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 transcript_name strand transcript_status amino_acid_change ucsc_cons normal_depth normal_vaf tumor_depth tumor_vaf rna_depth rna_vaf polyphen sift condel domain RPL22 6146 ucsc.edu 37 1 6257785 6257785 + Frame_Shift_Del DEL T - - novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_000983.3 -1 reviewed p.K15fs 1 - - - - - - - - - HMMPfam_Ribosomal_L22e VPS13D 55187 genome.wustl.edu 37 1 12393358 12393358 + Missense_Mutation SNP C C A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_015378.2 +1 reviewed p.P2788H 1.000 282 0% 82 28% 1 0% benign(0.116) tolerated(0.11) neutral(0.281) NULL ZBTB40 9923 genome.wustl.edu 37 1 22816705 22816705 + Silent SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_001083621.1 +1 validated p.H88 1.000 235 0% 70 35.7% 0 - - - - HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB EPHB2 2048 genome.wustl.edu 37 1 23222908 23222908 + Missense_Mutation SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_004442.6 +1 reviewed p.R569W 1.000 154 0% 31 25.8% 0 - probably_damaging(0.992) deleterious(0.01) deleterious(0.853) NULL NIPAL3 57185 genome.wustl.edu 37 1 24779932 24779932 + Missense_Mutation SNP A A G novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_020448.4 +1 validated p.Y192C 1.000 324 0% 129 11.6% 2 0% probably_damaging(0.998) deleterious(0.03) deleterious(0.839) HMMPfam_DUF803 ARID1A 8289 genome.wustl.edu 37 1 27097630 27097630 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_006015.4 +1 reviewed p.W1073* 1.000 211 0% 63 14.3% 10 0% - - - HMMPfam_ARID,HMMSmart_SM00501,superfamily_ARID-like KIAA0319L 79932 genome.wustl.edu 37 1 35913887 35913887 + Silent SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_024874.4 -1 reviewed p.V800 1.000 334 0% 44 18.2% 16 0% - - - NULL EPHA10 284656 genome.wustl.edu 37 1 38227511 38227511 + Missense_Mutation SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_001099439.1 -1 validated p.R139H 0.340 38 0% 11 36.4% 0 - benign(0) deleterious(0.05) neutral(0.345) HMMPfam_Ephrin_lbd,HMMSmart_SM00615,superfamily_Galactose-binding domain-like ZMYND12 84217 genome.wustl.edu 37 1 42896510 42896510 + Missense_Mutation SNP C C A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_032257.4 -1 validated p.R332M 0.003 575 0% 242 31% 16 56.2% possibly_damaging(0.662) deleterious(0) deleterious(0.678) superfamily_TPR-like CDC20 991 genome.wustl.edu 37 1 43825703 43825703 + Missense_Mutation SNP C C A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_001255.2 +1 reviewed p.T164N 0.974 195 0% 24 29.2% 37 37.8% benign(0.001) tolerated(0.61) neutral(0.004) superfamily_WD40_like SLC6A9 6536 genome.wustl.edu 37 1 44476479 44476479 + Splice_Site SNP A A G novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b ENST00000475075 -1 known NULL 1.000 421 0% 41 14.6% 1 0% - - - - CPT2 1376 genome.wustl.edu 37 1 53676593 53676593 + Missense_Mutation SNP A A T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_000098.2 +1 reviewed p.N416I 0.025 200 0% 60 11.7% 23 4.3% benign(0.067) deleterious(0.04) neutral(0.353) HMMPfam_Carn_acyltransf,superfamily_CoA-dependent acyltransferases LRP8 7804 genome.wustl.edu 37 1 53732242 53732242 + Missense_Mutation SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_004631.3 -1 reviewed p.R444C 0.992 290 0% 81 17.3% 0 - probably_damaging(0.998) deleterious(0.03) deleterious(0.839) HMMSmart_SM00135,superfamily_YWTD domain LRRC7 57554 genome.wustl.edu 37 1 70493872 70493872 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_020794.2 +1 validated p.R567* 1.000 282 0% 97 22.7% 0 - - - - NULL ST6GALNAC3 256435 genome.wustl.edu 37 1 76877984 76877984 + Missense_Mutation SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_152996.2 +1 validated p.V169I 0.998 281 0.4% 170 12.4% 1 100% benign(0.037) tolerated(0.13) neutral(0.255) HMMPfam_Glyco_transf_29 COL24A1 255631 genome.wustl.edu 37 1 86591614 86591614 + Silent SNP T T C novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_152890.5 -1 validated p.V135 0.002 157 0% 95 11.6% 0 - - - - HMMSmart_SM00210,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 SASS6 163786 genome.wustl.edu 37 1 100585950 100585950 + Missense_Mutation SNP C C A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_194292.1 -1 validated p.K183N 1.000 501 0% 191 12% 1 0% benign(0.174) tolerated(0.21) neutral(0.060) NULL VCAM1 7412 genome.wustl.edu 37 1 101200106 101200108 + In_Frame_Del DEL AAG AAG - novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 AAG AAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_001078.2 +1 reviewed p.E615in_frame_del 0.539:0.559:0.992 - - - - - - - - - HMMSmart_SM00408,HMMSmart_SM00409,superfamily_Immunoglobulin CHIA 27159 genome.wustl.edu 37 1 111860623 111860623 + Silent SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b ENST00000430615 +1 known p.S137F 1.000 284 0% 116 31.9% 0 - - - - HMMPfam_Glyco_hydro_18,HMMSmart_SM00636,superfamily_(Trans)glycosidases TRIM45 80263 genome.wustl.edu 37 1 117660749 117660751 + In_Frame_Del DEL GAG GAG - novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 GAG GAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_025188.3 -1 reviewed p.P376in_frame_del 0.123:0.066:0.917 - - - - - - - - - NULL HMGCS2 3158 genome.wustl.edu 37 1 120311427 120311427 + Missense_Mutation SNP A A G novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_005518.3 -1 reviewed p.L14P 0.003 168 0% 82 13.4% 0 - benign(0.006) deleterious(0) neutral(0.445) NULL RFX5 5993 genome.wustl.edu 37 1 151316273 151316273 + Missense_Mutation SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_000449.3 -1 reviewed p.R214Q 1.000 111 0% 50 20% 37 2.7% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL MRPL9 65005 genome.wustl.edu 37 1 151734931 151734931 + Missense_Mutation SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_031420.2 -1 reviewed p.G119D 0.996 424 0% 228 14% 56 16% probably_damaging(1) deleterious(0.02) deleterious(0.883) superfamily_L9 N-domain-like,HMMPfam_Ribosomal_L9_N OAZ3 51686 genome.wustl.edu 37 1 151742669 151742669 + Silent SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b ENST00000453029 +1 known p.R92C 0.727 585 0% 210 11.4% 8 0% - - - HMMPfam_ODC_AZ,PatternScan_ODC_AZ RORC 6097 genome.wustl.edu 37 1 151787534 151787534 + Silent SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_005060.3 -1 reviewed p.S222 1.000 131 0% 35 17.1% 28 10.7% - - - NULL INTS3 65123 genome.wustl.edu 37 1 153719802 153719802 + Silent SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_023015.3 +1 validated p.A160 0.111 1370 0% 770 12.2% 17 11.7% - - - NULL ARHGEF2 9181 genome.wustl.edu 37 1 155932403 155932403 + Missense_Mutation SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_004723.3 -1 validated p.R333H 1.000 239 0% 39 15.4% 25 12% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) SEMA4A 64218 genome.wustl.edu 37 1 156132762 156132762 + Silent SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_022367.2 +1 provisional p.A337 0.916 399 0% 164 12.8% 9 11.1% - - - HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema FCRL3 115352 genome.wustl.edu 37 1 157667174 157667174 + Silent SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_052939.3 -1 reviewed p.T200 0.010 171 0% 72 15.3% 2 0% - - - HMMSmart_SM00409,superfamily_Immunoglobulin KIRREL 55243 genome.wustl.edu 37 1 158064850 158064850 + Silent SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_018240.5 +1 validated p.Y738 1.000 109 0% 18 22.2% 1 0% - - - NULL PAPPA2 60676 genome.wustl.edu 37 1 176564317 176564317 + Missense_Mutation SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_020318.2 +1 validated p.R526H 1.000 144 0% 51 27.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) "superfamily_Metalloproteases (""zincins"") catalytic domain" CACNA1E 777 genome.wustl.edu 37 1 181690940 181690940 + Missense_Mutation SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_000721.2 +1 reviewed p.R668H 1.000 463 0% 95 20% 0 - probably_damaging(0.999) deleterious(0.03) deleterious(0.855) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels RGS16 6004 genome.wustl.edu 37 1 182569517 182569517 + Silent SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_002928.3 -1 reviewed p.K173 0.999 161 0% 44 15.9% 12 8.3% - - - HMMPfam_RGS,HMMSmart_SM00315,superfamily_Regulator of G-protein signaling RGS C1orf53 388722 genome.wustl.edu 37 1 197874930 197874930 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b ENST00000436652 +1 known p.W26* 1.000 267 0% 129 14.7% 11 45.4% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL TNNT2 7139 genome.wustl.edu 37 1 201334419 201334419 + Missense_Mutation SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_000364.2 -1 reviewed p.R104H 1.000 192 0% 65 15.4% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Troponin DTL 51514 genome.wustl.edu 37 1 212273607 212273607 + Silent SNP T T C novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_016448.2 +1 validated p.S425 0.140 315 0% 153 16.3% 7 0% - - - NULL ANGEL2 90806 genome.wustl.edu 37 1 213178560 213178560 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_144567.3 -1 validated p.R317* 1.000 315 0% 135 11.9% 10 0% - - - HMMPfam_Exo_endo_phos,superfamily_DNase I-like CENPF 1063 genome.wustl.edu 37 1 214825218 214825221 + Frame_Shift_Del DEL ACAA ACAA - novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 ACAA ACAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_016343.3 +1 reviewed p.K2719fs 0.010:0.036:0.066:0.216 - - - - - - - - - NULL C1orf198 84886 genome.wustl.edu 37 1 230979199 230979199 + Silent SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_032800.2 -1 validated p.H276 0.000 145 0% 61 18% 14 14.2% - - - NULL SIPA1L2 57568 genome.wustl.edu 37 1 232577529 232577529 + Missense_Mutation SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_020808.3 -1 validated p.A1175T 0.943 231 0% 60 11.7% 9 22.2% benign(0) tolerated(0.58) neutral(0.005) NULL ARID4B 51742 genome.wustl.edu 37 1 235345287 235345287 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_016374.5 -1 reviewed p.E983* 0.996 276 0% 126 18.3% 5 0% - - - NULL GNG4 2786 genome.wustl.edu 37 1 235715489 235715489 + Missense_Mutation SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_001098721.1 -1 validated p.R50W 0.021 244 0% 68 11.8% 0 - probably_damaging(0.972) deleterious(0.03) deleterious(0.778) HMMPfam_G-gamma,HMMSmart_SM00224,superfamily_Transducin (heterotrimeric G protein) gamma chain OR14A16 284532 genome.wustl.edu 37 1 247978913 247978913 + Missense_Mutation SNP T T C novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_001001966.1 -1 provisional p.N40S 0.871 335 0% 278 12.