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 PTCH2 8643 genome.wustl.edu 37 1 45294893 45294893 + Missense_Mutation SNP G G A novel TCGA-D1-A165-01A-11D-A12J-09 TCGA-D1-A165-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a57139a-a826-42b8-bfb6-dbc5556ed389 5cd8a1ac-8281-4247-a3b4-4e813294910f NM_003738.4 -1 reviewed p.A436V 1.000 16 0% 20 35% 3 0% possibly_damaging(0.759) deleterious(0.01) deleterious(0.687) HMMPfam_Patched,superfamily_Multidrug efflux transporter AcrB transmembrane domain BLZF1 8548 genome.wustl.edu 37 1 169347745 169347745 + Nonsense_Mutation SNP C C T novel TCGA-D1-A165-01A-11D-A12J-09 TCGA-D1-A165-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a57139a-a826-42b8-bfb6-dbc5556ed389 5cd8a1ac-8281-4247-a3b4-4e813294910f NM_003666.2 +1 validated p.R216* 1.000 116 0.9% 204 37.7% 6 0% - - - HMMPfam_DASH_Hsk3 PTPN14 5784 genome.wustl.edu 37 1 214557868 214557868 + Missense_Mutation SNP C C A novel TCGA-D1-A165-01A-11D-A12J-09 TCGA-D1-A165-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a57139a-a826-42b8-bfb6-dbc5556ed389 5cd8a1ac-8281-4247-a3b4-4e813294910f NM_005401.4 -1 reviewed p.D444Y 1.000 97 0% 169 12.4% 8 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL SIPA1L2 57568 genome.wustl.edu 37 1 232619629 232619629 + Silent SNP C C T novel TCGA-D1-A165-01A-11D-A12J-09 TCGA-D1-A165-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a57139a-a826-42b8-bfb6-dbc5556ed389 5cd8a1ac-8281-4247-a3b4-4e813294910f NM_020808.3 -1 validated p.A630 0.060 239 0% 313 18.5% 10 0% - - - HMMPfam_Rap_GAP,superfamily_Rap/Ran-GAP (Pfam 02145) KLHL29 114818 genome.wustl.edu 37 2 23865406 23865406 + Missense_Mutation SNP C C T novel TCGA-D1-A165-01A-11D-A12J-09 TCGA-D1-A165-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a57139a-a826-42b8-bfb6-dbc5556ed389 5cd8a1ac-8281-4247-a3b4-4e813294910f ENST00000486442 +1 known p.P209L 1.000 18 0% 21 23.8% 1 0% benign(0) tolerated(1) - NULL SPRED2 200734 genome.wustl.edu 37 2 65540827 65540827 + Silent SNP C C T novel TCGA-D1-A165-01A-11D-A12J-09 TCGA-D1-A165-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a57139a-a826-42b8-bfb6-dbc5556ed389 5cd8a1ac-8281-4247-a3b4-4e813294910f NM_181784.2 -1 validated p.S355 0.992 47 0% 59 42.4% 14 28.5% - - - HMMPfam_Sprouty INPP4A 3631 genome.wustl.edu 37 2 99185132 99185133 + Splice_Site INS - - T novel TCGA-D1-A165-01A-11D-A12J-09 TCGA-D1-A165-10A-01D-A12J-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a57139a-a826-42b8-bfb6-dbc5556ed389 5cd8a1ac-8281-4247-a3b4-4e813294910f NM_001134224.1 +1 reviewed e21+1 1.000:1.000 - - - - - - - - - - INPP4A 3631 genome.wustl.edu 37 2 99193476 99193476 + Missense_Mutation SNP C C T novel TCGA-D1-A165-01A-11D-A12J-09 TCGA-D1-A165-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a57139a-a826-42b8-bfb6-dbc5556ed389 5cd8a1ac-8281-4247-a3b4-4e813294910f NM_001134224.1 +1 reviewed p.R891W 1.000 21 0% 23 39.1% 7 28.5% probably_damaging(1) deleterious(0) deleterious(0.945) NULL LIMS2 55679 genome.wustl.edu 37 2 128398556 128398556 + Missense_Mutation SNP A A T novel TCGA-D1-A165-01A-11D-A12J-09 TCGA-D1-A165-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a57139a-a826-42b8-bfb6-dbc5556ed389 