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 RBM15 0 genome.wustl.edu 37 1 110883915 110883915 + Missense_Mutation SNP C C G TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 1 110883915 110883915 C G SNP RBM15 ENST00000369784 human ensembl 74_37 +1 known missense c.1888 p.R630G 0.912 NULL pfam_SPOC_C,pfam_RRM_dom,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors RBM15 HGNC ENSG00000162775 53 0 0 36 3 7.69231 HIST2H3D 0 genome.wustl.edu 37 1 149785222 149785222 + Missense_Mutation SNP C C G TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 1 149785222 149785222 C G SNP HIST2H3D ENST00000331491 human ensembl 74_37 -1 known missense c.15 p.K5N 1.000 superfamily_Histone-fold,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST2H3D HGNC ENSG00000183598 56 0 0 61 6 8.95522 SELENBP1 0 genome.wustl.edu 37 1 151338282 151338282 + Missense_Mutation SNP G G A TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 1 151338282 151338282 G A SNP SELENBP1 ENST00000426705 human ensembl 74_37 -1 known missense c.1010 p.P337L 1.000 pfam_Se-bd pfam_Se-bd - no_errors SELENBP1 HGNC ENSG00000143416 199 0 0 238 26 9.84848 CHRNB2 0 genome.wustl.edu 37 1 154542274 154542274 + Missense_Mutation SNP C C T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 1 154542274 154542274 C T SNP CHRNB2 ENST00000368476 human ensembl 74_37 +1 known missense c.217 p.R73W 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNB2 HGNC ENSG00000160716 110 0 0 71 39 35.4545 IGSF8 0 genome.wustl.edu 37 1 160062789 160062789 + Nonsense_Mutation SNP G G A TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 1 160062789 160062789 G A SNP IGSF8 ENST00000314485 human ensembl 74_37 -1 known nonsense c.1237 p.R413* 0.130 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors IGSF8 HGNC ENSG00000162729 37 0 0 45 8 15.0943 ALDH4A1 0 genome.wustl.edu 37 1 19203948 19203948 + Missense_Mutation SNP G G A TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 1 19203948 19203948 G A SNP ALDH4A1 ENST00000290597 human ensembl 74_37 -1 known missense c.1099 p.R367W 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_1-pyrroline-5-COlate_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_1-pyrroline-5-COlate_DH - no_errors ALDH4A1 HGNC ENSG00000159423 17 0 0 6 6 50 PIK3C2B 0 genome.wustl.edu 37 1 204401491 204401491 + Missense_Mutation SNP A A G TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 1 204401491 204401491 A G SNP PIK3C2B ENST00000367187 human ensembl 74_37 -1 known missense c.3992 p.L1331P 1.000 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_dom,pfscan_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2B HGNC ENSG00000133056 56 0 0 51 16 23.8806 OR1C1 0 genome.wustl.edu 37 1 247921378 247921378 + Missense_Mutation SNP C C A TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 1 247921378 247921378 C A SNP OR1C1 ENST00000408896 human ensembl 74_37 -1 known missense c.331 p.D111Y 0.869 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 OR1C1 HGNC ENSG00000221888 43 0 0 36 4 10 MACF1 0 genome.wustl.edu 37 1 39919394 39919394 + Missense_Mutation SNP G G T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 1 39919394 39919394 G T SNP MACF1 ENST00000317713 human ensembl 74_37 +1 known missense c.14581 p.V4861L 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors MACF1 HGNC ENSG00000127603 119 0 0 101 15 12.931 HIVEP3 0 genome.wustl.edu 37 1 42047371 42047371 + Missense_Mutation SNP G G A TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 1 42047371 42047371 G A SNP HIVEP3 ENST00000247584 human ensembl 74_37 -1 known missense c.3098 p.A1033V 0.146 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP3 HGNC ENSG00000127124 61 0 0 43 13 23.2143 CWF19L1 0 genome.wustl.edu 37 10 101997883 101997883 + Nonsense_Mutation SNP C C A TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 10 101997883 101997883 C A SNP CWF19L1 ENST00000354105 human ensembl 74_37 -1 known nonsense c.1150 p.E384* 1.000 pfam_Cwf19-like_C_dom-1,superfamily_HIT-like pfam_Cwf19-like_C_dom-1,pfam_Cwf19-like_C_dom-2,superfamily_HIT-like - no_errors CWF19L1 HGNC ENSG00000095485 205 0 0 171 30 14.9254 TRUB1 0 genome.wustl.edu 37 10 116698068 116698068 + Missense_Mutation SNP C C A TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 10 116698068 116698068 C A SNP TRUB1 ENST00000298746 human ensembl 74_37 +1 known missense c.56 p.S19Y 0.000 NULL pfam_PsdUridine_synth,superfamily_PsdUridine_synth_cat_dom,tigrfam_tRNA_psdUridine_synth_TruB - no_errors TRUB1 HGNC ENSG00000165832 34 0 0 20 3 13.0435 TRDMT1 0 genome.wustl.edu 37 10 17199614 17199614 + Missense_Mutation SNP A A C TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 10 17199614 17199614 A C SNP TRDMT1 ENST00000377799 human ensembl 74_37 -1 known missense c.713 p.I238S 0.340 pfam_C5_MeTfrase,tigrfam_C5_MeTfrase pfam_C5_MeTfrase,prints_C5_MeTfrase,tigrfam_C5_MeTfrase - no_errors TRDMT1 HGNC ENSG00000107614 22 0 0 20 5 20 ANKRD26 0 genome.wustl.edu 37 10 27381349 27381349 + Silent SNP T T C TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 10 27381349 27381349 T C SNP ANKRD26 ENST00000436985 human ensembl 74_37 -1 known silent c.624 p.V208 0.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Polyketide_synth_docking,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD26 HGNC ENSG00000107890 11 0 0 13 6 31.5789 HECTD2 0 genome.wustl.edu 37 10 93244365 93244365 + Missense_Mutation SNP A A G TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 10 93244365 93244365 A G SNP HECTD2 ENST00000446394 human ensembl 74_37 +1 known missense c.935 p.K312R 1.000 NULL pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT - no_errors HECTD2 HGNC ENSG00000165338 49 0 0 31 21 40.3846 TECTA 0 genome.wustl.edu 37 11 120998499 120998499 + Missense_Mutation SNP G G A TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 11 120998499 120998499 G A SNP TECTA ENST00000264037 human ensembl 74_37 +1 known missense c.1813 p.V605M 1.000 pfam_TIL_dom,superfamily_TIL_dom pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors TECTA HGNC ENSG00000109927 144 0 0 110 18 14.0625 IGSF9B 0 genome.wustl.edu 37 11 133794727 133794727 + Missense_Mutation SNP C C T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 11 133794727 133794727 C T SNP IGSF9B ENST00000321016 human ensembl 74_37 -1 known missense c.2107 p.V703I 1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGSF9B HGNC ENSG00000080854 173 1 0.574713 95 16 14.4144 OR4A47 0 genome.wustl.edu 37 11 48510956 48510956 + Silent SNP T T C TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 11 48510956 48510956 T C SNP OR4A47 ENST00000446524 human ensembl 74_37 +1 known silent c.612 p.A204 0.002 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4A47 