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_SSF81321 OR2T33 391195 genome.wustl.edu 37 1 248436359 248436359 + Missense_Mutation SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_001004695.1 -1 provisional p.A253V 0.003 756 0.1% 309 10.4% 0 - benign(0.211) tolerated(0.07) neutral(0.340) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR2T6 254879 genome.wustl.edu 37 1 248551673 248551673 + Missense_Mutation SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_001005471.1 +1 provisional p.A255V 0.104 636 0% 109 12.8% 0 - probably_damaging(1) tolerated(0.08) deleterious(0.800) HMMPfam_7tm_1,superfamily_SSF81321 ASAP2 8853 genome.wustl.edu 37 2 9528628 9528628 + Missense_Mutation SNP C C A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_003887.2 +1 reviewed p.P779H 0.994 65 0% 15 40% 4 0% possibly_damaging(0.462) tolerated(0.07) deleterious(0.471) NULL ENSG00000181250 0 genome.wustl.edu 37 2 33952585 33952585 + Silent SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b ENST00000322472 -1 known p.G86 0.987 67 0% 25 20% 0 - - - - NULL STRN 6801 genome.wustl.edu 37 2 37076644 37076644 + Nonsense_Mutation SNP A A C novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_003162.2 -1 validated p.Y766* 1.000 284 0% 84 14.3% 6 50% - - - HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 NRXN1 9378 genome.wustl.edu 37 2 50758559 50758559 + Missense_Mutation SNP A A C novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_001135659.1 -1 reviewed p.V758G 1.000 98 0% 31 19.4% 0 - possibly_damaging(0.946) deleterious(0.01) deleterious(0.796) superfamily_ConA_like_lec_gl ERLEC1 27248 genome.wustl.edu 37 2 54042066 54042066 + Silent SNP T T C novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_015701.3 +1 validated p.I458 1.000 339 0% 154 24.7% 27 25.9% - - - superfamily_Mannose 6-phosphate receptor domain CLEC4F 165530 genome.wustl.edu 37 2 71044150 71044150 + Silent SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_173535.2 -1 validated p.I121 0.976 282 0% 26 23.1% 0 - - - - NULL SEMA4F 10505 genome.wustl.edu 37 2 74884722 74884722 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_004263.3 +1 provisional p.Q110* 1.000 488 0% 179 17.9% 2 0% - - - HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain C2orf89 129293 genome.wustl.edu 37 2 85051249 85051249 + Missense_Mutation SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_001080824.1 -1 predicted p.A339T 0.001 391 0% 69 10.1% 1 0% benign(0) tolerated(0.74) neutral(0.002) NULL INPP4A 3631 genome.wustl.edu 37 2 99185084 99185084 + Missense_Mutation SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_001134224.1 +1 reviewed p.R829Q 1.000 748 0% 179 15.6% 4 0% probably_damaging(0.999) deleterious(0.04) deleterious(0.839) NULL ENSG00000251207 0 genome.wustl.edu 37 2 114416191 114416191 + RNA SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b ENST00000514936 -1 novel NULL 0.126 380 0% 140 13.6% 0 - - - - - PTPN4 5775 genome.wustl.edu 37 2 120734587 120734587 + Missense_Mutation SNP A A G novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_002830.2 +1 reviewed p.I908V 1.000 313 0% 103 20.4% 7 42.8% benign(0.038) tolerated(0.21) neutral(0.046) HMMPfam_Y_phosphatase,HMMSmart_PTPc,superfamily_SSF52799 STAM2 10254 genome.wustl.edu 37 2 153004587 153004587 + Missense_Mutation SNP A A G novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_005843.4 -1 reviewed p.V84A 1.000 85 0% 29 13.8% 6 50% probably_damaging(0.966) deleterious(0) deleterious(0.853) HMMPfam_VHS,superfamily_ENTH/VHS domain,HMMSmart_SM00288 UPP2 151531 genome.wustl.edu 37 2 158980318 158980318 + Missense_Mutation SNP A A G novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_001135098.1 +1 validated p.Y298C 1.000 325 0% 172 15.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PNP_UDP_1,superfamily_Purine and uridine phosphorylases FAP 2191 genome.wustl.edu 37 2 163055345 163055345 + Missense_Mutation SNP G G T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_004460.2 -1 reviewed p.H442N 0.999 461 0% 159 13.8% 1 0% benign(0) tolerated(1) - HMMPfam_DPPIV_N,superfamily_SSF82171 C2orf77 129881 genome.wustl.edu 37 2 170537620 170537620 + Missense_Mutation SNP C C A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_001085447.1 -1 validated p.R64M 0.147 579 0% 228 18.9% 4 0% benign(0.261) deleterious(0.02) neutral(0.410) NULL ZAK 51776 genome.wustl.edu 37 2 174130844 174130844 + Missense_Mutation SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_016653.2 +1 reviewed p.R590H 0.998 222 0% 67 16.4% 8 37.5% benign(0.001) tolerated(0.31) neutral(0.027) NULL TTN 7273 genome.wustl.edu 37 2 179463706 179463706 + Missense_Mutation SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b ENST00000356127 -1 known p.D16341N 1.000 225 0% 89 15.7% 0 - benign(0.29) - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179632620 179632620 + Missense_Mutation SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_133379.3 -1 reviewed p.R3113C 1.000 261 0% 74 18.9% 0 - possibly_damaging(0.535) - - HMMSmart_IG,HMMPfam_I-set,superfamily_SSF48726 GLS 2744 genome.wustl.edu 37 2 191788704 191788706 + In_Frame_Del DEL AAG AAG - novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 AAG AAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_014905.3 +1 validated p.K399in_frame_del 1.000:1.000:1.000 - - - - - - - - - superfamily_beta-lactamase/transpeptidase-like,HMMPfam_Glutaminase SF3B1 23451 genome.wustl.edu 37 2 198263270 198263270 + Silent SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_012433.2 -1 reviewed p.L1017 1.000 527 0% 183 14.8% 108 19.4% - - - superfamily_ARM repeat ALS2 57679 genome.wustl.edu 37 2 202603401 202603401 + Missense_Mutation SNP C C G novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_020919.3 -1 reviewed p.K803N 0.998 314 0% 90 12.2% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_DBL homology domain (DH-domain) PARD3B 117583 genome.wustl.edu 37 2 206305390 206305390 + Missense_Mutation SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_152526.4 +1 validated p.A951V 0.674 85 0% 28 25% 1 100% benign(0) tolerated(0.41) neutral(0.015) NULL PIKFYVE 200576 genome.wustl.edu 37 2 209216106 209216106 + Missense_Mutation SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_015040.3 +1 reviewed p.R1881H 1.000 381 0% 139 10.8% 1 0% possibly_damaging(0.807) deleterious(0.02) deleterious(0.687) HMMPfam_PIP5K,HMMSmart_SM00330,superfamily_SAICAR synthase-like TMEM169 92691 genome.wustl.edu 37 2 216964917 216964917 + Silent SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_001142310.1 +1 validated p.Y182 0.996 561 0.2% 349 17.8% 0 - - - - NULL ABCB6 10058 genome.wustl.edu 37 2 220082512 220082512 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_005689.1 -1 reviewed p.W189* 1.000 448 0% 24 16.7% 3 0% - - - NULL TRPM8 79054 genome.wustl.edu 37 2 234878921 234878921 + Missense_Mutation SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_024080.4 +1 validated p.V736M 1.000 989 0% 197 10.7% 0 - probably_damaging(0.99) deleterious(0.01) deleterious(0.847) NULL NDUFA10 4705 genome.wustl.edu 37 2 240958035 240958035 + Missense_Mutation SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_004544.3 -1 reviewed p.R161H 1.000 184 0% 37 18.9% 63 42.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_dNK,superfamily_SSF52540 SETD5 55209 genome.wustl.edu 37 3 9512270 9512270 + Missense_Mutation SNP G G T rs147163116 by1000genomes TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_001080517.1 +1 provisional p.G951V 0.000 280 0% 101 12.9% 17 29.4% benign(0) tolerated(0.17) neutral(0.059) NULL CNOT10 25904 genome.wustl.edu 37 3 32754825 32754825 + Missense_Mutation SNP T T G novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_015442.1 +1 provisional p.I179M 0.998 571 0% 217 12.4% 4 25% benign(0.001) tolerated(0.06) neutral(0.323) superfamily_TPR-like TRANK1 9881 genome.wustl.edu 37 3 36873544 36873544 + Nonsense_Mutation SNP G G C novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_014831.2 -1 provisional p.Y1916* 1.000 245 0% 66 22.7% 12 25% - - - NULL SCN5A 6331 genome.wustl.edu 37 3 38622763 38622763 + Frame_Shift_Del DEL G G - novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_001099404.1 -1 reviewed p.L963fs 1.000 - - - - - - - - - HMMPfam_Na_trans_assoc,superfamily_Voltage-gated potassium channels IMPDH2 3615 genome.wustl.edu 37 3 49061927 49061927 + Splice_Site SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_000884.2 -1 reviewed e13+1 1.000 264 0% 29 17.2% 13 69.2% - - - - LAMB2 3913 genome.wustl.edu 37 3 49169768 49169768 + Missense_Mutation SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_002292.3 -1 reviewed p.R107H 1.000 434 0.2% 31 22.6% 14 35.7% possibly_damaging(0.812) tolerated(0.21) neutral(0.349) HMMPfam_Laminin_N,HMMSmart_LamNT LAMB2 3913 genome.wustl.edu 37 3 49169824 49169824 + Silent SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_002292.3 -1 reviewed p.C88 0.976 486 0% 30 13.3% 8 0% - - - HMMPfam_Laminin_N,HMMSmart_LamNT DOCK3 1795 genome.wustl.edu 37 3 51127769 51127769 + Missense_Mutation SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_004947.3 +1 validated p.D234N 0.999 358 0% 116 18.1% 0 - probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL IQCF1 132141 genome.wustl.edu 37 3 51929261 51929261 + Missense_Mutation SNP A A G novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_152397.2 -1 validated p.L88P 0.935 67 0% 25 24% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_IQ,HMMSmart_SM00015,superfamily_P-loop containing nucleoside triphosphate hydrolases PBRM1 55193 genome.wustl.edu 37 3 52682384 52682386 + In_Frame_Del DEL ATT ATT - novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 ATT ATT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_018165.4 -1 validated p.N263in_frame_del 1.000:1.000:1.000 - - - - - - - - - HMMPfam_Bromodomain,HMMSmart_BROMO,superfamily_Bromodomain MAGI1 9223 genome.wustl.edu 37 3 65342359 65342359 + Silent SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_001033057.1 -1 reviewed p.R1361 0.210 116 0% 17 23.5% 7 57.1% - - - NULL ROBO1 6091 genome.wustl.edu 37 3 78711141 78711141 + Splice_Site SNP A A G novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_002941.3 -1 reviewed e14+2 1.000 318 0% 56 17.9% 0 - - - - - DCBLD2 131566 genome.wustl.edu 37 3 98530093 98530093 + Missense_Mutation SNP T T G novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_080927.3 -1 validated p.Q507H 0.992 900 0.1% 264 15.2% 11 9% possibly_damaging(0.46) deleterious(0.01) deleterious(0.556) NULL ARHGAP31 57514 genome.wustl.edu 37 3 119109779 119109779 + Missense_Mutation SNP T T A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_020754.2 +1 reviewed p.V277D 1.000 168 0% 62 12.9% 0 - possibly_damaging(0.604) deleterious(0) deleterious(0.654) NULL POLQ 10721 genome.wustl.edu 37 3 121178942 121178942 + Silent SNP A A G novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_199420.3 -1 validated p.I2369 0.901 283 0% 90 17.8% 2 50% - - - HMMPfam_DNA_pol_A,HMMSmart_SM00482,superfamily_DNA/RNA polymerases MGLL 11343 genome.wustl.edu 37 3 127429497 127429497 + Silent SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b ENST00000496306 -1 known p.R70Q 0.015 219 0% 15 26.7% 6 33.3% - - - superfamily_alpha/beta-Hydrolases IFT122 55764 genome.wustl.edu 37 3 129188193 129188193 + Missense_Mutation SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_052985.2 +1 reviewed p.R301H 0.998 325 0% 60 13.3% 5 40% benign(0) tolerated(0.23) neutral(0.042) superfamily_WD40 repeat-like XRN1 54464 genome.wustl.edu 37 3 142102240 142102240 + Missense_Mutation SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_019001.3 -1 validated p.D840N 1.000 278 0% 91 15.4% 0 - benign(0.017) tolerated(0.08) neutral(0.300) NULL COMMD2 51122 genome.wustl.edu 37 3 149469121 149469121 + Silent SNP A A G novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b ENST00000483708 -1 known p.H99 0.000 327 0% 88 17% 0 - - - - NULL ARHGEF26 26084 genome.wustl.edu 37 3 153958170 153958172 + In_Frame_Del DEL ACA ACA - novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 ACA ACA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_015595.3 +1 validated p.N702in_frame_del 1.000:1.000:1.000 - - - - - - - - - HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like PIK3CA 5290 genome.wustl.edu 37 3 178916614 178916614 + Missense_Mutation SNP A A G novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_006218.2 +1 reviewed p.M1V 1.000 112 0% 27 55.6% 0 - benign(0.029) deleterious(0) neutral(0.446) NULL PIK3CA 5290 genome.wustl.edu 37 3 178952084 178952084 + Missense_Mutation SNP C C T rs121913281 TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_006218.2 +1 reviewed p.H1047Y 1.000 281 0% 95 15.8% 12 25% benign(0.001) tolerated(0.21) neutral(0.044) HMMSmart_PI3Kc,superfamily_Kinase_like