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 title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF VAV3 0 genome.wustl.edu 37 1 108247235 108247235 + Missense_Mutation SNP C C T TCGA-CD-5803-01A-11D-1600-08 TCGA-CD-5803-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1243c079-6330-4100-a59d-7710770aaa84 b68a283f-dd10-44d6-b5c5-594ef218d469 1 108247235 108247235 C T SNP VAV3 ENST00000370056 human ensembl 74_37 -1 known missense c.1642 p.G548R 1.000 pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd pfam_DH-domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH3_domain,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH2,prints_SH3_domain,prints_SM22_calponin - no_errors VAV3 HGNC ENSG00000134215 127 0 0 150 8 5.06329 OR2T27 0 genome.wustl.edu 37 1 248813773 248813773 + Missense_Mutation SNP C C T TCGA-CD-5803-01A-11D-1600-08 TCGA-CD-5803-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1243c079-6330-4100-a59d-7710770aaa84 b68a283f-dd10-44d6-b5c5-594ef218d469 1 248813773 248813773 C T SNP OR2T27 ENST00000344889 human ensembl 74_37 -1 known missense c.413 p.R138H 0.043 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T27 HGNC ENSG00000187701 102 0 0 95 17 15.1786 ARID1A 0 genome.wustl.edu 37 1 27059176 27059176 + Nonsense_Mutation SNP C C T TCGA-CD-5803-01A-11D-1600-08 TCGA-CD-5803-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1243c079-6330-4100-a59d-7710770aaa84 b68a283f-dd10-44d6-b5c5-594ef218d469 1 27059176 27059176 C T SNP ARID1A ENST00000324856 human ensembl 74_37 +1 known nonsense c.1813 p.Q605* 1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 188 1 0.529101 125 17 11.9718 NASP 0 genome.wustl.edu 37 1 46073406 46073406 + Missense_Mutation SNP A A C TCGA-CD-5803-01A-11D-1600-08 TCGA-CD-5803-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1243c079-6330-4100-a59d-7710770aaa84 b68a283f-dd10-44d6-b5c5-594ef218d469 1 46073406 46073406 A C SNP NASP ENST00000402363 human ensembl 74_37 +1 known missense c.829 p.K277Q 0.017 NULL pfam_Tetratricopeptide_SHNi-TPR_dom,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NASP HGNC ENSG00000132780 51 0 0 49 3 5.76923 ADARB2 0 genome.wustl.edu 37 10 1230815 1230815 + Missense_Mutation SNP G G A TCGA-CD-5803-01A-11D-1600-08 TCGA-CD-5803-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1243c079-6330-4100-a59d-7710770aaa84 b68a283f-dd10-44d6-b5c5-594ef218d469 10 1230815 1230815 G A SNP ADARB2 ENST00000381312 human ensembl 74_37 -1 known missense c.2029 p.R677W 0.282 pfam_A_deamin,smart_A_deamin,pfscan_A_deamin pfam_A_deamin,pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_A_deamin - no_errors ADARB2 HGNC ENSG00000185736 31 0 0 20 3 13.0435 SLC22A8 0 genome.wustl.edu 37 11 62763206 62763206 + Missense_Mutation SNP C C T TCGA-CD-5803-01A-11D-1600-08 TCGA-CD-5803-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1243c079-6330-4100-a59d-7710770aaa84 b68a283f-dd10-44d6-b5c5-594ef218d469 11 62763206 62763206 C T SNP SLC22A8 ENST00000336232 human ensembl 74_37 -1 known missense c.971 p.R324H 0.943 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A8 HGNC ENSG00000149452 177 0 0 130 18 12.1622 NLRP14 0 genome.wustl.edu 37 11 7064427 7064427 + Silent SNP A A T