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 ABCA3 0 genome.wustl.edu 37 16 2349508 2349508 + Missense_Mutation SNP C C T TCGA-IN-AB1V-01A-21D-A410-08 TCGA-IN-AB1V-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9d53789-cc98-4016-92e3-e752dc6cd891 de7daf62-f9a3-46c3-9ef1-4ffa1578268c 16 2349508 2349508 C T SNP ABCA3 ENST00000301732 human ensembl 74_37 -1 known missense c.1637 p.R546K 0.000 superfamily_P-loop_NTPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA3 HGNC ENSG00000167972 tier1 - - 227 0 0.00 118 21 15.11 ASIC2 0 genome.wustl.edu 37 17 31415932 31415932 + Silent SNP G G T TCGA-IN-AB1V-01A-21D-A410-08 TCGA-IN-AB1V-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9d53789-cc98-4016-92e3-e752dc6cd891 de7daf62-f9a3-46c3-9ef1-4ffa1578268c 17 31415932 31415932 G T SNP ASIC2 ENST00000225823 human ensembl 74_37 -1 known silent c.936 p.G312 1.000 pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors ASIC2 HGNC ENSG00000108684 tier1 - - 55 0 0.00 35 4 10.26 ATP6V0D2 0 genome.wustl.edu 37 8 87165044 87165044 + Splice_Site SNP G G A TCGA-IN-AB1V-01A-21D-A410-08 TCGA-IN-AB1V-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9d53789-cc98-4016-92e3-e752dc6cd891 de7daf62-f9a3-46c3-9ef1-4ffa1578268c 8 87165044 87165044 G A SNP ATP6V0D2 ENST00000285393 human ensembl 74_37 +1 known splice_site c.892-1 e8-1 1.000 - - - no_errors ATP6V0D2 HGNC ENSG00000147614 tier1 - - 179 0 0.00 90 32 26.23 ATP6V0D2 0 genome.wustl.edu 37 8 87165113 87165113 + Silent SNP G G A TCGA-IN-AB1V-01A-21D-A410-08 TCGA-IN-AB1V-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9d53789-cc98-4016-92e3-e752dc6cd891 de7daf62-f9a3-46c3-9ef1-4ffa1578268c 8 87165113 87165113 G A SNP ATP6V0D2 ENST00000285393 human ensembl 74_37 +1 known silent c.960 p.L320 1.000 pfam_ATPase_V0-cplx_csu/dsu,superfamily_ATPase_V0-cplx_csu/dsu,pirsf_ATPase_V0-cplx_dsu pfam_ATPase_V0-cplx_csu/dsu,superfamily_ATPase_V0-cplx_csu/dsu,pirsf_ATPase_V0-cplx_dsu - no_errors ATP6V0D2 HGNC ENSG00000147614 tier1 - - 186 0 0.00 108 28 20.59 ATP6V0D2 0 genome.wustl.edu 37 8 87165116 87165116 + Silent SNP G G A TCGA-IN-AB1V-01A-21D-A410-08 TCGA-IN-AB1V-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9d53789-cc98-4016-92e3-e752dc6cd891 de7daf62-f9a3-46c3-9ef1-4ffa1578268c 8 87165116 87165116 G A SNP ATP6V0D2 ENST00000285393 human ensembl 74_37 +1 known silent c.963 p.K321 1.000 pfam_ATPase_V0-cplx_csu/dsu,superfamily_ATPase_V0-cplx_csu/dsu,pirsf_ATPase_V0-cplx_dsu pfam_ATPase_V0-cplx_csu/dsu,superfamily_ATPase_V0-cplx_csu/dsu,pirsf_ATPase_V0-cplx_dsu - no_errors ATP6V0D2 HGNC ENSG00000147614 tier1 - - 180 0 0.00 100 34 25.37 ATP6V0D2 0 genome.wustl.edu 37 8 87165130 87165130 + Missense_Mutation SNP G G A TCGA-IN-AB1V-01A-21D-A410-08 TCGA-IN-AB1V-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9d53789-cc98-4016-92e3-e752dc6cd891 de7daf62-f9a3-46c3-9ef1-4ffa1578268c 8 87165130 87165130 G A SNP ATP6V0D2 ENST00000285393 human ensembl 74_37 +1 known missense c.977 p.R326K 1.000 pfam_ATPase_V0-cplx_csu/dsu,superfamily_ATPase_V0-cplx_csu/dsu,pirsf_ATPase_V0-cplx_dsu pfam_ATPase_V0-cplx_csu/dsu,superfamily_ATPase_V0-cplx_csu/dsu,pirsf_ATPase_V0-cplx_dsu - no_errors ATP6V0D2 HGNC ENSG00000147614 tier1 - - 145 0 0.00 79 31 28.18 CACNA1I 0 genome.wustl.edu 37 22 39966878 39966878 + Missense_Mutation SNP C C A TCGA-IN-AB1V-01A-21D-A410-08 TCGA-IN-AB1V-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9d53789-cc98-4016-92e3-e752dc6cd891 de7daf62-f9a3-46c3-9ef1-4ffa1578268c 22 39966878 39966878 C A SNP CACNA1I ENST00000336649 human ensembl 74_37 +1 known missense c.121 p.P41T 0.961 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1I HGNC ENSG00000100346 tier1 - - 96 0 0.00 49 13 20.97 CRYGA 0 genome.wustl.edu 37 2 209028015 209028015 + Silent SNP C C T TCGA-IN-AB1V-01A-21D-A410-08 TCGA-IN-AB1V-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9d53789-cc98-4016-92e3-e752dc6cd891 de7daf62-f9a3-46c3-9ef1-4ffa1578268c 2 209028015 209028015 C T SNP CRYGA ENST00000304502 human ensembl 74_37 -1 known silent c.165 p.Q55 1.000 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYGA HGNC ENSG00000168582 tier1 - - 68 0 0.00 46 7 13.21 CYTH1 0 genome.wustl.edu 37 17 76696475 76696475 + Missense_Mutation SNP C C T TCGA-IN-AB1V-01A-21D-A410-08 TCGA-IN-AB1V-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9d53789-cc98-4016-92e3-e752dc6cd891 de7daf62-f9a3-46c3-9ef1-4ffa1578268c 17 76696475 76696475 C T SNP CYTH1 ENST00000361101 human