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 ACADM 0 genome.wustl.edu 37 1 76226868 76226868 + Missense_Mutation SNP G G A TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 1 76226868 76226868 G A SNP ACADM ENST00000420607 human ensembl 74_37 +1 known missense c.1019 p.S340N 1.000 pfam_AcylCo_DH/oxidase_C,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCo_DH/oxidase_C pfam_AcylCo_DH/oxidase_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C - no_errors ACADM HGNC ENSG00000117054 tier1 - - 151 0 0.00 202 15 6.88 ACAN 0 genome.wustl.edu 37 15 89417157 89417157 + Missense_Mutation SNP G G T TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 15 89417157 89417157 G T SNP ACAN ENST00000439576 human ensembl 74_37 +1 known missense c.7418 p.R2473L 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,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_dom,prints_Link - no_errors ACAN HGNC ENSG00000157766 50 0 0.00 73 6 7.59 ANKS3 0 genome.wustl.edu 37 16 4748884 4748884 + Missense_Mutation SNP G G A TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 16 4748884 4748884 G A SNP ANKS3 ENST00000304283 human ensembl 74_37 -1 known missense c.1468 p.R490C 1.000 superfamily_SAM/pointed pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,prints_Ankyrin_rpt - no_errors ANKS3 HGNC ENSG00000168096 tier1 - - 57 0 0.00 77 9 10.47 ANO5 0 genome.wustl.edu 37 11 22257799 22257799 + Missense_Mutation SNP T T A TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 11 22257799 22257799 T A SNP ANO5 ENST00000324559 human ensembl 74_37 +1 known missense c.739 p.S247T 0.014 NULL pfam_Anoctamin - no_errors ANO5 HGNC ENSG00000171714 tier1 - - 89 0 0.00 102 14 11.97 APC 0 genome.wustl.edu 37 5 112157596 112157596 + Missense_Mutation SNP C C T TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 5 112157596 112157596 C T SNP APC ENST00000257430 human ensembl 74_37 +1 known missense c.1316 p.P439L 1.000 superfamily_ARM-type_fold pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 tier1 - - 81 0 0.00 111 14 11.20 APCDD1L 0 genome.wustl.edu 37 20 57042206 57042206 + Missense_Mutation SNP G G T TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 20 57042206 57042206 G T SNP APCDD1L ENST00000439429 human ensembl 74_37 -1 known missense c.730 p.H244N 0.996 NULL NULL - no_errors APCDD1L HGNC ENSG00000198768 tier1 - - 36 0 0.00 69 10 12.66 ASTN1 0 genome.wustl.edu 37 1 177001757 177001757 + Missense_Mutation SNP G G A TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 1 177001757 177001757 G A SNP ASTN1 ENST00000367654 human ensembl 74_37 -1 known missense c.700 p.R234W 1.000 NULL superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3 - no_errors ASTN1 HGNC ENSG00000152092 tier1 - - 74 0 0.00 91 7 7.14 BAI3 0 genome.wustl.edu 37 6 69653726 69653726 + Missense_Mutation SNP C C A TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 6 69653726 69653726 C A SNP BAI3 ENST00000370598 human ensembl 74_37 +1 known missense c.1035 p.H345Q 1.000 superfamily_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI3 HGNC ENSG00000135298 tier1 - - 127 0 0.00 156 13 7.69 BCL7A 0 genome.wustl.edu 37 12 122492799 122492799 + Silent SNP G G A TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 12 122492799 122492799 G A SNP BCL7A ENST00000538010 human ensembl 74_37 +1 known silent c.528 p.S176 0.016 NULL pfam_BCL7 - no_errors BCL7A HGNC ENSG00000110987 tier1 - - 113 0 0.00 183 11 5.64 C12orf54 0 genome.wustl.edu 37 12 48881831 48881831 + RNA SNP G G A TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 12 48881831 48881831 G A SNP C12orf54 ENST00000548913 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors C12orf54 HGNC ENSG00000177627 tier1 - - 39 0 0.00 39 4 9.30 C1orf173 0 genome.wustl.edu 37 1 75038610 75038610 + Silent SNP C C T TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 1 75038610 75038610 C T SNP C1orf173 ENST00000326665 human ensembl 74_37 -1 known silent c.2784 p.S928 0.000 NULL NULL - no_errors C1orf173 HGNC ENSG00000178965 tier1 - - 142 0 0.00 212 15 6.58 C20orf112 0 genome.wustl.edu 37 20 31062420 31062420 + Silent SNP G G A TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 20 31062420 31062420 G A SNP C20orf112 ENST00000359676 human ensembl 74_37 -1 known silent c.93 p.L31 1.000 NULL NULL - no_errors C20orf112 HGNC ENSG00000197183 tier1 - - 43 0 0.00 91 6 6.19 C22orf29 0 genome.wustl.edu 37 22 19839752 19839752 + Silent SNP A A T TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 22 19839752 19839752 A T SNP C22orf29 ENST00000328554 human ensembl 74_37 -1 known silent c.33 p.P11 0.512 NULL NULL - no_errors C22orf29 HGNC ENSG00000215012 tier1 - - 100 0 0.00 165 17 