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 dbSNP GMAF n_ref_count n_alt_count normal_vaf t_ref_count t_alt_count tumor_vaf n_ref_count_val n_alt_count_val normal_vaf_val t_ref_count_val t_alt_count_val tumor_vaf_val SHROOM3 0 genome.wustl.edu 37 4 77357347 77357347 + Missense_Mutation SNP C C T TCGA-3B-A9I3-01A-11D-A38Z-09 TCGA-3B-A9I3-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f6e1ec5e-069a-468e-86f6-24657fdeff5a 1fdd19d3-2a91-411e-b3aa-e425aa45b4ce 4 77357347 77357347 C T SNP SHROOM3 ENST00000296043 human ensembl 74_37 +1 known missense c.142 p.H48Y 0.982 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM3 HGNC ENSG00000138771 tier1 - - 32 0 0.00 80 12 12.90 55 1 1.79 160 29 15.34 FAT1 0 genome.wustl.edu 37 4 187630313 187630313 + Silent SNP G G T TCGA-3B-A9I3-01A-11D-A38Z-09 TCGA-3B-A9I3-10A-01D-A38Z-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f6e1ec5e-069a-468e-86f6-24657fdeff5a 1fdd19d3-2a91-411e-b3aa-e425aa45b4ce 4 187630313 187630313 G T SNP FAT1 ENST00000441802 human ensembl 74_37 -1 known silent c.669 p.L223 0.045 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT1 HGNC ENSG00000083857 tier1 - - 11 0 0.00 30 11 26.83 59 0 0.00 70 19 21.35 TNXB 0 genome.wustl.edu 37 6 32014049 32014049 + Silent SNP G G T TCGA-3B-A9I3-01A-11D-A38Z-09 TCGA-3B-A9I3-10A-01D-A38Z-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f6e1ec5e-069a-468e-86f6-24657fdeff5a 1fdd19d3-2a91-411e-b3aa-e425aa45b4ce 6 32014049 32014049 G T SNP TNXB ENST00000375247 human ensembl 74_37 -1 known silent c.10503 p.T3501 0.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 tier1 - - 121 0 0.00 44 38 46.34 42 0 0.00 22 6 21.43 WDFY4 0 genome.wustl.edu 37 10 49951578 49951578 + Missense_Mutation SNP C C G TCGA-3B-A9I3-01A-11D-A38Z-09 TCGA-3B-A9I3-10A-01D-A38Z-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f6e1ec5e-069a-468e-86f6-24657fdeff5a 1fdd19d3-2a91-411e-b3aa-e425aa45b4ce 10 49951578 49951578 C G SNP WDFY4 ENST00000325239 human ensembl 74_37 +1 known missense c.2444 p.P815R 1.000 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY4 HGNC ENSG00000128815 tier1 - - 18 0 0.00 10 4 28.57 88 0 0.00 89 23 20.54 ENSG00000268032 0 genome.wustl.edu 37 19 18142862 18142862 + R SNP A A C TCGA-3B-A9I3-01A-11D-A38Z-09 TCGA-3B-A9I3-10A-01D-A38Z-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f6e1ec5e-069a-468e-86f6-24657fdeff5a 1fdd19d3-2a91-411e-b3aa-e425aa45b4ce 19 18142862 18142862 A C SNP ENSG00000268032 ENST00000594957 human ensembl 74_37 +1 known rna NULL NULL 0.062 - - - no_errors CTB-52I2.4 Clone_based_vega_gene ENSG00000268032 tier1 - - 86 0 0.00 111 33 22.92 45 0 0.00 39 10 20.41 PCDHA7 0 genome.wustl.edu 37 5 140214396 140214396 + Missense_Mutation SNP C C T TCGA-3B-A9I3-01A-11D-A38Z-09 TCGA-3B-A9I3-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f6e1ec5e-069a-468e-86f6-24657fdeff5a 1fdd19d3-2a91-411e-b3aa-e425aa45b4ce 5 140214396 140214396 C T SNP PCDHA7 ENST00000525929 human ensembl 74_37 +1 known missense c.428 p.A143V 0.002 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA7 HGNC ENSG00000204963 tier1 - - 162 0 0.00 92 19 17.12 134 0 0.00 72 17 19.10 ANKRD36BP2 0 genome.wustl.edu 37 2 89084354 89084354 + R SNP G G A TCGA-3B-A9I3-01A-11D-A38Z-09 TCGA-3B-A9I3-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f6e1ec5e-069a-468e-86f6-24657fdeff5a 