ensembl 74_37 -1 known missense c.488 p.R163Q 1.000 pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,pfscan_Sec7_dom pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom - no_errors CYTH1 HGNC ENSG00000108669 tier1 - - 26 0 0.00 23 4 14.81 DNAJB1 0 genome.wustl.edu 37 19 14627601 14627601 + Missense_Mutation SNP G G C TCGA-IN-AB1V-01A-21D-A410-08 TCGA-IN-AB1V-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9d53789-cc98-4016-92e3-e752dc6cd891 de7daf62-f9a3-46c3-9ef1-4ffa1578268c 19 14627601 14627601 G C SNP DNAJB1 ENST00000254322 human ensembl 74_37 -1 known missense c.469 p.R157G 0.003 NULL pfam_DnaJ_C,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_HSP40/DnaJ_pept-bd,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJB1 HGNC ENSG00000132002 tier1 - - 168 0 0.00 106 14 11.67 DPEP3 0 genome.wustl.edu 37 16 68014035 68014035 + Silent SNP G G A TCGA-IN-AB1V-01A-21D-A410-08 TCGA-IN-AB1V-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9d53789-cc98-4016-92e3-e752dc6cd891 de7daf62-f9a3-46c3-9ef1-4ffa1578268c 16 68014035 68014035 G A SNP DPEP3 ENST00000268793 human ensembl 74_37 -1 known silent c.324 p.R108 0.000 NULL pfam_Peptidase_M19 - no_errors DPEP3 HGNC ENSG00000141096 tier1 - - 146 0 0.00 88 17 16.19 EIF5 0 genome.wustl.edu 37 14 103802113 103802113 + RNA SNP A A T TCGA-IN-AB1V-01A-21D-A410-08 TCGA-IN-AB1V-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9d53789-cc98-4016-92e3-e752dc6cd891 de7daf62-f9a3-46c3-9ef1-4ffa1578268c 14 103802113 103802113 A T SNP EIF5 ENST00000560200 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors EIF5 HGNC ENSG00000100664 tier1 - - 68 0 0.00 36 9 20.00 EMID1 0 genome.wustl.edu 37 22 29654839 29654839 + Missense_Mutation SNP G G A TCGA-IN-AB1V-01A-21D-A410-08 TCGA-IN-AB1V-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9d53789-cc98-4016-92e3-e752dc6cd891 de7daf62-f9a3-46c3-9ef1-4ffa1578268c 22 29654839 29654839 G A SNP EMID1 ENST00000334018 human ensembl 74_37 +1 known missense c.1238 p.G413D 0.976 NULL pfam_Collagen,pfam_EMI_domain,pfscan_EMI_domain - no_errors EMID1 HGNC ENSG00000186998 86 0 0.00 44 4 8.33 FXR2 0 genome.wustl.edu 37 17 7495631 7495631 + Missense_Mutation SNP G G A TCGA-IN-AB1V-01A-21D-A410-08 TCGA-IN-AB1V-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9d53789-cc98-4016-92e3-e752dc6cd891 de7daf62-f9a3-46c3-9ef1-4ffa1578268c 17 7495631 7495631 G A SNP FXR2 ENST00000250113 human ensembl 74_37 -1 known missense c.1867 p.R623C 1.000 NULL pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet-like_dom,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FXR2 HGNC ENSG00000129245 tier1 - - 177 0 0.00 95 25 20.83 GAB2 0 genome.wustl.edu 37 11 77961262 77961262 + Silent SNP G G A TCGA-IN-AB1V-01A-21D-A410-08 TCGA-IN-AB1V-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9d53789-cc98-4016-92e3-e752dc6cd891 de7daf62-f9a3-46c3-9ef1-4ffa1578268c 11 77961262 77961262 G A SNP GAB2 ENST00000361507 human ensembl 74_37 -1 known silent c.561 p.S187 0.973 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors GAB2 HGNC ENSG00000033327 tier1 - - 241 0 0.00 139 38 21.47 GABRA4 0 genome.wustl.edu 37 4 46995388 46995388 + Silent SNP G G A TCGA-IN-AB1V-01A-21D-A410-08 TCGA-IN-AB1V-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9d53789-cc98-4016-92e3-e752dc6cd891 de7daf62-f9a3-46c3-9ef1-4ffa1578268c 4 46995388 46995388 G A SNP GABRA4 ENST00000264318 human ensembl 74_37 -1 known silent c.54 p.F18 1.000 NULL pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABBAa4_rcpt,prints_GABAA_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA4 HGNC ENSG00000109158 tier1 - - 149 0 0.00 102 22 17.74 GABRB1 0 genome.wustl.edu 37 4 47405725 47405725 + Silent SNP C C T TCGA-IN-AB1V-01A-21D-A410-08 TCGA-IN-AB1V-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9d53789-cc98-4016-92e3-e752dc6cd891 de7daf62-f9a3-46c3-9ef1-4ffa1578268c 4 47405725 47405725 C T SNP GABRB1 ENST00000295454 human ensembl 74_37 +1 known silent c.832 p.L278 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRB1 HGNC ENSG00000163288 tier1 - - 153 0 0.00 72 14 16.28 GGCX 0 genome.wustl.edu 37 2 85777204 85777204 + Silent SNP A A T TCGA-IN-AB1V-01A-21D-A410-08 TCGA-IN-AB1V-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9d53789-cc98-4016-92e3-e752dc6cd891 de7daf62-f9a3-46c3-9ef1-4ffa1578268c 2 85777204 85777204 A T SNP GGCX ENST00000233838 human ensembl 74_37 -1 known silent c.2130 p.R710 0.213 NULL pfam_VKG_COase,superfamily_RmlC_Cupin,smart_HTTM - no_errors GGCX HGNC ENSG00000115486 81 0 0.00 49 4 7.55 GRM7 0 genome.wustl.edu 37 3 6903133 6903133 + Missense_Mutation SNP G G A TCGA-IN-AB1V-01A-21D-A410-08 TCGA-IN-AB1V-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9d53789-cc98-4016-92e3-e752dc6cd891 de7daf62-f9a3-46c3-9ef1-4ffa1578268c 3 6903133 6903133 G A SNP GRM7 ENST00000402647 human ensembl 74_37 +1 known missense c.58 p.V20M 1.000 prints_GPCR_3_mtglu_rcpt_7 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_7,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM7 HGNC ENSG00000196277 tier1 - - 20 0 0.00 9 5 35.71 HIST1H1B 0 genome.wustl.edu 37 6 27835239 27835241 + In_Frame_Del DEL CTT CTT - TCGA-IN-AB1V-01A-21D-A410-08 TCGA-IN-AB1V-10A-01D-A413-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9d53789-cc98-4016-92e3-e752dc6cd891 de7daf62-f9a3-46c3-9ef1-4ffa1578268c 6 27835239 27835241 CTT - DEL HIST1H1B ENST00000331442 human ensembl 74_37 -1 known in_frame_del c.69_67 p.K23in_frame_del 0.386:1.000:1.000 NULL pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 - no_errors HIST1H1B HGNC ENSG00000184357 tier1 94 0 0.00 65 17 20.73 INHBB 0 genome.wustl.edu 37 2 121107004 121107004 + Missense_Mutation SNP G G A TCGA-IN-AB1V-01A-21D-A410-08 TCGA-IN-AB1V-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9d53789-cc98-4016-92e3-e752dc6cd891 de7daf62-f9a3-46c3-9ef1-4ffa1578268c 2 121107004 121107004 G A SNP INHBB ENST00000295228 human ensembl 74_37 +1 known missense c.778 p.V260M 1.000 pfam_TGF-b_N pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaB,prints_Inhibin_asu - no_errors INHBB HGNC ENSG00000163083 tier1 - - 137 0 0.00 66 15 18.52 INTS4 0 genome.wustl.edu 37 11 77602877 77602877 + Silent SNP G G T TCGA-IN-AB1V-01A-21D-A410-08 TCGA-IN-AB1V-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9d53789-cc98-4016-92e3-e752dc6cd891 de7daf62-f9a3-46c3-9ef1-4ffa1578268c 11 77602877 77602877 G T SNP INTS4 ENST00000534064 human ensembl 74_37 -1 known silent c.2298 p.I766 0.076 NULL pfam_HEAT,superfamily_ARM-type_fold - no_errors INTS4 HGNC ENSG00000149262 tier1 - - 113 0 0.00 63 9 12.50 ITGB7 0 genome.wustl.edu 37 12 53586947 53586947 + Missense_Mutation SNP C C T TCGA-IN-AB1V-01A-21D-A410-08 TCGA-IN-AB1V-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9d53789-cc98-4016-92e3-e752dc6cd891 de7daf62-f9a3-46c3-9ef1-4ffa1578268c 12 53586947 53586947 C T SNP ITGB7 ENST00000267082 human ensembl 74_37 -1 known missense c.1703 p.R568Q 0.991 pirsf_Integrin_bsu pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt_dom,pfam_EGF_extracell,superfamily_Plexin-like_fold,superfamily_Integrin_bsu_tail,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB7 HGNC ENSG00000139626 tier1 - - 33 0 0.00 24 7 22.58 JAKMIP1 0 genome.wustl.edu 37 4 6082025 6082025 + Silent SNP T T A TCGA-IN-AB1V-01A-21D-A410-08 TCGA-IN-AB1V-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9d53789-cc98-4016-92e3-e752dc6cd891 de7daf62-f9a3-46c3-9ef1-4ffa1578268c 4 6082025 6082025 T A SNP JAKMIP1 ENST00000409021 human ensembl 74_37 -1 known silent c.1116 p.S372 0.001 NULL NULL - no_errors JAKMIP1 HGNC ENSG00000152969 50 0 0.00 37 4 9.76 KIAA1549 0 genome.wustl.edu 37 7 138566162 138566162 + Missense_Mutation SNP G G C TCGA-IN-AB1V-01A-21D-A410-08 TCGA-IN-AB1V-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9d53789-cc98-4016-92e3-e752dc6cd891 de7daf62-f9a3-46c3-9ef1-4ffa1578268c 7 138566162 138566162 G C SNP KIAA1549 ENST00000422774 human ensembl 74_37 -1 known missense c.4201 p.P1401A 0.856 NULL NULL - no_errors KIAA1549 HGNC ENSG00000122778 tier1 - - 118 0 0.00 55 19 25.68 KIF2B 0 genome.wustl.edu 37 17 51902066 51902066 + Missense_Mutation SNP G G A TCGA-IN-AB1V-01A-21D-A410-08 TCGA-IN-AB1V-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9d53789-cc98-4016-92e3-e752dc6cd891 de7daf62-f9a3-46c3-9ef1-4ffa1578268c 17 51902066 51902066 G A SNP KIF2B ENST00000268919 human ensembl 74_37 +1 known missense c.1672 p.G558R 0.