5cd8a1ac-8281-4247-a3b4-4e813294910f NM_017980.4 -1 validated p.V247D 1.000 74 0% 83 39.8% 17 11.7% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_LIM,HMMSmart_LIM,PatternScan_LIM_DOMAIN_1,superfamily_SSF57716 TTN 7273 genome.wustl.edu 37 2 179422944 179422944 + Missense_Mutation SNP A A T rs143975327 by1000genomes TCGA-D1-A165-01A-11D-A12J-09 TCGA-D1-A165-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a57139a-a826-42b8-bfb6-dbc5556ed389 5cd8a1ac-8281-4247-a3b4-4e813294910f ENST00000356127 -1 known p.M26476K 1.000 67 0% 75 37.3% 0 - possibly_damaging(0.892) - - HMMPfam_I-set MYL1 4632 genome.wustl.edu 37 2 211179707 211179707 + Silent SNP C C A novel TCGA-D1-A165-01A-11D-A12J-09 TCGA-D1-A165-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a57139a-a826-42b8-bfb6-dbc5556ed389 5cd8a1ac-8281-4247-a3b4-4e813294910f NM_079420.2 -1 reviewed p.P20 0.014 27 0% 42 16.7% 0 - - - - NULL USP37 57695 genome.wustl.edu 37 2 219346797 219346797 + Missense_Mutation SNP C C T novel TCGA-D1-A165-01A-11D-A12J-09 TCGA-D1-A165-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a57139a-a826-42b8-bfb6-dbc5556ed389 5cd8a1ac-8281-4247-a3b4-4e813294910f NM_020935.2 -1 validated p.A611T 0.295 212 0% 257 35.8% 1 100% benign(0.019) tolerated(0.33) neutral(0.025) HMMPfam_UCH,superfamily_Cysteine proteinases XIRP1 165904 genome.wustl.edu 37 3 39229630 39229630 + Missense_Mutation SNP C C G novel TCGA-D1-A165-01A-11D-A12J-09 TCGA-D1-A165-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a57139a-a826-42b8-bfb6-dbc5556ed389 5cd8a1ac-8281-4247-a3b4-4e813294910f NM_194293.2 -1 provisional p.G436A 1.000 82 0% 80 45% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Xin CTNNB1 1499 genome.wustl.edu 37 3 41266101 41266101 + Missense_Mutation SNP C C A rs121913400 byCluster TCGA-D1-A165-01A-11D-A12J-09 TCGA-D1-A165-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a57139a-a826-42b8-bfb6-dbc5556ed389 5cd8a1ac-8281-4247-a3b4-4e813294910f NM_001098209.1 +1 reviewed p.S33Y 1.000 89 0% 79 17.7% 131 28.2% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PTH1R 5745 genome.wustl.edu 37 3 46942522 46942522 + Silent SNP C C T novel TCGA-D1-A165-01A-11D-A12J-09 TCGA-D1-A165-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a57139a-a826-42b8-bfb6-dbc5556ed389 5cd8a1ac-8281-4247-a3b4-4e813294910f NM_000316.2 +1 reviewed p.P332 0.470 39 0% 46 34.8% 0 - - - - HMMPfam_7tm_2,superfamily_SSF81321 MECOM 2122 genome.wustl.edu 37 3 168834410 168834410 + Missense_Mutation SNP G G C novel TCGA-D1-A165-01A-11D-A12J-09 TCGA-D1-A165-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a57139a-a826-42b8-bfb6-dbc5556ed389 5cd8a1ac-8281-4247-a3b4-4e813294910f ENST00000494292 -1 known p.T417R 1.000 803 0% 785 25.7% 31 29% probably_damaging(0.999) deleterious(0.03) deleterious(0.855) HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers MECOM 2122 genome.wustl.edu 37 3 168834483 168834483 + Missense_Mutation SNP G G T novel TCGA-D1-A165-01A-11D-A12J-09 TCGA-D1-A165-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a57139a-a826-42b8-bfb6-dbc5556ed389 5cd8a1ac-8281-4247-a3b4-4e813294910f ENST00000494292 -1 known p.R393S 1.000 676 