1fdd19d3-2a91-411e-b3aa-e425aa45b4ce 2 89084354 89084354 G A SNP ANKRD36BP2 ENST00000393515 human ensembl 74_37 +1 known rna NULL NULL 0.017 - - - no_errors ANKRD36BP2 HGNC ENSG00000230006 tier1 - - 26 0 0.00 96 30 23.81 7 0 0.00 38 7 15.56 DNM3 0 genome.wustl.edu 37 1 172356396 172356396 + Missense_Mutation SNP G G A TCGA-3B-A9I3-01A-11D-A38Z-09 TCGA-3B-A9I3-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f6e1ec5e-069a-468e-86f6-24657fdeff5a 1fdd19d3-2a91-411e-b3aa-e425aa45b4ce 1 172356396 172356396 G A SNP DNM3 ENST00000358155 human ensembl 74_37 +1 known missense c.2182 p.A728T 0.996 pfam_GED,smart_GED pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin_SF - no_errors DNM3 HGNC ENSG00000197959 tier1 - - 44 0 0.00 38 13 25.49 31 0 0.00 51 8 13.56 NPVF 0 genome.wustl.edu 37 7 25267967 25267967 + Missense_Mutation SNP A A C TCGA-3B-A9I3-01A-11D-A38Z-09 TCGA-3B-A9I3-10A-01D-A38Z-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f6e1ec5e-069a-468e-86f6-24657fdeff5a 1fdd19d3-2a91-411e-b3aa-e425aa45b4ce 7 25267967 25267967 A C SNP NPVF ENST00000222674 human ensembl 74_37 -1 known missense c.92 p.V31G 0.023 NULL NULL - no_errors NPVF HGNC ENSG00000105954 tier1 - - 26 0 0.00 135 50 26.88 13 0 0.00 90 14 13.46 NELFB 0 genome.wustl.edu 37 9 140150876 140150876 + Missense_Mutation SNP C C T TCGA-3B-A9I3-01A-11D-A38Z-09 TCGA-3B-A9I3-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f6e1ec5e-069a-468e-86f6-24657fdeff5a 1fdd19d3-2a91-411e-b3aa-e425aa45b4ce 9 140150876 140150876 C T SNP NELFB ENST00000343053 human ensembl 74_37 +1 known missense c.362 p.P121L 1.000 pfam_COBRA1 pfam_COBRA1 - no_errors NELFB HGNC ENSG00000188986 tier1 - - 23 0 0.00 25 6 19.35 79 0 0.00 43 17 28.33 TP53BP1 0 genome.wustl.edu 37 15 43749174 43749174 + Missense_Mutation SNP A A T TCGA-3B-A9I3-01A-11D-A38Z-09 TCGA-3B-A9I3-10A-01D-A38Z-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f6e1ec5e-069a-468e-86f6-24657fdeff5a 1fdd19d3-2a91-411e-b3aa-e425aa45b4ce 15 43749174 43749174 A T SNP TP53BP1 ENST00000382044 human ensembl 74_37 -1 known missense c.1632 p.D544E 0.971 NULL pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TP53BP1 HGNC ENSG00000067369 tier1 - - 34 0 0.00 91 10 9.90 48 0 0.00 110 16 12.70 LHX8 0 genome.wustl.edu 37 1 75608895 75608895 + Missense_Mutation SNP G G A TCGA-3B-A9I3-01A-11D-A38Z-09 TCGA-3B-A9I3-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f6e1ec5e-069a-468e-86f6-24657fdeff5a 1fdd19d3-2a91-411e-b3aa-e425aa45b4ce 1 75608895 75608895 G A SNP LHX8 ENST00000294638 human ensembl 74_37 +1 known missense c.482 p.C161Y 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LHX8 HGNC ENSG00000162624 tier1 - - 17 0 0.00 55 9 14.06 21 0 0.00 61 7 10.00 MRPS5 0 genome.wustl.edu 37 2 95753147 95753147 + Silent SNP T T A TCGA-3B-A9I3-01A-11D-A38Z-09 TCGA-3B-A9I3-10A-01D-A38Z-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f6e1ec5e-069a-468e-86f6-24657fdeff5a 1fdd19d3-2a91-411e-b3aa-e425aa45b4ce 2 95753147 95753147 T A SNP MRPS5 ENST00000272418 human ensembl 74_37 -1 known silent c.1248 p.G416 0.009 NULL pfam_Ribosomal_S5_C,pfam_Ribosomal_S5_N,superfamily_Ribosomal_S5_D2-typ_fold,pfscan_Ribosomal_S5_N - no_errors MRPS5 HGNC ENSG00000144029 tier1 - - 42 0 0.00 43 14 24.56 52 0 0.00 102 23 18.40 FAM110B 0 genome.wustl.edu 37 8 59058842 59058842 + Missense_Mutation