TCGA-CD-5803-01A-11D-1600-08 TCGA-CD-5803-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1243c079-6330-4100-a59d-7710770aaa84 b68a283f-dd10-44d6-b5c5-594ef218d469 11 7064427 7064427 A T SNP NLRP14 ENST00000299481 human ensembl 74_37 +1 known silent c.1170 p.T390 0.000 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP14 HGNC ENSG00000158077 231 0 0 283 24 7.81759 TRIM49C 0 genome.wustl.edu 37 11 89774323 89774323 + Missense_Mutation SNP A A T TCGA-CD-5803-01A-11D-1600-08 TCGA-CD-5803-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1243c079-6330-4100-a59d-7710770aaa84 b68a283f-dd10-44d6-b5c5-594ef218d469 11 89774323 89774323 A T SNP TRIM49C ENST00000448984 human ensembl 74_37 +1 known missense c.964 p.T322S 0.000 superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,superfamily_Lambda_DNA-bd_dom,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM49C HGNC ENSG00000204449 103 0 0 101 13 11.4035 NOS1 0 genome.wustl.edu 37 12 117768788 117768788 + Silent SNP T T A TCGA-CD-5803-01A-11D-1600-08 TCGA-CD-5803-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1243c079-6330-4100-a59d-7710770aaa84 b68a283f-dd10-44d6-b5c5-594ef218d469 12 117768788 117768788 T A SNP NOS1 ENST00000317775 human ensembl 74_37 -1 known silent c.87 p.G29 0.210 pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_NOS_euk,pfscan_PDZ pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_euk,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS1 HGNC ENSG00000089250 140 0 0 117 15 11.3636 CABP1 0 genome.wustl.edu 37 12 121098064 121098064 + Missense_Mutation SNP G G T TCGA-CD-5803-01A-11D-1600-08 TCGA-CD-5803-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1243c079-6330-4100-a59d-7710770aaa84 b68a283f-dd10-44d6-b5c5-594ef218d469 12 121098064 121098064 G T SNP CABP1 ENST00000316803 human ensembl 74_37 +1 known missense c.751 p.G251C 1.000 pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CABP1 HGNC ENSG00000157782 67 0 0 60 7 10.4478 AVIL 0 genome.wustl.edu 37 12 58193602 58193602 + Missense_Mutation SNP C C G TCGA-CD-5803-01A-11D-1600-08 TCGA-CD-5803-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1243c079-6330-4100-a59d-7710770aaa84 b68a283f-dd10-44d6-b5c5-594ef218d469 12 58193602 58193602 C G SNP AVIL ENST00000257861 human ensembl 74_37 -1 known missense c.2322 p.E774D 0.995 superfamily_Villin_headpiece,pfscan_Villin_headpiece pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin - no_errors AVIL HGNC ENSG00000135407 331 0 0 311 28 8.25959 M6PR 0 genome.wustl.edu 37 12 9096098 9096098 + Missense_Mutation SNP T T C TCGA-CD-5803-01A-11D-1600-08 TCGA-CD-5803-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1243c079-6330-4100-a59d-7710770aaa84 b68a283f-dd10-44d6-b5c5-594ef218d469 12 9096098 9096098 T C SNP M6PR ENST00000000412 human ensembl 74_37 -1 known missense c.487 p.K163E 1.000 superfamily_Man6P_isomerase_rcpt-bd_dom,prints_Man_6_P_rcpt superfamily_Man6P_isomerase_rcpt-bd_dom,prints_Man_6_P_rcpt - no_errors M6PR HGNC ENSG00000003056 155 0 0 172 12 6.52174 SPG11 0 genome.wustl.edu 37 15 44867122 44867122 + Missense_Mutation SNP A A G TCGA-CD-5803-01A-11D-1600-08 TCGA-CD-5803-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1243c079-6330-4100-a59d-7710770aaa84 