0% 706 39.4% 39 28.2% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers AFM 173 genome.wustl.edu 37 4 74354475 74354475 + Missense_Mutation SNP C C T novel TCGA-D1-A165-01A-11D-A12J-09 TCGA-D1-A165-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a57139a-a826-42b8-bfb6-dbc5556ed389 5cd8a1ac-8281-4247-a3b4-4e813294910f NM_001133.2 +1 reviewed p.T281M 0.001 317 0% 352 41.2% 0 - benign(0.004) tolerated(0.09) neutral(0.296) superfamily_Serum albumin-like,HMMPfam_Serum_albumin,HMMSmart_SM00103 ANP32C 23520 genome.wustl.edu 37 4 165118819 165118819 + Silent SNP C C T novel TCGA-D1-A165-01A-11D-A12J-09 TCGA-D1-A165-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a57139a-a826-42b8-bfb6-dbc5556ed389 5cd8a1ac-8281-4247-a3b4-4e813294910f NM_012403.1 -1 reviewed p.A15 0.994 182 0% 211 39.3% 0 - - - - superfamily_L domain-like KIAA0947 23379 genome.wustl.edu 37 5 5476115 5476115 + Nonsense_Mutation SNP G G A novel TCGA-D1-A165-01A-11D-A12J-09 TCGA-D1-A165-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a57139a-a826-42b8-bfb6-dbc5556ed389 5cd8a1ac-8281-4247-a3b4-4e813294910f NM_015325.1 +1 validated p.W2148* 1.000 260 0% 280 18.2% 8 25% - - - NULL HEATR7B2 133558 genome.wustl.edu 37 5 41058234 41058234 + Silent SNP G G A novel TCGA-D1-A165-01A-11D-A12J-09 TCGA-D1-A165-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a57139a-a826-42b8-bfb6-dbc5556ed389 5cd8a1ac-8281-4247-a3b4-4e813294910f NM_173489.4 -1 validated p.Y229 0.150 127 0% 185 20% 0 - - - - superfamily_ARM repeat PIK3R1 5295 genome.wustl.edu 37 5 67591276 67591278 + In_Frame_Del DEL AAG AAG - novel TCGA-D1-A165-01A-11D-A12J-09 TCGA-D1-A165-10A-01D-A12J-09 AAG AAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a57139a-a826-42b8-bfb6-dbc5556ed389 5cd8a1ac-8281-4247-a3b4-4e813294910f NM_181523.1 +1 reviewed p.K593in_frame_del 1.000:1.000:1.000 - - - - - - - - - NULL PIK3R1 5295 genome.wustl.edu 37 5 67592107 67592108 + Frame_Shift_Ins INS - - C novel TCGA-D1-A165-01A-11D-A12J-09 TCGA-D1-A165-10A-01D-A12J-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a57139a-a826-42b8-bfb6-dbc5556ed389 5cd8a1ac-8281-4247-a3b4-4e813294910f NM_181523.1 +1 reviewed p.R641fs 0.930:0.990 - - - - - - - - - HMMPfam_SH2,HMMSmart_SM00252,superfamily_SH2 domain PIK3R1 5295 genome.wustl.edu 37 5 67592109 67592109 + Missense_Mutation SNP G G C novel TCGA-D1-A165-01A-11D-A12J-09 TCGA-D1-A165-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a57139a-a826-42b8-bfb6-dbc5556ed389 5cd8a1ac-8281-4247-a3b4-4e813294910f NM_181523.1 +1 reviewed p.R642P 0.991 182 0% 230 21.7% 108 18.5% probably_damaging(1) tolerated(1) deleterious(0.500) HMMPfam_SH2,HMMSmart_SM00252,superfamily_SH2 domain IQGAP2 10788 genome.wustl.edu 37 5 75970370 75970370 + Silent SNP C C A novel TCGA-D1-A165-01A-11D-A12J-09 TCGA-D1-A165-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a57139a-a826-42b8-bfb6-dbc5556ed389 5cd8a1ac-8281-4247-a3b4-4e813294910f NM_006633.2 +1 validated p.I1121 1.000 104 1% 104 33.7% 22 63.6% - - - HMMPfam_RasGAP,HMMSmart_SM00323,superfamily_GTPase activation domain GAP IMPG1 3617 genome.wustl.edu 37 6 76633351 76633351 + Silent SNP C C T novel TCGA-D1-A165-01A-11D-A12J-09 