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF2B HGNC ENSG00000141200 tier1 - - 151 0 0.00 99 36 26.67 KLHL23 0 genome.wustl.edu 37 2 170606068 170606068 + Silent SNP C C T TCGA-IN-AB1V-01A-21D-A410-08 TCGA-IN-AB1V-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9d53789-cc98-4016-92e3-e752dc6cd891 de7daf62-f9a3-46c3-9ef1-4ffa1578268c 2 170606068 170606068 C T SNP KLHL23 ENST00000272797 human ensembl 74_37 +1 known silent c.1503 p.C501 0.999 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL23 HGNC ENSG00000213160 tier1 - - 110 0 0.00 68 20 22.47 KRT14 0 genome.wustl.edu 37 17 39742686 39742686 + Missense_Mutation SNP C C T TCGA-IN-AB1V-01A-21D-A410-08 TCGA-IN-AB1V-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9d53789-cc98-4016-92e3-e752dc6cd891 de7daf62-f9a3-46c3-9ef1-4ffa1578268c 17 39742686 39742686 C T SNP KRT14 ENST00000167586 human ensembl 74_37 -1 known missense c.401 p.R134H 0.891 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT14 HGNC ENSG00000186847 tier1 - - 222 0 0.00 157 26 14.21 LMO7 0 genome.wustl.edu 37 13 76408361 76408361 + Splice_Site SNP G G A TCGA-IN-AB1V-01A-21D-A410-08 TCGA-IN-AB1V-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9d53789-cc98-4016-92e3-e752dc6cd891 de7daf62-f9a3-46c3-9ef1-4ffa1578268c 13 76408361 76408361 G A SNP LMO7 ENST00000357063 human ensembl 74_37 +1 known splice_site c.3221-1 e18-1 1.000 - - - no_errors LMO7 HGNC ENSG00000136153 tier1 - - 112 0 0.00 88 8 8.33 LTF 0 genome.wustl.edu 37 3 46497788 46497788 + Missense_Mutation SNP G G T TCGA-IN-AB1V-01A-21D-A410-08 TCGA-IN-AB1V-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9d53789-cc98-4016-92e3-e752dc6cd891 de7daf62-f9a3-46c3-9ef1-4ffa1578268c 3 46497788 46497788 G T SNP LTF ENST00000231751 human ensembl 74_37 -1 known missense c.308 p.T103N 0.040 pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam - no_errors LTF HGNC ENSG00000012223 tier1 - - 74 0 0.00 49 10 16.95 MAGI2 0 genome.wustl.edu 37 7 77998505 77998505 + Silent SNP G G A TCGA-IN-AB1V-01A-21D-A410-08 TCGA-IN-AB1V-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9d53789-cc98-4016-92e3-e752dc6cd891 de7daf62-f9a3-46c3-9ef1-4ffa1578268c 7 77998505 77998505 G A SNP MAGI2 ENST00000354212 human ensembl 74_37 -1 known silent c.1071 p.I357 1.000 pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like - no_errors MAGI2 HGNC ENSG00000187391 tier1 - - 188 0 0.00 93 17 15.45 MUC5AC 0 genome.wustl.edu 37 11 1221128 1221128 + RNA SNP G G A TCGA-IN-AB1V-01A-21D-A410-08 TCGA-IN-AB1V-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9d53789-cc98-4016-92e3-e752dc6cd891 de7daf62-f9a3-46c3-9ef1-4ffa1578268c 11 1221128 1221128 G A SNP MUC5AC ENST00000358378 human ensembl 74_37 +1 putative rna NULL NULL 0.002 - - - no_errors MUC5AC HGNC ENSG00000215182 tier1 - - 42 0 0.00 12 4 23.53 MUC6 0 genome.wustl.edu 37 11 1016004 1016006 + In_Frame_Del DEL GAG GAG - TCGA-IN-AB1V-01A-21D-A410-08 TCGA-IN-AB1V-10A-01D-A413-08 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9d53789-cc98-4016-92e3-e752dc6cd891 de7daf62-f9a3-46c3-9ef1-4ffa1578268c 11 1016004 1016006 GAG - DEL MUC6 ENST00000421673 human ensembl 74_37 -1 known in_frame_del c.6797_6795 p.S2266in_frame_del 0.309:0.309:0.295 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors MUC6 HGNC ENSG00000184956 tier1 340 0 0.00 164 32 16.33 MUC6 0 genome.wustl.edu 37 11 1033061 1033061 + Missense_Mutation SNP A A T TCGA-IN-AB1V-01A-21D-A410-08 TCGA-IN-AB1V-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9d53789-cc98-4016-92e3-e752dc6cd891 de7daf62-f9a3-46c3-9ef1-4ffa1578268c 11 1033061 1033061 A T SNP MUC6 ENST00000421673 human ensembl 74_37 -1 known missense c.67 p.S23T 0.003 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors MUC6 HGNC ENSG00000184956 tier1 - - 141 0 0.00 81 9 10.00 OCIAD1 0 genome.wustl.edu 37 4 48851986 48851986 + Silent SNP T T C TCGA-IN-AB1V-01A-21D-A410-08 TCGA-IN-AB1V-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9d53789-cc98-4016-92e3-e752dc6cd891 de7daf62-f9a3-46c3-9ef1-4ffa1578268c 4 48851986 48851986 T C SNP OCIAD1 ENST00000264312 human ensembl 74_37 +1 known silent c.264 p.F88 1.000 pfam_OCIA pfam_OCIA - no_errors OCIAD1 HGNC ENSG00000109180 tier1 - - 122 0 0.00 73 16 17.98 OR2T33 0 genome.wustl.edu 37 1 248437000 248437000 + Silent SNP G G T TCGA-IN-AB1V-01A-21D-A410-08 TCGA-IN-AB1V-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9d53789-cc98-4016-92e3-e752dc6cd891 de7daf62-f9a3-46c3-9ef1-4ffa1578268c 1 248437000 248437000 G T SNP OR2T33 ENST00000318021 human ensembl 74_37 -1 known silent c.117 p.G39 0.381 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 OR2T33 HGNC ENSG00000177212 tier1 - - 88 0 0.00 34 23 40.35 OR4K13 0 genome.wustl.edu 37 14 20502653 20502653 + Missense_Mutation SNP G G A TCGA-IN-AB1V-01A-21D-A410-08 TCGA-IN-AB1V-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9d53789-cc98-4016-92e3-e752dc6cd891 de7daf62-f9a3-46c3-9ef1-4ffa1578268c 14 20502653 20502653 G A SNP OR4K13 