b68a283f-dd10-44d6-b5c5-594ef218d469 15 44867122 44867122 A G SNP SPG11 ENST00000261866 human ensembl 74_37 -1 known missense c.5984 p.L1995P 0.999 NULL NULL - no_errors SPG11 HGNC ENSG00000104133 199 0 0 153 30 16.3934 MYEF2 0 genome.wustl.edu 37 15 48460981 48460981 + Missense_Mutation SNP C C T TCGA-CD-5803-01A-11D-1600-08 TCGA-CD-5803-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1243c079-6330-4100-a59d-7710770aaa84 b68a283f-dd10-44d6-b5c5-594ef218d469 15 48460981 48460981 C T SNP MYEF2 ENST00000324324 human ensembl 74_37 -1 known missense c.217 p.G73R 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors MYEF2 HGNC ENSG00000104177 134 0 0 136 10 6.84932 CHRNA3 0 genome.wustl.edu 37 15 78909415 78909415 + Missense_Mutation SNP G G C TCGA-CD-5803-01A-11D-1600-08 TCGA-CD-5803-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1243c079-6330-4100-a59d-7710770aaa84 b68a283f-dd10-44d6-b5c5-594ef218d469 15 78909415 78909415 G C SNP CHRNA3 ENST00000326828 human ensembl 74_37 -1 known missense c.328 p.R110G 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA3 HGNC ENSG00000080644 44 0 0 47 4 7.84314 CHRNA3 0 genome.wustl.edu 37 15 78909416 78909416 + Missense_Mutation SNP C C T TCGA-CD-5803-01A-11D-1600-08 TCGA-CD-5803-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1243c079-6330-4100-a59d-7710770aaa84 b68a283f-dd10-44d6-b5c5-594ef218d469 15 78909416 78909416 C T SNP CHRNA3 ENST00000326828 human ensembl 74_37 -1 known missense c.327 p.M109I 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA3 HGNC ENSG00000080644 45 0 0 48 4 7.69231 SCNN1G 0 genome.wustl.edu 37 16 23197794 23197794 + Missense_Mutation SNP C C G TCGA-CD-5803-01A-11D-1600-08 TCGA-CD-5803-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1243c079-6330-4100-a59d-7710770aaa84 b68a283f-dd10-44d6-b5c5-594ef218d469 16 23197794 23197794 C G SNP SCNN1G ENST00000300061 human ensembl 74_37 +1 known missense c.202 p.L68V 0.129 pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors SCNN1G HGNC ENSG00000166828 96 0 0 88 16 15.3846 SLC5A5 0 genome.wustl.edu 37 19 18001723 18001723 + Silent SNP G G A TCGA-CD-5803-01A-11D-1600-08 TCGA-CD-5803-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1243c079-6330-4100-a59d-7710770aaa84 b68a283f-dd10-44d6-b5c5-594ef218d469 19 18001723 18001723 G A SNP SLC5A5 ENST00000222248 human ensembl 74_37 +1 known silent c.1680 p.P560 0.448 NULL pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A5 HGNC ENSG00000105641 244 0 0 183 23 11.165 ZNF461 0 genome.wustl.edu 37 19 37130636 37130636 + Missense_Mutation SNP T T A TCGA-CD-5803-01A-11D-1600-08 TCGA-CD-5803-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1243c079-6330-4100-a59d-7710770aaa84 b68a283f-dd10-44d6-b5c5-594ef218d469 19 37130636 37130636 T A SNP ZNF461 ENST00000588268 human ensembl 74_37 -1 known missense c.611 p.H204L 0.062 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF461 HGNC ENSG00000197808 193 0 0 160 23 12.5683 CCDC114 0 genome.wustl.edu 37 19 48806042 48806042 + Missense_Mutation SNP C C A TCGA-CD-5803-01A-11D-1600-08 TCGA-CD-5803-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1243c079-6330-4100-a59d-7710770aaa84 b68a283f-dd10-44d6-b5c5-594ef218d469 