TCGA-D1-A165-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a57139a-a826-42b8-bfb6-dbc5556ed389 5cd8a1ac-8281-4247-a3b4-4e813294910f NM_001563.2 -1 provisional p.K772 1.000 434 0% 440 33% 0 - - - - NULL LOC100132308 100132308 genome.wustl.edu 37 7 63020550 63020550 + Missense_Mutation SNP G G A novel TCGA-D1-A165-01A-11D-A12J-09 TCGA-D1-A165-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a57139a-a826-42b8-bfb6-dbc5556ed389 5cd8a1ac-8281-4247-a3b4-4e813294910f XM_001715240.2 +1 model p.V234I 1.000 29 0% 37 29.7% 0 - - - - HMMPfam_Nucleoside_tran TMEM60 85025 genome.wustl.edu 37 7 77423488 77423488 + Missense_Mutation SNP C C T novel TCGA-D1-A165-01A-11D-A12J-09 TCGA-D1-A165-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a57139a-a826-42b8-bfb6-dbc5556ed389 5cd8a1ac-8281-4247-a3b4-4e813294910f NM_032936.3 -1 validated p.R68Q 1.000 198 0% 293 36.2% 39 38.4% probably_damaging(0.984) tolerated(0.51) neutral(0.440) NULL AP4M1 9179 genome.wustl.edu 37 7 99701087 99701087 + Missense_Mutation SNP C C G novel TCGA-D1-A165-01A-11D-A12J-09 TCGA-D1-A165-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a57139a-a826-42b8-bfb6-dbc5556ed389 5cd8a1ac-8281-4247-a3b4-4e813294910f NM_004722.3 +1 reviewed p.T136R 0.998 168 0% 197 28.4% 34 26.4% benign(0.221) deleterious(0.01) neutral(0.428) HMMPfam_Clat_adaptor_s,superfamily_Longin_like TRIM35 23087 genome.wustl.edu 37 8 27145187 27145187 + Silent SNP G G A novel TCGA-D1-A165-01A-11D-A12J-09 TCGA-D1-A165-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a57139a-a826-42b8-bfb6-dbc5556ed389 5cd8a1ac-8281-4247-a3b4-4e813294910f NM_171982.3 -1 validated p.H454 0.875 44 0% 51 41.2% 8 62.5% - - - HMMPfam_SPRY,HMMSmart_SM00449 EXTL3 2137 genome.wustl.edu 37 8 28588822 28588822 + Missense_Mutation SNP A A T novel TCGA-D1-A165-01A-11D-A12J-09 TCGA-D1-A165-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a57139a-a826-42b8-bfb6-dbc5556ed389 5cd8a1ac-8281-4247-a3b4-4e813294910f NM_001440.2 +1 provisional p.D744V 1.000 137 0% 201 52.7% 34 55.8% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Glyco_transf_64,superfamily_Nucleotide-diphospho-sugar transferases MTSS1 9788 genome.wustl.edu 37 8 125565534 125565534 + Missense_Mutation SNP C C A novel TCGA-D1-A165-01A-11D-A12J-09 TCGA-D1-A165-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a57139a-a826-42b8-bfb6-dbc5556ed389 5cd8a1ac-8281-4247-a3b4-4e813294910f NM_014751.4 -1 validated p.G656V 0.005 129 0% 230 33.9% 4 25% benign(0.002) deleterious(0.02) neutral(0.383) NULL TMEM8B 51754 genome.wustl.edu 37 9 35842567 35842567 + Silent SNP C C T novel TCGA-D1-A165-01A-11D-A12J-09 TCGA-D1-A165-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a57139a-a826-42b8-bfb6-dbc5556ed389 5cd8a1ac-8281-4247-a3b4-4e813294910f NM_001042589.1 +1 provisional p.N44 0.998 55 0% 57 33.3% 13 46.1% - - - NULL VPS13A 23230 genome.wustl.edu 37 9 79954784 79954788 + Frame_Shift_Del DEL TTCTC TTCTC - novel TCGA-D1-A165-01A-11D-A12J-09 TCGA-D1-A165-10A-01D-A12J-09 TTCTC TTCTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a57139a-a826-42b8-bfb6-dbc5556ed389 5cd8a1ac-8281-4247-a3b4-4e813294910f NM_033305.2 +1 reviewed p.L2245fs 1.000:1.000:1.000:1.000:0.933 - - - - - - - - - HMMPfam_DUF1162 C9orf79 286234 genome.wustl.edu 37 9 90500709 90500709 + Missense_Mutation SNP G G A novel TCGA-D1-A165-01A-11D-A12J-09 TCGA-D1-A165-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a57139a-a826-42b8-bfb6-dbc5556ed389 5cd8a1ac-8281-4247-a3b4-4e813294910f NM_178828.4 +1 validated p.R436H 0.001 32 0% 44 40.9% 0 - benign(0.027) tolerated(0.56) neutral(0.008) NULL DBC1 1620 genome.wustl.edu 37 9 121929366 121929366 + Missense_Mutation SNP C C T novel TCGA-D1-A165-01A-11D-A12J-09 TCGA-D1-A165-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a57139a-a826-42b8-bfb6-dbc5556ed389 5cd8a1ac-8281-4247-a3b4-4e813294910f NM_014618.2 -1 validated p.C761Y 1.000 285 0% 290 14.1% 0 - possibly_damaging(0.8) deleterious(0) deleterious(0.746) NULL PCDH15 65217 genome.wustl.edu 37 10 55582088 55582088 + Missense_Mutation SNP C C T rs111033463 byCluster TCGA-D1-A165-01A-11D-A12J-09 TCGA-D1-A165-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a57139a-a826-42b8-bfb6-dbc5556ed389 5cd8a1ac-8281-4247-a3b4-4e813294910f NM_001142763.1 -1 reviewed p.V1807I 0.000 324 0% 472 17.8% 0 - unknown(0) deleterious(0) - NULL PTEN 5728 genome.wustl.edu 37 10 89692850 89692850 + Missense_Mutation SNP C C G novel TCGA-D1-A165-01A-11D-A12J-09 TCGA-D1-A165-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a57139a-a826-42b8-bfb6-dbc5556ed389 5cd8a1ac-8281-4247-a3b4-4e813294910f ENST00000371953 +1 known p.L112V 1.000 316 0% 531 36.7% 14 7.1% possibly_damaging(0.86) deleterious(0) deleterious(0.777) HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II PTEN 5728 genome.wustl.edu 37 10 89717757 89717758 + Frame_Shift_Del DEL AG AG - novel TCGA-D1-A165-01A-11D-A12J-09 TCGA-D1-A165-10A-01D-A12J-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a57139a-a826-42b8-bfb6-dbc5556ed389 5cd8a1ac-8281-4247-a3b4-4e813294910f ENST00000371953 +1 known p.N262fs 1.000:1.000 - - - - - - - - - superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_PTEN_C2 CTNND1 1500 genome.wustl.edu 37 11 57564458 57564458 + Missense_Mutation SNP G G A novel TCGA-D1-A165-01A-11D-A12J-09 TCGA-D1-A165-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a57139a-a826-42b8-bfb6-dbc5556ed389 5cd8a1ac-8281-4247-a3b4-4e813294910f NM_001085458.1 +1 validated p.R317H 0.998 21 0% 29 37.9% 70 51.4% probably_damaging(1) tolerated(0.1) deleterious(0.786) NULL SLC22A6 9356 genome.wustl.edu 37 11 62748503 62748503 + Missense_Mutation SNP G G A novel TCGA-D1-A165-01A-11D-A12J-09 TCGA-D1-A165-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a57139a-a826-42b8-bfb6-dbc5556ed389 5cd8a1ac-8281-4247-a3b4-4e813294910f NM_004790.3 -1 reviewed p.R331C 1.000 45 0% 73 35.6% 0 - probably_damaging(1) tolerated(0.1) deleterious(0.786) HMMPfam_MFS_1,superfamily_MFS general substrate transporter RNF121 55298 genome.wustl.edu 37 11 71701743 71701743 + Missense_Mutation SNP T T C novel TCGA-D1-A165-01A-11D-A12J-09 TCGA-D1-A165-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a57139a-a826-42b8-bfb6-dbc5556ed389 5cd8a1ac-8281-4247-a3b4-4e813294910f NM_018320.4 +1 reviewed p.Y203H 1.000 173 1.2% 199 28.6% 27 18.5% benign(0.001) tolerated(0.41) neutral(0.015) superfamily_SSF57850 