G T SNP CACNA1E ENST00000367573 human ensembl 70_37 +1 known silent c.1056 p.G352 1.000 prints_VDCCAlpha1 pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC CDH11 1009 genome.wustl.edu 37 16 65038559 65038559 + Missense_Mutation SNP C C T TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 16 65038559 65038559 C T SNP CDH11 ENST00000268603 human ensembl 70_37 -1 known missense c.214 p.V72M 1.000 pfam_Cadherin,superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH11 HGNC CELP 1057 genome.wustl.edu 37 9 135962664 135962664 + RNA SNP G G C TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 9 135962664 135962664 G C SNP CELP ENST00000411440 human ensembl 70_37 +1 known rna NULL NULL 0.004 - - - no_errors CELP HGNC CEP164 22897 genome.wustl.edu 37 11 117242155 117242155 + Silent SNP G G T TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 11 117242155 117242155 G T SNP CEP164 ENST00000278935 human ensembl 70_37 +1 known silent c.1125 p.L375 0.000 NULL superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP - no_errors CEP164 HGNC CLCN6 1185 genome.wustl.edu 37 1 11866380 11866380 + Missense_Mutation SNP C C A TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 1 11866380 11866380 C A SNP CLCN6 ENST00000346436 human ensembl 70_37 +1 known missense c.61 p.R21S 1.000 NULL pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-6 - no_errors CLCN6 HGNC COL17A1 1308 genome.wustl.edu 37 10 105816868 105816868 + Missense_Mutation SNP C C T TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 10 105816868 105816868 C T SNP COL17A1 ENST00000353479 human ensembl 70_37 -1 known missense c.1330 p.A444T 0.008 NULL pfam_Collagen - no_errors COL17A1 HGNC COL4A5 1287 genome.wustl.edu 37 X 107683188 107683189 + RNA INS - - T TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 X 107683188 107683189 - T INS COL4A5 ENST00000477429 human ensembl 70_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors COL4A5 HGNC CXCR5 643 genome.wustl.edu 37 11 118764809 118764809 + Missense_Mutation SNP C C T TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 11 118764809 118764809 C T SNP CXCR5 ENST00000292174 human ensembl 70_37 +1 known missense c.556 p.L186F 0.984 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_ATII_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR5,prints_GPCR_Rhodpsn,prints_Chemokine_CXCR4,prints_ATII_rcpt - no_errors CXCR5 HGNC DNAH9 1770 genome.wustl.edu 37 17 11778359 11778359 + Missense_Mutation SNP G G A TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 17 11778359 11778359 G A SNP DNAH9 ENST00000262442 human ensembl 70_37 +1 known missense c.10336 p.D3446N 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH9 HGNC EAPP 55837 genome.wustl.edu 37 14 34998644 34998644 + Silent SNP C C T TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 14 34998644 34998644 C T SNP EAPP ENST00000250454 human ensembl 70_37 -1 known silent c.390 p.K130 0.998 NULL pfam_E2F-assoc_phosphoprotein - no_errors EAPP HGNC ENPEP 2028 genome.wustl.edu 37 4 111397949 111397949 + Missense_Mutation SNP G G A TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 4 111397949 111397949 G A SNP ENPEP ENST00000265162 human ensembl 70_37 +1 known missense c.379 p.A127T 0.000 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors ENPEP HGNC ENSG00000205018 0 genome.wustl.edu 37 16 89016744 89016744 + Missense_Mutation SNP G G C TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 16 89016744 89016744 G C SNP ENSG00000205018 ENST00000378347 human ensembl 70_37 +1 putative missense c.218 p.R73P 0.364 NULL NULL - no_errors RP11-830F9.6 Clone_based_vega_gene ENSG00000221478 0 genome.wustl.edu 37 19 23369133 23369133 + RNA SNP G G A TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 19 23369133 23369133 G A SNP ENSG00000221478 ENST00000408551 human ensembl 70_37 +1 novel rna NULL NULL 0.242 - - - no_errors AC092329.1 Clone_based_ensembl_gene ENSG00000252677 0 genome.wustl.edu 37 18 19291975 19291975 + RNA SNP C C A TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 18 19291975 19291975 C A SNP ENSG00000252677 ENST00000516868 human ensembl 70_37 -1 novel rna NULL NULL 0.886 - - - no_errors SNORA81 RFAM ENSG00000259172 0 genome.wustl.edu 37 15 101844271 101844271 + RNA SNP C C A TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 15 101844271 101844271 C A SNP ENSG00000259172 ENST00000558838 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-299G20.2 