19 48806042 48806042 C A SNP CCDC114 ENST00000315396 human ensembl 74_37 -1 known missense c.1038 p.L346F 0.435 NULL NULL - no_errors CCDC114 HGNC ENSG00000105479 191 0 0 153 26 14.5251 PTPRS 0 genome.wustl.edu 37 19 5258067 5258067 + Missense_Mutation SNP C C T TCGA-CD-5803-01A-11D-1600-08 TCGA-CD-5803-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1243c079-6330-4100-a59d-7710770aaa84 b68a283f-dd10-44d6-b5c5-594ef218d469 19 5258067 5258067 C T SNP PTPRS ENST00000372412 human ensembl 74_37 -1 known missense c.670 p.G224S 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,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,pfscan_Ig-like_dom - no_errors PTPRS HGNC ENSG00000105426 170 0 0 121 19 13.5714 ZNF814 0 genome.wustl.edu 37 19 58385762 58385762 + Silent SNP C C G TCGA-CD-5803-01A-11D-1600-08 TCGA-CD-5803-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1243c079-6330-4100-a59d-7710770aaa84 b68a283f-dd10-44d6-b5c5-594ef218d469 19 58385762 58385762 C G SNP ZNF814 ENST00000435989 human ensembl 74_37 -1 known silent c.996 p.S332 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF814 HGNC ENSG00000204514 8 0 0 14 3 17.6471 ZNF132 0 genome.wustl.edu 37 19 58946280 58946280 + Silent SNP G G A TCGA-CD-5803-01A-11D-1600-08 TCGA-CD-5803-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1243c079-6330-4100-a59d-7710770aaa84 b68a283f-dd10-44d6-b5c5-594ef218d469 19 58946280 58946280 G A SNP ZNF132 ENST00000254166 human ensembl 74_37 -1 known silent c.531 p.D177 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF132 HGNC ENSG00000131849 179 0 0 189 21 10 CNTNAP5 0 genome.wustl.edu 37 2 125660527 125660527 + Missense_Mutation SNP G G A TCGA-CD-5803-01A-11D-1600-08 TCGA-CD-5803-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1243c079-6330-4100-a59d-7710770aaa84 b68a283f-dd10-44d6-b5c5-594ef218d469 2 125660527 125660527 G A SNP CNTNAP5 ENST00000431078 human ensembl 74_37 +1 known missense c.3502 p.V1168I 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP5 HGNC ENSG00000155052 34 0 0 32 5 13.5135 FANCD2 0 genome.wustl.edu 37 3 10081483 10081483 + Missense_Mutation SNP G G A TCGA-CD-5803-01A-11D-1600-08 TCGA-CD-5803-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1243c079-6330-4100-a59d-7710770aaa84 b68a283f-dd10-44d6-b5c5-594ef218d469 3 10081483 10081483 G A SNP FANCD2 ENST00000287647 human ensembl 74_37 +1 known missense c.649 p.E217K 1.000 NULL superfamily_ARM-type_fold - no_errors FANCD2 HGNC ENSG00000144554 159 0 0 144 17 10.559 RASA2 0 genome.wustl.edu 37 3 141305519 141305519 + Missense_Mutation SNP C C T TCGA-CD-5803-01A-11D-1600-08 TCGA-CD-5803-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1243c079-6330-4100-a59d-7710770aaa84 b68a283f-dd10-44d6-b5c5-594ef218d469 3 141305519 141305519 C T SNP RASA2 ENST00000452898 human ensembl 74_37 +1 known missense c.1858 p.R620W 1.000 pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RasGAP,pfam_C2_dom,pfam_Pleckstrin_homology,pfam_Znf_Btk_motif,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_C2_dom,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP,prints_Znf_Btk_motif - no_errors RASA2 HGNC ENSG00000155903 63 0 0 53 9 14.5161 OTOL1 0 genome.wustl.edu 37 3 