9.24 C6orf165 0 genome.wustl.edu 37 6 88125515 88125515 + Missense_Mutation SNP G G A TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 6 88125515 88125515 G A SNP C6orf165 ENST00000369562 human ensembl 74_37 +1 known missense c.395 p.R132Q 1.000 NULL pfam_DUF3508 - no_errors C6ORF165 Uniprot_gn ENSG00000272514 tier1 - - 94 0 0.00 144 12 7.69 CA4 0 genome.wustl.edu 37 17 58234043 58234043 + Missense_Mutation SNP C C A TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 17 58234043 58234043 C A SNP CA4 ENST00000300900 human ensembl 74_37 +1 known missense c.235 p.Q79K 0.002 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA4 HGNC ENSG00000167434 tier1 - - 64 0 0.00 100 8 7.41 CADM1 0 genome.wustl.edu 37 11 115111138 115111138 + Missense_Mutation SNP C C T TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 11 115111138 115111138 C T SNP CADM1 ENST00000452722 human ensembl 74_37 -1 known missense c.127 p.D43N 1.000 pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like_dom - no_errors CADM1 HGNC ENSG00000182985 tier1 - - 75 0 0.00 104 11 9.57 CASZ1 0 genome.wustl.edu 37 1 10707901 10707901 + Missense_Mutation SNP C C T TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 1 10707901 10707901 C T SNP CASZ1 ENST00000377022 human ensembl 74_37 -1 known missense c.3454 p.A1152T 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CASZ1 HGNC ENSG00000130940 tier1 - - 83 0 0.00 111 13 10.48 CD163 0 genome.wustl.edu 37 12 7639270 7639270 + Silent SNP G G T TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 12 7639270 7639270 G T SNP CD163 ENST00000359156 human ensembl 74_37 -1 known silent c.2283 p.G761 1.000 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_SRCR,pfscan_SRCR pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_SRCR,pfscan_SRCR - no_errors CD163 HGNC ENSG00000177575 tier1 - - 192 0 0.00 248 28 10.14 CD163 0 genome.wustl.edu 37 12 7639374 7639374 + Missense_Mutation SNP G G A TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 12 7639374 7639374 G A SNP CD163 ENST00000359156 human ensembl 74_37 -1 known missense c.2179 p.R727C 0.983 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_SRCR,pfscan_SRCR pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_SRCR,pfscan_SRCR - no_errors CD163 HGNC ENSG00000177575 tier1 - - 136 0 0.00 130 13 9.03 CHGB 0 genome.wustl.edu 37 20 5903729 5903729 + Missense_Mutation SNP G G T TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 20 5903729 5903729 G T SNP CHGB ENST00000378961 human ensembl 74_37 +1 known missense c.939 p.E313D 0.882 pfam_Granin pfam_Granin,prints_Chromogranin_AB - no_errors CHGB HGNC ENSG00000089199 tier1 - - 56 0 0.00 91 8 8.08 CHRNA9 0 genome.wustl.edu 37 4 40351378 40351381 + Frame_Shift_Del DEL TTCA TTCA - TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 TTCA TTCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 4 40351378 40351381 TTCA 0 DEL CHRNA9 ENST00000310169 human ensembl 74_37 +1 known frame_shift_del c.845_848 p.F282fs 1.000:1.000:1.000:1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA9 HGNC ENSG00000174343 184 0 0.00 255 14 5.20 CLASP2 0 genome.wustl.edu 37 3 33600816 33600816 + Nonsense_Mutation SNP G G A TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 3 33600816 33600816 G A SNP CLASP2 ENST00000399362 human ensembl 74_37 -1 known nonsense c.3013 p.Q1005* 1.000 superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors CLASP2 HGNC ENSG00000163539 13 0 0.00 25 4 13.79 CMTM5 0 genome.wustl.edu 37 14 23848306 23848306 + Silent SNP C C A TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 14 23848306 23848306 C A SNP CMTM5 ENST00000339180 human ensembl 74_37 +1 known silent c.547 p.R183 0.994 NULL NULL - no_errors CMTM5 HGNC ENSG00000166091 tier1 - - 68 0 0.00 84 6 6.67 COG8 0 genome.wustl.edu 37 16 69366683 69366683 + Missense_Mutation SNP G G A TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 16 69366683 69366683 G A SNP COG8 ENST00000306875 human ensembl 74_37 -1 known missense c.1516 p.L506F 1.000 pirsf_COG8_Metazoal_Plant pfam_COG8,superfamily_Cullin_repeat-like_dom,pirsf_COG8_Metazoal_Plant - no_errors COG8 HGNC ENSG00000213380 tier1 - - 107 0 0.00 135 11 7.48 CSMD1 0 genome.wustl.edu 37 8 2944798 2944798 + Missense_Mutation SNP C C A TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 8 2944798 2944798 C A SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.7298 p.C2433F 1.000 superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 tier1 - - 179 0 0.00 207 35 14.34 CSTF1 0 genome.wustl.edu 37 20 54972428 54972428 + Missense_Mutation SNP G G A TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 20 54972428 54972428 G A SNP CSTF1 ENST00000217109 