HGNC ENSG00000237388 102 0 0 74 33 30.8411 OR51G2 0 genome.wustl.edu 37 11 4936857 4936857 + Missense_Mutation SNP C C T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 11 4936857 4936857 C T SNP OR51G2 ENST00000322013 human ensembl 74_37 -1 known missense c.37 p.V13I 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51G2 HGNC ENSG00000176893 62 0 0 55 6 9.83607 OR52A5 0 genome.wustl.edu 37 11 5152993 5152993 + Missense_Mutation SNP C C A TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 11 5152993 5152993 C A SNP OR52A5 ENST00000307388 human ensembl 74_37 -1 known missense c.880 p.V294F 0.995 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52A5 HGNC ENSG00000171944 80 0 0 72 9 11.1111 HBG2 0 genome.wustl.edu 37 11 5275585 5275585 + Silent SNP G G C TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 11 5275585 5275585 G C SNP HBG2 ENST00000336906 human ensembl 74_37 -1 known silent c.252 p.G84 0.000 pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Haemoglobin_b pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Haemoglobin_b,prints_Myoglobin - no_errors HBG2 HGNC ENSG00000196565 185 0 0 153 13 7.83133 TRIM51 0 genome.wustl.edu 37 11 55658915 55658915 + Missense_Mutation SNP G G A TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 11 55658915 55658915 G A SNP TRIM51 ENST00000449290 human ensembl 74_37 +1 known missense c.1166 p.C389Y 0.009 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM51 HGNC ENSG00000124900 47 0 0 26 9 25.7143 OR8I2 0 genome.wustl.edu 37 11 55861250 55861250 + Missense_Mutation SNP C C T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 11 55861250 55861250 C T SNP OR8I2 ENST00000302124 human ensembl 74_37 +1 known missense c.467 p.S156L 0.755 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8I2 HGNC ENSG00000172154 119 0 0 137 19 12.1795 DRD4 0 genome.wustl.edu 37 11 639493 639493 + Missense_Mutation SNP G G A TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 11 639493 639493 G A SNP DRD4 ENST00000176183 human ensembl 74_37 +1 known missense c.346 p.V116I 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Dopamine_D4_rcpt,prints_Dopamine_rcpt - no_errors DRD4 HGNC ENSG00000069696 30 0 0 18 2 10 NOC4L 0 genome.wustl.edu 37 12 132635872 132635872 + Silent SNP C C T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 12 132635872 132635872 C T SNP NOC4L ENST00000330579 human ensembl 74_37 +1 known silent c.1032 p.R344 0.029 pfam_CCAAT-binding_factor pfam_CCAAT-binding_factor,superfamily_ARM-type_fold - no_errors NOC4L HGNC ENSG00000184967 170 0 0 112 14 11.1111 GOLGA3 0 genome.wustl.edu 37 12 133381458 133381458 + Missense_Mutation SNP C C G TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 12 133381458 133381458 C G SNP GOLGA3 ENST00000204726 human ensembl 74_37 -1 known missense c.1441 p.E481Q 1.000 NULL superfamily_Prefoldin - no_errors GOLGA3 HGNC ENSG00000090615 129 0 0 79 9 10.2273 KRT6C 0 genome.wustl.edu 37 12 52865203 52865203 + Splice_Site SNP A A T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 12 52865203 52865203 A T SNP KRT6C ENST00000252250 human ensembl 74_37 -1 known splice_site c.912+2 e4+2 1.000 - - - no_errors KRT6C HGNC ENSG00000170465 78 0 0 63 12 16 KRT4 0 genome.wustl.edu 37 12 53207428 53207428 + Missense_Mutation SNP C C T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 12 53207428 53207428 C T SNP KRT4 ENST00000293774 human ensembl 74_37 -1 known missense c.637 p.E213K 1.000 pfam_IF,prints_Keratin_II pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT4 HGNC ENSG00000170477 192 0 0 150 20 11.7647 ACRBP 0 genome.wustl.edu 37 12 6747295 6747295 + RNA SNP G G A TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 12 6747295 6747295 G A SNP ACRBP ENST00000540513 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors ACRBP HGNC ENSG00000111644 10 0 0 1 11 91.6667 CD163L1 0 genome.wustl.edu 37 12 7531888 7531888 + Missense_Mutation SNP G G A TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 12 7531888 7531888 G A SNP CD163L1 ENST00000313599 human ensembl 74_37 -1 known missense c.2057 p.S686L 0.010 superfamily_Srcr_rcpt-rel pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors CD163L1 HGNC ENSG00000177675 34 0 0 31 8 20.5128 FAM90A1 0 genome.wustl.edu 37 12 8374923 8374923 + Missense_Mutation SNP G G A TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 12 8374923 8374923 G A SNP FAM90A1 ENST00000307435 human ensembl 74_37 -1 known missense c.890 p.P297L 0.001 NULL NULL - no_errors FAM90A1 HGNC ENSG00000171847 44 0 0 43 17 28.3333 TNFSF13B 0 genome.wustl.edu 37 13 108959245 108959245 + Missense_Mutation SNP G G A TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 13 108959245 108959245 G A SNP TNFSF13B ENST00000375887 human ensembl 74_37 +1 known missense c.817 p.D273N 0.894 pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,pfscan_TNF_dom pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,pfscan_TNF_dom - no_errors TNFSF13B HGNC ENSG00000102524 64 0 0 58 9 13.4328 PABPC3 0 genome.wustl.edu 37 13 25670716 25670716 + Missense_Mutation SNP C C T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 13 25670716 25670716 C T SNP PABPC3 ENST00000281589 human ensembl 74_37 +1 known missense c.380 p.S127L 1.000 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234 pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC3 HGNC ENSG00000151846 132 0 0 73 29 28.4314 EPSTI1 0 genome.wustl.edu 37 13 43543271 43543271 + Missense_Mutation SNP T T A TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 13 43543271 43543271 T A SNP EPSTI1 ENST00000313640 human ensembl 74_37 -1 known missense c.290 p.Q97L 0.024 NULL NULL - no_errors EPSTI1 HGNC ENSG00000133106 56 0 0 66 7 9.58904 RNASE9 0 genome.wustl.edu 37 14 21024673 21024673 + Missense_Mutation SNP C C A TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 14 21024673 21024673 C A SNP RNASE9 ENST00000338904 human ensembl 74_37 -1 known missense c.556 p.V186L 0.000 superfamily_RNaseA_domain pfam_RNaseA_domain,superfamily_RNaseA_domain - no_errors RNASE9 HGNC ENSG00000188655 31 0 0 23 4 14.8148 FRMD6 0 genome.wustl.edu 37 14 52186866 52186866 + Missense_Mutation SNP C C T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 14 52186866 52186866 C T SNP FRMD6 ENST00000344768 human ensembl 74_37 +1 known missense c.1118 p.A373V 0.988 NULL pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain - no_errors FRMD6 HGNC ENSG00000139926 47 0 0 36 6 14.2857 DDHD1 0 genome.wustl.edu 37 14 53560062 53560062 + Silent SNP T T C TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 14 53560062 53560062 T C SNP DDHD1 ENST00000323669 human ensembl 74_37 -1 known silent c.1113 p.T371 0.738 NULL pfam_DDHD,pfscan_DDHD - no_errors DDHD1 HGNC ENSG00000100523 