161221712 161221712 + Silent SNP T T C TCGA-CD-5803-01A-11D-1600-08 TCGA-CD-5803-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1243c079-6330-4100-a59d-7710770aaa84 b68a283f-dd10-44d6-b5c5-594ef218d469 3 161221712 161221712 T C SNP OTOL1 ENST00000327928 human ensembl 74_37 +1 known silent c.1416 p.T472 0.000 pfscan_C1q pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors OTOL1 HGNC ENSG00000182447 58 0 0 62 7 10.1449 SLC6A20 0 genome.wustl.edu 37 3 45814049 45814049 + Missense_Mutation SNP C C A TCGA-CD-5803-01A-11D-1600-08 TCGA-CD-5803-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1243c079-6330-4100-a59d-7710770aaa84 b68a283f-dd10-44d6-b5c5-594ef218d469 3 45814049 45814049 C A SNP SLC6A20 ENST00000358525 human ensembl 74_37 -1 known missense c.641 p.G214V 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan - no_errors SLC6A20 HGNC ENSG00000163817 62 0 0 54 8 12.9032 SPATA18 0 genome.wustl.edu 37 4 52945045 52945045 + Missense_Mutation SNP C C A TCGA-CD-5803-01A-11D-1600-08 TCGA-CD-5803-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1243c079-6330-4100-a59d-7710770aaa84 b68a283f-dd10-44d6-b5c5-594ef218d469 4 52945045 52945045 C A SNP SPATA18 ENST00000295213 human ensembl 74_37 +1 known missense c.1165 p.Q389K 1.000 NULL NULL - no_errors SPATA18 HGNC ENSG00000163071 290 0 0 290 18 5.84416 KIAA1211 0 genome.wustl.edu 37 4 57189672 57189672 + Missense_Mutation SNP C C T TCGA-CD-5803-01A-11D-1600-08 TCGA-CD-5803-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1243c079-6330-4100-a59d-7710770aaa84 b68a283f-dd10-44d6-b5c5-594ef218d469 4 57189672 57189672 C T SNP KIAA1211 ENST00000504228 human ensembl 74_37 +1 known missense c.3317 p.T1106M 0.315 NULL NULL - no_errors KIAA1211 HGNC ENSG00000109265 40 0 0 39 5 11.3636 NOA1 0 genome.wustl.edu 37 4 57842918 57842918 + Silent SNP C C G TCGA-CD-5803-01A-11D-1600-08 TCGA-CD-5803-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1243c079-6330-4100-a59d-7710770aaa84 b68a283f-dd10-44d6-b5c5-594ef218d469 4 57842918 57842918 C G SNP NOA1 ENST00000264230 human ensembl 74_37 -1 known silent c.834 p.L278 0.000 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors NOA1 HGNC ENSG00000084092 53 0 0 56 3 5.08475 WNT8A 0 genome.wustl.edu 37 5 137426675 137426675 + Silent SNP G G A TCGA-CD-5803-01A-11D-1600-08 TCGA-CD-5803-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1243c079-6330-4100-a59d-7710770aaa84 b68a283f-dd10-44d6-b5c5-594ef218d469 5 137426675 137426675 G A SNP WNT8A ENST00000361560 human ensembl 74_37 +1 known silent c.969 p.K323 1.000 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt8 - no_errors WNT8A HGNC ENSG00000061492 112 0 0 124 14 10.1449 KDM3B 0 genome.wustl.edu 37 5 137734048 137734048 + Missense_Mutation SNP G G C TCGA-CD-5803-01A-11D-1600-08 TCGA-CD-5803-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1243c079-6330-4100-a59d-7710770aaa84 b68a283f-dd10-44d6-b5c5-594ef218d469 5 137734048 137734048 G C SNP KDM3B ENST00000314358 human ensembl 74_37 +1 known missense c.3013 p.E1005Q 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3B HGNC ENSG00000120733 123 0 0 115 18 13.5338 PCDHA8 0 genome.wustl.edu 37 5 140222519 140222519 + Missense_Mutation SNP G G A