SNP C C T TCGA-3B-A9I3-01A-11D-A38Z-09 TCGA-3B-A9I3-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f6e1ec5e-069a-468e-86f6-24657fdeff5a 1fdd19d3-2a91-411e-b3aa-e425aa45b4ce 8 59058842 59058842 C T SNP FAM110B ENST00000361488 human ensembl 74_37 +1 known missense c.53 p.A18V 0.999 NULL NULL - no_errors FAM110B HGNC ENSG00000169122 tier1 rs140524173 - 161 0 0.00 67 19 22.09 36 0 0.00 25 4 13.79 CRISPLD1 0 genome.wustl.edu 37 8 75929118 75929118 + Missense_Mutation SNP C C G TCGA-3B-A9I3-01A-11D-A38Z-09 TCGA-3B-A9I3-10A-01D-A38Z-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f6e1ec5e-069a-468e-86f6-24657fdeff5a 1fdd19d3-2a91-411e-b3aa-e425aa45b4ce 8 75929118 75929118 C G SNP CRISPLD1 ENST00000262207 human ensembl 74_37 +1 known missense c.871 p.Q291E 1.000 superfamily_LCCL,smart_LCCL,pfscan_LCCL pfam_LCCL,pfam_CAP_domain,superfamily_CAP_domain,superfamily_LCCL,smart_Allrgn_V5/Tpx1,smart_LCCL,pfscan_LCCL,prints_Allrgn_V5/Tpx1 - no_errors CRISPLD1 HGNC ENSG00000121005 tier1 - - 16 0 0.00 79 17 17.71 25 0 0.00 62 13 17.11 PPIP5K2 0 genome.wustl.edu 37 5 102486984 102486984 + Silent SNP C C A TCGA-3B-A9I3-01A-11D-A38Z-09 TCGA-3B-A9I3-10A-01D-A38Z-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f6e1ec5e-069a-468e-86f6-24657fdeff5a 1fdd19d3-2a91-411e-b3aa-e425aa45b4ce 5 102486984 102486984 C A SNP PPIP5K2 ENST00000358359 human ensembl 74_37 +1 known silent c.934 p.R312 1.000 NULL pfam_His_Pase_superF_clade-2 - no_errors PPIP5K2 HGNC ENSG00000145725 tier1 - - 125 0 0.00 280 70 20.00 34 0 0.00 90 22 19.64 TTN 0 genome.wustl.edu 37 2 179569022 179569022 + Silent SNP G G T TCGA-3B-A9I3-01A-11D-A38Z-09 TCGA-3B-A9I3-10A-01D-A38Z-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f6e1ec5e-069a-468e-86f6-24657fdeff5a 1fdd19d3-2a91-411e-b3aa-e425aa45b4ce 2 179569022 179569022 G T SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.26343 p.G8781 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,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 tier1 - - 16 0 0.00 55 8 12.70 33 0 0.00 57 9 13.64 LRP1B 0 genome.wustl.edu 37 2 141641542 141641542 + Missense_Mutation SNP T T C TCGA-3B-A9I3-01A-11D-A38Z-09 TCGA-3B-A9I3-10A-01D-A38Z-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f6e1ec5e-069a-468e-86f6-24657fdeff5a 1fdd19d3-2a91-411e-b3aa-e425aa45b4ce 2 141641542 141641542 T C SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.4013 p.E1338G 1.000 smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 tier1 - - 18 0 0.00 42 11 20.75 10 0 0.00 80 12 12.90 TAB1 0 genome.wustl.edu 37 22 39811644 39811644 + Missense_Mutation SNP C C T TCGA-3B-A9I3-01A-11D-A38Z-09 TCGA-3B-A9I3-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f6e1ec5e-069a-468e-86f6-24657fdeff5a 1fdd19d3-2a91-411e-b3aa-e425aa45b4ce 22 39811644 39811644 C T SNP TAB1 ENST00000216160 human ensembl 74_37 +1 known missense c.310 p.R104C 0.849 pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors TAB1 HGNC ENSG00000100324 tier1 - - 133 0 0.00 27 8 22.86 21 0 0.00 20 7 25.93 WNT10B 0 genome.wustl.edu 37 12 49360194 49360194 + Missense_Mutation SNP A A T TCGA-3B-A9I3-01A-11D-A38Z-09 TCGA-3B-A9I3-10A-01D-A38Z-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f6e1ec5e-069a-468e-86f6-24657fdeff5a 1fdd19d3-2a91-411e-b3aa-e425aa45b4ce 12 49360194 49360194 A T SNP WNT10B ENST00000301061 