43 0 0 35 7 16.6667 SYNE2 0 genome.wustl.edu 37 14 64675619 64675619 + Silent SNP A A G TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 14 64675619 64675619 A G SNP SYNE2 ENST00000358025 human ensembl 74_37 +1 known silent c.18345 p.R6115 0.210 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 33 0 0 21 2 8.69565 ZFYVE1 0 genome.wustl.edu 37 14 73441486 73441486 + Splice_Site SNP C C G TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 14 73441486 73441486 C G SNP ZFYVE1 ENST00000553891 human ensembl 74_37 -1 known splice_site c.1987+1 e9+1 1.000 - - - no_errors ZFYVE1 HGNC ENSG00000165861 67 0 0 43 9 17.3077 SERPINA5 0 genome.wustl.edu 37 14 95053780 95053780 + Missense_Mutation SNP G G A TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 14 95053780 95053780 G A SNP SERPINA5 ENST00000329597 human ensembl 74_37 +1 known missense c.81 p.M27I 0.000 superfamily_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA5 HGNC ENSG00000188488 73 0 0 48 15 23.8095 ASB7 0 genome.wustl.edu 37 15 101169989 101169989 + Missense_Mutation SNP G G A TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 15 101169989 101169989 G A SNP ASB7 ENST00000332783 human ensembl 74_37 +1 known missense c.559 p.A187T 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt - no_errors ASB7 HGNC ENSG00000183475 40 0 0 31 19 38 OR4F6 0 genome.wustl.edu 37 15 102346572 102346572 + Missense_Mutation SNP C C T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 15 102346572 102346572 C T SNP OR4F6 ENST00000328882 human ensembl 74_37 +1 known missense c.650 p.S217F 0.994 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 OR4F6 HGNC ENSG00000184140 89 0 0 107 9 7.75862 MNS1 0 genome.wustl.edu 37 15 56726358 56726358 + Missense_Mutation SNP C C T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 15 56726358 56726358 C T SNP MNS1 ENST00000260453 human ensembl 74_37 -1 known missense c.1247 p.R416H 0.397 NULL NULL - no_errors MNS1 HGNC ENSG00000138587 154 0 0 142 75 34.5622 TMEM202 0 genome.wustl.edu 37 15 72691142 72691142 + Missense_Mutation SNP T T G TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 15 72691142 72691142 T G SNP TMEM202 ENST00000341689 human ensembl 74_37 +1 known missense c.230 p.L77R 0.898 NULL NULL - no_errors TMEM202 HGNC ENSG00000187806 84 0 0 93 14 13.0841 CD276 0 genome.wustl.edu 37 15 73996565 73996565 + Missense_Mutation SNP G G A TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 15 73996565 73996565 G A SNP CD276 ENST00000318443 human ensembl 74_37 +1 known missense c.1121 p.R374Q 1.000 pfam_CD80_C2-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_CD80_C2-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD276 HGNC ENSG00000103855 38 0 0 19 12 38.7097 RASGRF1 0 genome.wustl.edu 37 15 79296145 79296145 + Missense_Mutation SNP C C G TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 15 79296145 79296145 C G SNP RASGRF1 ENST00000419573 human ensembl 74_37 -1 known missense c.2496 p.Q832H 0.995 pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRF1 HGNC ENSG00000058335 59 0 0 47 7 12.963 PKD1 0 genome.wustl.edu 37 16 2161261 2161261 + Missense_Mutation SNP C C T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 16 2161261 2161261 C T SNP PKD1 ENST00000262304 human ensembl 74_37 -1 known missense c.3907 p.A1303T 0.191 pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,tigrfam_Polycystin_cat pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_PLAT/LH2_dom,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat - no_errors PKD1 HGNC ENSG00000008710 34 0 0 16 9 36 ALG1 0 genome.wustl.edu 37 16 5125503 5125503 + Missense_Mutation SNP G G A TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 16 5125503 5125503 G A SNP ALG1 ENST00000262374 human ensembl 74_37 +1 known missense c.505 p.G169S 1.000 NULL pfam_Glyco_trans_1 - no_errors ALG1 HGNC ENSG00000033011 92 0 0 71 15 17.4419 CHD9 0 genome.wustl.edu 37 16 53321899 53321899 + Silent SNP C C T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 16 53321899 53321899 C T SNP CHD9 ENST00000398510 human ensembl 74_37 +1 known silent c.5220 p.A1740 0.941 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD9 HGNC ENSG00000177200 80 0 0 48 21 30.4348 CDH1 0 genome.wustl.edu 37 16 68845649 68845649 + Missense_Mutation SNP G G T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 16 68845649 68845649 G T SNP CDH1 ENST00000261769 human ensembl 74_37 +1 known missense c.895 p.A299S 0.163 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH1 HGNC ENSG00000039068 103 0 0 60 23 27.7108 MYH4 0 genome.wustl.edu 37 17 10369949 10369949 + Silent SNP G G T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 17 10369949 10369949 G T SNP MYH4 ENST00000255381 human ensembl 74_37 -1 known silent c.114 p.V38 0.986 pfam_Myosin_N,superfamily_P-loop_NTPase pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH4 HGNC ENSG00000264424 142 0 0 91 54 37.2414 NCOR1 0 genome.wustl.edu 37 17 15989742 15989742 + Missense_Mutation SNP G G A TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 17 15989742 15989742 G A SNP NCOR1 ENST00000268712 human ensembl 74_37 -1 known missense c.3031 p.P1011S 1.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR1 HGNC ENSG00000141027 35 0 0 24 15 38.4615 EFTUD2 0 genome.wustl.edu 37 17 42931680 42931680 + Missense_Mutation SNP T T G TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 17 42931680 42931680 T G SNP EFTUD2 ENST00000426333 human ensembl 74_37 -1 known missense c.2304 p.Q768H 1.000 pfam_Transl_elong_EFG/EF2_IV,superfamily_Ribosomal_S5_D2-typ_fold,smart_Transl_elong_EFG/EF2_IV pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,pfam_MIRO-like,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_B-barrel,superfamily_EFG_III-V,smart_Transl_elong_EFG/EF2_IV,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EFTUD2 HGNC ENSG00000108883 154 0 0 132 13 8.96552 KANSL1 0 genome.wustl.edu 37 17 44249491 44249491 + Missense_Mutation SNP C C T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 17 44249491 44249491 C T SNP KANSL1 ENST00000262419 human ensembl 74_37 -1 known missense c.19 p.A7T 1.000 NULL NULL - no_errors KANSL1 HGNC ENSG00000120071 74 0 0 65 8 10.9589 NPEPPS 0 genome.wustl.edu 37 17 45699261 45699261 + Missense_Mutation SNP G G T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 17 45699261 45699261 G T SNP NPEPPS ENST00000322157 human ensembl 74_37 +1 known missense c.2735 p.R912L 1.000 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors NPEPPS HGNC ENSG00000141279 22 0 0 16 3 15.7895 EPX 0 genome.wustl.edu 37 17 56270828 56270828 + Silent SNP C C T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 17 56270828 56270828 C T SNP EPX ENST00000225371 human ensembl 74_37 +1 known silent