TCGA-CD-5803-01A-11D-1600-08 TCGA-CD-5803-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1243c079-6330-4100-a59d-7710770aaa84 b68a283f-dd10-44d6-b5c5-594ef218d469 5 140222519 140222519 G A SNP PCDHA8 ENST00000531613 human ensembl 74_37 +1 known missense c.1613 p.R538H 0.446 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA8 HGNC ENSG00000204962 39 0 0 38 19 33.3333 ZNF300P1 0 genome.wustl.edu 37 5 150310621 150310621 + RNA SNP G G T TCGA-CD-5803-01A-11D-1600-08 TCGA-CD-5803-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1243c079-6330-4100-a59d-7710770aaa84 b68a283f-dd10-44d6-b5c5-594ef218d469 5 150310621 150310621 G T SNP ZNF300P1 ENST00000520773 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors ZNF300P1 HGNC ENSG00000197083 34 0 0 38 4 9.52381 AGXT2 0 genome.wustl.edu 37 5 35033593 35033593 + Missense_Mutation SNP T T C TCGA-CD-5803-01A-11D-1600-08 TCGA-CD-5803-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1243c079-6330-4100-a59d-7710770aaa84 b68a283f-dd10-44d6-b5c5-594ef218d469 5 35033593 35033593 T C SNP AGXT2 ENST00000231420 human ensembl 74_37 -1 known missense c.647 p.E216G 0.000 pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase - no_errors AGXT2 HGNC ENSG00000113492 105 0 0 114 18 13.6364 TBP 0 genome.wustl.edu 37 6 170871034 170871034 + Silent SNP G G A TCGA-CD-5803-01A-11D-1600-08 TCGA-CD-5803-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1243c079-6330-4100-a59d-7710770aaa84 b68a283f-dd10-44d6-b5c5-594ef218d469 6 170871034 170871034 G A SNP TBP ENST00000230354 human ensembl 74_37 +1 known silent c.210 p.Q70 0.924 NULL pfam_TBP,prints_TBP - no_errors TBP HGNC ENSG00000112592 20 0 0 20 4 16.6667 ORAI2 0 genome.wustl.edu 37 7 102079422 102079422 + Missense_Mutation SNP G G A TCGA-CD-5803-01A-11D-1600-08 TCGA-CD-5803-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1243c079-6330-4100-a59d-7710770aaa84 b68a283f-dd10-44d6-b5c5-594ef218d469 7 102079422 102079422 G A SNP ORAI2 ENST00000356387 human ensembl 74_37 +1 known missense c.19 p.V7M 1.000 NULL pfam_CRAC_channel - no_errors ORAI2 HGNC ENSG00000160991 224 0 0 211 24 10.2128 JHDM1D 0 genome.wustl.edu 37 7 139829297 139829297 + Silent SNP A A G TCGA-CD-5803-01A-11D-1600-08 TCGA-CD-5803-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1243c079-6330-4100-a59d-7710770aaa84 b68a283f-dd10-44d6-b5c5-594ef218d469 7 139829297 139829297 A G SNP JHDM1D ENST00000397560 human ensembl 74_37 -1 known silent c.555 p.Y185 1.000 NULL pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors JHDM1D HGNC ENSG00000006459 135 0 0 121 21 14.7887 KRIT1 0 genome.wustl.edu 37 7 91864228 91864228 + Missense_Mutation SNP C C T TCGA-CD-5803-01A-11D-1600-08 TCGA-CD-5803-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1243c079-6330-4100-a59d-7710770aaa84 b68a283f-dd10-44d6-b5c5-594ef218d469 7 91864228 91864228 C T SNP KRIT1 ENST00000340022 human ensembl 74_37 -1 known missense c.739 p.V247M 1.000 NULL pfam_FERM_central,superfamily_Ankyrin_rpt-contain_dom,superfamily_FERM_central,smart_Ankyrin_rpt,smart_Band_41_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_FERM_domain - no_errors KRIT1 HGNC ENSG00000001631 149 0 0 110 10 8.33333 ATP5J2-PTCD1 0 genome.wustl.edu 37 7 99021504 