ATP11B 23200 genome.wustl.edu 37 3 182614511 182614511 + Silent SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b ENST00000498086 +1 known p.A803V 0.979 713 0% 189 12.2% 1 0% - - - NULL PIGX 54965 genome.wustl.edu 37 3 196460757 196460757 + Missense_Mutation SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_017861.3 +1 reviewed p.G213D 0.941 854 0% 284 13% 10 20% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL PPARGC1A 10891 genome.wustl.edu 37 4 23815961 23815961 + Missense_Mutation SNP C C G novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_013261.3 -1 reviewed p.G382A 1.000 253 0% 72 34.7% 0 - unknown(0) deleterious(0.01) - NULL EXOC1 55763 genome.wustl.edu 37 4 56759931 56759931 + Missense_Mutation SNP C C A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_001024924.1 +1 reviewed p.N646K 1.000 137 0% 41 17.1% 13 38.4% possibly_damaging(0.879) tolerated(0.12) deleterious(0.603) HMMPfam_Sec3 PPAT 5471 genome.wustl.edu 37 4 57265530 57265530 + Missense_Mutation SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_002703.3 -1 reviewed p.R351W 1.000 502 0% 130 12.3% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pribosyltran,superfamily_PRTase-like GNRHR 2798 genome.wustl.edu 37 4 68619623 68619623 + Missense_Mutation SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_000406.2 -1 reviewed p.T144M 0.996 188 0% 48 14.6% 0 - probably_damaging(1) tolerated(0.07) deleterious(0.819) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like UGT2B15 7366 genome.wustl.edu 37 4 69512912 69512912 + Silent SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_001076.2 -1 validated p.C501 0.362 518 0% 341 16.4% 0 - - - - HMMPfam_UDPGT SULT1B1 27284 genome.wustl.edu 37 4 70620787 70620787 + Splice_Site SNP C C A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_014465.3 -1 reviewed e1+1 1.000 423 0% 123 13.8% 0 - - - - - AMTN 401138 genome.wustl.edu 37 4 71396938 71396938 + Silent SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_212557.2 +1 validated p.D180 0.130 111 0% 30 20% 0 - - - - NULL NPFFR2 10886 genome.wustl.edu 37 4 73013105 73013105 + Missense_Mutation SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_004885.2 +1 reviewed p.A382V 1.000 146 0% 45 13.3% 0 - benign(0.01) tolerated(1) neutral(0.001) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like CXCL5 6374 genome.wustl.edu 37 4 74863731 74863731 + Silent SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_002994.3 -1 reviewed p.D108 0.183 366 0% 106 13.2% 24 0% - - - superfamily_Interleukin 8-like chemokines SHROOM3 57619 genome.wustl.edu 37 4 77651990 77651990 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_020859.3 +1 validated p.W163* 1.000 166 0.6% 21 23.8% 3 33.3% - - - NULL CDS1 1040 genome.wustl.edu 37 4 85555013 85555013 + Missense_Mutation SNP G G A rs113432734 TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_001263.3 +1 reviewed p.A215T 1.000 277 0% 127 13.4% 6 50% probably_damaging(0.975) deleterious(0) deleterious(0.861) HMMPfam_CTP_transf_1 GRID2 2895 genome.wustl.edu 37 4 94006429 94006429 + Silent SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_001510.2 +1 validated p.Y176 1.000 225 0% 41 24.4% 0 - - - - HMMPfam_ANF_receptor,superfamily_SSF53822 HADH 3033 genome.wustl.edu 37 4 108931031 108931031 + Silent SNP A A T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_005327.4 +1 reviewed p.A83 1.000 325 0% 122 23% 39 53.8% - - - HMMPfam_3HCDH_N,superfamily_NAD(P)-binding Rossmann-fold domains PITX2 5308 genome.wustl.edu 37 4 111539418 111539418 + Frame_Shift_Del DEL A A - novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_000325.5 -1 reviewed p.Y280fs 1.000 - - - - - - - - - NULL AP1AR 55435 genome.wustl.edu 37 4 113187746 113187747 + Frame_Shift_Del DEL CT CT - novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_018569.4 +1 validated p.S174fs 1.000:1.000 - - - - - - - - - NULL NDST3 9348 genome.wustl.edu 37 4 119154278 119154278 + Missense_Mutation SNP G G T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_004784.2 +1 reviewed p.R644M 1.000 657 0% 155 14.8% 0 - possibly_damaging(0.939) deleterious(0) deleterious(0.829) HMMPfam_Sulfotransfer_1,superfamily_P-loop containing nucleoside triphosphate hydrolases SYNPO2 171024 genome.wustl.edu 37 4 119951567 119951567 + Missense_Mutation SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_133477.2 +1 validated p.T546M 0.036 101 1% 28 21.4% 0 - benign(0.001) tolerated(0.32) neutral(0.024) NULL LARP1B 55132 genome.wustl.edu 37 4 129035883 129035883 + Missense_Mutation SNP C C A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_018078.2 +1 reviewed p.P383T 0.850 361 0% 93 22.6% 3 66.6% benign(0.017) tolerated(0.4) neutral(0.017) NULL INPP4B 8821 genome.wustl.edu 37 4 143043314 143043314 + Missense_Mutation SNP G G T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_001101669.1 -1 reviewed p.S701Y 1.000 446 0% 244 16.4% 10 0% probably_damaging(0.989) deleterious(0.01) deleterious(0.845) NULL FREM3 166752 genome.wustl.edu 37 4 144620293 144620293 + Silent SNP G G T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b ENST00000329798 -1 known p.T512 1.000 205 0% 28 14.3% 0 - - - - NULL TMEM144 55314 genome.wustl.edu 37 4 159162719 159162720 + Frame_Shift_Del DEL CT CT - novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_018342.4 +1 validated p.L289fs 0.999:1.000 - - - - - - - - - NULL CPE 1363 genome.wustl.edu 37 4 166385678 166385678 + Silent SNP T T C novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_001873.2 +1 reviewed p.S148 0.954 371 0% 141 20.6% 6 0% - - - HMMPfam_Peptidase_M14,superfamily_Zn-dependent exopeptidases PALLD 23022 genome.wustl.edu 37 4 169432910 169432910 + Missense_Mutation SNP A A T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_016081.3 +1 reviewed p.K85N 0.000 78 0% 20 35% 0 - benign(0.021) tolerated(0.05) neutral(0.346) NULL CCDC110 256309 genome.wustl.edu 37 4 186379430 186379430 + Missense_Mutation SNP A A T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_152775.3 -1 validated p.Y771N 0.271 491 0% 163 14.1% 0 - probably_damaging(0.99) tolerated(0.18) deleterious(0.497) NULL CTNND2 1501 genome.wustl.edu 37 5 11082830 11082830 + Silent SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_001332.2 -1 validated p.D922 0.988 214 0% 62 17.7% 1 0% - - - superfamily_ARM repeat SPEF2 79925 genome.wustl.edu 37 5 35697805 35697805 + Missense_Mutation SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_024867.3 +1 validated p.A684V 1.000 421 0% 143 11.2% 3 33.3% possibly_damaging(0.907) deleterious(0.02) deleterious(0.744) superfamily_P-loop containing nucleoside triphosphate hydrolases LIFR 3977 genome.wustl.edu 37 5 38528877 38528877 + Missense_Mutation SNP G G T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_001127671.1 -1 reviewed p.P70T 0.023 343 0% 145 13.1% 1 0% benign(0.195) tolerated(0.18) neutral(0.074) HMMSmart_SM00060,superfamily_Fibronectin type III GHR 2690 genome.wustl.edu 37 5 42719249 42719249 + Missense_Mutation SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_000163.2 +1 reviewed p.A547V 0.994 381 0% 67 14.9% 0 - benign(0.033) tolerated(0.08) neutral(0.301) NULL PARP8 79668 genome.wustl.edu 37 5 50055550 50055550 + Silent SNP T T C novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_024615.3 +1 validated p.F86 1.000 410 0% 179 30.2% 3 33.3% - - - NULL SKIV2L2 23517 genome.wustl.edu 37 5 54603897 54603897 + Missense_Mutation SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_015360.4 +1 validated p.T19I 0.001 176 0% 34 23.5% 2 0% benign(0.116) tolerated(0.07) neutral(0.328) NULL MAP3K1 4214 genome.wustl.edu 37 5 56177811 56177812 + Frame_Shift_Ins INS - - TA novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_005921.1 +1 validated p.E928fs 0.999:1.000 - - - - - - - - - NULL IQGAP2 10788 genome.wustl.edu 37 5 75885534 75885534 + Silent SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_006633.2 +1 validated p.L207 0.996 344 0% 137 26.3% 3 0% - - - NULL ERAP2 64167 genome.wustl.edu 37 5 96225014 96225014 + Missense_Mutation SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b ENST00000510309 +1 known p.M325I 1.000 302 0% 100 20% 0 - benign(0) tolerated(0.11) neutral(0.272) superfamily_SSF55486 WDR36 134430 genome.wustl.edu 37 5 110428150 110428150 + Missense_Mutation SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_139281.2 +1 reviewed p.A55V 0.000 68 0% 12 33.3% 1 0% benign(0) tolerated(0.28) neutral(0.032) NULL HINT1 3094 genome.wustl.edu 37 5 130498370 130498370 + Splice_Site SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_005340.5 -1 validated e2-1 1.000 600 0% 238 15.5% 5 60% - - - - KDM3B 51780 genome.wustl.edu 37 5 137735575 137735575 + Missense_Mutation SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_016604.3 +1 validated p.R1025C 1.000 296 0% 110 24.5% 10 20% probably_damaging(1) deleterious(0) deleterious(0.945) NULL KDM3B 51780 genome.wustl.edu 37 5 137756527 137756527 + Missense_Mutation SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_016604.3 +1 validated p.A1283V 1.000 199 0% 78 25.6% 14 57.1% benign(0) tolerated(0.38) neutral(0.018) NULL TAF7 6879 genome.wustl.edu 37 5 140698694 140698694 + Silent SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_005642.2 -1 reviewed p.I306 1.000 927 0.1% 208 18.3% 70 15.7% - - - NULL ARAP3 64411 genome.wustl.edu 37 5 141051719 141051719 + Frame_Shift_Del DEL G G - novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_022481.5 -1 reviewed p.P512fs 1.000 - - - - - - - - - HMMPfam_ArfGap,HMMSmart_ArfGap,superfamily_ArfGAP PWWP2A 114825 genome.wustl.edu 37 5 159519619 159519619 + Missense_Mutation SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_001130864.1 -1 validated p.R680W 1.000 197 0% 40 17.5% 3 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_PWWP,HMMSmart_SM00293,superfamily_Tudor/PWWP/MBT DOCK2 1794 genome.wustl.edu 37 5 169463553 169463553 + Missense_Mutation SNP A A G novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_004946.2 +1 validated p.Y1220C 1.000 448 0.2% 118 15.3% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL TSPAN17 26262 genome.wustl.edu 37 5 176079845 176079847 + In_Frame_Del DEL CAA CAA - novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 CAA CAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_012171.1 +1 validated p.N132in_frame_del 1.000:1.000:1.000 - - - - - - - - - superfamily_Tetraspanin,HMMPfam_Tetraspannin RAB24 53917 genome.wustl.edu 37 5 176729812 176729812 + Missense_Mutation SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_001031677.2 -1 validated p.R69H 1.000 194 0% 13 30.8% 22 13.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_RAB,HMMPfam_Ras,superfamily_SSF52540 MAML1 9794 genome.wustl.edu 37 5 179192384 179192384 + Missense_Mutation SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_014757.4 +1 reviewed p.D125N 0.996 139 0% 43 18.6% 0 - probably_damaging(0.959) deleterious(0.01) deleterious(0.808) NULL MAPK9 5601 genome.wustl.edu 37 5 179674460 179674460 + Missense_Mutation SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_002752.4 -1 reviewed p.V223M 1.000 405 0% 69 33.3% 14 35.7% possibly_damaging(0.893) deleterious(0.02) deleterious(0.735) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase TXNDC5 81567 genome.wustl.edu 37 6 7883469 7883469 + Silent SNP G G T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_030810.2 -1 reviewed p.R403 1.000 218 0% 48 12.5% 100 28% - - - superfamily_Thiordxn-like_fd,HMMPfam_Thioredoxin TXNDC5 81567 genome.wustl.edu 37 6 7904931 7904931 + Missense_Mutation SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_030810.2 -1 reviewed p.P97S 1.000 148 0% 42 11.9% 46 19.5% benign(0.294) deleterious(0.04) neutral(0.440) superfamily_Thiordxn-like_fd,HMMPfam_Thioredoxin,PatternScan_THIOREDOXIN_1 PPP2R5D 5528 genome.wustl.edu 37 6 42975737 42975737 + Missense_Mutation SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_006245.2 +1 reviewed p.R264H 1.000 382 0% 66 24.2% 17 23.