c.267 p.A89 0.249 NULL pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors EPX HGNC ENSG00000121053 94 0 0 57 9 13.6364 TP53 0 genome.wustl.edu 37 17 7577538 7577538 + Missense_Mutation SNP C C T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 17 7577538 7577538 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.743 p.R248Q 1.000 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 86 0 0 56 34 37.7778 ESCO1 0 genome.wustl.edu 37 18 19110421 19110421 + Missense_Mutation SNP G G C TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 18 19110421 19110421 G C SNP ESCO1 ENST00000269214 human ensembl 74_37 -1 known missense c.2406 p.S802R 1.000 NULL NULL - no_errors ESCO1 HGNC ENSG00000141446 63 0 0 55 10 15.3846 ZNF521 0 genome.wustl.edu 37 18 22671939 22671939 + Silent SNP G G T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 18 22671939 22671939 G T SNP ZNF521 ENST00000361524 human ensembl 74_37 -1 known silent c.3765 p.T1255 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF521 HGNC ENSG00000198795 44 0 0 40 6 13.0435 DSG4 0 genome.wustl.edu 37 18 28983413 28983413 + Silent SNP T T C TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 18 28983413 28983413 T C SNP DSG4 ENST00000359747 human ensembl 74_37 +1 known silent c.1452 p.C484 0.511 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmosomal_cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmosomal_cadherin - no_errors DSG4 HGNC ENSG00000175065 16 0 0 19 5 20.8333 NEDD4L 0 genome.wustl.edu 37 18 55996338 55996338 + Silent SNP G G A TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 18 55996338 55996338 G A SNP NEDD4L ENST00000400345 human ensembl 74_37 +1 known silent c.792 p.S264 0.000 NULL pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom,prints_C2_dom - no_errors NEDD4L HGNC ENSG00000049759 25 0 0 17 3 15 LAMA1 0 genome.wustl.edu 37 18 7037734 7037734 + Missense_Mutation SNP C C G TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 18 7037734 7037734 C G SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known missense c.1580 p.G527A 1.000 pfscan_Laminin_B_type_IV pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 55 0 0 41 7 14.5833 ZNF85 0 genome.wustl.edu 37 19 21132969 21132969 + Missense_Mutation SNP C C T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 19 21132969 21132969 C T SNP ZNF85 ENST00000328178 human ensembl 74_37 +1 known missense c.1649 p.S550F 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF85 HGNC ENSG00000105750 56 0 0 40 17 29.8246 ZNF208 0 genome.wustl.edu 37 19 22154592 22154592 + Nonsense_Mutation SNP C C A TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 19 22154592 22154592 C A SNP ZNF208 ENST00000397126 human ensembl 74_37 -1 novel nonsense c.3244 p.E1082* 0.168 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 ZNF208 HGNC ENSG00000160321 154 0 0 115 51 30.7229 WDR88 0 genome.wustl.edu 37 19 33628609 33628609 + Silent SNP C C T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 19 33628609 33628609 C T SNP WDR88 ENST00000355868 human ensembl 74_37 +1 known silent c.303 p.H101 0.200 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_PQQ_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_PQQ_beta_propeller_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR88 HGNC ENSG00000166359 76 0 0 70 6 7.89474 WDR88 0 genome.wustl.edu 37 19 33651380 33651380 + Missense_Mutation SNP G G A TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 19 33651380 33651380 G A SNP WDR88 ENST00000355868 human ensembl 74_37 +1 known missense c.1058 p.G353D 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_PQQ_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_PQQ_beta_propeller_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR88 HGNC ENSG00000166359 143 0 0 188 20 9.61538 ZNF382 0 genome.wustl.edu 37 19 37118196 37118196 + Missense_Mutation SNP G G T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 19 37118196 37118196 G T SNP ZNF382 ENST00000292928 human ensembl 74_37 +1 known missense c.1397 p.C466F 1.000 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 ZNF382 HGNC ENSG00000161298 63 0 0 47 7 12.963 DMRTC2 0 genome.wustl.edu 37 19 42354622 42354622 + Missense_Mutation SNP C C A TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 19 42354622 42354622 C A SNP DMRTC2 ENST00000269945 human ensembl 74_37 +1 known missense c.845 p.T282K 1.000 NULL pfam_DM_DNA-bd,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd - no_errors DMRTC2 HGNC ENSG00000142025 56 0 0 69 8 10.3896 MEGF8 0 genome.wustl.edu 37 19 42853692 42853692 + Silent SNP G G A TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 19 42853692 42853692 G A SNP MEGF8 ENST00000251268 human ensembl 74_37 +1 known silent c.2340 p.T780 0.003 NULL pfam_CUB_dom,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_CUB_dom,smart_EG-like_dom,smart_Plexin-like_fold,smart_EGF-like_Ca-bd_dom,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin - no_errors MEGF8 HGNC ENSG00000105429 29 0 0 19 3 13.6364 ZNF525 0 genome.wustl.edu 37 19 53887191 53887191 + RNA SNP T T A TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 19 53887191 53887191 T A SNP ZNF525 ENST00000601790 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ZNF525 HGNC ENSG00000203326 15 0 0 15 2 11.7647 KIR2DL1 0 genome.wustl.edu 37 19 55284925 55284925 + Missense_Mutation SNP C C T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 19 55284925 55284925 C T SNP KIR2DL1 ENST00000336077 human ensembl 74_37 +1 known missense c.211 p.R71C 0.000 pfam_Immunoglobulin,smart_Ig_sub pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR2DL1 HGNC ENSG00000125498 150 0 0 180 20 10 NLRP7 0 genome.wustl.edu 37 19 55450893 55450893 + Nonsense_Mutation SNP G G A TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 19 55450893 55450893 G A SNP NLRP7 ENST00000446217 human ensembl 74_37 -1 known nonsense c.1378 p.R460* 0.000 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP7 HGNC ENSG00000167634 61 0 0 50 8 13.7931 ZNF471 0 genome.wustl.edu 37 19 57036978 57036978 + Silent SNP T T G TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 19 57036978 57036978 T G SNP ZNF471 ENST00000308031 human ensembl 74_37 +1 known silent c.1542 p.P514 0.233 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 ZNF471 HGNC ENSG00000196263 73 0 0 70 20 22.2222 ZNF132 0 genome.wustl.edu 37 19 58944765 58944765 + Silent SNP A A G TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 19 58944765 58944765 A G SNP ZNF132 ENST00000254166 human ensembl 74_37 -1 known silent c.2046 p.T682 0.855 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 ZNF132 HGNC ENSG00000131849 136 0 0 127 32 20.1258 TUBB4A 0 genome.wustl.edu 37 19 6496043 6496043 + Missense_Mutation SNP