human ensembl 74_37 -1 known missense c.854 p.I285N 0.991 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt10 - no_errors WNT10B HGNC ENSG00000169884 tier1 - - 349 1 0.29 153 24 13.56 76 0 0.00 40 11 21.57 VANGL1 0 genome.wustl.edu 37 1 116206547 116206547 + Missense_Mutation SNP C C T TCGA-3B-A9I3-01A-11D-A38Z-09 TCGA-3B-A9I3-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f6e1ec5e-069a-468e-86f6-24657fdeff5a 1fdd19d3-2a91-411e-b3aa-e425aa45b4ce 1 116206547 116206547 C T SNP VANGL1 ENST00000310260 human ensembl 74_37 +1 known missense c.470 p.A157V 0.987 pfam_Strabismus,pirsf_Strabismus pfam_Strabismus,pirsf_Strabismus - no_errors VANGL1 HGNC ENSG00000173218 tier1 - - 94 0 0.00 95 21 18.10 65 0 0.00 122 26 17.57 MOSPD2 0 genome.wustl.edu 37 X 14933790 14933790 + Missense_Mutation SNP G G A TCGA-3B-A9I3-01A-11D-A38Z-09 TCGA-3B-A9I3-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f6e1ec5e-069a-468e-86f6-24657fdeff5a 1fdd19d3-2a91-411e-b3aa-e425aa45b4ce X 14933790 14933790 G A SNP MOSPD2 ENST00000380492 human ensembl 74_37 +1 known missense c.1090 p.V364M 1.000 pfam_MSP_dom,superfamily_PapD-like,pfscan_MSP_dom pfam_CRAL-TRIO_dom,pfam_MSP_dom,superfamily_CRAL-TRIO_dom,superfamily_PapD-like,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_MSP_dom - no_errors MOSPD2 HGNC ENSG00000130150 tier1 - - 19 0 0.00 37 33 47.14 16 0 0.00 34 16 32.00 KANSL1L 0 genome.wustl.edu 37 2 210892036 210892036 + Missense_Mutation SNP T T C TCGA-3B-A9I3-01A-11D-A38Z-09 TCGA-3B-A9I3-10A-01D-A38Z-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f6e1ec5e-069a-468e-86f6-24657fdeff5a 1fdd19d3-2a91-411e-b3aa-e425aa45b4ce 2 210892036 210892036 T C SNP KANSL1L ENST00000281772 human ensembl 74_37 -1 known missense c.2435 p.N812S 0.002 NULL NULL - no_errors KANSL1L HGNC ENSG00000144445 tier1 - - 48 0 0.00 85 13 13.27 82 0 0.00 108 26 19.40 RB1 0 genome.wustl.edu 37 13 49050980 49050980 + Splice_Site SNP G G A TCGA-3B-A9I3-01A-11D-A38Z-09 TCGA-3B-A9I3-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f6e1ec5e-069a-468e-86f6-24657fdeff5a 1fdd19d3-2a91-411e-b3aa-e425aa45b4ce 13 49050980 49050980 G A SNP RB1 ENST00000267163 human ensembl 74_37 +1 known splice_site c.2663+1 e25+1 1.000 - - - no_errors RB1 HGNC ENSG00000139687 tier1 - - 32 0 0.00 87 21 19.44 19 0 0.00 78 26 25.00 ANKRD36BP2 0 genome.wustl.edu 37 2 89084352 89084352 + R SNP T T A TCGA-3B-A9I3-01A-11D-A38Z-09 TCGA-3B-A9I3-10A-01D-A38Z-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f6e1ec5e-069a-468e-86f6-24657fdeff5a 1fdd19d3-2a91-411e-b3aa-e425aa45b4ce 2 89084352 89084352 T A SNP ANKRD36BP2 ENST00000393515 human ensembl 74_37 +1 known rna NULL NULL 0.014 - - - no_errors ANKRD36BP2 HGNC ENSG00000230006 tier1 - - 26 0 0.00 101 30 22.90 7 0 0.00 38 7 15.56 CTSK 0 genome.wustl.edu 37 1 150772185 150772185 + Missense_Mutation SNP C C T TCGA-3B-A9I3-01A-11D-A38Z-09 TCGA-3B-A9I3-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f6e1ec5e-069a-468e-86f6-24657fdeff5a 1fdd19d3-2a91-411e-b3aa-e425aa45b4ce 1 150772185 150772185 C T SNP CTSK ENST00000271651 human ensembl 74_37 -1 known missense c.619 p.E207K 1.000 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,pfam_Peptidase_C1B,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSK HGNC ENSG00000143387 tier1 - - 34 0 0.00 56 14 20.00 43 0 0.00 70 16 18.60 RASA3 0 