human ensembl 74_37 +1 known missense c.335 p.R112H 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CSTF1 HGNC ENSG00000101138 tier1 - - 249 0 0.00 334 40 10.67 DENND3 0 genome.wustl.edu 37 8 142176444 142176444 + Missense_Mutation SNP C C T TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 8 142176444 142176444 C T SNP DENND3 ENST00000262585 human ensembl 74_37 +1 known missense c.1469 p.S490L 0.522 NULL pfam_DENN_dom,pfam_dDENN_dom,pfam_WD40_repeat,pfam_uDENN_dom,superfamily_WD40_repeat_dom,smart_DENN_dom,smart_dDENN_dom,smart_WD40_repeat,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_WD40_repeat_dom - no_errors DENND3 HGNC ENSG00000105339 tier1 - - 107 0 0.00 147 23 13.53 DGKK 0 genome.wustl.edu 37 X 50213279 50213279 + RNA SNP C C T TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 X 50213279 50213279 C T SNP DGKK ENST00000376025 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors DGKK HGNC ENSG00000204466 tier1 - - 55 0 0.00 68 16 19.05 DLD 0 genome.wustl.edu 37 7 107557908 107557908 + Splice_Site SNP G G A TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 7 107557908 107557908 G A SNP DLD ENST00000205402 human ensembl 74_37 +1 known splice_site c.1236+1 e11+1 1.000 - - - no_errors DLD HGNC ENSG00000091140 tier1 - - 95 0 0.00 144 13 8.28 DNAH2 0 genome.wustl.edu 37 17 7695607 7695607 + Missense_Mutation SNP G G A TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 17 7695607 7695607 G A SNP DNAH2 ENST00000389173 human ensembl 74_37 +1 known missense c.7091 p.R2364Q 0.391 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH2 HGNC ENSG00000183914 tier1 - - 200 0 0.00 279 20 6.67 DNAH5 0 genome.wustl.edu 37 5 13766224 13766224 + Missense_Mutation SNP C C T TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 5 13766224 13766224 C T SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.9962 p.R3321Q 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 tier1 - - 113 0 0.00 165 36 17.65 DNAH5 0 genome.wustl.edu 37 5 13885290 13885290 + Missense_Mutation SNP C C A TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 5 13885290 13885290 C A SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.2791 p.A931S 0.206 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 tier1 - - 73 0 0.00 108 16 12.80 DNAI1 0 genome.wustl.edu 37 9 34514437 34514437 + Missense_Mutation SNP C C T TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 9 34514437 34514437 C T SNP DNAI1 ENST00000242317 human ensembl 74_37 +1 known missense c.1615 p.H539Y 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DNAI1 HGNC ENSG00000122735 tier1 - - 137 0 0.00 198 19 8.76 DSCAM 0 genome.wustl.edu 37 21 41711119 41711119 + Silent SNP G G A TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 21 41711119 41711119 G A SNP DSCAM ENST00000400454 human ensembl 74_37 -1 known silent c.1434 p.D478 0.758 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAM HGNC ENSG00000171587 tier1 - - 73 0 0.00 87 6 6.45 ENSG00000161103 0 genome.wustl.edu 37 22 18844763 18844763 + RNA SNP T T C TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 22 18844763 18844763 T C SNP ENSG00000161103 ENST00000412938 human ensembl 74_37 +1 known rna NULL NULL 0.006 - - - no_errors AC008132.13 Clone_based_vega_gene ENSG00000161103 tier1 rs199734135 - 21 0 0.00 21 5 19.23 ENSG00000204791 0 genome.wustl.edu 37 8 145106384 145106384 + RNA DEL G G - TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 8 145106384 145106384 G - DEL ENSG00000204791 ENST00000528912 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors CTD-3065J16.6 Clone_based_vega_gene ENSG00000204791 tier1 20 0 0.00 40 6 13.04 ETV4 0 genome.wustl.edu 37 17 41606906 41606906 + Missense_Mutation SNP C C T TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 17 41606906 41606906 C T SNP ETV4 ENST00000319349 human ensembl 74_37 -1 known missense c.1094 p.R365Q 1.000 pfam_Ets_dom,smart_Ets_dom,prints_Ets_dom,pfscan_Ets_dom pfam_ETS_PEA3_N,pfam_Ets_dom,smart_Ets_dom,prints_Ets_dom,pfscan_Ets_dom - no_errors ETV4 HGNC ENSG00000175832 tier1 - - 67 0 0.00 86 6 6.45 GABRR1 0 genome.wustl.edu 37 6 89907861 89907861 + Silent SNP G G A TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 6 89907861 89907861 G A SNP GABRR1 ENST00000454853 human ensembl 74_37 -1 known silent c.450 p.V150 0.906 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAa_rho1_rcpt,prints_Neur_channel,prints_GABAAa_rho_rcpt,tigrfam_Neur_channel - no_errors GABRR1 HGNC ENSG00000146276 tier1 - - 417 0 0.00 528 49 8.46 GCOM1 0 genome.wustl.edu 37 15 57925903 57925903 + Silent SNP C C T TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 15 57925903 57925903 C T SNP GCOM1 ENST00000380569 