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_B56 PKHD1 5314 genome.wustl.edu 37 6 51768802 51768802 + Missense_Mutation SNP T T C novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_138694.3 -1 reviewed p.I2283V 0.000 360 0% 158 17.7% 0 - benign(0) tolerated(1) - superfamily_Pectin lyase-like NT5E 4907 genome.wustl.edu 37 6 86195018 86195018 + Missense_Mutation SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_002526.2 +1 validated p.R273W 0.353 428 0% 69 10.1% 57 3.5% probably_damaging(0.993) deleterious(0) deleterious(0.895) superfamily_SSF56300 CCNC 892 genome.wustl.edu 37 6 100009473 100009473 + Missense_Mutation SNP C C A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_005190.3 -1 reviewed p.R75M 1.000 284 0% 124 15.3% 8 0% possibly_damaging(0.804) deleterious(0) deleterious(0.747) HMMSmart_SM00385,HMMPfam_Cyclin_N,superfamily_Cyclin-like PREP 5550 genome.wustl.edu 37 6 105800937 105800937 + Missense_Mutation SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_002726.3 -1 reviewed p.R245C 1.000 363 0% 105 21.9% 10 60% probably_damaging(0.996) deleterious(0.03) deleterious(0.826) HMMPfam_Peptidase_S9_N,superfamily_Peptidase_S9A_N NR2E1 7101 genome.wustl.edu 37 6 108502144 108502144 + Silent SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_003269.3 +1 validated p.I291 0.996 240 0% 36 16.7% 0 - - - - HMMPfam_Hormone_recep,HMMSmart_SM00430,superfamily_Nuclear receptor ligand-binding domain RFPL4B 442247 genome.wustl.edu 37 6 112671461 112671461 + Missense_Mutation SNP T T C novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_001013734.2 +1 validated p.M184T 0.000 156 0% 32 18.8% 0 - benign(0.07) deleterious(0.02) neutral(0.388) HMMPfam_SPRY PERP 64065 genome.wustl.edu 37 6 138417630 138417630 + Silent SNP C C A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_022121.4 -1 validated p.A72 0.056 286 0% 78 11.5% 194 20.6% - - - NULL SHPRH 257218 genome.wustl.edu 37 6 146240488 146240488 + Missense_Mutation SNP T T C novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_001042683.2 -1 validated p.H1387R 1.000 292 0% 61 11.5% 0 - benign(0.226) tolerated(0.08) neutral(0.323) NULL SASH1 23328 genome.wustl.edu 37 6 148795286 148795286 + Silent SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_015278.3 +1 validated p.S185 0.972 758 0% 264 17.8% 1 0% - - - NULL DNAH11 8701 genome.wustl.edu 37 7 21744161 21744161 + Missense_Mutation SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_003777.3 +1 reviewed p.R2135Q 1.000 214 0% 73 17.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_P-loop containing nucleoside triphosphate hydrolases CBX3 11335 genome.wustl.edu 37 7 26245999 26245999 + Silent SNP A A G novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_007276.3 +1 reviewed p.G12 1.000 527 0% 113 21.2% 37 32.4% - - - NULL STK17A 9263 genome.wustl.edu 37 7 43664331 43664331 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_004760.2 +1 reviewed p.G379* 1.000 224 0% 159 19.5% 15 0% - - - NULL C7orf57 136288 genome.wustl.edu 37 7 48099823 48099823 + Missense_Mutation SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_001100159.1 +1 validated p.S281N 0.938 205 0% 74 10.8% 1 0% benign(0) tolerated(1) - NULL ZP3 7784 genome.wustl.edu 37 7 76071158 76071158 + Splice_Site SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_001110354.1 +1 reviewed e8-1 0.966 645 0% 122 13.1% 0 - - - - - PHTF2 57157 genome.wustl.edu 37 7 77569392 77569392 + Missense_Mutation SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_001127357.1 +1 validated p.A471T 1.000 454 0% 196 19.9% 7 0% benign(0.059) deleterious(0.02) neutral(0.387) NULL PCLO 27445 genome.wustl.edu 37 7 82595341 82595341 + Missense_Mutation SNP A A G novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_033026.5 -1 validated p.S1255P 0.000 1174 0% 328 15.9% 0 - benign(0.065) - - NULL CDK14 5218 genome.wustl.edu 37 7 90741976 90741976 + Missense_Mutation SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_012395.2 +1 validated p.R407Q 1.000 73 0% 29 27.6% 1 0% benign(0.365) tolerated(0.47) neutral(0.127) superfamily_Protein kinase-like (PK-like) PEX1 5189 genome.wustl.edu 37 7 92130901 92130901 + Missense_Mutation SNP T T C novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_000466.2 -1 reviewed p.R835G 0.853 292 0% 78 29.5% 8 25% benign(0.005) tolerated(0.12) neutral(0.261) superfamily_P-loop containing nucleoside triphosphate hydrolases SAMD9L 219285 genome.wustl.edu 37 7 92763809 92763809 + Silent SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_152703.2 -1 validated p.Q492 0.923 193 0% 118 16.1% 2 0% - - - NULL SLC26A5 375611 genome.wustl.edu 37 7 103061836 103061836 + Silent SNP A A G novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_198999.2 -1 reviewed p.I42 0.625 489 0% 148 20.3% 0 - - - - NULL ATXN7L1 222255 genome.wustl.edu 37 7 105254667 105254667 + Frame_Shift_Del DEL T T - novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_020725.1 -1 validated p.N705fs 1.000 - - - - - - - - - NULL ATXN7L1 222255 genome.wustl.edu 37 7 105278904 105278904 + Silent SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_020725.1 -1 validated p.S366 0.000 585 0% 83 13.3% 1 100% - - - NULL KIAA1549 57670 genome.wustl.edu 37 7 138602319 138602319 + Missense_Mutation SNP G G C novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_020910.2 -1 validated p.L635V 0.003 133 0% 35 17.1% 0 - benign(0) tolerated(1) - NULL ANGPT2 285 genome.wustl.edu 37 8 6366553 6366553 + Silent SNP G G T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_001147.2 -1 reviewed p.A410 0.998 751 0% 118 14.4% 6 0% - - - HMMPfam_Fibrinogen_C,HMMSmart_SM00186,superfamily_Fibrinogen C-terminal domain-like DLC1 10395 genome.wustl.edu 37 8 12943906 12943906 + Silent SNP G G A rs141467403 by1000genomes TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_182643.2 -1 reviewed p.R1453 0.754 365 0% 41 17.1% 1 100% - - - HMMPfam_START,HMMSmart_SM00234,superfamily_Bet v1-like CHD7 55636 genome.wustl.edu 37 8 61765694 61765694 + Missense_Mutation SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_017780.2 +1 reviewed p.A2137V 0.215 231 0% 39 10.3% 2 0% benign(0.002) deleterious(0.01) neutral(0.406) NULL ADHFE1 137872 genome.wustl.edu 37 8 67356974 67356974 + Missense_Mutation SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_144650.2 +1 validated p.T115M 1.000 502 0% 221 21.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Fe-ADH,superfamily_Dehydroquinate synthase-like TRPA1 8989 genome.wustl.edu 37 8 72975102 72975102 + Frame_Shift_Del DEL C C - novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_007332.2 -1 reviewed p.V247fs 1.000 - - - - - - - - - HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat VPS13B 157680 genome.wustl.edu 37 8 100866268 100866268 + Missense_Mutation SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_017890.3 +1 reviewed p.A3576T 0.998 168 0% 63 23.8% 2 100% probably_damaging(0.972) deleterious(0.02) deleterious(0.797) NULL TM7SF4 81501 genome.wustl.edu 37 8 105361633 105361633 + Missense_Mutation SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_030788.2 +1 reviewed p.P285S 0.021 261 0% 74 16.2% 0 - possibly_damaging(0.677) tolerated(0.42) neutral(0.255) HMMPfam_DC_STAMP ATAD2 29028 genome.wustl.edu 37 8 124371905 124371905 + Missense_Mutation SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_014109.3 -1 reviewed p.R393Q 0.869 329 0% 149 16.8% 1 0% possibly_damaging(0.648) deleterious(0.02) deleterious(0.611) NULL KIAA0196 9897 genome.wustl.edu 37 8 126091111 126091111 + Missense_Mutation SNP C C A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_014846.3 -1 reviewed p.G194C 1.000 435 0.2% 66 12.1% 4 25% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Strumpellin FAM135B 51059 genome.wustl.edu 37 8 139263192 139263192 + Missense_Mutation SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_015912.3 -1 validated p.R145Q 0.220 124 0% 20 30% 0 - probably_damaging(0.999) tolerated(0.35) deleterious(0.511) NULL KANK1 23189 genome.wustl.edu 37 9 712394 712397 + Frame_Shift_Del DEL AAAC AAAC - novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 AAAC AAAC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_015158.2 +1 reviewed p.N545fs 0.247:0.002:0.008:0.009 - - - - - - - - - superfamily_ANK SMARCA2 6595 genome.wustl.edu 37 9 2054609 2054609 + Silent SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_003070.3 +1 reviewed p.R353 0.981 395 0.3% 82 18.3% 4 50% - - - NULL KIAA2026 158358 genome.wustl.edu 37 9 5921380 5921380 + Missense_Mutation SNP T T A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_001017969.2 -1 validated p.Y1539F 1.000 555 0% 225 17.3% 3 0% benign(0) tolerated(0.42) neutral(0.014) NULL HINT2 84681 genome.wustl.edu 37 9 35813449 35813451 + In_Frame_Del DEL TCT TCT - novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 TCT TCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_032593.2 -1 validated p.E106in_frame_del 1.000:1.000:0.460 - - - - - - - - - HMMPfam_HIT,superfamily_HIT-like RECK 8434 genome.wustl.edu 37 9 36063867 36063867 + Missense_Mutation SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_021111.2 +1 reviewed p.A116V 1.000 399 0% 99 18.2% 2 0% probably_damaging(0.954) tolerated(0.43) neutral(0.411) NULL ZNF658 26149 genome.wustl.edu 37 9 40772690 40772690 + Missense_Mutation SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_033160.5 -1 validated p.T862M 0.003 353 0% 88 12.5% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers GKAP1 80318 genome.wustl.edu 37 9 86357453 86357453 + Missense_Mutation SNP T T C novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_025211.3 -1 reviewed p.T323A 0.998 505 0.2% 173 12.1% 4 25% possibly_damaging(0.601) deleterious(0.01) deleterious(0.614) NULL TEX10 54881 genome.wustl.edu 37 9 103109290 103109290 + Silent SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_017746.3 -1 validated p.Q193 1.000 307 0% 72 13.9% 1 0% - - - NULL MUSK 4593 genome.wustl.edu 37 9 113530130 113530130 + Silent SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_005592.3 +1 reviewed p.C317 1.000 194 0% 87 27.6% 0 - - - - HMMPfam_Fz COL27A1 85301 genome.wustl.edu 37 9 116940571 116940571 + Missense_Mutation SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_032888.2 +1 validated p.G637S 1.000 497 0% 63 12.7% 1 0% unknown(0) - - HMMPfam_Collagen PAPPA 5069 genome.wustl.edu 37 9 119065167 119065167 + Missense_Mutation SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_002581.3 +1 reviewed p.V1029I 0.999 220 0% 71 25.4% 0 - probably_damaging(0.987) deleterious(0.03) deleterious(0.801) superfamily_SSF55486 RC3H2 54542 genome.wustl.edu 37 9 125613437 125613437 + Silent SNP A A G novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b ENST00000454740 -1 known p.M160T 1.000 389 0% 108 31.5% 3 0% - - - NULL PPP6C 5537 genome.wustl.edu 37 9 127916213 127916213 + Missense_Mutation SNP T T G novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_001123355.1 -1 reviewed p.K181T 1.000 577 0% 223 17.9% 26 19.2% benign(0.088) deleterious(0.02) neutral(0.390) HMMPfam_Metallophos,HMMSmart_PP2Ac,superfamily_SSF56300 PBX3 5090 genome.wustl.edu 37 9 128725340 128725340 + Missense_Mutation SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_006195.5 +1 validated p.G391D 1.000 519 0% 135 12.6% 2 0% possibly_damaging(0.877) deleterious(0.04) deleterious(0.691) NULL STXBP1 6812 genome.wustl.edu 37 9 130430417 130430417 + Missense_Mutation SNP G G T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_003165.3 +1 reviewed p.D285Y 1.000 92 