C C T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 19 6496043 6496043 C T SNP TUBB4A ENST00000264071 human ensembl 74_37 -1 known missense c.467 p.R156H 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Alpha_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Alpha_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin - no_errors TUBB4A HGNC ENSG00000104833 139 0 0 94 41 30.3704 CERS4 0 genome.wustl.edu 37 19 8316115 8316115 + Missense_Mutation SNP T T A TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 19 8316115 8316115 T A SNP CERS4 ENST00000251363 human ensembl 74_37 +1 known missense c.155 p.M52K 0.623 pirsf_Longevity_assurance_LAG1_LAC1 pfam_TLC-dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom,pfscan_Homeobox_dom - no_errors CERS4 HGNC ENSG00000090661 178 0 0 101 72 41.6185 IL18R1 0 genome.wustl.edu 37 2 102992506 102992506 + Missense_Mutation SNP A A G TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 2 102992506 102992506 A G SNP IL18R1 ENST00000233957 human ensembl 74_37 +1 known missense c.608 p.N203S 0.086 smart_Ig_sub pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom,prints_IL-1_rcpt_I/II-typ - no_errors IL18R1 HGNC ENSG00000115604 33 0 0 34 14 29.1667 OSBPL6 0 genome.wustl.edu 37 2 179197640 179197640 + Nonsense_Mutation SNP C C T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 2 179197640 179197640 C T SNP OSBPL6 ENST00000315022 human ensembl 74_37 +1 known nonsense c.466 p.R156* 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Oxysterol-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL6 HGNC ENSG00000079156 150 0 0 122 26 17.5676 TTN 0 genome.wustl.edu 37 2 179669352 179669352 + Silent SNP C C T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 2 179669352 179669352 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.18 p.P6 1.000 pfam_Ig_I-set,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 34 0 0 43 5 10.4167 CAD 0 genome.wustl.edu 37 2 27440776 27440776 + Missense_Mutation SNP G G T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 2 27440776 27440776 G T SNP CAD ENST00000264705 human ensembl 74_37 +1 known missense c.114 p.E38D 1.000 pfam_CarbamoylP_synth_ssu_N,superfamily_CarbamoylP_synth_ssu_N,tigrfam_CarbamoylP_synth_ssu pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf - no_errors CAD HGNC ENSG00000084774 107 0 0 73 22 23.1579 MSH2 0 genome.wustl.edu 37 2 47657028 47657028 + Nonsense_Mutation SNP T T G TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 2 47657028 47657028 T G SNP MSH2 ENST00000233146 human ensembl 74_37 +1 known nonsense c.1224 p.Y408* 1.000 pfam_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_core,pirsf_DNA_mismatch_repair_MSH2 pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mmatch_repair_MutS_con_dom,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_MSH2 - no_errors MSH2 HGNC ENSG00000095002 61 0 0 70 19 21.3483 SSTR4 0 genome.wustl.edu 37 20 23016224 23016224 + Missense_Mutation SNP C C T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 20 23016224 23016224 C T SNP SSTR4 ENST00000255008 human ensembl 74_37 +1 known missense c.104 p.A35V 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt_4,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_Neuropept_B/W_rcpt,prints_NPY_rcpt,prints_Somatstn_rcpt_1 - no_errors SSTR4 HGNC ENSG00000132671 40 0 0 44 4 8.33333 TGM6 0 genome.wustl.edu 37 20 2398117 2398117 + Missense_Mutation SNP C C T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 20 2398117 2398117 C T SNP TGM6 ENST00000202625 human ensembl 74_37 +1 known missense c.1576 p.R526W 0.003 pfam_Transglutaminase_C,superfamily_Transglutaminase_C pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM6 HGNC ENSG00000166948 37 0 0 22 12 35.2941 CHMP4B 0 genome.wustl.edu 37 20 32436452 32436452 + Splice_Site SNP T T C TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 20 32436452 32436452 T C SNP CHMP4B ENST00000217402 human ensembl 74_37 +1 known splice_site c.368+2 e2+2 1.000 - - - no_errors CHMP4B HGNC ENSG00000101421 32 0 0 32 4 11.1111 DLGAP4 0 genome.wustl.edu 37 20 35128038 35128038 + Silent SNP C C T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 20 35128038 35128038 C T SNP DLGAP4 ENST00000339266 human ensembl 74_37 +1 known silent c.2058 p.T686 1.000 pfam_GKAP pfam_GKAP - no_errors DLGAP4 HGNC ENSG00000080845 34 0 0 34 7 17.0732 ARFGEF2 0 genome.wustl.edu 37 20 47633918 47633918 + Missense_Mutation SNP C C T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 20 47633918 47633918 C T SNP ARFGEF2 ENST00000371917 human ensembl 74_37 +1 known missense c.4448 p.P1483L 1.000 superfamily_ARM-type_fold pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors ARFGEF2 HGNC ENSG00000124198 129 0 0 165 9 5.17241 RBM38 0 genome.wustl.edu 37 20 55982766 55982766 + Missense_Mutation SNP C C T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 20 55982766 55982766 C T SNP RBM38 ENST00000356208 human ensembl 74_37 +1 known missense c.584 p.S195L 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM38 HGNC ENSG00000132819 49 0 0 25 5 16.6667 ZNF512B 0 genome.wustl.edu 37 20 62591290 62591290 + Missense_Mutation SNP C C T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 20 62591290 62591290 C T SNP ZNF512B ENST00000217130 human ensembl 74_37 -1 known missense c.2630 p.R877Q 0.002 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF512B HGNC ENSG00000196700 29 0 0 31 12 27.907 CSF2RB 0 genome.wustl.edu 37 22 37331476 37331476 + Missense_Mutation SNP G G A TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 22 37331476 37331476 G A SNP CSF2RB ENST00000262825 human ensembl 74_37 +1 known missense c.1417 p.G473R 0.073 pirsf_IL3_rcpt_beta pirsf_IL3_rcpt_beta,pfam_Fibronectin_type3,pfam_IL-6_rcpt_alpha-bd,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors CSF2RB HGNC ENSG00000100368 57 0 0 44 9 16.9811 MICALL1 0 genome.wustl.edu 37 22 38323469 38323469 + Missense_Mutation SNP C C T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 22 38323469 38323469 C T SNP MICALL1 ENST00000215957 human ensembl 74_37 +1 known missense c.1517 p.S506L 0.999 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM - no_errors MICALL1 HGNC ENSG00000100139 20 0 0 14 4 22.2222 KIAA2018 0 genome.wustl.edu 37 3 113376724 113376724 + Missense_Mutation SNP C C T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 3 113376724 113376724 C T SNP KIAA2018 ENST00000316407 human ensembl 74_37 -1 known missense c.3805 p.V1269M 0.222 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors KIAA2018 HGNC ENSG00000176542 79 0 0 71 10 12.3457 STAG1 0 genome.wustl.edu 37 3 136096538 136096538 + Missense_Mutation SNP C C A TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 3 136096538 136096538 C A SNP