ENST00000315693 human ensembl 74_37 -1 known missense c.265 p.R89C 0.001 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4K13 HGNC ENSG00000176253 tier1 rs149397731 - 69 0 0.00 48 9 15.79 OR8H3 0 genome.wustl.edu 37 11 55890027 55890027 + Missense_Mutation SNP T T A TCGA-IN-AB1V-01A-21D-A410-08 TCGA-IN-AB1V-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9d53789-cc98-4016-92e3-e752dc6cd891 de7daf62-f9a3-46c3-9ef1-4ffa1578268c 11 55890027 55890027 T A SNP OR8H3 ENST00000313472 human ensembl 74_37 +1 known missense c.179 p.M60K 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8H3 HGNC ENSG00000181761 tier1 - - 464 0 0.00 318 51 13.82 PAPPA 0 genome.wustl.edu 37 9 119094640 119094640 + Missense_Mutation SNP C C T TCGA-IN-AB1V-01A-21D-A410-08 TCGA-IN-AB1V-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9d53789-cc98-4016-92e3-e752dc6cd891 de7daf62-f9a3-46c3-9ef1-4ffa1578268c 9 119094640 119094640 C T SNP PAPPA ENST00000328252 human ensembl 74_37 +1 known missense c.3290 p.A1097V 0.990 NULL pfam_Sushi_SCR_CCP,pfam_Notch_dom,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA HGNC ENSG00000182752 tier1 - - 119 0 0.00 60 18 23.08 PCDH10 0 genome.wustl.edu 37 4 134073569 134073571 + In_Frame_Del DEL CTG CTG - TCGA-IN-AB1V-01A-21D-A410-08 TCGA-IN-AB1V-10A-01D-A413-08 CTG CTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9d53789-cc98-4016-92e3-e752dc6cd891 de7daf62-f9a3-46c3-9ef1-4ffa1578268c 4 134073569 134073571 CTG - DEL PCDH10 ENST00000264360 human ensembl 74_37 +1 known in_frame_del c.2274_2276 p.C762in_frame_del 0.999:1.000:1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 tier1 41 0 0.00 40 5 11.11 PCDHB4 0 genome.wustl.edu 37 5 140501614 140501614 + Missense_Mutation SNP C C A TCGA-IN-AB1V-01A-21D-A410-08 TCGA-IN-AB1V-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9d53789-cc98-4016-92e3-e752dc6cd891 de7daf62-f9a3-46c3-9ef1-4ffa1578268c 5 140501614 140501614 C A SNP PCDHB4 ENST00000194152 human ensembl 74_37 +1 known missense c.34 p.Q12K 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB4 HGNC ENSG00000081818 tier1 - - 59 0 0.00 41 11 21.15 PLK3 0 genome.wustl.edu 37 1 45268798 45268798 + Missense_Mutation SNP G G T TCGA-IN-AB1V-01A-21D-A410-08 TCGA-IN-AB1V-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9d53789-cc98-4016-92e3-e752dc6cd891 de7daf62-f9a3-46c3-9ef1-4ffa1578268c 1 45268798 45268798 G T SNP PLK3 ENST00000372201 human ensembl 74_37 +1 known missense c.921 p.Q307H 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_POLO_box_duplicated_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_dom - no_errors PLK3 HGNC ENSG00000173846 tier1 - - 94 0 0.00 49 12 19.67 POLN 0 genome.wustl.edu 37 4 2172897 2172897 + Missense_Mutation SNP C C A TCGA-IN-AB1V-01A-21D-A410-08 TCGA-IN-AB1V-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9d53789-cc98-4016-92e3-e752dc6cd891 de7daf62-f9a3-46c3-9ef1-4ffa1578268c 4 2172897 2172897 C A SNP POLN ENST00000382865 human ensembl 74_37 -1 known missense c.1386 p.K462N 1.000 pfam_DNA-dir_DNA_pol_A_palm_dom pfam_DNA-dir_DNA_pol_A_palm_dom,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_A_palm_dom,prints_DNA_polymerase_A - no_errors POLN HGNC ENSG00000130997 tier1 - - 167 0 0.00 82 18 18.00 POM121C 0 genome.wustl.edu 37 7 75052198 75052198 + Missense_Mutation SNP G G T TCGA-IN-AB1V-01A-21D-A410-08 TCGA-IN-AB1V-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9d53789-cc98-4016-92e3-e752dc6cd891 de7daf62-f9a3-46c3-9ef1-4ffa1578268c 7 75052198 75052198 G T SNP POM121C ENST00000257665 human ensembl 74_37 -1 known missense c.2063 p.T688N 0.040 NULL NULL - no_errors POM121C HGNC ENSG00000135213 tier1 - - 51 0 0.00 16 6 27.27 POM121L12 0 genome.wustl.edu 37 7 53103786 53103786 + Missense_Mutation SNP T T A TCGA-IN-AB1V-01A-21D-A410-08 TCGA-IN-AB1V-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9d53789-cc98-4016-92e3-e752dc6cd891 de7daf62-f9a3-46c3-9ef1-4ffa1578268c 7 53103786 53103786 T A SNP POM121L12 ENST00000408890 human ensembl 74_37 +1 known missense c.422 p.I141N 0.007 NULL NULL - no_errors POM121L12 HGNC ENSG00000221900 tier1 - - 38 0 0.00 24 7 22.58 POTEC 0 genome.wustl.edu 37 18 14537968 14537968 + Silent SNP T T C TCGA-IN-AB1V-01A-21D-A410-08 TCGA-IN-AB1V-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9d53789-cc98-4016-92e3-e752dc6cd891 de7daf62-f9a3-46c3-9ef1-4ffa1578268c 18 14537968 14537968 T C SNP POTEC ENST00000358970 human ensembl 74_37 -1 known silent c.642 p.V214 