genome.wustl.edu 37 13 114773080 114773080 + Missense_Mutation SNP G G C TCGA-3B-A9I3-01A-11D-A38Z-09 TCGA-3B-A9I3-10A-01D-A38Z-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f6e1ec5e-069a-468e-86f6-24657fdeff5a 1fdd19d3-2a91-411e-b3aa-e425aa45b4ce 13 114773080 114773080 G C SNP RASA3 ENST00000334062 human ensembl 74_37 -1 known missense c.1671 p.F557L 0.997 superfamily_Rho_GTPase_activation_prot,smart_RasGAP pfam_RasGAP,pfam_C2_dom,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_C2_dom,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP,prints_Znf_Btk_motif - no_errors RASA3 HGNC ENSG00000185989 tier1 - - 82 0 0.00 29 9 23.68 119 0 0.00 56 15 21.13 ABCG1 0 genome.wustl.edu 37 21 43711222 43711222 + Missense_Mutation SNP T T A TCGA-3B-A9I3-01A-11D-A38Z-09 TCGA-3B-A9I3-10A-01D-A38Z-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f6e1ec5e-069a-468e-86f6-24657fdeff5a 1fdd19d3-2a91-411e-b3aa-e425aa45b4ce 21 43711222 43711222 T A SNP ABCG1 ENST00000398437 human ensembl 74_37 +1 known missense c.1888 p.F630I 0.997 pfam_ABC_2_trans,tigrfam_Pigment_permease pfam_ABC_2_trans,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Pigment_permease - no_errors ABCG1 HGNC ENSG00000160179 tier1 - - 74 0 0.00 58 13 18.31 97 0 0.00 84 17 16.83 ABCC1 0 genome.wustl.edu 37 16 16205244 16205244 + Missense_Mutation SNP G G A TCGA-3B-A9I3-01A-11D-A38Z-09 TCGA-3B-A9I3-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f6e1ec5e-069a-468e-86f6-24657fdeff5a 1fdd19d3-2a91-411e-b3aa-e425aa45b4ce 16 16205244 16205244 G A SNP ABCC1 ENST00000399408 human ensembl 74_37 +1 known missense c.2914 p.V972M 0.997 superfamily_ABC1_TM_dom,tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc - no_errors ABCC1 HGNC ENSG00000103222 tier1 - - 48 0 0.00 48 6 11.11 76 0 0.00 85 22 20.56 FREM2 0 genome.wustl.edu 37 13 39265091 39265091 + Missense_Mutation SNP A A C TCGA-3B-A9I3-01A-11D-A38Z-09 TCGA-3B-A9I3-10A-01D-A38Z-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f6e1ec5e-069a-468e-86f6-24657fdeff5a 1fdd19d3-2a91-411e-b3aa-e425aa45b4ce 13 39265091 39265091 A C SNP FREM2 ENST00000280481 human ensembl 74_37 +1 known missense c.3610 p.M1204L 1.000 superfamily_Cadherin-like pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 tier1 - - 19 0 0.00 33 18 35.29 34 0 0.00 61 15 19.74 RAD21L1 0 genome.wustl.edu 37 20 1212265 1212265 + Splice_Site SNP T T A TCGA-3B-A9I3-01A-11D-A38Z-09 TCGA-3B-A9I3-10A-01D-A38Z-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f6e1ec5e-069a-468e-86f6-24657fdeff5a 1fdd19d3-2a91-411e-b3aa-e425aa45b4ce 20 1212265 1212265 T A SNP RAD21L1 ENST00000409241 human ensembl 74_37 +1 known splice_site c.368+2 e3+2 1.000 - - - no_errors RAD21L1 HGNC ENSG00000244588 tier1 - - 8 0 0.00 30 6 16.67 10 0 0.00 29 5 14.71 LOXHD1 0 genome.wustl.edu 37 18 44173692 44173692 + Silent SNP G G A TCGA-3B-A9I3-01A-11D-A38Z-09 TCGA-3B-A9I3-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f6e1ec5e-069a-468e-86f6-24657fdeff5a 1fdd19d3-2a91-411e-b3aa-e425aa45b4ce 18 44173692 44173692 G A SNP LOXHD1 ENST00000536736 human ensembl 74_37 -1 known silent c.1302 p.T434 0.452 pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom - no_errors LOXHD1 HGNC ENSG00000167210 tier1 - - 15 0 0.00 74 16 17.58 35 0 0.00 83 24 22.43 PKNOX2 0 genome.wustl.edu 37 11 125221274 125221274 + Missense_Mutation