human ensembl 74_37 +1 known silent c.897 p.I299 0.529 NULL NULL - no_errors GCOM1 HGNC ENSG00000137878 tier1 - - 113 0 0.00 115 9 7.20 GDPGP1 0 genome.wustl.edu 37 15 90785031 90785031 + Silent SNP G G A TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 15 90785031 90785031 G A SNP GDPGP1 ENST00000329600 human ensembl 74_37 +1 known silent c.891 p.P297 0.003 NULL NULL - no_errors GDPGP1 HGNC ENSG00000183208 tier1 - - 89 0 0.00 130 18 12.16 KIAA1033 0 genome.wustl.edu 37 12 105534782 105534782 + Nonsense_Mutation SNP C C T TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 12 105534782 105534782 C T SNP KIAA1033 ENST00000332180 human ensembl 74_37 +1 known nonsense c.1666 p.R556* 1.000 NULL NULL - no_errors KIAA1033 HGNC ENSG00000136051 tier1 - - 230 0 0.00 298 21 6.58 KRT72 0 genome.wustl.edu 37 12 52979836 52979836 + Missense_Mutation SNP C C A TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 12 52979836 52979836 C A SNP KRT72 ENST00000293745 human ensembl 74_37 -1 known missense c.1466 p.G489V 1.000 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT72 HGNC ENSG00000170486 tier1 - - 187 0 0.00 205 28 12.02 KRTAP19-3 0 genome.wustl.edu 37 21 31864198 31864198 + Silent SNP G G A TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 21 31864198 31864198 G A SNP KRTAP19-3 ENST00000334063 human ensembl 74_37 -1 known silent c.78 p.G26 0.094 pfam_KRTAP_type6/8/16/19/20 pfam_KRTAP_type6/8/16/19/20 - no_errors KRTAP19-3 HGNC ENSG00000244025 tier1 - - 193 0 0.00 251 29 10.32 LILRA2 0 genome.wustl.edu 37 19 55085958 55085958 + Silent SNP C C T TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 19 55085958 55085958 C T SNP LILRA2 ENST00000251377 human ensembl 74_37 +1 known silent c.261 p.I87 0.001 smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom - no_errors LILRA2 HGNC ENSG00000239998 tier1 - - 88 0 0.00 95 10 9.52 LIN7B 0 genome.wustl.edu 37 19 49619698 49619698 + Missense_Mutation SNP G G A TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 19 49619698 49619698 G A SNP LIN7B ENST00000221459 human ensembl 74_37 +1 known missense c.407 p.R136H 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_Lin-7_homologue,pfscan_PDZ pfam_PDZ,pfam_L27_C,superfamily_PDZ,smart_L27,smart_PDZ,pirsf_Lin-7_homologue,pfscan_L27,pfscan_PDZ - no_errors LIN7B HGNC ENSG00000104863 tier1 - - 41 0 0.00 75 10 11.63 LOC100293748 0 genome.wustl.edu 37 1 149261858 149261858 + RNA SNP G G A TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 1 149261858 149261858 G A SNP LOC100293748 ENST00000325963 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-403I13.4 Clone_based_vega_gene ENSG00000223779 tier1 - - 110 0 0.00 120 10 7.69 LTBP1 0 genome.wustl.edu 37 2 33505201 33505201 + Nonsense_Mutation SNP C C T TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 2 33505201 33505201 C T SNP LTBP1 ENST00000354476 human ensembl 74_37 +1 known nonsense c.3091 p.R1031* 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP1 HGNC ENSG00000049323 tier1 - - 85 0 0.00 133 7 5.00 MAGEC3 0 genome.wustl.edu 37 X 140984483 140984483 + Missense_Mutation SNP C C G TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 X 140984483 140984483 C G SNP MAGEC3 ENST00000536088 human ensembl 74_37 +1 known missense c.45 p.D15E 0.001 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC3 HGNC ENSG00000165509 tier1 - - 56 0 0.00 74 18 19.57 MAGED1 0 genome.wustl.edu 37 X 51644767 51644767 + Missense_Mutation SNP G G A TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 X 51644767 51644767 G A SNP MAGED1 ENST00000375695 human ensembl 74_37 +1 known missense c.2246 p.R749H 1.000 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGED1 HGNC ENSG00000179222 tier1 - - 29 0 0.00 32 8 20.00 MAGI3 0 genome.wustl.edu 37 1 114225544 114225544 + Silent SNP G G A TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 1 114225544 114225544 G A SNP MAGI3 ENST00000307546 human ensembl 74_37 +1 novel silent c.3354 p.S1118 0.998 NULL 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 MAGI3 HGNC ENSG00000081026 tier1 - - 87 0 0.00 87 13 13.00 MAK 0 genome.wustl.edu 37 6 10796390 10796390 + Silent SNP G G A TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 6 10796390 10796390 G A SNP MAK ENST00000313243 human ensembl 74_37 -1 known silent c.984 p.I328 0.000 NULL 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 - no_errors MAK HGNC ENSG00000111837 tier1 - - 74 0 0.00 109 6 5.22 MIR99B 0 genome.wustl.edu 37 19 52195895 52195895 + RNA SNP G G C TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 19 52195895 52195895 G C SNP MIR99B ENST00000384819 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR99B HGNC ENSG00000207550 