0% 17 29.4% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sec1,superfamily_Sec1/munc18-like (SM) proteins COQ4 51117 genome.wustl.edu 37 9 131094487 131094487 + Missense_Mutation SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_016035.3 +1 validated p.A153V 0.996 136 0% 15 26.7% 62 27.4% possibly_damaging(0.69) deleterious(0) deleterious(0.692) HMMPfam_Coq4 NUP214 8021 genome.wustl.edu 37 9 134026055 134026055 + Missense_Mutation SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_005085.2 +1 reviewed p.A727V 1.000 321 0% 72 15.3% 1 0% possibly_damaging(0.949) tolerated(0.97) neutral(0.393) NULL PRTFDC1 56952 genome.wustl.edu 37 10 25145905 25145905 + Missense_Mutation SNP C C A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_020200.5 -1 provisional p.R148M 0.999 912 0% 455 11% 0 - benign(0.012) deleterious(0.04) neutral(0.349) HMMPfam_Pribosyltran,superfamily_PRTase-like PCDH15 65217 genome.wustl.edu 37 10 55913032 55913032 + Missense_Mutation SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_001142763.1 -1 reviewed p.E543K 1.000 289 0% 79 13.9% 0 - probably_damaging(0.96) tolerated(0.86) neutral(0.404) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like HERC4 26091 genome.wustl.edu 37 10 69714452 69714452 + Missense_Mutation SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_022079.2 -1 validated p.R754H 1.000 403 0% 138 17.4% 7 28.5% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain KAT6B 23522 genome.wustl.edu 37 10 76781756 76781756 + Missense_Mutation SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_012330.2 +1 validated p.H1047Y 1.000 250 0% 45 26.7% 3 0% possibly_damaging(0.499) tolerated(0.53) neutral(0.174) NULL PTEN 5728 genome.wustl.edu 37 10 89653795 89653795 + Missense_Mutation SNP C C G novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b ENST00000371953 +1 known p.N31K 1.000 669 0% 367 28.1% 8 25% benign(0.041) tolerated(0.14) neutral(0.252) HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II PTEN 5728 genome.wustl.edu 37 10 89712013 89712014 + Frame_Shift_Ins INS - - G novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b ENST00000371953 +1 known p.C211fs 1.000:1.000 - - - - - - - - - superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_PTEN_C2 PTEN 5728 genome.wustl.edu 37 10 89720786 89720786 + Frame_Shift_Del DEL A A - novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b ENST00000371953 +1 known p.K313fs 1.000 - - - - - - - - - superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_PTEN_C2 DNTT 1791 genome.wustl.edu 37 10 98064404 98064404 + Silent SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_004088.3 +1 reviewed p.A50 0.835 157 0% 26 38.5% 0 - - - - HMMPfam_BRCT,HMMSmart_SM00292,superfamily_BRCT domain PGAM1 5223 genome.wustl.edu 37 10 99190263 99190263 + Silent SNP G G A rs55712240 byCluster TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_002629.2 +1 provisional p.E89 1.000 244 0% 78 9% 31 3.2% - - - HMMPfam_PGAM,superfamily_Phosphoglycerate mutase-like C10orf137 26098 genome.wustl.edu 37 10 127429207 127429207 + Silent SNP T T G novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_015608.2 +1 validated p.A685 0.391 301 0% 115 27% 4 0% - - - NULL MUC2 4583 genome.wustl.edu 37 11 1092884 1092884 + Missense_Mutation SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_002457.2 +1 reviewed p.T1568M 0.006 5489 2.4% 75 9.3% 2 0% unknown(0) - - NULL OR52B4 143496 genome.wustl.edu 37 11 4389363 4389363 + Missense_Mutation SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_001005161.3 -1 validated p.R55C 0.000 209 0% 80 17.5% 0 - benign(0.015) tolerated(0.07) neutral(0.320) HMMPfam_7tm_1,superfamily_SSF81321 OR5P3 120066 genome.wustl.edu 37 11 7846752 7846752 + Silent SNP G G T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_153445.1 -1 provisional p.T256 0.035 401 0% 95 13.7% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 TUB 7275 genome.wustl.edu 37 11 8119342 8119342 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_003320.4 +1 reviewed p.R378* 1.000 251 0% 57 22.8% 0 - - - - HMMPfam_Tub,superfamily_Tubby_C KIF18A 81930 genome.wustl.edu 37 11 28083990 28083991 + Frame_Shift_Del DEL AT AT - novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 AT AT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_031217.3 -1 validated p.M555fs 0.984:0.983 - - - - - - - - - NULL API5 8539 genome.wustl.edu 37 11 43348099 43348099 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_001142930.1 +1 validated p.Q265* 1.000 447 0% 113 16.8% 7 0% - - - HMMPfam_API5,superfamily_ARM-type_fold ALKBH3 221120 genome.wustl.edu 37 11 43923243 43923243 + Missense_Mutation SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_139178.3 +1 validated p.R213C 0.998 193 0% 36 33.3% 7 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CKAP5 9793 genome.wustl.edu 37 11 46782302 46782304 + In_Frame_Del DEL CTC CTC - novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_001008938.1 -1 validated p.E1418in_frame_del 0.999:1.000:1.000 - - - - - - - - - NULL OR5M8 219484 genome.wustl.edu 37 11 56258124 56258124 + Silent SNP G G T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_001005282.1 -1 provisional p.G241 0.050 164 0% 59 37.3% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR5AR1 219493 genome.wustl.edu 37 11 56431376 56431376 + Missense_Mutation SNP G G C novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_001004730.1 +1 provisional p.G72A 0.998 555 0% 186 24.7% 0 - benign(0.206) deleterious(0.02) neutral(0.403) HMMPfam_7tm_1,superfamily_SSF81321 OR4D6 219983 genome.wustl.edu 37 11 59225149 59225149 + Missense_Mutation SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_001004708.1 +1 provisional p.T239M 1.000 231 0% 67 22.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_SSF81321 C11orf9 745 genome.wustl.edu 37 11 61548760 61548760 + Missense_Mutation SNP A A G novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_001127392.1 +1 validated p.H908R 0.002 353 0% 17 23.5% 4 25% benign(0) tolerated(0.17) neutral(0.059) NULL FLRT1 23769 genome.wustl.edu 37 11 63885513 63885513 + Missense_Mutation SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_013280.4 +1 reviewed p.R592W 1.000 45 0.000 5 0.800 1 0% probably_damaging(0.994) deleterious(0) deleterious(0.897) NULL RBM14 10432 genome.wustl.edu 37 11 66393997 66393997 + Missense_Mutation SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_006328.3 +1 validated p.S623L 1.000 126 0% 19 21.1% 53 20.7% unknown(0) deleterious(0.01) - NULL INPPL1 3636 genome.wustl.edu 37 11 71940250 71940250 + Missense_Mutation SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_001567.3 +1 reviewed p.A212V 0.096 77 0% 19 26.3% 18 33.3% benign(0) tolerated(0.58) neutral(0.005) NULL RNF169 254225 genome.wustl.edu 37 11 74546892 74546892 + Missense_Mutation SNP A A T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_001098638.1 +1 validated p.N415I 0.358 213 0% 40 17.5% 1 100% possibly_damaging(0.69) deleterious(0.02) deleterious(0.630) NULL OR2AT4 341152 genome.wustl.edu 37 11 74799997 74799997 + Silent SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_001005285.1 -1 provisional p.G254 1.000 174 0% 18 22.2% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like CCDC89 220388 genome.wustl.edu 37 11 85396997 85396999 + In_Frame_Del DEL CTC CTC - novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_152723.1 -1 provisional p.E59in_frame_del 0.995:1.000:1.000 - - - - - - - - - NULL ENSG00000223709 0 genome.wustl.edu 37 11 89796016 89796016 + Missense_Mutation SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b ENST00000436580 -1 known p.R50C 0.028 274 0% 34 14.7% 0 - - - - HMMSmart_SM00184,HMMPfam_zf-C3HC4,superfamily_RING/U-box FOLR4 390243 genome.wustl.edu 37 11 94040442 94040442 + Missense_Mutation SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_001080486.1 +1 provisional p.R147C 0.940 477 0% 159 15.1% 0 - possibly_damaging(0.598) tolerated(0.15) neutral(0.448) HMMPfam_Folate_rec ATM 472 genome.wustl.edu 37 11 108128277 108128277 + Missense_Mutation SNP G G T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_000051.3 +1 reviewed p.G774C 0.856 385 0.3% 111 15.3% 1 0% benign(0.11) tolerated(0.09) neutral(0.305) superfamily_ARM repeat ROBO4 54538 genome.wustl.edu 37 11 124766201 124766201 + Missense_Mutation SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_019055.5 -1 validated p.S191F 0.472 157 0% 30 33.3% 2 0% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin GLB1L2 89944 genome.wustl.edu 37 11 134238603 134238603 + Missense_Mutation SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_138342.3 +1 validated p.G319R 0.998 150 0% 32 15.6% 21 28.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Glyco_hydro_35,superfamily_Glyco_hydro_cat SLC6A13 6540 genome.wustl.edu 37 12 369056 369056 + Missense_Mutation SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_016615.2 -1 provisional p.V55I 1.000 274 0.7% 59 30.5% 0 - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMPfam_SNF CACNA1C 775 genome.wustl.edu 37 12 2719827 2719827 + Missense_Mutation SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_199460.2 +1 reviewed p.V1247I 0.999 192 0% 48 25% 0 - benign(0.001) tolerated(0.34) neutral(0.023) superfamily_Voltage-gated potassium channels RAD51AP1 10635 genome.wustl.edu 37 12 4653047 4653047 + Silent SNP A A G novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_001130862.1 +1 validated p.V62 0.001 287 0% 81 30.9% 2 50% - - - NULL ATN1 1822 genome.wustl.edu 37 12 7045891 7045892 + In_Frame_Ins INS - - CAG novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_001007026.1 +1 reviewed p.491in_frame_insQ 0.002:0.834 - - - - - - - - - HMMPfam_Atrophin-1 ATF7IP 55729 genome.wustl.edu 37 12 14577331 14577331 + Missense_Mutation SNP C C G novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_018179.3 +1 validated p.S161C 0.127 246 0% 55 16.4% 4 100% unknown(0) deleterious(0.02) - NULL ACVR1B 91 genome.wustl.edu 37 12 52380888 52380888 + Missense_Mutation SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_020328.2 +1 reviewed p.L475F 0.000 1292 0% 360 22.2% 1 100% unknown(0) - - NULL KRT72 140807 genome.wustl.edu 37 12 52992736 52992736 + Missense_Mutation SNP C C A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_080747.2 -1 reviewed p.R196M 1.000 613 0.2% 185 11.4% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Filament C12orf10 60314 genome.wustl.edu 37 12 53696883 53696883 + Missense_Mutation SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_021640.3 +1 validated p.A132V 0.998 215 0% 26 15.4% 27 7.4% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_UPF0160 NCKAP1L 3071 genome.wustl.edu 37 12 54914515 54914515 + Missense_Mutation SNP A A G novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_005337.4 +1 reviewed p.T555A 1.000 666 0% 242 16.9% 8 0% benign(0.393) deleterious(0.01) deleterious(0.532) HMMPfam_Nckap1 OR6C68 403284 genome.wustl.edu 37 12 55886725 55886725 + Silent SNP A A G novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_001005519.1 +1 provisional p.S193 1.000 423 0% 181 21.5% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like MYL6B 140465 genome.wustl.edu 37 12 56551277 56551277 + Silent SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_002475.3 +1 reviewed p.V182 1.000 526 0% 104 17.3% 185 30.2% - - - superfamily_SSF47473 BAZ2A 11176 genome.wustl.edu 37 12 57004272 57004272 + Missense_Mutation SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_013449.3 -1 validated p.G569D 1.000 136 0% 29 55.2% 3 66.6% probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_MBD,HMMSmart_SM00391,superfamily_DNA-binding domain RASSF9 9182 genome.wustl.edu 37 12 86229955 86229955 + Missense_Mutation SNP G G