SNP C C A TCGA-3B-A9I3-01A-11D-A38Z-09 TCGA-3B-A9I3-10A-01D-A38Z-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f6e1ec5e-069a-468e-86f6-24657fdeff5a 1fdd19d3-2a91-411e-b3aa-e425aa45b4ce 11 125221274 125221274 C A SNP PKNOX2 ENST00000298282 human ensembl 74_37 +1 known missense c.73 p.Q25K 1.000 NULL pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors PKNOX2 HGNC ENSG00000165495 tier1 - - 31 0 0.00 13 5 27.78 29 0 0.00 14 4 22.22 TP53 0 genome.wustl.edu 37 17 7578406 7578406 + Missense_Mutation SNP C C T TCGA-3B-A9I3-01A-11D-A38Z-09 TCGA-3B-A9I3-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f6e1ec5e-069a-468e-86f6-24657fdeff5a 1fdd19d3-2a91-411e-b3aa-e425aa45b4ce 17 7578406 7578406 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.524 p.R175H 1.000 pfam_p53_D-bd,superfamily_p53-like_TF_D-bd,prints_p53_tumour_suppressor pfam_p53_D-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_D-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 rs28934578 - 63 0 0.00 19 7 26.92 73 0 0.00 34 17 33.33 CDHR1 0 genome.wustl.edu 37 10 85978986 85978986 + Missense_Mutation SNP T T A TCGA-3B-A9I3-01A-11D-A38Z-09 TCGA-3B-A9I3-10A-01D-A38Z-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f6e1ec5e-069a-468e-86f6-24657fdeff5a 1fdd19d3-2a91-411e-b3aa-e425aa45b4ce 10 85978986 85978986 T A SNP CDHR1 ENST00000332904 human ensembl 74_37 +1 known missense c.2192 p.V731E 0.001 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR1 HGNC ENSG00000148600 tier1 - - 67 0 0.00 75 22 22.68 63 0 0.00 113 33 22.60 ARHGEF11 0 genome.wustl.edu 37 1 156909248 156909248 + R SNP G G A TCGA-3B-A9I3-01A-11D-A38Z-09 TCGA-3B-A9I3-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f6e1ec5e-069a-468e-86f6-24657fdeff5a 1fdd19d3-2a91-411e-b3aa-e425aa45b4ce 1 156909248 156909248 G A SNP ARHGEF11 ENST00000487682 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ARHGEF11 HGNC ENSG00000132694 tier1 - - 28 0 0.00 29 11 27.50 94 0 0.00 136 38 21.84 TICAM1 0 genome.wustl.edu 37 19 4816340 4816340 + Missense_Mutation SNP C C T TCGA-3B-A9I3-01A-11D-A38Z-09 TCGA-3B-A9I3-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f6e1ec5e-069a-468e-86f6-24657fdeff5a 1fdd19d3-2a91-411e-b3aa-e425aa45b4ce 19 4816340 4816340 C T SNP TICAM1 ENST00000248244 human ensembl 74_37 -1 known missense c.2050 p.A684T 0.704 pirsf_TICAM1 superfamily_TIR_dom,pirsf_TICAM1 - no_errors TICAM1 HGNC ENSG00000127666 tier1 - - 64 0 0.00 58 10 14.71 93 0 0.00 54 21 28.00 EHBP1 0 genome.wustl.edu 37 2 63220800 63220800 + Missense_Mutation SNP C C G TCGA-3B-A9I3-01A-11D-A38Z-09 TCGA-3B-A9I3-10A-01D-A38Z-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f6e1ec5e-069a-468e-86f6-24657fdeff5a 1fdd19d3-2a91-411e-b3aa-e425aa45b4ce 2 63220800 63220800 C G SNP EHBP1 ENST00000263991 human ensembl 74_37 +1 known missense c.3082 p.P1028A 1.000 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors EHBP1 HGNC ENSG00000115504 tier1 - - 14 0 0.00 35 14 28.57 15 0 0.00 84 21 20.00 RASSF6 0 genome.wustl.edu 37 4 74481640 74481640 + Missense_Mutation SNP A A G TCGA-3B-A9I3-01A-11D-A38Z-09 TCGA-3B-A9I3-10A-01D-A38Z-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f6e1ec5e-069a-468e-86f6-24657fdeff5a 1fdd19d3-2a91-411e-b3aa-e425aa45b4ce 4 74481640 74481640 A G SNP RASSF6 ENST00000335049 human ensembl 74_37 -1 known missense c.76 p.S26P 0.001 