tier1 - - 34 0 0.00 57 7 10.77 MTRF1L 0 genome.wustl.edu 37 6 153311053 153311053 + Nonsense_Mutation SNP C C A TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 6 153311053 153311053 C A SNP MTRF1L ENST00000367233 human ensembl 74_37 -1 known nonsense c.1120 p.E374* 1.000 NULL pfam_Pep_chain_release_fac_I_II,pfam_PCRF,smart_PCRF - no_errors MTRF1L HGNC ENSG00000112031 tier1 - - 190 0 0.00 251 24 8.73 MUC16 0 genome.wustl.edu 37 19 9047581 9047581 + Missense_Mutation SNP C C A TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 19 9047581 9047581 C A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.34050 p.W11350C 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 258 0 0.00 295 30 9.23 N4BP3 0 genome.wustl.edu 37 5 177548112 177548112 + Missense_Mutation SNP G G T TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 5 177548112 177548112 G T SNP N4BP3 ENST00000274605 human ensembl 74_37 +1 known missense c.866 p.R289L 1.000 NULL NULL - no_errors N4BP3 HGNC ENSG00000145911 22 0 0.00 29 4 12.12 NANS 0 genome.wustl.edu 37 9 100843130 100843130 + Frame_Shift_Del DEL A A - TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 9 100843130 100843130 A - DEL NANS ENST00000210444 human ensembl 74_37 +1 known frame_shift_del c.636 p.I212fs 0.970 pfam_Neu5Ac_N pfam_Neu5Ac_N,pfam_SAF,superfamily_AFP_Neu5c_C,smart_SAF,pfscan_AFP_Neu5c_C,prints_Antifreeze_III - no_errors NANS HGNC ENSG00000095380 tier1 178 0 0.00 244 33 11.91 NAT10 0 genome.wustl.edu 37 11 34137370 34137370 + Missense_Mutation SNP G G A TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 11 34137370 34137370 G A SNP NAT10 ENST00000257829 human ensembl 74_37 +1 known missense c.496 p.D166N 1.000 pfam_DUF1726 pfam_Helicase_dom,pfam_DUF1726,superfamily_Acyl_CoA_acyltransferase,superfamily_P-loop_NTPase,pfscan_GNAT_dom - no_errors NAT10 HGNC ENSG00000135372 tier1 - - 112 0 0.00 147 13 8.12 NOVA1 0 genome.wustl.edu 37 14 26917965 26917965 + Missense_Mutation SNP G G T TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 14 26917965 26917965 G T SNP NOVA1 ENST00000539517 human ensembl 74_37 -1 known missense c.724 p.Q242K 1.000 smart_KH_dom pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors NOVA1 HGNC ENSG00000139910 tier1 - - 143 0 0.00 191 19 9.05 OR14A16 0 genome.wustl.edu 37 1 247978534 247978534 + Nonsense_Mutation SNP G G T TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 1 247978534 247978534 G T SNP OR14A16 ENST00000357627 human ensembl 74_37 -1 known nonsense c.498 p.Y166* 0.051 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR14A16 HGNC ENSG00000196772 tier1 - - 124 0 0.00 145 12 7.64 OR4K17 0 genome.wustl.edu 37 14 20585590 20585590 + Missense_Mutation SNP C C A TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 14 20585590 20585590 C A SNP OR4K17 ENST00000315543 human ensembl 74_37 +1 known missense c.25 p.L9I 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4K17 HGNC ENSG00000176230 tier1 - - 124 0 0.00 133 12 8.28 PCDHA4 0 genome.wustl.edu 37 5 140188792 140188792 + Missense_Mutation SNP C C A TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 5 140188792 140188792 C A SNP PCDHA4 ENST00000530339 human ensembl 74_37 +1 known missense c.2020 p.Q674K 0.077 smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA4 HGNC ENSG00000204967 tier1 - - 96 0 0.00 99 6 5.71 PCDHB5 0 genome.wustl.edu 37 5 140517175 140517175 + Missense_Mutation SNP C C T TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 5 140517175 140517175 C T SNP PCDHB5 ENST00000231134 human ensembl 74_37 +1 known missense c.2159 p.S720L 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB5 HGNC ENSG00000113209 tier1 - - 203 0 0.00 291 59 16.81 PITPNC1 0 genome.wustl.edu 37 17 65688789 65688789 + Missense_Mutation SNP C C T TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 17 65688789 65688789 C T SNP PITPNC1 ENST00000335257 human ensembl 74_37 +1 known missense c.784 p.P262S 0.126 NULL pfam_PI_transfer,prints_PI_transfer - no_errors PITPNC1 HGNC ENSG00000154217 tier1 - - 103 0 0.00 168 12 6.67 POTEJ 0 genome.wustl.edu 37 2 131415084 131415084 + Nonsense_Mutation SNP G G A TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 2 131415084 131415084 G A SNP POTEJ ENST00000409602 human ensembl 74_37 +1 novel nonsense c.2751 p.W917* 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related - no_errors POTEJ HGNC ENSG00000222038 tier1 - - 83 0 0.00 109 13 10.66 PPP6R1 0 genome.wustl.edu 37 19 55750783 55750783 + Missense_Mutation SNP C C T TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 19 55750783 55750783 C T SNP PPP6R1 ENST00000412770 human ensembl 74_37 -1 known missense c.1741 p.E581K 1.000 superfamily_ARM-type_fold