T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_005447.3 -1 reviewed p.L9I 0.990 599 0% 79 13.9% 2 0% possibly_damaging(0.586) deleterious(0) deleterious(0.647) NULL UHRF1BP1L 23074 genome.wustl.edu 37 12 100480137 100480137 + Splice_Site SNP C C A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_015054.1 -1 validated e9-1 1.000 132 0% 61 13.1% 0 - - - - - SLC41A2 84102 genome.wustl.edu 37 12 105238260 105238260 + Missense_Mutation SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_032148.3 -1 validated p.A509V 1.000 222 0% 83 16.9% 5 20% probably_damaging(0.977) tolerated(0.06) deleterious(0.742) HMMPfam_MgtE PWP1 11137 genome.wustl.edu 37 12 108102922 108102922 + Silent SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_007062.1 +1 provisional p.L401 0.809 283 0% 94 34% 47 36.1% - - - HMMSmart_SM00320,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1,HMMPfam_WD40 MVK 4598 genome.wustl.edu 37 12 110019245 110019245 + Silent SNP C C T rs104895373 TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_000431.2 +1 reviewed p.P139 0.000 92 0% 24 25% 5 0% - - - PatternScan_GHMP_KINASES_ATP,HMMPfam_GHMP_kinases_N,superfamily_Ribosomal protein S5 domain 2-like C12orf76 400073 genome.wustl.edu 37 12 110496817 110496817 + Missense_Mutation SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_207435.1 -1 predicted p.T56I 0.005 271 0% 209 20.6% 0 - unknown(0) - - NULL MED13L 23389 genome.wustl.edu 37 12 116429451 116429452 + Frame_Shift_Ins INS - - T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_015335.3 -1 validated p.I1103fs 0.961:0.951 - - - - - - - - - NULL DDX55 57696 genome.wustl.edu 37 12 124103201 124103202 + Frame_Shift_Del DEL TG TG - novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 TG TG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b ENST00000354291 +1 known p.V411fs 0.006:0.005 - - - - - - - - - NULL NCOR2 9612 genome.wustl.edu 37 12 124887004 124887004 + Missense_Mutation SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_006312.3 -1 validated p.A529V 0.934 349 0% 62 19.4% 3 33.3% unknown(0) tolerated(0.22) - NULL UBC 7316 genome.wustl.edu 37 12 125396313 125396315 + In_Frame_Del DEL TGT TGT - novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 TGT TGT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_021009.4 -1 validated p.N668in_frame_del 1.000:1.000:1.000 - - - - - - - - - HMMPfam_ubiquitin,HMMSmart_SM00213,superfamily_Ubiquitin-like GPR133 283383 genome.wustl.edu 37 12 131622686 131622686 + Missense_Mutation SNP G G C novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_198827.3 +1 validated p.R814T 1.000 69 0% 10 40% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL POLE 5426 genome.wustl.edu 37 12 133248899 133248899 + Missense_Mutation SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_006231.2 -1 validated p.A566T 1.000 142 0% 54 27.8% 7 28.5% possibly_damaging(0.521) deleterious(0.03) deleterious(0.540) HMMPfam_DNA_pol_B,HMMSmart_POLBc,superfamily_SSF56672 XPO4 64328 genome.wustl.edu 37 13 21361121 21361121 + Silent SNP A A G novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_022459.4 -1 validated p.L1081 0.556 160 0% 50 18% 3 0% - - - superfamily_ARM-type_fold SKA3 221150 genome.wustl.edu 37 13 21742300 21742300 + Silent SNP G G T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b ENST00000314759 -1 known p.T190 0.002 1012 0.1% 321 32.7% 6 66.6% - - - NULL CDK8 1024 genome.wustl.edu 37 13 26975440 26975440 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_001260.1 +1 reviewed p.R356* 1.000 1103 0% 371 10.5% 3 0% - - - superfamily_Protein kinase-like (PK-like) PDS5B 23047 genome.wustl.edu 37 13 33233387 33233387 + Silent SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_015032.3 +1 reviewed p.T198 0.975 632 0% 288 12.8% 0 - - - - superfamily_ARM repeat PDS5B 23047 genome.wustl.edu 37 13 33275548 33275548 + Missense_Mutation SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_015032.3 +1 reviewed p.P610L 1.000 281 0% 73 17.8% 5 100% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ARM repeat DNAJC15 29103 genome.wustl.edu 37 13 43659961 43659961 + Missense_Mutation SNP T T G novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_013238.2 +1 validated p.N123K 1.000 325 0% 67 19.4% 82 32.9% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DnaJ,HMMSmart_SM00271,superfamily_Chaperone J-domain WDFY2 115825 genome.wustl.edu 37 13 52325537 52325537 + Missense_Mutation SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_052950.3 +1 reviewed p.V273M 0.998 386 0% 40 25% 13 38.4% possibly_damaging(0.887) tolerated(0.06) deleterious(0.669) superfamily_FYVE/PHD zinc finger,superfamily_WD40 repeat-like ATP7B 540 genome.wustl.edu 37 13 52542742 52542742 + Silent SNP A A G novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_000053.2 -1 reviewed p.G515 0.066 239 0.4% 39 25.6% 1 100% - - - HMMPfam_HMA,superfamily_HMA heavy metal-associated domain,PatternScan_HMA_1 PIBF1 10464 genome.wustl.edu 37 13 73401175 73401175 + Silent SNP A A T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_006346.2 +1 validated p.V278 0.000 321 0% 176 13.6% 6 33.3% - - - NULL LMO7 4008 genome.wustl.edu 37 13 76415307 76415308 + Frame_Shift_Del DEL AG AG - novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_015842.2 +1 reviewed p.N986fs 0.016:0.998 - - - - - - - - - NULL ANG 283 genome.wustl.edu 37 14 21161742 21161742 + Missense_Mutation SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_001097577.2 +1 reviewed p.V7I 0.001 728 0% 154 18.8% 14 0% unknown(0) tolerated(0.91) - NULL NDRG2 57447 genome.wustl.edu 37 14 21486183 21486183 + Silent SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_201535.1 -1 reviewed p.T304 0.055 350 0% 87 25.3% 82 39% - - - HMMPfam_Ndr,superfamily_alpha/beta-Hydrolases DHRS4L2 317749 genome.wustl.edu 37 14 24475202 24475202 + Missense_Mutation SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b ENST00000382755 +1 known p.R256H 0.998 297 0% 61 13.1% 36 16.6% probably_damaging(0.997) tolerated(0.14) deleterious(0.716) NULL ENSG00000250370 0 genome.wustl.edu 37 14 31354951 31354951 + RNA SNP A A C novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b ENST00000503907 -1 known NULL 0.006 353 0% 70 25.7% 0 - - - - - ARHGAP5 394 genome.wustl.edu 37 14 32623975 32623975 + Missense_Mutation SNP C C A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_001030055.1 +1 reviewed p.Q1444K 1.000 348 0.3% 93 28% 8 37.5% probably_damaging(1) tolerated(0.09) deleterious(0.796) HMMSmart_SM00324,superfamily_GTPase activation domain GAP CTAGE5 4253 genome.wustl.edu 37 14 39817956 39817956 + Missense_Mutation SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_005930.3 +1 validated p.V675M 0.964 667 0% 374 11.2% 64 28.1% benign(0.252) deleterious(0.03) neutral(0.391) NULL NIN 51199 genome.wustl.edu 37 14 51233103 51233103 + Silent SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_020921.3 -1 reviewed p.L519 0.905 386 0.3% 79 16.5% 6 16.6% - - - NULL MAPK1IP1L 93487 genome.wustl.edu 37 14 55529352 55529352 + Missense_Mutation SNP C C G novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_144578.3 +1 validated p.P12R 1.000 131 0% 28 35.7% 27 44.4% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL DACT1 51339 genome.wustl.edu 37 14 59105202 59105202 + Silent SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_016651.5 +1 validated p.A94 0.966 50 0% 18 27.8% 0 - - - - NULL PLEK2 26499 genome.wustl.edu 37 14 67857412 67857412 + Missense_Mutation SNP G G T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_016445.1 -1 provisional p.P275T 0.998 283 0.7% 75 10.7% 13 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 IGHV3-43 28426 genome.wustl.edu 37 14 106926622 106926622 + Missense_Mutation SNP A A T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b ENST00000434710 -1 known p.V8D 0.033 848 0% 355 16.9% 4 0% possibly_damaging(0.937) deleterious(0) deleterious(0.828) NULL STARD9 57519 genome.wustl.edu 37 15 42976894 42976894 + Missense_Mutation SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b XM_001129482.3 +1 model p.A992T 0.012 283 0% 26 30.8% 1 0% probably_damaging(0.99) - - NULL DMXL2 23312 genome.wustl.edu 37 15 51787283 51787283 + Missense_Mutation SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_015263.3 -1 validated p.R1574H 1.000 301 0% 106 23.6% 0 - unknown(0) deleterious(0) - NULL HERC1 8925 genome.wustl.edu 37 15 63966867 63966867 + Missense_Mutation SNP T T C novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_003922.3 -1 reviewed p.Q2507R 1.000 213 0% 53 15.1% 1 0% possibly_damaging(0.916) - - NULL MEGF11 84465 genome.wustl.edu 37 15 66386797 66386797 + Missense_Mutation SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_032445.2 -1 validated p.V113I 0.998 46 0% 24 20.8% 0 - benign(0.037) tolerated(0.73) neutral(0.004) HMMSmart_SM00181,superfamily_EGF/Laminin RPL4 6124 genome.wustl.edu 37 15 66795458 66795458 + Missense_Mutation SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_000968.2 -1 reviewed p.A74T 1.000 135 0% 34 26.5% 839 25.1% possibly_damaging(0.854) deleterious(0.04) deleterious(0.678) HMMPfam_Ribosomal_L4,superfamily_Ribosomal protein L4 RASGRF1 5923 genome.wustl.edu 37 15 79324604 79324604 + Missense_Mutation SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_002891.4 -1 reviewed p.R338H 1.000 197 0% 25 28% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) IL16 3603 genome.wustl.edu 37 15 81592162 81592164 + In_Frame_Del DEL CCT CCT - novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 CCT CCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_172217.3 +1 reviewed p.S836in_frame_del 0.001:0.004:0.009 - - - - - - - - - NULL EFTUD1 79631 genome.wustl.edu 37 15 82512113 82512113 + Missense_Mutation SNP C C A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_024580.5 -1 validated p.Q497H 0.807 342 0% 140 17.9% 10 40% possibly_damaging(0.943) deleterious(0.03) deleterious(0.752) superfamily_Translation proteins ABHD2 11057 genome.wustl.edu 37 15 89738582 89738582 + Silent SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_007011.7 +1 reviewed p.N402 0.784 233 0% 31 19.4% 16 12.5% - - - superfamily_SSF53474 TTLL13 440307 genome.wustl.edu 37 15 90800404 90800404 + Missense_Mutation SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_001029964.2 +1 validated p.R247Q 1.000 261 0% 27 29.