TYR 7299 genome.wustl.edu 37 11 88911897 88911897 + Missense_Mutation SNP A A T novel TCGA-D1-A165-01A-11D-A12J-09 TCGA-D1-A165-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a57139a-a826-42b8-bfb6-dbc5556ed389 5cd8a1ac-8281-4247-a3b4-4e813294910f NM_000372.4 +1 reviewed p.N259I 1.000 114 0% 131 27.5% 0 - benign(0.115) deleterious(0.05) neutral(0.354) HMMPfam_Tyrosinase,superfamily_Di-copper centre-containing domain PLCZ1 89869 genome.wustl.edu 37 12 18837147 18837147 + Missense_Mutation SNP C C G novel TCGA-D1-A165-01A-11D-A12J-09 TCGA-D1-A165-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a57139a-a826-42b8-bfb6-dbc5556ed389 5cd8a1ac-8281-4247-a3b4-4e813294910f NM_033123.2 -1 provisional p.R553P 1.000 257 0% 273 20.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) SCN8A 6334 genome.wustl.edu 37 12 52200163 52200163 + Missense_Mutation SNP C C G novel TCGA-D1-A165-01A-11D-A12J-09 TCGA-D1-A165-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a57139a-a826-42b8-bfb6-dbc5556ed389 5cd8a1ac-8281-4247-a3b4-4e813294910f NM_014191.2 +1 reviewed p.I1631M 1.000 244 0% 292 21.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels DRAM1 55332 genome.wustl.edu 37 12 102302063 102302063 + Missense_Mutation SNP T T C novel TCGA-D1-A165-01A-11D-A12J-09 TCGA-D1-A165-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a57139a-a826-42b8-bfb6-dbc5556ed389 5cd8a1ac-8281-4247-a3b4-4e813294910f NM_018370.2 +1 reviewed p.C148R 0.512 272 0% 319 40.1% 35 60% probably_damaging(0.964) tolerated(0.38) neutral(0.424) HMMPfam_Frag1 GPR133 283383 genome.wustl.edu 37 12 131498854 131498854 + Missense_Mutation SNP C C T novel TCGA-D1-A165-01A-11D-A12J-09 TCGA-D1-A165-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a57139a-a826-42b8-bfb6-dbc5556ed389 5cd8a1ac-8281-4247-a3b4-4e813294910f NM_198827.3 +1 validated p.P481L 0.226 118 0% 125 44.8% 2 0% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL NYNRIN 57523 genome.wustl.edu 37 14 24885812 24885812 + Missense_Mutation SNP C C G rs150242696 by1000genomes TCGA-D1-A165-01A-11D-A12J-09 TCGA-D1-A165-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a57139a-a826-42b8-bfb6-dbc5556ed389 5cd8a1ac-8281-4247-a3b4-4e813294910f NM_025081.2 +1 validated p.I1619M 0.004 52 0% 47 36.2% 4 50% probably_damaging(0.996) tolerated(0.18) deleterious(0.518) superfamily_Ribonuclease H-like ACTN1 87 genome.wustl.edu 37 14 69346747 69346747 + Missense_Mutation SNP G G A novel TCGA-D1-A165-01A-11D-A12J-09 TCGA-D1-A165-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a57139a-a826-42b8-bfb6-dbc5556ed389 5cd8a1ac-8281-4247-a3b4-4e813294910f NM_001130004.1 -1 reviewed p.R738W 1.000 120 0% 128 33.6% 103 33% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Spectrin BMF 90427 genome.wustl.edu 37 15 40398146 40398146 + Nonsense_Mutation SNP G G A novel TCGA-D1-A165-01A-11D-A12J-09 TCGA-D1-A165-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a57139a-a826-42b8-bfb6-dbc5556ed389 5cd8a1ac-8281-4247-a3b4-4e813294910f NM_001003940.1 -1 reviewed p.Q48* 1.000 82 0% 90 32.2% 18 44.4% - - - NULL TRAP1 10131 genome.wustl.edu 37 16 3721754 3721754 + Missense_Mutation SNP G G A novel