STAG1 ENST00000383202 human ensembl 74_37 -1 known missense c.2334 p.Q778H 1.000 superfamily_ARM-type_fold pfam_STAG,superfamily_ARM-type_fold - no_errors STAG1 HGNC ENSG00000118007 83 0 0 60 8 11.7647 CEP70 0 genome.wustl.edu 37 3 138248265 138248265 + Silent SNP G G A TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 3 138248265 138248265 G A SNP CEP70 ENST00000264982 human ensembl 74_37 -1 known silent c.732 p.N244 0.006 NULL pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CEP70 HGNC ENSG00000114107 74 0 0 62 16 20.5128 RSRC1 0 genome.wustl.edu 37 3 157920896 157920896 + Missense_Mutation SNP G G T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 3 157920896 157920896 G T SNP RSRC1 ENST00000295930 human ensembl 74_37 +1 known missense c.356 p.R119L 1.000 NULL NULL - no_errors RSRC1 HGNC ENSG00000174891 45 0 0 45 4 8.16327 FXR1 0 genome.wustl.edu 37 3 180685947 180685947 + Missense_Mutation SNP G G A TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 3 180685947 180685947 G A SNP FXR1 ENST00000357559 human ensembl 74_37 +1 known missense c.1307 p.R436H 1.000 pfam_Frag_X_MRP_fam pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet-like_dom,superfamily_NA-bd_OB-fold,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FXR1 HGNC ENSG00000114416 91 0 0 74 8 9.7561 BAP1 0 genome.wustl.edu 37 3 52443593 52443593 + Nonsense_Mutation SNP G G T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 3 52443593 52443593 G T SNP BAP1 ENST00000460680 human ensembl 74_37 -1 known nonsense c.99 p.Y33* 1.000 pfam_Peptidase_C12 pfam_Peptidase_C12,prints_Peptidase_C12 - no_errors BAP1 HGNC ENSG00000163930 443 0 0 253 106 29.5265 LRIG1 0 genome.wustl.edu 37 3 66436708 66436708 + Nonsense_Mutation SNP G G A TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 3 66436708 66436708 G A SNP LRIG1 ENST00000273261 human ensembl 74_37 -1 known nonsense c.1486 p.Q496* 1.000 pfam_Ig_I-set,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Cys-rich_flank_reg_C,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRIG1 HGNC ENSG00000144749 186 0 0 156 25 13.8122 EPHA6 0 genome.wustl.edu 37 3 97367152 97367152 + Missense_Mutation SNP T T G TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 3 97367152 97367152 T G SNP EPHA6 ENST00000502694 human ensembl 74_37 +1 known missense c.983 p.L328R 0.513 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors EPHA6 HGNC ENSG00000080224 40 0 0 36 5 12.1951 NEUROG2 0 genome.wustl.edu 37 4 113436204 113436204 + Missense_Mutation SNP G G A TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 4 113436204 113436204 G A SNP NEUROG2 ENST00000313341 human ensembl 74_37 -1 known missense c.428 p.P143L 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors NEUROG2 HGNC ENSG00000178403 82 0 0 47 4 7.84314 KIAA1109 0 genome.wustl.edu 37 4 123192559 123192559 + Missense_Mutation SNP G G A TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 4 123192559 123192559 G A SNP KIAA1109 ENST00000264501 human ensembl 74_37 +1 known missense c.7880 p.G2627E 1.000 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 37 0 0 33 7 17.5 ZNF827 0 genome.wustl.edu 37 4 146686173 146686173 + Missense_Mutation SNP T T C TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 4 146686173 146686173 T C SNP ZNF827 ENST00000508784 human ensembl 74_37 -1 known missense c.3197 p.K1066R 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF827 HGNC ENSG00000151612 179 0 0 100 24 19.3548 EDNRA 0 genome.wustl.edu 37 4 148463689 148463689 + Silent SNP C C T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 4 148463689 148463689 C T SNP EDNRA ENST00000324300 human ensembl 74_37 +1 known silent c.1203 p.N401 0.830 prints_ETA_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_ETA_rcpt,prints_Endthln_rcpt,prints_GPCR_Rhodpsn - no_errors EDNRA HGNC ENSG00000151617 77 0 0 72 10 12.1951 KCTD8 0 genome.wustl.edu 37 4 44450216 44450216 + Missense_Mutation SNP C C T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 4 44450216 44450216 C T SNP KCTD8 ENST00000360029 human ensembl 74_37 -1 known missense c.325 p.V109M 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD8 HGNC ENSG00000183783 37 0 0 27 4 12.9032 MFSD7 0 genome.wustl.edu 37 4 680390 680390 + Nonsense_Mutation SNP G G C TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 4 680390 680390 G C SNP MFSD7 ENST00000404286 human ensembl 74_37 -1 known nonsense c.225 p.Y75* 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD7 HGNC ENSG00000169026 140 0 0 77 13 14.4444 ST8SIA4 0 genome.wustl.edu 37 5 100147763 100147763 + Nonsense_Mutation SNP T T A TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 5 100147763 100147763 T A SNP ST8SIA4 ENST00000231461 human ensembl 74_37 -1 known nonsense c.868 p.R290* 0.998 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA4 HGNC ENSG00000113532 49 0 0 50 20 28.5714 PCDHB10 0 genome.wustl.edu 37 5 140573656 140573656 + Missense_Mutation SNP G G A TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 5 140573656 140573656 G A SNP PCDHB10 ENST00000239446 human ensembl 74_37 +1 known missense c.1531 p.G511S 0.998 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB10 HGNC ENSG00000120324 185 1 0.537634 125 30 19.3548 PCDHGB4 0 genome.wustl.edu 37 5 140769437 140769437 + Silent SNP C C T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 5 140769437 140769437 C T SNP PCDHGB4 ENST00000519479 human ensembl 74_37 +1 known silent c.1986 p.F662 0.944 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB4 HGNC ENSG00000253953 100 0 0 63 19 23.1707 PCDHGB6 0 genome.wustl.edu 37 5 140788444 140788444 + Silent SNP C C T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 5 140788444 140788444 C T SNP PCDHGB6 ENST00000520790 human ensembl 74_37 +1 known silent c.675 p.T225 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB6 HGNC ENSG00000253305 31 0 0 11 5 31.25 ZNF346 0 genome.wustl.edu 37 5 176468802 176468802 + Silent SNP G G A TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 5 176468802 176468802 G A SNP ZNF346 ENST00000261948 human ensembl 74_37 +1 known silent c.378 p.V126 1.000 smart_Znf_U1 smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZNF346 HGNC ENSG00000113761 41 0 0 28 9 24.3243 LMBRD2 0 genome.wustl.edu 37 5 36137532 36137532 + Missense_Mutation SNP G G A TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 5 36137532 36137532 G A SNP LMBRD2 ENST00000296603 human ensembl 74_37 -1 known missense c.380 p.P127L 1.000 pfam_LMBR1-like_membr_prot pfam_LMBR1-like_membr_prot - no_errors LMBRD2 HGNC ENSG00000164187 49 0 0 66 49 42.6087 CDC5L 0 genome.wustl.edu 37 6 44376302 44376302 + Missense_Mutation SNP A A G TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 6 44376302 44376302 A G SNP CDC5L