pfam_SAPS,superfamily_ARM-type_fold - no_errors PPP6R1 HGNC ENSG00000105063 tier1 - - 33 0 0.00 57 6 9.52 PRR23B 0 genome.wustl.edu 37 3 138738790 138738790 + Silent SNP G G A TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 3 138738790 138738790 G A SNP PRR23B ENST00000329447 human ensembl 74_37 -1 known silent c.714 p.C238 0.010 pfam_UPF0572 pfam_UPF0572 - no_errors PRR23B HGNC ENSG00000184814 tier1 - - 29 0 0.00 38 13 25.49 PSMB11 0 genome.wustl.edu 37 14 23511762 23511762 + Missense_Mutation SNP C C T TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 14 23511762 23511762 C T SNP PSMB11 ENST00000408907 human ensembl 74_37 +1 known missense c.328 p.R110W 0.978 pfam_Proteasome_sua/b pfam_Proteasome_sua/b,prints_Pept_T1A_subB - no_errors PSMB11 HGNC ENSG00000222028 tier1 - - 76 0 0.00 106 6 5.36 PTGER4 0 genome.wustl.edu 37 5 40681933 40681933 + Missense_Mutation SNP G G A TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 5 40681933 40681933 G A SNP PTGER4 ENST00000302472 human ensembl 74_37 +1 known missense c.838 p.V280M 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Prostanoid_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Prost_EP4_rcpt,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn,prints_Prostglndn_DP_rcpt - no_errors PTGER4 HGNC ENSG00000171522 tier1 - - 84 0 0.00 116 59 33.71 RAP1GAP 0 genome.wustl.edu 37 1 21929382 21929382 + Missense_Mutation SNP G G A TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 1 21929382 21929382 G A SNP RAP1GAP ENST00000290101 human ensembl 74_37 -1 known missense c.1645 p.P549S 1.000 NULL pfam_Rap_GAP_dom,pfam_GoLoco_motif,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_Rap_GAP_dom - no_errors RAP1GAP HGNC ENSG00000076864 tier1 - - 33 0 0.00 55 10 15.38 RASGRP1 0 genome.wustl.edu 37 15 38811509 38811509 + Splice_Site SNP C C T TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 15 38811509 38811509 C T SNP RASGRP1 ENST00000310803 human ensembl 74_37 -1 known splice_site c.389+1 e4+1 1.000 - - - no_errors RASGRP1 HGNC ENSG00000172575 tier1 - - 88 0 0.00 138 15 9.80 RPL28 0 genome.wustl.edu 37 19 55899351 55899351 + Missense_Mutation SNP C C T TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 19 55899351 55899351 C T SNP RPL28 ENST00000458349 human ensembl 74_37 +1 known missense c.259 p.R87C 1.000 NULL NULL - no_errors RPL28 HGNC ENSG00000108107 tier1 - - 100 0 0.00 138 23 14.29 RSPH6A 0 genome.wustl.edu 37 19 46307603 46307603 + Silent SNP G G A TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 19 46307603 46307603 G A SNP RSPH6A ENST00000221538 human ensembl 74_37 -1 known silent c.1560 p.Y520 0.217 pfam_Radial_spoke pfam_Radial_spoke - no_errors RSPH6A HGNC ENSG00000104941 tier1 - - 41 0 0.00 53 9 14.52 RYR2 0 genome.wustl.edu 37 1 237754064 237754064 + Missense_Mutation SNP C C T TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 1 237754064 237754064 C T SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.3926 p.A1309V 0.984 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 tier1 - - 184 0 0.00 269 21 7.24 RYR2 0 genome.wustl.edu 37 1 237778116 237778116 + Missense_Mutation SNP G G C TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 1 237778116 237778116 G C SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.5682 p.M1894I 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 tier1 - - 48 0 0.00 72 6 7.59 SCG3 0 genome.wustl.edu 37 15 51974745 51974745 + Silent SNP A A G TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 15 51974745 51974745 A G SNP SCG3 ENST00000220478 human ensembl 74_37 +1 known silent c.114 p.A38 1.000 NULL NULL - no_errors SCG3 HGNC ENSG00000104112 tier1 - - 164 0 0.00 169 16 8.60 SCUBE1 0 genome.wustl.edu 37 22 43617197 43617197 + Missense_Mutation SNP C C T TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 22 43617197 43617197 C T SNP SCUBE1 ENST00000360835 human ensembl 74_37 -1 known missense c.1531 p.A511T 0.000 NULL pfam_EGF-like_Ca-bd_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors SCUBE1 HGNC ENSG00000159307 tier1 - - 34 0 0.00 60 11 15.49 SERPINI2 0 genome.wustl.edu 37 3 167189428 167189428 + Silent SNP T T A TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 3 167189428 167189428 T A SNP SERPINI2 ENST00000264677 human ensembl 74_37 -1 known silent c.195 p.G65 1.