Clone_based_vega_gene ENSG00000259660 0 genome.wustl.edu 37 15 102301268 102301268 + RNA SNP C C T TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 15 102301268 102301268 C T SNP ENSG00000259660 ENST00000561463 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors CTD-2611K5.6 Clone_based_vega_gene ERBB3 2065 genome.wustl.edu 37 12 56478854 56478854 + Missense_Mutation SNP G G A TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 12 56478854 56478854 G A SNP ERBB3 ENST00000267101 human ensembl 70_37 +1 known missense c.310 p.V104M 0.994 pfam_EGF_rcpt_L,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ERBB3 HGNC FRMD4A 55691 genome.wustl.edu 37 10 13687647 13687647 + RNA SNP T T C TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 10 13687647 13687647 T C SNP FRMD4A ENST00000460348 human ensembl 70_37 -1 known rna NULL NULL 0.285 - - - no_errors FRMD4A HGNC FSIP2 401024 genome.wustl.edu 37 2 186670333 186670333 + Missense_Mutation SNP G G A TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 2 186670333 186670333 G A SNP FSIP2 ENST00000343098 human ensembl 70_37 +1 known missense c.16567 p.A5523T 0.000 NULL NULL - no_errors FSIP2 HGNC G6PD 2539 genome.wustl.edu 37 X 153763558 153763558 + Missense_Mutation SNP G G A TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 X 153763558 153763558 G A SNP G6PD ENST00000369620 human ensembl 70_37 -1 known missense c.310 p.R104C 0.998 pfam_G6P_DH_NAD-bd,pirsf_G6P_DH pfam_G6P_DH_C,pfam_G6P_DH_NAD-bd,pirsf_G6P_DH,prints_G6P_DH - no_errors G6PD HGNC GNE 10020 genome.wustl.edu 37 9 36222893 36222893 + Missense_Mutation SNP G G A TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 9 36222893 36222893 G A SNP GNE ENST00000396594 human ensembl 70_37 -1 known missense c.1607 p.S536F 1.000 pfam_ROK pfam_UDP_GlcNAc_Epimerase_2,pfam_ROK,prints_Hexokinase,tigrfam_UDP-GlcNAc_Epase - no_errors GNE HGNC HSP90AA6P 441051 genome.wustl.edu 37 4 171502653 171502653 + RNA SNP G G A TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 4 171502653 171502653 G A SNP HSP90AA6P ENST00000325407 human ensembl 70_37 -1 known rna NULL NULL 0.143 - - - no_errors HSP90AA6P HGNC IER2 9592 genome.wustl.edu 37 19 13264405 13264405 + Silent SNP G G T TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 19 13264405 13264405 G T SNP IER2 ENST00000292433 human ensembl 70_37 +1 known silent c.405 p.L135 0.985 pfam_IER pfam_IER - no_errors IER2 HGNC ILK 3611 genome.wustl.edu 37 11 6631719 6631719 + Silent SNP C C T TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 11 6631719 6631719 C T SNP ILK ENST00000299421 human ensembl 70_37 +1 known silent c.1236 p.T412 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Integrin-linked_kinase,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ankyrin_rpt,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Integrin-linked_kinase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ILK HGNC INADL 10207 genome.wustl.edu 37 1 62566054 62566054 + Missense_Mutation SNP C C T TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 1 62566054 62566054 C T SNP INADL ENST00000543708 human ensembl 70_37 +1 known missense c.793 p.H265Y 0.018 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors INADL HGNC ITM2A 9452 genome.wustl.edu 37 X 78622732 78622732 + RNA SNP C C T TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 X 78622732 78622732 C T SNP ITM2A ENST00000461357 human ensembl 70_37 -1 known rna NULL NULL 0.983 - - - no_errors ITM2A HGNC JDP2 122953 genome.wustl.edu 37 14 75936102 75936102 + Missense_Mutation SNP G G A TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 14 75936102 75936102 G A SNP JDP2 ENST00000267569 human ensembl 70_37 +1 known missense c.449 p.C150Y 1.000 prints_Leuzip_Fos pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos - no_errors JDP2 HGNC KIAA0556 23247 genome.wustl.edu 37 16 27781196 27781196 + Missense_Mutation SNP C C A TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 16 27781196 27781196 C A SNP KIAA0556 ENST00000261588 human ensembl 70_37 +1 known missense c.3990 p.H1330Q 1.000 NULL superfamily_Thaumatin - no_errors KIAA0556 HGNC KIAA1407 57577 genome.wustl.edu 37 3 113729657 113729657 + Missense_Mutation SNP C C A TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 3 113729657 113729657 C A SNP KIAA1407 ENST00000295878 human ensembl 70_37 -1 known missense c.1375 p.A459S 0.219 NULL NULL - no_errors KIAA1407 