ENST00000371477 human ensembl 74_37 +1 known missense c.1025 p.N342S 1.000 pfam_DUF3351 pfam_DUF3351,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors CDC5L HGNC ENSG00000096401 89 0 0 69 14 16.8675 MANEA 0 genome.wustl.edu 37 6 96034725 96034725 + Missense_Mutation SNP A A G TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 6 96034725 96034725 A G SNP MANEA ENST00000358812 human ensembl 74_37 +1 known missense c.410 p.K137R 0.862 NULL superfamily_Glycoside_hydrolase_SF - no_errors MANEA HGNC ENSG00000172469 105 0 0 87 33 27.5 SLC26A4 0 genome.wustl.edu 37 7 107314680 107314680 + Missense_Mutation SNP G G A TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 7 107314680 107314680 G A SNP SLC26A4 ENST00000265715 human ensembl 74_37 +1 known missense c.487 p.V163I 0.000 tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A4 HGNC ENSG00000091137 122 0 0 106 18 14.5161 NUP205 0 genome.wustl.edu 37 7 135304191 135304191 + Silent SNP G G A TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 7 135304191 135304191 G A SNP NUP205 ENST00000285968 human ensembl 74_37 +1 known silent c.3984 p.A1328 0.240 pfam_Nup186/Nup192/Nup205 pfam_Nup186/Nup192/Nup205 - no_errors NUP205 HGNC ENSG00000155561 127 1 0.78125 110 38 25.6757 GBX1 0 genome.wustl.edu 37 7 150864322 150864322 + Missense_Mutation SNP A A C TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 7 150864322 150864322 A C SNP GBX1 ENST00000297537 human ensembl 74_37 -1 known missense c.314 p.L105R 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom - no_errors GBX1 HGNC ENSG00000164900 8 0 0 1 2 66.6667 GHRHR 0 genome.wustl.edu 37 7 31018824 31018824 + Missense_Mutation SNP C C T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 7 31018824 31018824 C T SNP GHRHR ENST00000326139 human ensembl 74_37 +1 known missense c.1237 p.R413C 0.000 prints_GPCR_2_GHRH_rcpt pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_GHRH_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_VIP_rcpt_1 - no_errors GHRHR HGNC ENSG00000106128 63 0 0 62 8 11.4286 ZNF716 0 genome.wustl.edu 37 7 57529052 57529052 + Silent SNP C C A TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 7 57529052 57529052 C A SNP ZNF716 ENST00000420713 human ensembl 74_37 +1 known silent c.885 p.P295 0.956 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 ZNF716 HGNC ENSG00000182111 52 0 0 48 18 27.2727 PCLO 0 genome.wustl.edu 37 7 82579844 82579844 + Missense_Mutation SNP C C A TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 7 82579844 82579844 C A SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.10060 p.D3354Y 0.995 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 31 0 0 29 6 17.1429 RIMS2 0 genome.wustl.edu 37 8 104898126 104898126 + Silent SNP T T C TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 8 104898126 104898126 T C SNP RIMS2 ENST00000406091 human ensembl 74_37 +1 known silent c.1299 p.P433 0.994 NULL pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC ENSG00000176406 53 0 0 64 34 34.6939 OC90 0 genome.wustl.edu 37 8 133044144 133044144 + Silent SNP T T G TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 8 133044144 133044144 T G SNP OC90 ENST00000443356 human ensembl 74_37 -1 known silent c.1063 p.R355 0.059 pfam_PLipase_A2_dom,superfamily_PLipase_A2_dom,smart_PLipase_A2_dom pfam_PLipase_A2_dom,superfamily_PLipase_A2_dom,smart_PLipase_A2_dom,prints_PLipase_A2 - no_errors OC90 Uniprot_gn ENSG00000258417 36 0 0 42 5 10.6383 ZNF250 0 genome.wustl.edu 37 8 146115423 146115423 + Missense_Mutation SNP C C A TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 8 146115423 146115423 C A SNP ZNF250 ENST00000292579 human ensembl 74_37 -1 known missense c.79 p.V27L 1.000 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box 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 ZNF250 HGNC ENSG00000196150 22 0 0 31 3 8.82353 FGF20 0 genome.wustl.edu 37 8 16850819 16850819 + Missense_Mutation SNP A A G TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 8 16850819 16850819 A G SNP FGF20 ENST00000180166 human ensembl 74_37 -1 known missense c.398 p.L133P 1.000 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF20 HGNC ENSG00000078579 132 0 0 91 38 29.4574 POP1 0 genome.wustl.edu 37 8 99135655 99135655 + Missense_Mutation SNP A A T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 8 99135655 99135655 A T SNP POP1 ENST00000349693 human ensembl 74_37 +1 known missense c.90 p.R30S 0.026 NULL pfam_RNase_P/MRP_POP1,pfam_POPLD - no_errors POP1 HGNC ENSG00000104356 53 0 0 75 8 9.63855 IKBKAP 0 genome.wustl.edu 37 9 111674597 111674597 + Missense_Mutation SNP C C T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 9 111674597 111674597 C T SNP IKBKAP ENST00000374647 human ensembl 74_37 -1 known missense c.1136 p.R379Q 1.000 pfam_IKI3,pirsf_IKI3 pfam_IKI3,superfamily_ARM-type_fold,superfamily_UBA-like,pirsf_IKI3 - no_errors IKBKAP HGNC ENSG00000070061 91 0 0 103 8 7.20721 PDCL 0 genome.wustl.edu 37 9 125588916 125588916 + Missense_Mutation SNP C C T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 9 125588916 125588916 C T SNP PDCL ENST00000259467 human ensembl 74_37 -1 known missense c.151 p.E51K 1.000 pfam_Phosducin_thioredoxin-like_dom,superfamily_Thioredoxin-like_fold,prints_Phosducin pfam_Phosducin_thioredoxin-like_dom,superfamily_Thioredoxin-like_fold,prints_Phosducin - no_errors PDCL HGNC ENSG00000136940 37 0 0 66 14 17.5 LAMC3 0 genome.wustl.edu 37 9 133960933 133960933 + Silent SNP G G T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 9 133960933 133960933 G T SNP LAMC3 ENST00000361069 human ensembl 74_37 +1 known silent c.4053 p.R1351 0.792 NULL pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_B_type_IV,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMC3 HGNC ENSG00000050555 70 0 0 87 5 5.43478 TRPM6 0 genome.wustl.edu 37 9 77354315 77354315 + Missense_Mutation SNP T T A TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 9 77354315 77354315 T A SNP TRPM6 ENST00000451710 human ensembl 74_37 -1 known missense c.5550 p.Q1850H 0.995 pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors TRPM6 HGNC ENSG00000119121 80 0 0 113 10 8.13008 PTPDC1 0 genome.wustl.edu 37 9 96864034 96864034 + Splice_Site SNP G G A TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 9 96864034 96864034 G A SNP PTPDC1 ENST00000375360 human ensembl 74_37 +1 known splice_site c.2037+1 e7+1 1.000 - - - no_errors PTPDC1 HGNC ENSG00000158079 37 0 0 22 17 43.5897 MT-RNR2 0 genome.wustl.edu 37 MT 2652 2652 + RNA SNP G G A TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 MT 2652 2652 G A SNP MT-RNR2 ENST00000387347 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-RNR2 HGNC ENSG00000210082 41 0 0 2 3 60 AFF2 0 genome.wustl.edu 37 X 