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINI2 HGNC ENSG00000114204 tier1 - - 119 0 0.00 160 11 6.43 SETX 0 genome.wustl.edu 37 9 135158548 135158549 + RNA DEL AA AA - TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 9 135158548 135158549 AA - DEL SETX ENST00000474172 human ensembl 74_37 -1 known rna NULL NULL 0.010:0.003 - - - no_errors SETX HGNC ENSG00000107290 tier1 12 0 0.00 17 2 10.53 SIN3B 0 genome.wustl.edu 37 19 16982065 16982065 + Silent SNP C C T TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 19 16982065 16982065 C T SNP SIN3B ENST00000379803 human ensembl 74_37 +1 known silent c.2544 p.Y848 1.000 NULL pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact - no_errors SIN3B HGNC ENSG00000127511 tier1 - - 106 0 0.00 160 16 9.09 SLC1A5 0 genome.wustl.edu 37 19 47285646 47285646 + Missense_Mutation SNP A A T TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 19 47285646 47285646 A T SNP SLC1A5 ENST00000542575 human ensembl 74_37 -1 known missense c.818 p.I273N 1.000 pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A5 HGNC ENSG00000105281 tier1 - - 31 0 0.00 78 8 9.20 SLC25A18 0 genome.wustl.edu 37 22 18064127 18064127 + Silent SNP C C T TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 22 18064127 18064127 C T SNP SLC25A18 ENST00000327451 human ensembl 74_37 +1 known silent c.147 p.I49 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 SLC25A18 HGNC ENSG00000182902 tier1 - - 114 0 0.00 148 8 5.13 SLC7A9 0 genome.wustl.edu 37 19 33350777 33350777 + Silent SNP G G A TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 19 33350777 33350777 G A SNP SLC7A9 ENST00000023064 human ensembl 74_37 -1 known silent c.843 p.T281 0.519 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 - no_errors SLC7A9 HGNC ENSG00000021488 tier1 - - 44 0 0.00 47 5 9.62 SLC9A5 0 genome.wustl.edu 37 16 67300017 67300019 + In_Frame_Del DEL GAG GAG - TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 16 67300017 67300019 GAG - DEL SLC9A5 ENST00000299798 human ensembl 74_37 +1 known in_frame_del c.2107_2109 p.E706in_frame_del 1.000:1.000:1.000 NULL pfam_Cation/H_exchanger,prints_Na/H_exchanger_3/5,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A5 HGNC ENSG00000135740 tier1 44 0 0.00 45 4 8.16 SNORD114-6 0 genome.wustl.edu 37 14 101423526 101423526 + RNA SNP G G A TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 14 101423526 101423526 G A SNP SNORD114-6 ENST00000364393 human ensembl 74_37 +1 known rna NULL NULL 0.978 - - - no_errors SNORD114-6 HGNC ENSG00000201263 tier1 rs12432711 - 53 0 0.00 100 8 7.41 SOCS6 0 genome.wustl.edu 37 18 67993130 67993130 + Missense_Mutation SNP G G A TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 18 67993130 67993130 G A SNP SOCS6 ENST00000397942 human ensembl 74_37 +1 known missense c.1226 p.R409Q 1.000 pfam_SH2,smart_SH2,pfscan_SH2 pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2 - no_errors SOCS6 HGNC ENSG00000170677 tier1 - - 88 0 0.00 132 18 12.00 SPICE1 0 genome.wustl.edu 37 3 113184531 113184531 + Missense_Mutation SNP A A C TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 3 113184531 113184531 A C SNP SPICE1 ENST00000295872 human ensembl 74_37 -1 known missense c.1256 p.L419R 0.986 NULL NULL - no_errors SPICE1 HGNC ENSG00000163611 tier1 - - 117 0 0.00 181 12 6.22 SPTA1 0 genome.wustl.edu 37 1 158604389 158604389 + Nonsense_Mutation SNP C C A TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 1 158604389 158604389 C A SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known nonsense c.5509 p.E1837* 0.999 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 tier1 - - 218 0 0.00 191 16 7.73 STXBP1 0 genome.wustl.edu 37 9 130422319 130422319 + Missense_Mutation SNP C C G TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 9 130422319 130422319 C G SNP STXBP1 ENST00000373299 human ensembl 74_37 +1 known missense c.257 p.S86C 1.000 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors STXBP1 HGNC ENSG00000136854 tier1 - - 110 0 0.00 161 24 12.97 SYNE1 0 genome.wustl.edu 37 6 152647726 152647726 + Missense_Mutation SNP G G C TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 6 152647726 152647726 G C SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.14998 p.Q5000E 1.000 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 tier1 - - 86 0 0.00 77 12 13.48 SYTL1 0 genome.wustl.edu 37 1 27676289 27676289 + RNA SNP G G T TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 1 27676289 27676289 G T SNP SYTL1 ENST00000490170 human ensembl 74_37 +1 known rna NULL NULL 0.274 - - - no_errors SYTL1 HGNC ENSG00000142765 tier1 - - 9 0 0.00 7 5 41.67 TCF7 0 genome.wustl.edu 37 5 133480497 133480497 + Missense_Mutation SNP C C T TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 5 133480497 133480497 C T SNP TCF7 ENST00000432532 human ensembl 74_37 +1 known missense c.740 p.S247L 1.000 NULL pfam_HMG_box_dom,pfam_CTNNB1-bd_N,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TCF7 HGNC ENSG00000081059 tier1 - - 55 0 0.00 73 8 9.88 TP53 0 genome.wustl.edu 37 17 7578413 