HGNC KIF26B 55083 genome.wustl.edu 37 1 245772793 245772793 + Missense_Mutation SNP G G A TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 1 245772793 245772793 G A SNP KIF26B ENST00000407071 human ensembl 70_37 +1 known missense c.1877 p.G626D 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF26B HGNC KRT16P3 644945 genome.wustl.edu 37 17 20405802 20405802 + RNA SNP T T C TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 17 20405802 20405802 T C SNP KRT16P3 ENST00000580621 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors KRT16P3 HGNC LINGO2 158038 genome.wustl.edu 37 9 27949873 27949873 + Missense_Mutation SNP A A T TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 9 27949873 27949873 A T SNP LINGO2 ENST00000308675 human ensembl 70_37 -1 known missense c.797 p.F266Y 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LINGO2 HGNC LMAN1 3998 genome.wustl.edu 37 18 57020469 57020469 + Nonsense_Mutation SNP G G A TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 18 57020469 57020469 G A SNP LMAN1 ENST00000251047 human ensembl 70_37 -1 known nonsense c.604 p.R202* 0.997 pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf,superfamily_HMG_superfamily - no_errors LMAN1 HGNC LOC100287896 100287896 genome.wustl.edu 37 11 74209056 74209056 + RNA SNP C C T TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 11 74209056 74209056 C T SNP LOC100287896 ENST00000526036 human ensembl 70_37 +1 known rna NULL NULL 0.439 - - - no_errors AP001372.2 Clone_based_vega_gene LOC100507646 100507646 genome.wustl.edu 37 19 40781050 40781050 + RNA SNP C C A TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 19 40781050 40781050 C A SNP LOC100507646 ENST00000378432 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CTC-425O23.2 Clone_based_vega_gene LRIF1 55791 genome.wustl.edu 37 1 111494244 111494244 + Missense_Mutation SNP G G T TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 1 111494244 111494244 G T SNP LRIF1 ENST00000369763 human ensembl 70_37 -1 known missense c.1262 p.S421Y 1.000 NULL NULL - no_errors LRIF1 HGNC MAN1A2 10905 genome.wustl.edu 37 1 117910706 117910706 + RNA SNP G G A TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 1 117910706 117910706 G A SNP MAN1A2 ENST00000482811 human ensembl 70_37 +1 known rna NULL NULL 0.743 - - - no_errors MAN1A2 HGNC MFRP 83552 genome.wustl.edu 37 11 119212390 119212390 + Silent SNP G G T TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 11 119212390 119212390 G T SNP MFRP ENST00000449574 human ensembl 70_37 -1 known silent c.1608 p.P536 1.000 pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom pfam_CUB,pfam_Frizzled_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,smart_Frizzled_dom,pfscan_CUB,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt - no_errors MFRP HGNC MIR3136 100422859 genome.wustl.edu 37 3 69098114 69098114 + RNA SNP G G A TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 3 69098114 69098114 G A SNP MIR3136 ENST00000583498 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR3136 HGNC KMT2D 8085 genome.wustl.edu 37 12 49426773 49426773 + Silent SNP C C T TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 12 49426773 49426773 C T SNP MLL2 ENST00000301067 human ensembl 70_37 -1 known silent c.11715 p.Q3905 0.723 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC MSH4 4438 genome.wustl.edu 37 1 76276488 76276488 + Missense_Mutation SNP T T C TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 1 76276488 76276488 T C SNP MSH4 ENST00000263187 human ensembl 70_37 +1 known missense c.695 p.F232S 1.000 pfam_DNA_mismatch_repair_MutS_connt,superfamily_DNA_mismatch_repair_MutS_connt pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_connt,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_connt,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C - no_errors MSH4 HGNC MXI1 4601 genome.wustl.edu 37 10 112039840 112039840 + Nonsense_Mutation SNP C C T TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 10 112039840 112039840 C T SNP MXI1 ENST00000332674 human ensembl 70_37 +1 known nonsense c.721 p.R241* 1.000 NULL pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors MXI1 HGNC NAA15 80155 genome.wustl.edu 37 4 140258071 140258071 + Missense_Mutation SNP G G A TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 4 140258071 140258071 G A SNP NAA15 ENST00000296543 human ensembl 70_37 +1 known missense c.209 p.R70H 