147743964 147743964 + Missense_Mutation SNP C C T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 X 147743964 147743964 C T SNP AFF2 ENST00000370460 human ensembl 74_37 +1 known missense c.716 p.P239L 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF2 HGNC ENSG00000155966 89 0 0 66 73 52.518 NOTCH2 0 genome.wustl.edu 37 1 120612003 120612004 + Frame_Shift_Del DEL GG GG - TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 GG GG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 1 120612003 120612004 GG - DEL NOTCH2 ENST00000256646 human ensembl 74_37 -1 known frame_shift_del c.18_17 p.P6fs 0.101:0.700 pirsf_Notch pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH2 HGNC ENSG00000134250 35 0 0 25 4 13.7931 CMPK1 0 genome.wustl.edu 37 1 47834142 47834143 + Frame_Shift_Ins INS - - AT TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 1 47834142 47834143 - AT INS CMPK1 ENST00000371873 human ensembl 74_37 +1 known frame_shift_ins c.173_174 p.G60fs 1.000:0.995 pfam_Adenylate_kin,pfam_Zeta_toxin_domain,superfamily_P-loop_NTPase,tigrfam_UMP_CMP_kinase pfam_Adenylate_kin,pfam_Zeta_toxin_domain,superfamily_P-loop_NTPase,prints_Adenylate_kin,tigrfam_UMP_CMP_kinase - no_errors CMPK1 HGNC ENSG00000162368 85 0 0 61 8 11.5942 C1orf141 0 genome.wustl.edu 37 1 67561987 67561988 + Frame_Shift_Ins INS - - T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 1 67561987 67561988 - T INS C1orf141 ENST00000371006 human ensembl 74_37 -1 known frame_shift_ins c.364_363 p.P121fs 0.000:0.000 NULL NULL - no_errors C1orf141 HGNC ENSG00000203963 28 0 0 11 3 21.4286 GLIPR1L2 0 genome.wustl.edu 37 12 75804255 75804255 + Frame_Shift_Del DEL A A - TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 12 75804255 75804255 A - DEL GLIPR1L2 ENST00000550916 human ensembl 74_37 +1 known frame_shift_del c.276 p.K94fs 0.726 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 - no_errors GLIPR1L2 HGNC ENSG00000180481 82 0 0 69 15 17.8571 SACS 0 genome.wustl.edu 37 13 23912864 23912864 + Frame_Shift_Del DEL T T - TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 13 23912864 23912864 T - DEL SACS ENST00000382292 human ensembl 74_37 -1 known frame_shift_del c.5151 p.K1717fs 0.000 NULL pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 35 0 0 28 6 17.6471 FANCM 0 genome.wustl.edu 37 14 45645901 45645902 + Frame_Shift_Ins INS - - A TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 14 45645901 45645902 - A INS FANCM ENST00000267430 human ensembl 74_37 +1 known frame_shift_ins c.3944_3945 p.N1317fs 0.050:0.046 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_ERCC4_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors FANCM HGNC ENSG00000187790 69 0 0 63 14 18.1818 IL27 0 genome.wustl.edu 37 16 28511198 28511200 + In_Frame_Del DEL TCC TCC - TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 TCC TCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 16 28511198 28511200 TCC - DEL IL27 ENST00000356897 human ensembl 74_37 -1 known in_frame_del c.506_504 p.E172in_frame_del 0.049:0.009:0.000 superfamily_4_helix_cytokine-like_core superfamily_4_helix_cytokine-like_core - no_errors IL27 HGNC ENSG00000197272 8 0 0 4 2 33.3333 C16orf71 0 genome.wustl.edu 37 16 4796953 4796955 + In_Frame_Del DEL GAG GAG - TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 16 4796953 4796955 GAG - DEL C16orf71 ENST00000299320 human ensembl 74_37 +1 known in_frame_del c.1207_1209 p.E406in_frame_del 0.984:0.985:0.987 NULL NULL - no_errors C16orf71 HGNC ENSG00000166246 21 0 0 14 2 12.5 WFIKKN1 0 genome.wustl.edu 37 16 683929 683930 + Frame_Shift_Ins INS - - T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 16 683929 683930 - T INS WFIKKN1 ENST00000319070 human ensembl 74_37 +1 known frame_shift_ins c.1519_1520 p.R508fs 1.000:1.000 pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,pfscan_Netrin_domain pfam_Prot_inh_Kunz-m,pfam_Ig_I-set,pfam_Ig_V-set,pfam_WAP-type_4-diS_core,pfam_Kazal_dom,pfam_Immunoglobulin,pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,superfamily_Prot_inh_Kunz-m,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_Ig_sub,smart_Ig_sub2,smart_Prot_inh_Kunz-m,pfscan_Netrin_domain,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like_dom,prints_Prot_inh_Kunz-m - no_errors WFIKKN1 HGNC ENSG00000127578 16 0 0 6 3 33.3333 GRIK5 0 genome.wustl.edu 37 19 42569896 42569898 + In_Frame_Del DEL CAG CAG - TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 CAG CAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 19 42569896 42569898 CAG - DEL GRIK5 ENST00000301218 human ensembl 74_37 -1 known in_frame_del c.27_25 p.L9in_frame_del 1.000:1.000:1.000 NULL pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK5 HGNC ENSG00000105737 26 0 0 10 2 16.6667 BIRC6 0 genome.wustl.edu 37 2 32836620 32836621 + In_Frame_Ins INS - - CAT TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 2 32836620 32836621 - CAT INS BIRC6 ENST00000421745 human ensembl 74_37 +1 known in_frame_ins c.14365_14366 p.4790in_frame_insS 1.000:1.000 NULL pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC ENSG00000115760 89 0 0 68 4 5.55556 HM13 0 genome.wustl.edu 37 20 30142484 30142485 + RNA INS - - A TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 20 30142484 30142485 - A INS HM13 ENST00000474466 human ensembl 74_37 +1 known rna NULL NULL 0.193:0.172 - - - no_errors HM13 HGNC ENSG00000101294 9 0 0 9 6 40 ADNP 0 genome.wustl.edu 37 20 49508204 49508204 + Frame_Shift_Del DEL T T - TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 20 49508204 49508204 T - DEL ADNP ENST00000349014 human ensembl 74_37 -1 known frame_shift_del c.3047 p.K1016fs 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ADNP HGNC ENSG00000101126 70 0 0 92 7 7.07071 MCM3AP-AS1 0 genome.wustl.edu 37 21 47662913 47662914 + RNA INS - - C TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 21 47662913 47662914 - C INS MCM3AP-AS1 ENST00000421927 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.001 - - - no_errors MCM3AP-AS1 HGNC ENSG00000215424 16 0 0 17 4 19.0476 UTP3 0 genome.wustl.edu 37 4 71554691 71554693 + In_Frame_Del DEL GGA GGA - TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 GGA GGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 4 71554691 71554693 GGA - DEL UTP3 ENST00000254803 human ensembl 74_37 +1 known in_frame_del c.297_299 p.E103in_frame_del 0.002:0.002:0.002 NULL pfam_Sas10_C_dom,pfam_Sas10/Utp3/C1D - no_errors UTP3 HGNC ENSG00000132467 39 0 0 34 5 12.8205 CA5B 0 genome.wustl.edu 37 X 15768100 15768100 + RNA DEL A A - TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 X 15768100 15768100 A - DEL CA5B ENST00000380313 human ensembl 74_37 +1 known rna NULL NULL 0.612 - - - no_errors CA5B HGNC ENSG00000169239 49 0 0 40 14 25.9259