0.996 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTEC HGNC ENSG00000183206 tier1 - - 186 0 0.00 90 20 18.18 PTCH2 0 genome.wustl.edu 37 1 45295610 45295610 + Missense_Mutation SNP C C G TCGA-IN-AB1V-01A-21D-A410-08 TCGA-IN-AB1V-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9d53789-cc98-4016-92e3-e752dc6cd891 de7daf62-f9a3-46c3-9ef1-4ffa1578268c 1 45295610 45295610 C G SNP PTCH2 ENST00000372192 human ensembl 74_37 -1 known missense c.906 p.M302I 0.002 tigrfam_TM_rcpt_patched pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH2 HGNC ENSG00000117425 tier1 - - 46 0 0.00 25 11 30.56 PTPRB 0 genome.wustl.edu 37 12 70989988 70989988 + Missense_Mutation SNP C C T TCGA-IN-AB1V-01A-21D-A410-08 TCGA-IN-AB1V-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9d53789-cc98-4016-92e3-e752dc6cd891 de7daf62-f9a3-46c3-9ef1-4ffa1578268c 12 70989988 70989988 C T SNP PTPRB ENST00000334414 human ensembl 74_37 -1 known missense c.1099 p.E367K 0.862 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRB HGNC ENSG00000127329 tier1 - - 105 0 0.00 65 41 38.68 PTPRB 0 genome.wustl.edu 37 12 70990049 70990049 + Silent SNP C C T TCGA-IN-AB1V-01A-21D-A410-08 TCGA-IN-AB1V-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9d53789-cc98-4016-92e3-e752dc6cd891 de7daf62-f9a3-46c3-9ef1-4ffa1578268c 12 70990049 70990049 C T SNP PTPRB ENST00000334414 human ensembl 74_37 -1 known silent c.1038 p.L346 0.940 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRB HGNC ENSG00000127329 tier1 - - 39 0 0.00 20 22 52.38 PTPRB 0 genome.wustl.edu 37 12 70990070 70990070 + Silent SNP C C T TCGA-IN-AB1V-01A-21D-A410-08 TCGA-IN-AB1V-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9d53789-cc98-4016-92e3-e752dc6cd891 de7daf62-f9a3-46c3-9ef1-4ffa1578268c 12 70990070 70990070 C T SNP PTPRB ENST00000334414 human ensembl 74_37 -1 known silent c.1017 p.E339 0.451 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRB HGNC ENSG00000127329 22 0 0.00 20 18 47.37 RBM24 0 genome.wustl.edu 37 6 17292448 17292449 + RNA INS - - AA TCGA-IN-AB1V-01A-21D-A410-08 TCGA-IN-AB1V-10A-01D-A413-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9d53789-cc98-4016-92e3-e752dc6cd891 de7daf62-f9a3-46c3-9ef1-4ffa1578268c 6 17292448 17292449 - AA INS RBM24 ENST00000504055 human ensembl 74_37 +1 known rna NULL NULL 0.997:0.915 - - - no_errors RBM24 HGNC ENSG00000112183 tier1 36 0 0.00 25 5 16.67 SLC25A45 0 genome.wustl.edu 37 11 65144356 65144356 + Silent SNP C C T TCGA-IN-AB1V-01A-21D-A410-08 TCGA-IN-AB1V-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9d53789-cc98-4016-92e3-e752dc6cd891 de7daf62-f9a3-46c3-9ef1-4ffa1578268c 11 65144356 65144356 C T SNP SLC25A45 ENST00000398802 human ensembl 74_37 -1 known silent c.531 p.T177 0.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A45 HGNC ENSG00000162241 tier1 - - 219 0 0.00 125 24 16.00 SLC6A3 0 genome.wustl.edu 37 5 1406321 1406321 + Silent SNP G G A TCGA-IN-AB1V-01A-21D-A410-08 TCGA-IN-AB1V-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9d53789-cc98-4016-92e3-e752dc6cd891 de7daf62-f9a3-46c3-9ef1-4ffa1578268c 5 1406321 1406321 G A SNP SLC6A3 ENST00000270349 human ensembl 74_37 -1 known silent c.1581 p.V527 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_dopamine - no_errors SLC6A3 HGNC ENSG00000142319 tier1 - - 158 0 0.00 91 17 15.60 SMG1 0 genome.wustl.edu 37 16 18853076 18853076 + Silent SNP G G A TCGA-IN-AB1V-01A-21D-A410-08 TCGA-IN-AB1V-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9d53789-cc98-4016-92e3-e752dc6cd891 de7daf62-f9a3-46c3-9ef1-4ffa1578268c 16 18853076 18853076 G A SNP SMG1 ENST00000389467 human ensembl 74_37 -1 known silent c.6507 p.F2169 0.994 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors SMG1 HGNC ENSG00000157106 tier1 - - 305 0 0.00 202 28 12.17 SP8 0 genome.wustl.edu 37 7 20824941 20824943 + In_Frame_Del DEL GCC GCC - TCGA-IN-AB1V-01A-21D-A410-08 TCGA-IN-AB1V-10A-01D-A413-08 GCC GCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9d53789-cc98-4016-92e3-e752dc6cd891 de7daf62-f9a3-46c3-9ef1-4ffa1578268c 7 20824941 20824943 GCC - DEL SP8 ENST00000418710 human ensembl 74_37 -1 known in_frame_del c.495_493 p.G165in_frame_del 0.025:0.971:0.997 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2,prints_Antifreeze_1 - no_errors SP8 HGNC ENSG00000164651 tier1 8 0 0.00 2 5 71.43 SPRED1 0 genome.wustl.edu 37 15 38643535 38643535 + Silent SNP C C T TCGA-IN-AB1V-01A-21D-A410-08 TCGA-IN-AB1V-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9d53789-cc98-4016-92e3-e752dc6cd891 