99021504 + Missense_Mutation SNP T T C TCGA-CD-5803-01A-11D-1600-08 TCGA-CD-5803-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1243c079-6330-4100-a59d-7710770aaa84 b68a283f-dd10-44d6-b5c5-594ef218d469 7 99021504 99021504 T C SNP ATP5J2-PTCD1 ENST00000413834 human ensembl 74_37 -1 known missense c.1961 p.Y654C 1.000 NULL pfam_Pentatricopeptide_repeat,pfam_F1F0-ATPsyn_F_prd,tigrfam_Pentatricopeptide_repeat - no_errors ATP5J2-PTCD1 HGNC ENSG00000248919 153 0 0 128 18 12.3288 RGS3 0 genome.wustl.edu 37 9 116346507 116346507 + Missense_Mutation SNP C C T TCGA-CD-5803-01A-11D-1600-08 TCGA-CD-5803-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1243c079-6330-4100-a59d-7710770aaa84 b68a283f-dd10-44d6-b5c5-594ef218d469 9 116346507 116346507 C T SNP RGS3 ENST00000350696 human ensembl 74_37 +1 known missense c.2815 p.R939C 1.000 NULL pfam_RGS_dom,pfam_C2_dom,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_C2_dom,superfamily_PDZ,smart_C2_dom,smart_PDZ,smart_Regulat_G_prot_signal_superfam,pfscan_C2_dom,pfscan_PDZ,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS3 HGNC ENSG00000138835 71 0 0 67 4 5.6338 COL4A5 0 genome.wustl.edu 37 X 107802349 107802349 + Missense_Mutation SNP G G T TCGA-CD-5803-01A-11D-1600-08 TCGA-CD-5803-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1243c079-6330-4100-a59d-7710770aaa84 b68a283f-dd10-44d6-b5c5-594ef218d469 X 107802349 107802349 G T SNP COL4A5 ENST00000328300 human ensembl 74_37 +1 known missense c.197 p.G66V 1.000 NULL pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A5 HGNC ENSG00000188153 207 0 0 160 24 13.0435 TLR8 0 genome.wustl.edu 37 X 12939190 12939190 + Missense_Mutation SNP G G T TCGA-CD-5803-01A-11D-1600-08 TCGA-CD-5803-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1243c079-6330-4100-a59d-7710770aaa84 b68a283f-dd10-44d6-b5c5-594ef218d469 X 12939190 12939190 G T SNP TLR8 ENST00000218032 human ensembl 74_37 +1 known missense c.2031 p.K677N 0.000 NULL pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR8 HGNC ENSG00000101916 209 1 0.47619 234 13 5.26316 MAGIX 0 genome.wustl.edu 37 X 49021179 49021179 + Silent SNP A A T TCGA-CD-5803-01A-11D-1600-08 TCGA-CD-5803-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1243c079-6330-4100-a59d-7710770aaa84 b68a283f-dd10-44d6-b5c5-594ef218d469 X 49021179 49021179 A T SNP MAGIX ENST00000376338 human ensembl 74_37 +1 known silent c.81 p.V27 0.001 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors MAGIX HGNC ENSG00000017621 301 0 0 257 54 17.3633 SMAD4 0 genome.wustl.edu 37 18 48591920 48591949 + In_Frame_Del DEL CTTTTGTTTGGGTCAACTCTCCAATGTCCA CTTTTGTTTGGGTCAACTCTCCAATGTCCA - TCGA-CD-5803-01A-11D-1600-08 TCGA-CD-5803-10A-01D-1600-08 CTTTTGTTTGGGTCAACTCTCCAATGTCCA CTTTTGTTTGGGTCAACTCTCCAATGTCCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1243c079-6330-4100-a59d-7710770aaa84 b68a283f-dd10-44d6-b5c5-594ef218d469 18 48591920 48591949 CTTTTGTTTGGGTCAACTCTCCAATGTCCA - DEL SMAD4 ENST00000342988 human ensembl 74_37 +1 known in_frame_del c.1083_1112 p.FCLGQLSNVH362in_frame_del 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.996:1.000:1.000 pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD4 HGNC ENSG00000141646 92 0 0 70 6 7.89474