1.000 smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR-contain_dom pfam_NatA_aux_su,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NAA15 HGNC NBEAL2 23218 genome.wustl.edu 37 3 47045644 47045644 + Missense_Mutation SNP G G A TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 3 47045644 47045644 G A SNP NBEAL2 ENST00000450053 human ensembl 70_37 +1 known missense c.5959 p.A1987T 0.998 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL2 HGNC NEMF 9147 genome.wustl.edu 37 14 50263033 50263033 + RNA SNP G G A TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 14 50263033 50263033 G A SNP NEMF ENST00000556925 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors NEMF HGNC NKAIN2 154215 genome.wustl.edu 37 6 124979592 124979592 + Silent SNP G G A TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 6 124979592 124979592 G A SNP NKAIN2 ENST00000368416 human ensembl 70_37 +1 known silent c.534 p.A178 0.000 NULL pfam_Na/K-Atpase_Interacting - no_errors NKAIN2 HGNC NKRF 55922 genome.wustl.edu 37 X 118724034 118724034 + Missense_Mutation SNP C C T TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 X 118724034 118724034 C T SNP NKRF ENST00000542113 human ensembl 70_37 -1 known missense c.1399 p.V467M 0.994 smart_Ds-RNA-bd pfam_G_patch_dom,pfam_R3H_ss-bd,smart_Ds-RNA-bd,smart_G_patch_dom,smart_R3H_ss-bd,pfscan_G_patch_dom,pfscan_R3H_ss-bd - no_errors NKRF HGNC NUP85 79902 genome.wustl.edu 37 17 73206024 73206024 + Missense_Mutation SNP C C G TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 17 73206024 73206024 C G SNP NUP85 ENST00000245544 human ensembl 70_37 +1 known missense c.234 p.I78M 1.000 pfam_Nucleoporin_Nup85 pfam_Nucleoporin_Nup85 - no_errors NUP85 HGNC NWD1 284434 genome.wustl.edu 37 19 16870140 16870140 + Missense_Mutation SNP G G A TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 19 16870140 16870140 G A SNP NWD1 ENST00000379808 human ensembl 70_37 +1 known missense c.1874 p.R625H 0.976 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NWD1 HGNC OR5G5P 81191 genome.wustl.edu 37 11 56569578 56569578 + RNA SNP C C T TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 11 56569578 56569578 C T SNP OR5G5P ENST00000378368 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors OR5G5P HGNC OVCH1 341350 genome.wustl.edu 37 12 29649490 29649490 + Missense_Mutation SNP T T C TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 12 29649490 29649490 T C SNP OVCH1 ENST00000318184 human ensembl 70_37 -1 known missense c.182 p.Q61R 0.927 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_CUB,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,smart_Peptidase_S1_S6,smart_CUB,pfscan_CUB,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors OVCH1 HGNC PARP16 54956 genome.wustl.edu 37 15 65558985 65558985 + Missense_Mutation SNP C C A TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 15 65558985 65558985 C A SNP PARP16 ENST00000261888 human ensembl 70_37 -1 known missense c.434 p.R145L 1.000 pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP16 HGNC PCDHB13 56123 genome.wustl.edu 37 5 140595503 140595503 + Missense_Mutation SNP C C T TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 5 140595503 140595503 C T SNP PCDHB13 ENST00000341948 human ensembl 70_37 +1 known missense c.1808 p.S603L 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB13 HGNC PCDHGB3 56102 genome.wustl.edu 37 5 140751844 140751844 + Missense_Mutation SNP C C T TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 5 140751844 140751844 C T SNP PCDHGB3 ENST00000576222 human ensembl 70_37 +1 known missense c.1883 p.T628M 0.490 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB3 HGNC PMS2CL 441194 genome.wustl.edu 37 7 6777361 6777361 + RNA SNP G G A TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 7 6777361 6777361 G A SNP PMS2CL ENST00000431453 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors PMS2CL HGNC POLR1C 9533 genome.wustl.edu 37 6 43488402 43488402 + Missense_Mutation SNP G G T TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 6 43488402 43488402 G T SNP POLR1C ENST00000372389 human ensembl 70_37 +1 known missense c.695 p.S232I 1.000 pfam_DNA-dir_RNA_pol_dimersation,superfamily_DNA-dir_RNA_pol_RBP11-like,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3 pfam_DNA-dir_RNA_pol_insert,pfam_DNA-dir_RNA_pol_dimersation,superfamily_DNA-dir_RNA_pol_RBP11-like,superfamily_DNA-dir_RNA_pol_insert,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3 - no_errors POLR1C HGNC PRAM1 84106 genome.wustl.edu 37 19 8563824 8563824 + Missense_Mutation SNP G G T TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 19 8563824 8563824 G T SNP PRAM1 ENST00000423345 human ensembl 70_37 -1 known missense c.868 p.L290I 0.000 NULL superfamily_SH3_domain - no_errors PRAM1 HGNC PSG6 5675 genome.wustl.edu 37 19 43411950 43411950 + Missense_Mutation SNP C C G TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 19 43411950 43411950 C G SNP PSG6 ENST00000292125 human ensembl 70_37 -1 known missense c.763 p.D255H 0.006 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors PSG6 HGNC PTP4A2 8073 genome.wustl.edu 37 1 32384717 32384717 + RNA DEL A A - TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 1 32384717 32384717 A - DEL PTP4A2 ENST00000532289 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors PTP4A2 HGNC RAB5A 5868 genome.wustl.edu 37 3 20017662 20017662 + Splice_Site SNP G G A TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 3 20017662 20017662 G A SNP RAB5A ENST00000273047 human ensembl 70_37 +1 known splice_site c.438+1 e3+1 1.000 - - - no_errors RAB5A HGNC RNF39 80352 genome.wustl.edu 37 6 30043421 30043421 + Missense_Mutation SNP G G A TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 6 30043421 30043421 G A SNP RNF39 ENST00000244360 human ensembl 70_37 -1 known missense c.146 p.A49V 0.020 NULL pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin - no_errors RNF39 HGNC RPS6KA3 6197 genome.wustl.edu 37 X 20179862 20179862 + Missense_Mutation SNP T T A TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 X 20179862 20179862 T A SNP RPS6KA3 ENST00000379565 human ensembl 70_37 -1 known missense c.1859 p.N620I 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RPS6KA3 HGNC RRN3P2 653390 genome.wustl.edu 37 16 29088021 29088021 + RNA SNP C C T TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 16 29088021 29088021 C T SNP RRN3P2 ENST00000427965 human ensembl 70_37 +1 known rna NULL NULL 0.984 - - - no_errors RRN3P2 HGNC SERPINA11 256394 genome.wustl.edu 37 14 94914645 94914645 + Missense_Mutation SNP C C T TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 14 94914645 94914645 C T SNP SERPINA11 ENST00000334708 human ensembl 70_37 -1 known missense c.467 p.S156N 0.028 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA11 HGNC SGIP1 84251 genome.wustl.edu 37 1 66999882 66999882 + RNA SNP C C A TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 1 66999882 66999882 C A SNP SGIP1 ENST00000468286 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors SGIP1 HGNC SLC9B2 133308 genome.wustl.edu 37 4 103987647 103987647 + Silent SNP C C T TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 4 103987647 103987647 C T SNP SLC9B2 ENST00000362026 human ensembl 70_37 -1 known silent c.108 p.K36 0.000 NULL pfam_Cation/H_exchanger - no_errors SLC9B2 HGNC SNORA6 574040 genome.wustl.edu 37 3 39449940 39449940 + RNA SNP G G A TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 3 39449940 39449940 G A SNP SNORA6 ENST00000384033 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors SNORA6 HGNC SPRR2D 6703 genome.wustl.edu 37 1 153012728 153012728 + Missense_Mutation SNP C C G TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 1 153012728 153012728 C G SNP SPRR2D ENST00000360379 human ensembl 70_37 -1 known missense c.95 p.C32S 0.008 NULL NULL - no_errors SPRR2D HGNC SYT3 84258 genome.wustl.edu 37 19 51128817 51128817 + Silent SNP G G T TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 19 51128817 51128817 G T SNP SYT3 ENST00000338916 human ensembl 70_37 -1 known silent c.1407 p.P469 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom - no_errors SYT3 HGNC TAS2R19 259294 genome.wustl.edu 37 12 11174729 11174729 + Missense_Mutation SNP T T A TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 12 11174729 11174729 T A SNP TAS2R19 ENST00000390673 human ensembl 70_37 -1 known missense c.442 p.T148S 0.000 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R19 HGNC TCHHL1 126637 genome.wustl.edu 37 1 152058923 152058923 + Missense_Mutation SNP G G A TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 1 152058923 152058923 G A SNP TCHHL1 ENST00000368806 human ensembl 70_37 -1 known missense c.1235 p.T412I 0.000 NULL pfam_S100_Ca-bd_sub - no_errors TCHHL1 HGNC TP73 7161 genome.wustl.edu 37 1 3639972 3639973 + Frame_Shift_Ins INS - - GTAT TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 1 3639972 3639973 - GTAT INS TP73 ENST00000378295 human ensembl 70_37 +1 known frame_shift_ins c.671_672 p.D227fs 1.000:1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor - no_errors TP73 HGNC TRIAP1 51499 genome.wustl.edu 37 12 120883974 120883974 + RNA SNP G G T TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 12 120883974 120883974 G T SNP TRIAP1 ENST00000302432 human ensembl 70_37 -1 putative rna NULL NULL 0.003 - - - no_errors TRIAP1 HGNC TRIP11 9321 genome.wustl.edu 37 14 92488177 92488177 + Splice_Site SNP T T C TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 14 92488177 92488177 T C SNP TRIP11 ENST00000267622 human ensembl 70_37 -1 known splice_site c.313-2 e4-2 1.000 - - - no_errors TRIP11 HGNC TTN 7273 genome.wustl.edu 37 2 179469753 179469753 + Missense_Mutation SNP G G T TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 2 179469753 179469753 G T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.46447 p.L15483I 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TTN 7273 genome.wustl.edu 37 2 179582536 179582536 + Silent SNP C C T TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 2 179582536 179582536 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known silent c.21333 p.A7111 0.999 superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC UBE2O 63893 genome.wustl.edu 37 17 74394424 74394424 + Missense_Mutation SNP G G T TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 17 74394424 74394424 G T SNP UBE2O ENST00000319380 human ensembl 70_37 -1 known missense c.1937 p.A646D 1.000 NULL pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2O HGNC UBE2Q1 55585 genome.wustl.edu 37 1 154524884 154524884 + Missense_Mutation SNP G G T TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 1 154524884 154524884 G T SNP UBE2Q1 ENST00000292211 human ensembl 70_37 -1 known missense c.871 p.L291I 1.000 superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2Q1 HGNC ULK4 54986 genome.wustl.edu 37 3 41996205 41996205 + Missense_Mutation SNP G G T TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 3 41996205 41996205 G T SNP ULK4 ENST00000301831 human ensembl 70_37 -1 known missense c.47 p.T16N 0.998 pfam_Prot_kinase_cat_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_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors ULK4 HGNC VWF 7450 genome.wustl.edu 37 12 6132797 6132797 + Missense_Mutation SNP G G A TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 12 6132797 6132797 G A SNP VWF ENST00000261405 human ensembl 70_37 -1 known missense c.3379 p.P1127S 1.000 pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich,pirsf_VWF pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pirsf_VWF,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C - no_errors VWF HGNC WDR65 149465 genome.wustl.edu 37 1 43647253 43647253 + Missense_Mutation SNP G G T TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 1 43647253 43647253 G T SNP WDR65 ENST00000528956 human ensembl 70_37 +1 known missense c.206 p.R69L 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR65 HGNC WWC2 80014 genome.wustl.edu 37 4 184175053 184175053 + Missense_Mutation SNP G G A TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 4 184175053 184175053 G A SNP WWC2 ENST00000448232 human ensembl 70_37 +1 known missense c.1097 p.R366H 1.000 NULL pfam_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP - no_errors WWC2 HGNC ZBTB12 221527 genome.wustl.edu 37 6 31868724 31868724 + Missense_Mutation SNP C C T TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 6 31868724 31868724 C T SNP ZBTB12 ENST00000375527 human ensembl 70_37 -1 known missense c.359 p.R120Q 0.273 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB12 HGNC ZBTB34 403341 genome.wustl.edu 37 9 129642988 129642988 + Missense_Mutation SNP G G T TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 9 129642988 129642988 G T SNP ZBTB34 ENST00000319119 human ensembl 70_37 +1 known missense c.1310 p.C437F 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB34 HGNC ZNF655 79027 genome.wustl.edu 37 7 99172797 99172797 + RNA SNP G G T TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 88f672e6-0cc0-477f-894e-6d3629f0fcf0 ba1d4010-a849-4c5f-a482-29e1898f03f5 7 99172797 99172797 G T SNP ZNF655 ENST00000419215 human ensembl 70_37 +1 known rna NULL NULL 0.132 - - - no_errors ZNF655 HGNC