de7daf62-f9a3-46c3-9ef1-4ffa1578268c 15 38643535 38643535 C T SNP SPRED1 ENST00000299084 human ensembl 74_37 +1 known silent c.1005 p.C335 1.000 pfam_Sprouty pfam_Sprouty,pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1 - no_errors SPRED1 HGNC ENSG00000166068 tier1 - - 127 0 0.00 95 24 20.17 SSPO 0 genome.wustl.edu 37 7 149519712 149519712 + RNA DEL C C - TCGA-IN-AB1V-01A-21D-A410-08 TCGA-IN-AB1V-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9d53789-cc98-4016-92e3-e752dc6cd891 de7daf62-f9a3-46c3-9ef1-4ffa1578268c 7 149519712 149519712 C - DEL SSPO ENST00000378016 human ensembl 74_37 +1 known rna NULL NULL 0.176 - - - no_errors SSPO HGNC ENSG00000197558 tier1 27 0 0.00 9 2 18.18 TGFBI 0 genome.wustl.edu 37 5 135394905 135394906 + Splice_Site INS - - A TCGA-IN-AB1V-01A-21D-A410-08 TCGA-IN-AB1V-10A-01D-A413-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9d53789-cc98-4016-92e3-e752dc6cd891 de7daf62-f9a3-46c3-9ef1-4ffa1578268c 5 135394905 135394906 - A INS TGFBI ENST00000305126 human ensembl 74_37 +1 known splice_site_ins c.1803+2_1803+1 e13+2 1.000:0.997 - - - no_errors TGFBI HGNC ENSG00000120708 tier1 30 0 0.00 10 8 44.44 TGFBRAP1 0 genome.wustl.edu 37 2 105924736 105924736 + Missense_Mutation SNP G G A TCGA-IN-AB1V-01A-21D-A410-08 TCGA-IN-AB1V-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9d53789-cc98-4016-92e3-e752dc6cd891 de7daf62-f9a3-46c3-9ef1-4ffa1578268c 2 105924736 105924736 G A SNP TGFBRAP1 ENST00000258449 human ensembl 74_37 -1 known missense c.23 p.T8M 0.922 NULL pfam_VPS39/TGF_beta_rcpt-assoc_2,pfam_VPS39/TGF_beta_rcpt-assoc_1,pfam_Clathrin_H-chain/VPS_repeat,pfam_Citron - no_errors TGFBRAP1 HGNC ENSG00000135966 tier1 rs141519266 - 40 0 0.00 28 4 12.50 THAP3 0 genome.wustl.edu 37 1 6685326 6685326 + Frame_Shift_Del DEL C C - TCGA-IN-AB1V-01A-21D-A410-08 TCGA-IN-AB1V-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9d53789-cc98-4016-92e3-e752dc6cd891 de7daf62-f9a3-46c3-9ef1-4ffa1578268c 1 6685326 6685326 C - DEL THAP3 ENST00000054650 human ensembl 74_37 +1 known frame_shift_del c.48 p.R17fs 0.973 pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP3 HGNC ENSG00000041988 tier1 18 0 0.00 2 2 50.00 TJP1 0 genome.wustl.edu 37 15 30029527 30029527 + Missense_Mutation SNP C C T TCGA-IN-AB1V-01A-21D-A410-08 TCGA-IN-AB1V-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9d53789-cc98-4016-92e3-e752dc6cd891 de7daf62-f9a3-46c3-9ef1-4ffa1578268c 15 30029527 30029527 C T SNP TJP1 ENST00000346128 human ensembl 74_37 -1 known missense c.1348 p.V450I 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_ZU5,pfam_GK/Ca_channel_bsu,pfam_SH3_2,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_PDZ,smart_GK/Ca_channel_bsu,smart_ZU5,pfscan_PDZ,pfscan_SH3_domain,pfscan_ZU5,pfscan_Guanylate_kin-like,prints_ZonOcculS1,prints_ZonOcculdens - no_errors TJP1 HGNC ENSG00000104067 tier1 - - 187 0 0.00 131 21 13.82 TMC1 0 genome.wustl.edu 37 9 75303654 75303654 + Missense_Mutation SNP G G A TCGA-IN-AB1V-01A-21D-A410-08 TCGA-IN-AB1V-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9d53789-cc98-4016-92e3-e752dc6cd891 de7daf62-f9a3-46c3-9ef1-4ffa1578268c 9 75303654 75303654 G A SNP TMC1 ENST00000297784 human ensembl 74_37 +1 known missense c.46 p.E16K 0.383 NULL pfam_TMC - no_errors TMC1 HGNC ENSG00000165091 tier1 rs140437301 - 47 0 0.00 32 5 13.51 TMC2 0 genome.wustl.edu 37 20 2621849 2621849 + Missense_Mutation SNP A A G TCGA-IN-AB1V-01A-21D-A410-08 TCGA-IN-AB1V-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9d53789-cc98-4016-92e3-e752dc6cd891 de7daf62-f9a3-46c3-9ef1-4ffa1578268c 20 2621849 2621849 A G SNP TMC2 ENST00000358864 human ensembl 74_37 +1 known missense c.2573 p.N858S 0.011 NULL pfam_TMC - no_errors TMC2 HGNC ENSG00000149488 tier1 - - 114 0 0.00 79 28 26.17 TNFRSF21 0 genome.wustl.edu 37 6 47221027 47221027 + Missense_Mutation SNP C C T TCGA-IN-AB1V-01A-21D-A410-08 TCGA-IN-AB1V-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9d53789-cc98-4016-92e3-e752dc6cd891 de7daf62-f9a3-46c3-9ef1-4ffa1578268c 6 47221027 47221027 C T SNP TNFRSF21 ENST00000296861 human ensembl 74_37 -1 known missense c.1474 p.E492K 1.000 pfam_Death_domain,superfamily_DEATH-like_dom,smart_Death_domain,pfscan_Death_domain pfam_Death_domain,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,pfscan_Death_domain,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_21 - no_errors TNFRSF21 HGNC ENSG00000146072 tier1 - - 42 0 0.00 