7578413 + Missense_Mutation SNP C C T TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 17 7578413 7578413 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.517 p.V173M 0.996 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 - - 96 0 0.00 124 22 14.97 TRAF1 0 genome.wustl.edu 37 9 123686003 123686003 + Missense_Mutation SNP G G A TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 9 123686003 123686003 G A SNP TRAF1 ENST00000373887 human ensembl 74_37 -1 known missense c.208 p.R70C 0.956 pirsf_TNF_rcpt--assoc_TRAF pfam_MATH,superfamily_TRAF-like,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH - no_errors TRAF1 HGNC ENSG00000056558 tier1 - - 170 0 0.00 226 32 12.36 TRPM8 0 genome.wustl.edu 37 2 234854618 234854618 + Missense_Mutation SNP T T G TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 2 234854618 234854618 T G SNP TRPM8 ENST00000324695 human ensembl 74_37 +1 known missense c.818 p.V273G 0.112 NULL pfam_Ion_trans_dom - no_errors TRPM8 HGNC ENSG00000144481 tier1 - - 122 0 0.00 191 14 6.76 UHRF1BP1L 0 genome.wustl.edu 37 12 100492156 100492156 + Missense_Mutation SNP G G A TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 12 100492156 100492156 G A SNP UHRF1BP1L ENST00000279907 human ensembl 74_37 -1 known missense c.502 p.R168C 1.000 NULL NULL - no_errors UHRF1BP1L HGNC ENSG00000111647 tier1 - - 110 0 0.00 139 15 9.68 VPS13C 0 genome.wustl.edu 37 15 62244050 62244050 + Frame_Shift_Del DEL T T - TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 15 62244050 62244050 T 0 DEL VPS13C ENST00000261517 human ensembl 74_37 -1 known frame_shift_del c.4429 p.I1477fs 0.829 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13C HGNC ENSG00000129003 82 0 0.00 128 13 9.22 WBP1 0 genome.wustl.edu 37 2 74687615 74687615 + Missense_Mutation SNP G G C TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 2 74687615 74687615 G C SNP WBP1 ENST00000233615 human ensembl 74_37 +1 known missense c.617 p.R206P 0.998 NULL pfam_Uncharacterised_WW-bd - no_errors WBP1 HGNC ENSG00000239779 tier1 - - 184 0 0.00 250 22 8.09 WHSC1L1 0 genome.wustl.edu 37 8 38184277 38184277 + Missense_Mutation SNP G G A TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 8 38184277 38184277 G A SNP WHSC1L1 ENST00000317025 human ensembl 74_37 -1 known missense c.1679 p.S560L 0.999 NULL pfam_PWWP_dom,pfam_SET_dom,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors WHSC1L1 HGNC ENSG00000147548 tier1 - - 259 0 0.00 267 34 11.26 ZFYVE26 0 genome.wustl.edu 37 14 68220822 68220822 + Missense_Mutation SNP C C G TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 14 68220822 68220822 C G SNP ZFYVE26 ENST00000347230 human ensembl 74_37 -1 known missense c.7094 p.G2365A 1.000 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE26 HGNC ENSG00000072121 tier1 - - 163 0 0.00 258 23 8.19 ZNF43 0 genome.wustl.edu 37 19 21992233 21992233 + Nonsense_Mutation SNP G G T TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 19 21992233 21992233 G T SNP ZNF43 ENST00000354959 human ensembl 74_37 -1 known nonsense c.606 p.C202* 0.000 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 ZNF43 HGNC ENSG00000198521 tier1 - - 102 0 0.00 126 8 5.97 ZNF724P 0 genome.wustl.edu 37 19 23414153 23414153 + Silent SNP G G A TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 19 23414153 23414153 G A SNP ZNF724P ENST00000597037 human ensembl 74_37 -1 putative silent c.141 p.V47 0.170 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box - no_errors ZNF724P HGNC ENSG00000196081 tier1 - - 201 0 0.00 231 20 7.97 ZNF91 0 genome.wustl.edu 37 19 23543219 23543219 + Nonsense_Mutation SNP G G C TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 19 23543219 23543219 G C SNP ZNF91 ENST00000300619 human ensembl 74_37 -1 known nonsense c.2562 p.Y854* 0.007 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 ZNF91 HGNC ENSG00000167232 tier1 - - 89 0 0.00 97 6 5.83 ZSWIM8 0 genome.wustl.edu 37 10 75559662 75559663 + RNA INS - - TCTA TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 10 75559662 75559663 - TCTA INS ZSWIM8 ENST00000603840 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.001 - - - no_errors ZSWIM8 HGNC ENSG00000214655 tier1 10 0 0.00 9 4 30.77 ZYG11B 0 genome.wustl.edu 37 1 53282280 53282280 + Nonsense_Mutation SNP C C T TCGA-KB-A93G-01A-11D-A397-08 TCGA-KB-A93G-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 471ebfde-5751-4c84-acf4-318d1a278c5a 7b593993-2f70-47d3-bcec-a2a553bd8313 1 53282280 53282280 C T SNP ZYG11B ENST00000294353 human ensembl 74_37 +1 known nonsense c.2023 p.Q675* 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors ZYG11B HGNC ENSG00000162378 tier1 - - 167 0 0.00 148 22 12.94