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TTL,superfamily_SSF56059 CERS3 204219 genome.wustl.edu 37 15 101024831 101024831 + Missense_Mutation SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_178842.3 -1 validated p.R111C 1.000 289 0.3% 75 13.3% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like ATP6V0C 527 genome.wustl.edu 37 16 2569655 2569655 + Missense_Mutation SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_001694.2 +1 reviewed p.R126Q 0.989 79 0% 15 26.7% 281 37.7% probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMPfam_ATP-synt_C,superfamily_ATPase_F0/V0_c MYH11 4629 genome.wustl.edu 37 16 15844027 15844027 + Missense_Mutation SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_001040114.1 -1 reviewed p.V683M 1.000 167 0% 16 25% 2 50% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 ABCC1 4363 genome.wustl.edu 37 16 16108475 16108475 + Missense_Mutation SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_004996.3 +1 reviewed p.A160V 1.000 274 0% 101 16.8% 1 100% possibly_damaging(0.916) deleterious(0) deleterious(0.811) NULL UMOD 7369 genome.wustl.edu 37 16 20357585 20357585 + Missense_Mutation SNP G G T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_001008389.1 -1 reviewed p.L349M 1.000 121 0% 29 62.1% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Zona_pellucida,HMMSmart_SM00241 ITGAL 3683 genome.wustl.edu 37 16 30521709 30521709 + Missense_Mutation SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_002209.2 +1 reviewed p.E846K 1.000 352 0% 62 11.3% 4 0% probably_damaging(0.996) tolerated(0.13) deleterious(0.714) HMMPfam_Integrin_alpha2,superfamily_Integrin domains ENSG00000247487 0 genome.wustl.edu 37 16 48381303 48381304 + RNA DEL TT TT - novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 TT TT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b ENST00000501305 -1 known NULL 0.000:0.000 - - - - - - - - - - CNOT1 23019 genome.wustl.edu 37 16 58608966 58608966 + Missense_Mutation SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_016284.3 -1 validated p.R591H 1.000 342 0.3% 130 14.6% 8 25% probably_damaging(1) deleterious(0) deleterious(0.945) NULL LRRC36 55282 genome.wustl.edu 37 16 67399260 67399260 + Splice_Site SNP T T C novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_018296.5 +1 validated e7+2 1.000 487 0% 119 11.8% 0 - - - - - CTCF 10664 genome.wustl.edu 37 16 67663367 67663367 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_006565.2 +1 reviewed p.E590* 1.000 719 0% 253 16.6% 13 7.6% - - - NULL AARS 16 genome.wustl.edu 37 16 70305779 70305779 + Silent SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_001605.2 -1 reviewed p.Y192 0.997 138 0% 28 39.3% 36 38.8% - - - HMMPfam_tRNA-synt_2c,superfamily_SSF55681 ZNF23 7571 genome.wustl.edu 37 16 71482575 71482575 + Silent SNP A A G novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_145911.1 -1 provisional p.N451 0.106 309 0% 162 12.3% 10 40% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ATXN1L 342371 genome.wustl.edu 37 16 71883981 71883981 + Missense_Mutation SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_001137675.2 +1 validated p.A113V 1.000 318 0% 79 12.7% 0 - possibly_damaging(0.647) tolerated(0.09) deleterious(0.523) NULL PKD1L3 342372 genome.wustl.edu 37 16 71964002 71964002 + Missense_Mutation SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b ENST00000335106 -1 known p.V1669I 1.000 582 0.2% 144 24.3% 1 0% - - - HMMPfam_Ion_trans ZFHX3 463 genome.wustl.edu 37 16 72827658 72827658 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_006885.3 -1 reviewed p.E2975* 1.000 275 0% 69 33.3% 1 100% - - - HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like FBXO31 79791 genome.wustl.edu 37 16 87376498 87376498 + Silent SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_024735.3 -1 validated p.S239 0.032 140 0% 25 32% 10 40% - - - NULL ANKRD11 29123 genome.wustl.edu 37 16 89350595 89350595 + Silent SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_013275.4 -1 validated p.D785 0.935 241 0% 63 19% 2 50% - - - superfamily_Ankyrin repeat GAS8 2622 genome.wustl.edu 37 16 90104183 90104183 + Missense_Mutation SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_001481.2 +1 reviewed p.R313H 1.000 396 0% 55 23.6% 16 12.5% benign(0.364) tolerated(0.1) neutral(0.402) NULL ANKFY1 51479 genome.wustl.edu 37 17 4080534 4080534 + Silent SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_016376.3 -1 validated p.L889 1.000 388 0% 56 17.9% 3 0% - - - HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK ALOX12 239 genome.wustl.edu 37 17 6905083 6905083 + Missense_Mutation SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_000697.2 +1 validated p.A372T 0.910 203 0% 65 29.2% 1 100% benign(0.018) tolerated(0.3) neutral(0.029) HMMPfam_Lipoxygenase,superfamily_Lipoxygenase CHD3 1107 genome.wustl.edu 37 17 7810214 7810214 + Missense_Mutation SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_001005271.2 +1 reviewed p.R1570C 1.000 130 0% 64 14.1% 46 26% probably_damaging(0.988) - - HMMPfam_DUF1086 MYH8 4626 genome.wustl.edu 37 17 10300257 10300257 + Missense_Mutation SNP C C A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_002472.2 -1 reviewed p.A1409S 1.000 333 0.3% 70 14.3% 0 - benign(0.006) tolerated(0.22) neutral(0.042) HMMPfam_Myosin_tail_1 MYH4 4622 genome.wustl.edu 37 17 10358949 10358949 + Missense_Mutation SNP T T C novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_017533.2 -1 validated p.Y719C 1.000 360 0% 69 11.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 PHF12 57649 genome.wustl.edu 37 17 27239531 27239531 + Silent SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_001033561.1 -1 validated p.N686 1.000 166 0% 23 17.4% 20 25% - - - NULL OMG 4974 genome.wustl.edu 37 17 29623149 29623149 + Missense_Mutation SNP A A C novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_002544.4 -1 validated p.F67L 0.998 543 0% 338 17.8% 0 - benign(0.025) tolerated(0.94) neutral(0.001) superfamily_SSF52058 RAB11FIP4 84440 genome.wustl.edu 37 17 29854926 29854927 + Frame_Shift_Del DEL AG AG - novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_032932.3 +1 validated p.K449fs 0.989:1.000 - - - - - - - - - NULL RHBDL3 162494 genome.wustl.edu 37 17 30611707 30611708 + Frame_Shift_Del DEL CA CA - novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 CA CA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_138328.2 +1 validated p.T56fs 1.000:1.000 - - - - - - - - - superfamily_SSF47473 NLE1 54475 genome.wustl.edu 37 17 33463460 33463460 + Silent SNP G G T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b ENST00000436188 -1 known p.S75* 1.000 144 0% 17 35.3% 10 50% - - - HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 UNC45B 146862 genome.wustl.edu 37 17 33504092 33504092 + Silent SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_173167.2 +1 validated p.H696 1.000 216 0% 59 25.4% 0 - - - - HMMSmart_SM00185,superfamily_ARM repeat MYO19 80179 genome.wustl.edu 37 17 34869254 34869254 + Silent SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_001033580.2 -1 validated p.T304 0.000 524 0% 40 12.5% 6 16.6% - - - HMMSmart_MYSc TOP2A 7153 genome.wustl.edu 37 17 38569116 38569116 + Missense_Mutation SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_001067.2 -1 reviewed p.M228I 1.000 468 0% 188 11.7% 8 12.5% possibly_damaging(0.941) deleterious(0) deleterious(0.831) HMMSmart_SM00433,superfamily_ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase KRT31 3881 genome.wustl.edu 37 17 39553196 39553196 + Missense_Mutation SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_002277.2 -1 reviewed p.A134T 1.000 472 0% 47 19.1% 1 100% benign(0.016) tolerated(0.11) neutral(0.272) HMMPfam_Filament CNTNAP1 8506 genome.wustl.edu 37 17 40840602 40840602 + Missense_Mutation SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_003632.2 +1 reviewed p.R477W 0.999 240 0.4% 48 14.6% 1 0% probably_damaging(0.971) deleterious(0.02) deleterious(0.796) HMMSmart_LamG,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2 HDAC5 10014 genome.wustl.edu 37 17 42170497 42170497 + Missense_Mutation SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_001015053.1 -1 reviewed p.G203S 1.000 257 0% 20 20% 12 33.3% probably_damaging(0.971) tolerated(0.16) deleterious(0.472) NULL ITGA3 3675 genome.wustl.edu 37 17 48166490 48166490 + Missense_Mutation SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_005501.2 +1 reviewed p.R1021Q 1.000 264 0% 45 11.1% 17 11.7% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) NULL STXBP4 252983 genome.wustl.edu 37 17 53237192 53237192 + Missense_Mutation SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_178509.5 +1 validated p.V528M 0.960 357 0% 149 26.8% 4 25% possibly_damaging(0.781) tolerated(0.12) deleterious(0.553) HMMSmart_SM00456,superfamily_WW domain BZRAP1 9256 genome.wustl.edu 37 17 56405069 56405069 + Silent SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_004758.2 -1 validated p.P71 0.000 109 0% 12 50% 1 0% - - - NULL MED13 9969 genome.wustl.edu 37 17 60038436 60038436 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_005121.2 -1 reviewed p.R1758* 1.000 440 0% 111 14.4% 1 0% - - - HMMPfam_TRAP_240kDa SEC14L1 6397 genome.wustl.edu 37 17 75192332 75192332 + Missense_Mutation SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_001039573.2 +1 reviewed p.P253L 0.998 210 0% 63 22.2% 12 33.3% probably_damaging(1) tolerated(0.1) deleterious(0.786) HMMPfam_CRAL_TRIO_N,superfamily_CRAL/TRIO N-terminal domain C18orf34 374864 genome.wustl.edu 37 18 30950109 30950109 + Missense_Mutation SNP T T C novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_001105528.1 -1 validated p.S85G 0.963 271 0% 120 15.8% 0 - possibly_damaging(0.892) deleterious(0) deleterious(0.796) NULL CCDC68 80323 genome.wustl.edu 37 18 52604148 52604148 + Silent SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_001143829.1 -1 validated p.N129 0.957 677 0% 116 13.8% 0 - - - - NULL RTTN 25914 genome.wustl.edu 37 18 67684647 67684647 + Silent SNP A A C rs141934309 by1000genomes TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_173630.3 -1 validated p.A2139 0.890 200 0% 176 10.8% 10 20% - - - superfamily_ARM repeat RTTN 25914 genome.wustl.edu 37 18 67860596 67860596 + Missense_Mutation SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_173630.3 -1 validated p.R312Q 1.000 262 0% 94 17% 1 0% probably_damaging(1) tolerated(0.11) deleterious(0.772) superfamily_ARM repeat LRG1 116844 genome.wustl.edu 37 19 4538383 4538383 + Missense_Mutation SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_052972.2 -1 validated p.P205S 0.000 259 0% 25 20% 45 31.1% benign(0) tolerated(0.87) neutral(0.001) HMMPfam_LRR_1,HMMSmart_LRR_TYP,superfamily_SSF52058 PCP2 126006 genome.wustl.edu 37 19 7696628 7696628 + Missense_Mutation SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_174895.1 -1 provisional p.A120T 0.244 95 0% 10 40% 10 50% probably_damaging(0.955) tolerated(0.16) neutral(0.458) NULL COL5A3 50509 genome.wustl.edu 37 19 10087907 10087907 + Missense_Mutation SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_015719.3 -1 reviewed p.A1096T 0.594 204 0% 66 13.6% 0 - possibly_damaging(0.609) tolerated(0.53) neutral(0.218) HMMPfam_Collagen DNMT1 1786 genome.wustl.edu 37 19 10273406 10273406 + Silent SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_001130823.1 -1 reviewed p.P315 0.116 995 0.1% 174 25.9% 13 30.7% - - - NULL AP1M2 10053 genome.wustl.edu 37 19 10689588 10689588 + Missense_Mutation SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_005498.4 -1 reviewed p.R290C 1.000 269 0% 62 14.5% 112 28.