NULL pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH_dom - no_errors RASSF6 HGNC ENSG00000169435 tier1 - - 36 0 0.00 78 29 27.10 29 0 0.00 130 18 12.00 S100A7 0 genome.wustl.edu 37 1 153430303 153430303 + Silent SNP G G A TCGA-3B-A9I3-01A-11D-A38Z-09 TCGA-3B-A9I3-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f6e1ec5e-069a-468e-86f6-24657fdeff5a 1fdd19d3-2a91-411e-b3aa-e425aa45b4ce 1 153430303 153430303 G A SNP S100A7 ENST00000368722 human ensembl 74_37 -1 known silent c.285 p.P95 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors S100A7 HGNC ENSG00000143556 tier1 - - 43 0 0.00 49 6 10.71 9 0 0.00 20 9 31.03 ZC3H3 0 genome.wustl.edu 37 8 144621417 144621417 + Silent SNP C C T TCGA-3B-A9I3-01A-11D-A38Z-09 TCGA-3B-A9I3-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f6e1ec5e-069a-468e-86f6-24657fdeff5a 1fdd19d3-2a91-411e-b3aa-e425aa45b4ce 8 144621417 144621417 C T SNP ZC3H3 ENST00000262577 human ensembl 74_37 -1 known silent c.120 p.Q40 0.994 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H3 HGNC ENSG00000014164 tier1 - - 80 0 0.00 45 18 28.57 75 0 0.00 67 10 12.99 KIF1B 0 genome.wustl.edu 37 1 10423402 10423402 + Missense_Mutation SNP G G A TCGA-3B-A9I3-01A-11D-A38Z-09 TCGA-3B-A9I3-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f6e1ec5e-069a-468e-86f6-24657fdeff5a 1fdd19d3-2a91-411e-b3aa-e425aa45b4ce 1 10423402 10423402 G A SNP KIF1B ENST00000263934 human ensembl 74_37 +1 known missense c.4228 p.G1410S 1.000 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1B HGNC ENSG00000054523 tier1 - - 61 0 0.00 82 17 17.17 63 0 0.00 114 27 19.15 REG1P 0 genome.wustl.edu 37 2 79364441 79364441 + R SNP T T C TCGA-3B-A9I3-01A-11D-A38Z-09 TCGA-3B-A9I3-10A-01D-A38Z-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f6e1ec5e-069a-468e-86f6-24657fdeff5a 1fdd19d3-2a91-411e-b3aa-e425aa45b4ce 2 79364441 79364441 T C SNP REG1P ENST00000377435 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors REG1P HGNC ENSG00000204787 tier1 - - 35 0 0.00 57 18 24.00 31 0 0.00 69 22 24.18 CCDC127 0 genome.wustl.edu 37 5 216901 216901 + Missense_Mutation SNP C C T TCGA-3B-A9I3-01A-11D-A38Z-09 TCGA-3B-A9I3-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f6e1ec5e-069a-468e-86f6-24657fdeff5a 1fdd19d3-2a91-411e-b3aa-e425aa45b4ce 5 216901 216901 C T SNP CCDC127 ENST00000296824 human ensembl 74_37 -1 known missense c.64 p.D22N 1.000 NULL NULL - no_errors CCDC127 HGNC ENSG00000164366 tier1 - - 107 0 0.00 82 18 18.00 72 0 0.00 55 16 22.54 PCDH15 0 genome.wustl.edu 37 10 55568823 55568823 + Missense_Mutation SNP T T C TCGA-3B-A9I3-01A-11D-A38Z-09 TCGA-3B-A9I3-10A-01D-A38Z-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f6e1ec5e-069a-468e-86f6-24657fdeff5a 1fdd19d3-2a91-411e-b3aa-e425aa45b4ce 10 55568823 55568823 T C SNP PCDH15 ENST00000395445 human ensembl 74_37 -1 novel missense c.4987 p.R1663G 0.701 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 tier1 - - 10 0 0.00 23 5 17.24 43 0 0.00 99 40 28.78 UNKL 0 genome.wustl.edu 37 16 1444442 1444442 + Nonsense_Mutation SNP C C A TCGA-3B-A9I3-01A-11D-A38Z-09 TCGA-3B-A9I3-10A-01D-A38Z-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f6e1ec5e-069a-468e-86f6-24657fdeff5a 1fdd19d3-2a91-411e-b3aa-e425aa45b4ce 16 1444442 1444442 C A SNP UNKL ENST00000397462 human ensembl 74_37 -1 known nonsense c.1384 p.G462* 