25 14 35.90 TRPA1 0 genome.wustl.edu 37 8 72969979 72969979 + Missense_Mutation SNP T T G TCGA-IN-AB1V-01A-21D-A410-08 TCGA-IN-AB1V-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9d53789-cc98-4016-92e3-e752dc6cd891 de7daf62-f9a3-46c3-9ef1-4ffa1578268c 8 72969979 72969979 T G SNP TRPA1 ENST00000262209 human ensembl 74_37 -1 known missense c.1066 p.N356H 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors TRPA1 HGNC ENSG00000104321 tier1 - - 112 0 0.00 57 12 17.39 TSHR 0 genome.wustl.edu 37 14 81610420 81610420 + Missense_Mutation SNP C C A TCGA-IN-AB1V-01A-21D-A410-08 TCGA-IN-AB1V-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9d53789-cc98-4016-92e3-e752dc6cd891 de7daf62-f9a3-46c3-9ef1-4ffa1578268c 14 81610420 81610420 C A SNP TSHR ENST00000298171 human ensembl 74_37 +1 known missense c.2018 p.A673D 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_TSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_FSH_rcpt,prints_LSH_rcpt - no_errors TSHR HGNC ENSG00000165409 tier1 - - 185 0 0.00 112 13 10.32 TXLNB 0 genome.wustl.edu 37 6 139609680 139609680 + Silent SNP T T C TCGA-IN-AB1V-01A-21D-A410-08 TCGA-IN-AB1V-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9d53789-cc98-4016-92e3-e752dc6cd891 de7daf62-f9a3-46c3-9ef1-4ffa1578268c 6 139609680 139609680 T C SNP TXLNB ENST00000358430 human ensembl 74_37 -1 known silent c.357 p.P119 0.002 NULL pfam_Taxilin_fam - no_errors TXLNB HGNC ENSG00000164440 tier1 - - 281 0 0.00 244 20 7.58 TXNDC16 0 genome.wustl.edu 37 14 52937269 52937269 + Missense_Mutation SNP C C T TCGA-IN-AB1V-01A-21D-A410-08 TCGA-IN-AB1V-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9d53789-cc98-4016-92e3-e752dc6cd891 de7daf62-f9a3-46c3-9ef1-4ffa1578268c 14 52937269 52937269 C T SNP TXNDC16 ENST00000281741 human ensembl 74_37 -1 known missense c.1442 p.G481E 1.000 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TXNDC16 HGNC ENSG00000087301 tier1 - - 202 0 0.00 109 29 20.86 UBR5 0 genome.wustl.edu 37 8 103326078 103326078 + Missense_Mutation SNP C C T TCGA-IN-AB1V-01A-21D-A410-08 TCGA-IN-AB1V-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9d53789-cc98-4016-92e3-e752dc6cd891 de7daf62-f9a3-46c3-9ef1-4ffa1578268c 8 103326078 103326078 C T SNP UBR5 ENST00000520539 human ensembl 74_37 -1 known missense c.1961 p.R654Q 1.000 NULL pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_RCC1/BLIP-II,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin - no_errors UBR5 HGNC ENSG00000104517 tier1 - - 157 0 0.00 86 16 15.69 USP28 0 genome.wustl.edu 37 11 113679074 113679074 + Missense_Mutation SNP A A C TCGA-IN-AB1V-01A-21D-A410-08 TCGA-IN-AB1V-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9d53789-cc98-4016-92e3-e752dc6cd891 de7daf62-f9a3-46c3-9ef1-4ffa1578268c 11 113679074 113679074 A C SNP USP28 ENST00000003302 human ensembl 74_37 -1 known missense c.2250 p.I750M 0.997 NULL pfam_Peptidase_C19/C67,superfamily_UBA-like,pfscan_Peptidase_C19/C67 - no_errors USP28 HGNC ENSG00000048028 tier1 - - 217 0 0.00 134 34 20.12 WNT7A 0 genome.wustl.edu 37 3 13860467 13860467 + Missense_Mutation SNP G G A TCGA-IN-AB1V-01A-21D-A410-08 TCGA-IN-AB1V-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9d53789-cc98-4016-92e3-e752dc6cd891 de7daf62-f9a3-46c3-9ef1-4ffa1578268c 3 13860467 13860467 G A SNP WNT7A ENST00000285018 human ensembl 74_37 -1 known missense c.1024 p.R342C 1.000 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt7 - no_errors WNT7A HGNC ENSG00000154764 tier1 - - 58 0 0.00 24 6 20.00 XRRA1 0 genome.wustl.edu 37 11 74562162 74562162 + Missense_Mutation SNP C C T TCGA-IN-AB1V-01A-21D-A410-08 TCGA-IN-AB1V-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9d53789-cc98-4016-92e3-e752dc6cd891 de7daf62-f9a3-46c3-9ef1-4ffa1578268c 11 74562162 74562162 C T SNP XRRA1 ENST00000340360 human ensembl 74_37 -1 known missense c.1327 p.V443I 0.470 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors XRRA1 HGNC ENSG00000166435 tier1 - - 47 0 0.00 39 5 11.36 ZNF880 0 genome.wustl.edu 37 19 52877717 52877717 + Frame_Shift_Del DEL T T - TCGA-IN-AB1V-01A-21D-A410-08 TCGA-IN-AB1V-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9d53789-cc98-4016-92e3-e752dc6cd891 de7daf62-f9a3-46c3-9ef1-4ffa1578268c 19 52877717 52877717 T - DEL ZNF880 ENST00000597976 human ensembl 74_37 +1 putative frame_shift_del c.305 p.F105fs 0.091 NULL pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box - no_errors ZNF880 HGNC ENSG00000221923 tier1 15 0 0.00 12 3 20.00