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Adap_comp_sub,superfamily_Second domain of Mu2 adaptin subunit (ap50) of ap2 adaptor MAST1 22983 genome.wustl.edu 37 19 12976255 12976255 + Silent SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_014975.2 +1 validated p.F588 0.970 229 0% 18 27.8% 0 - - - - HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase IL27RA 9466 genome.wustl.edu 37 19 14162734 14162734 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_004843.2 +1 reviewed p.W555* 1.000 99 0% 24 25% 7 28.5% - - - NULL NWD1 284434 genome.wustl.edu 37 19 16870199 16870199 + Missense_Mutation SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_001007525.2 +1 validated p.R510W 0.967 72 0% 25 36% 3 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL NCAN 1463 genome.wustl.edu 37 19 19360627 19360627 + Missense_Mutation SNP C C G novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_004386.2 +1 validated p.H1291Q 1.000 1410 0% 292 13.7% 0 - probably_damaging(0.962) deleterious(0.01) deleterious(0.810) NULL ZNF714 148206 genome.wustl.edu 37 19 21300605 21300605 + Missense_Mutation SNP C C A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b ENST00000291770 +1 known p.H379N 0.002 85 0% 35 11.4% 0 - benign(0) tolerated(0.29) neutral(0.029) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers MAG 4099 genome.wustl.edu 37 19 35786682 35786682 + Silent SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_002361.2 +1 reviewed p.P71 0.111 65 0% 14 35.7% 0 - - - - HMMSmart_IG,HMMPfam_V-set,superfamily_SSF48726 ATP4A 495 genome.wustl.edu 37 19 36049367 36049367 + Missense_Mutation SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_000704.2 -1 reviewed p.A466V 1.000 124 0% 51 13.7% 0 - possibly_damaging(0.909) deleterious(0) deleterious(0.806) HMMPfam_Hydrolase,superfamily_SSF56784,superfamily_SSF81660,superfamily_SSF81665 MLL4 9757 genome.wustl.edu 37 19 36228800 36228800 + Missense_Mutation SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_014727.1 +1 reviewed p.R2567C 1.000 320 0.3% 62 19.4% 21 47.6% probably_damaging(0.99) - - superfamily_SET domain ZNF540 163255 genome.wustl.edu 37 19 38103212 38103212 + Missense_Mutation SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_152606.3 +1 validated p.R344H 0.000 305 0.7% 56 12.5% 2 0% possibly_damaging(0.534) tolerated(0.22) neutral(0.223) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers PSMC4 5704 genome.wustl.edu 37 19 40485823 40485823 + Missense_Mutation SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_006503.2 +1 reviewed p.A258V 1.000 225 0% 74 21.6% 98 24.4% probably_damaging(0.96) deleterious(0) deleterious(0.848) HMMSmart_SM00382,HMMPfam_AAA,superfamily_P-loop containing nucleoside triphosphate hydrolases ENSG00000198251 0 genome.wustl.edu 37 19 41416487 41416487 + Missense_Mutation SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b ENST00000359667 -1 known p.G39S 0.993 160 0% 71 9.9% 0 - probably_damaging(0.999) tolerated(0.09) deleterious(0.787) HMMPfam_p450,superfamily_Cytochrome_P450 PSG3 5671 genome.wustl.edu 37 19 43243179 43243179 + Missense_Mutation SNP T T C novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_021016.3 -1 validated p.T43A 0.000 1144 0% 555 31.2% 0 - benign(0.002) tolerated(0.33) neutral(0.024) HMMSmart_IG,HMMPfam_V-set,superfamily_SSF48726 SRRM5 100170229 genome.wustl.edu 37 19 44118224 44118224 + Missense_Mutation SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_001145641.1 +1 validated p.D651N 0.000 322 0% 94 13.8% 0 - possibly_damaging(0.67) tolerated(0.58) neutral(0.242) NULL ZNF226 7769 genome.wustl.edu 37 19 44681655 44681655 + Missense_Mutation SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_001032372.1 +1 validated p.R747Q 0.724 643 0% 199 17.6% 8 37.5% probably_damaging(1) tolerated(0.14) deleterious(0.750) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 MARK4 57787 genome.wustl.edu 37 19 45781245 45781245 + Missense_Mutation SNP A A T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_031417.2 +1 provisional p.E284V 1.000 235 0% 33 12.1% 5 0% probably_damaging(0.996) deleterious(0.04) deleterious(0.810) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase SYMPK 8189 genome.wustl.edu 37 19 46351243 46351243 + Missense_Mutation SNP C C A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_004819.2 -1 reviewed p.R148L 0.988 111 0% 21 38.1% 23 52.1% benign(0.073) tolerated(0.13) neutral(0.258) superfamily_ARM repeat CCDC61 729440 genome.wustl.edu 37 19 46506338 46506338 + Missense_Mutation SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_001080402.1 +1 provisional p.R78Q 1.000 328 0% 51 35.3% 21 33.3% benign(0.287) tolerated(0.6) neutral(0.093) NULL LOC100287311 100287311 genome.wustl.edu 37 19 47823040 47823042 + Splice_Site DEL CTC CTC - novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b XM_002343688.1 -1 model e3-1 0.000:0.000:0.006 - - - - - - - - - - RPL18 6141 genome.wustl.edu 37 19 49119901 49119905 + Frame_Shift_Del DEL CAGCA CAGCA - rs111332848 TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 CAGCA CAGCA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b ENST00000450952 -1 known p.V125fs 0.000:0.000:0.000:0.000:0.000 - - - - - - - - - NULL KLK15 55554 genome.wustl.edu 37 19 51329095 51329095 + Missense_Mutation SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_017509.2 -1 reviewed p.C243Y 1.000 221 0% 197 19.8% 0 - possibly_damaging(0.943) deleterious(0.01) deleterious(0.793) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases ZNF841 284371 genome.wustl.edu 37 19 52569476 52569476 + Silent SNP A A G novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_001136499.1 -1 validated p.G553 0.000 326 0% 96 20.8% 3 33.3% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 PPP2R1A 5518 genome.wustl.edu 37 19 52705200 52705200 + Missense_Mutation SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_014225.5 +1 reviewed p.R28C 0.995 215 0% 37 16.2% 88 27.2% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ARM repeat ZNF845 91664 genome.wustl.edu 37 19 53856449 53856449 + Missense_Mutation SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_138374.1 +1 validated p.R841C 0.000 435 0% 138 16.7% 3 33.3% probably_damaging(0.997) tolerated(0.18) deleterious(0.522) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_Multiheme cytochromes SEC23B 10483 genome.wustl.edu 37 20 18541322 18541322 + Missense_Mutation SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_006363.4 +1 reviewed p.D748N 1.000 319 0% 94 13.8% 61 18% probably_damaging(0.987) deleterious(0) deleterious(0.881) superfamily_SSF82754 XRN2 22803 genome.wustl.edu 37 20 21307238 21307238 + Missense_Mutation SNP T T C novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_012255.3 +1 reviewed p.V105A 1.000 462 0% 139 16.5% 11 27.2% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_XRN_N MYL9 10398 genome.wustl.edu 37 20 35176484 35176484 + Silent SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_006097.3 +1 reviewed p.P78 0.006 83 0% 24 33.3% 38 2.6% - - - superfamily_EF-hand NDRG3 57446 genome.wustl.edu 37 20 35282068 35282068 + Missense_Mutation SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_032013.2 -1 validated p.R328Q 1.000 190 0% 23 26.1% 21 9.5% probably_damaging(0.99) deleterious(0.01) deleterious(0.847) NULL CTNNBL1 56259 genome.wustl.edu 37 20 36431372 36431372 + Silent SNP T T C novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_030877.3 +1 reviewed p.L379 0.994 395 0% 87 13.8% 36 16.6% - - - superfamily_ARM repeat RALGAPB 57148 genome.wustl.edu 37 20 37150144 37150144 + Silent SNP T T C novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_020336.2 +1 validated p.I474 1.000 366 0% 181 31.5% 5 20% - - - NULL MYBL2 4605 genome.wustl.edu 37 20 42320905 42320905 + Silent SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_002466.2 +1 reviewed p.L203 0.997 95 0% 28 39.3% 12 41.6% - - - NULL SLC12A5 57468 genome.wustl.edu 37 20 44673611 44673611 + Silent SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_001134771.1 +1 reviewed p.G490 0.185 162 0.6% 32 31.2% 0 - - - - HMMPfam_AA_permease ELMO2 63916 genome.wustl.edu 37 20 45017820 45017820 + Missense_Mutation SNP A A G novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_133171.3 -1 reviewed p.S95P 0.991 176 1.1% 76 11.8% 3 0% possibly_damaging(0.782) tolerated(0.16) neutral(0.352) superfamily_ARM repeat SULF2 55959 genome.wustl.edu 37 20 46301053 46301053 + Frame_Shift_Del DEL G G - novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_018837.3 -1 validated p.L489fs 0.342 - - - - - - - - - superfamily_Alkaline phosphatase-like SULF2 55959 genome.wustl.edu 37 20 46301060 46301061 + Frame_Shift_Ins INS - - C novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_018837.3 -1 validated p.S486fs 0.016:0.002 - - - - - - - - - superfamily_Alkaline phosphatase-like RTDR1 27156 genome.wustl.edu 37 22 23401683 23401683 + Missense_Mutation SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_014433.2 -1 reviewed p.R335Q 0.029 215 0% 33 21.2% 7 0% possibly_damaging(0.87) tolerated(0.09) deleterious(0.635) NULL NEFH 4744 genome.wustl.edu 37 22 29884884 29884884 + Missense_Mutation SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_021076.3 +1 reviewed p.P419S 0.982 254 0% 39 33.3% 0 - unknown(0) tolerated(0.52) - NULL SLC5A1 6523 genome.wustl.edu 37 22 32498161 32498161 + Silent SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_000343.3 +1 reviewed p.F534 0.577 951 0% 495 17% 21 57.1% - - - NULL ENSG00000210140 0 genome.wustl.edu 37 MT 5801 5801 + RNA SNP T T C novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b ENST00000387405 -1 novel NULL NULL 472 0% 1000 88.1% 1794 82.9% - - - - NLGN4X 57502 genome.wustl.edu 37 X 5821544 5821544 + Missense_Mutation SNP G G T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_020742.2 -1 reviewed p.P392H 1.000 214 0% 32 34.4% 1 0% benign(0.138) deleterious(0.03) neutral(0.376) HMMPfam_COesterase,superfamily_alpha/beta-Hydrolases PDK3 5165 genome.wustl.edu 37 X 24545705 24545705 + Silent SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_001142386.2 +1 reviewed p.A255 0.978 501 0% 272 19.1% 3 33.3% - - - HMMPfam_HATPase_c,HMMSmart_HATPase_c,superfamily_ATP_bd_ATPase MAGEB18 286514 genome.wustl.edu 37 X 26157355 26157355 + Missense_Mutation SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_173699.3 +1 validated p.A85T 0.000 128 0% 25 40% 0 - benign(0.004) tolerated(0.52) neutral(0.009) NULL MED14 9282 genome.wustl.edu 37 X 40511081 40511081 + Silent SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_004229.3 -1 reviewed p.L1448 1.000 248 0% 102 21.6% 14 0% - - - NULL SYN1 6853 genome.wustl.edu 37 X 47435612 47435612 + Missense_Mutation SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_006950.3 -1 reviewed p.T359M 0.999 214 0% 136 16.2% 0 - probably_damaging(0.997) deleterious(0.02) deleterious(0.849) HMMPfam_Synapsin_C,superfamily_Glutathione synthetase ATP-binding domain-like SYN1 6853 genome.wustl.edu 37 X 47435801 47435801 + Missense_Mutation SNP T T C novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_006950.3 -1 reviewed p.T329A 1.000 293 0% 115 13% 0 - possibly_damaging(0.666) deleterious(0.01) deleterious(0.641) HMMPfam_Synapsin_C,superfamily_Glutathione synthetase ATP-binding domain-like NUDT10 170685 genome.wustl.edu 37 X 51076000 51076000 + Silent SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b ENST00000356450 +1 known p.A61 0.972 391 0% 36 11.1% 0 - - - - HMMPfam_NUDIX,superfamily_Nudix,PatternScan_NUDIX GNL3L 54552 genome.wustl.edu 37 X 54570689 54570689 + Missense_Mutation SNP T T A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_019067.5 +1 reviewed p.L187Q 1.000 455 0% 113 19.5% 2 50% probably_damaging(0.995) deleterious(0) deleterious(0.902) superfamily_SSF52540 ERCC6L 54821 genome.wustl.edu 37 X 71427163 71427163 + Missense_Mutation SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_017669.2 -1 validated p.S485L 0.486 419 0% 200 11.5% 0 - probably_damaging(0.999) tolerated(0.15) deleterious(0.732) superfamily_SSF52540 LOC100287854 100287854 genome.wustl.edu 37 X 102864064 102864064 + Missense_Mutation SNP T T C novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b XM_002343834.1 -1 model p.Q149R 0.957 1600 0.1% 894 13.2% 28 0% - - - NULL CXorf57 55086 genome.wustl.edu 37 X 105881028 105881028 + Missense_Mutation SNP A A G novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_018015.5 +1 validated p.K483E 0.992 333 0% 104 18.3% 0 - benign(0.054) tolerated(0.05) neutral(0.349) NULL RBMX 27316 genome.wustl.edu 37 X 135957703 135957703 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_002139.3 -1 reviewed p.R195* 1.000 338 0% 93 15.1% 98 0% - - - HMMPfam_RBM1CTR LDOC1 23641 genome.wustl.edu 37 X 140271000 140271000 + Silent SNP C C T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_012317.2 -1 reviewed p.V69 1.000 101 0% 29 20.7% 37 0% - - - NULL GDI1 2664 genome.wustl.edu 37 X 153668811 153668811 + Missense_Mutation SNP A A T novel TCGA-BS-A0UM-01A-11W-A10C-09 TCGA-BS-A0UM-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0e72b1a-d0c2-4947-a5eb-faef1d0249c9 de026770-8a13-468e-9146-d5e2c3e8df1b NM_001493.2 +1 reviewed p.Y226F 1.000 334 0% 26 30.8% 57 0% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_GDI,superfamily_FAD/NAD(P)-binding domain