0.001 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors UNKL HGNC ENSG00000059145 tier1 - - 65 0 0.00 23 8 25.81 86 0 0.00 59 21 26.25 CAC1S 0 genome.wustl.edu 37 1 201044742 201044742 + Missense_Mutation SNP A A G TCGA-3B-A9I3-01A-11D-A38Z-09 TCGA-3B-A9I3-10A-01D-A38Z-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f6e1ec5e-069a-468e-86f6-24657fdeff5a 1fdd19d3-2a91-411e-b3aa-e425aa45b4ce 1 201044742 201044742 A G SNP CAC1S ENST00000362061 human ensembl 74_37 -1 known missense c.1829 p.V610A 1.000 pfam_Ion_trans_dom,prints_VDCCAlpha1 pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu - no_errors CAC1S HGNC ENSG00000081248 tier1 - - 28 0 0.00 66 9 12.00 55 0 0.00 112 8 6.67 C9orf78 0 genome.wustl.edu 37 9 132597501 132597501 + R SNP G G C TCGA-3B-A9I3-01A-11D-A38Z-09 TCGA-3B-A9I3-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6e1ec5e-069a-468e-86f6-24657fdeff5a 1fdd19d3-2a91-411e-b3aa-e425aa45b4ce 9 132597501 132597501 G C SNP C9orf78 ENST00000461349 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors C9orf78 HGNC ENSG00000136819 tier1 - - 83 0 0.00 23 13 35.14 13 0 0.00 5 0 0.00 MATN4 0 genome.wustl.edu 37 20 43926658 43926658 + Silent SNP G G A TCGA-3B-A9I3-01A-11D-A38Z-09 TCGA-3B-A9I3-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6e1ec5e-069a-468e-86f6-24657fdeff5a 1fdd19d3-2a91-411e-b3aa-e425aa45b4ce 20 43926658 43926658 G A SNP MATN4 ENST00000372754 human ensembl 74_37 -1 known silent c.1602 p.R534 0.003 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_EGF-like_Ca-bd_dom,pfam_Matrilin_coiled-coil_trimer,smart_VWF_A,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_VWF_A - no_errors MATN4 HGNC ENSG00000124159 tier1 - - 68 0 0.00 34 11 23.91 10 0 0.00 6 0 0.00 PPP1R16A 0 genome.wustl.edu 37 8 145725733 145725733 + Missense_Mutation SNP G G A TCGA-3B-A9I3-01A-11D-A38Z-09 TCGA-3B-A9I3-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6e1ec5e-069a-468e-86f6-24657fdeff5a 1fdd19d3-2a91-411e-b3aa-e425aa45b4ce 8 145725733 145725733 G A SNP PPP1R16A ENST00000292539 human ensembl 74_37 +1 known missense c.664 p.G222R 0.998 superfamily_Ankyrin_rpt-contain_dom,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors PPP1R16A HGNC ENSG00000160972 tier1 - - 25 0 0.00 13 7 33.33 3 0 0.00 0 2 100.00 ZNF407 0 genome.wustl.edu 37 18 72776361 72776361 + Missense_Mutation SNP G G T TCGA-3B-A9I3-01A-11D-A38Z-09 TCGA-3B-A9I3-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6e1ec5e-069a-468e-86f6-24657fdeff5a 1fdd19d3-2a91-411e-b3aa-e425aa45b4ce 18 72776361 72776361 G T SNP ZNF407 ENST00000299687 human ensembl 74_37 +1 known missense c.6684 p.E2228D 0.956 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_U1,pfscan_Znf_C2H2 - no_errors ZNF407 HGNC ENSG00000215421 tier1 - - 187 0 0.00 72 10 12.20 41 0 0.00 21 2 8.70 ENSG00000215953 0 genome.wustl.edu 37 5 84823865 84823870 + R DEL TGTGTG TGTGTG - TCGA-3B-A9I3-01A-11D-A38Z-09 TCGA-3B-A9I3-10A-01D-A38Z-09 TGTGTG TGTGTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6e1ec5e-069a-468e-86f6-24657fdeff5a 1fdd19d3-2a91-411e-b3aa-e425aa45b4ce 5 84823865 84823870 TGTGTG - DEL ENSG00000215953 ENST00000401134 human ensembl 74_37 -1 novel rna NULL NULL 0.004:0.002:0.002:0.001:0.001:0.001 - - - no_errors AC026700.1 Clone_based_ensembl_gene ENSG00000215953 tier1 16 0 0.00 36 2 5.26 16 0 0.00 36 2 5.26