TCGA-D1-A165-01A-11D-A12J-09 TCGA-D1-A165-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a57139a-a826-42b8-bfb6-dbc5556ed389 5cd8a1ac-8281-4247-a3b4-4e813294910f NM_016292.2 -1 validated p.R402W 1.000 29 0% 40 25% 187 48.6% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Ribosomal_S5_D2-typ_fold,HMMPfam_HSP90 SMG1 23049 genome.wustl.edu 37 16 18859335 18859335 + Missense_Mutation SNP T T C novel TCGA-D1-A165-01A-11D-A12J-09 TCGA-D1-A165-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a57139a-a826-42b8-bfb6-dbc5556ed389 5cd8a1ac-8281-4247-a3b4-4e813294910f NM_015092.4 -1 reviewed p.I1882V 1.000 129 0% 169 42.6% 1 100% benign(0.007) tolerated(0.66) neutral(0.003) NULL RBBP6 5930 genome.wustl.edu 37 16 24573186 24573188 + In_Frame_Del DEL ACT ACT - novel TCGA-D1-A165-01A-11D-A12J-09 TCGA-D1-A165-10A-01D-A12J-09 ACT ACT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a57139a-a826-42b8-bfb6-dbc5556ed389 5cd8a1ac-8281-4247-a3b4-4e813294910f NM_006910.4 +1 reviewed p.L332in_frame_del 0.964:0.958:0.919 - - - - - - - - - NULL SLC16A5 9121 genome.wustl.edu 37 17 73096653 73096653 + Missense_Mutation SNP G G A novel TCGA-D1-A165-01A-11D-A12J-09 TCGA-D1-A165-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a57139a-a826-42b8-bfb6-dbc5556ed389 5cd8a1ac-8281-4247-a3b4-4e813294910f NM_004695.2 +1 provisional p.A299T 0.000 68 0% 86 37.2% 13 46.1% benign(0.025) tolerated(0.37) neutral(0.020) HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter PRAM1 84106 genome.wustl.edu 37 19 8555632 8555632 + Silent SNP C C T rs180927898 by1000genomes TCGA-D1-A165-01A-11D-A12J-09 TCGA-D1-A165-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a57139a-a826-42b8-bfb6-dbc5556ed389 5cd8a1ac-8281-4247-a3b4-4e813294910f NM_032152.3 -1 reviewed p.G583 1.000 42 0% 58 29.3% 3 100% - - - superfamily_SH3-domain FDX1L 112812 genome.wustl.edu 37 19 10421272 10421272 + Missense_Mutation SNP G G A novel TCGA-D1-A165-01A-11D-A12J-09 TCGA-D1-A165-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a57139a-a826-42b8-bfb6-dbc5556ed389 5cd8a1ac-8281-4247-a3b4-4e813294910f NM_001031734.2 -1 validated p.R148W 0.853 102 0% 102 25.5% 50 20% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Fer2,superfamily_Ferredoxin ZNF490 57474 genome.wustl.edu 37 19 12691749 12691749 + Silent SNP G G A novel TCGA-D1-A165-01A-11D-A12J-09 TCGA-D1-A165-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a57139a-a826-42b8-bfb6-dbc5556ed389 5cd8a1ac-8281-4247-a3b4-4e813294910f NM_020714.2 -1 validated p.H380 0.042 135 0% 142 36.6% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF461 92283 genome.wustl.edu 37 19 37129666 37129666 + Silent SNP G G A novel TCGA-D1-A165-01A-11D-A12J-09 TCGA-D1-A165-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a57139a-a826-42b8-bfb6-dbc5556ed389 5cd8a1ac-8281-4247-a3b4-4e813294910f NM_153257.2 -1 validated p.C527 0.133 203 0.5% 229 17.9% 4 0% - - - HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers CALM3 808 genome.wustl.edu 37 19 47111527 47111527 + Silent SNP G G A novel TCGA-D1-A165-01A-11D-A12J-09 TCGA-D1-A165-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a57139a-a826-42b8-bfb6-dbc5556ed389 5cd8a1ac-8281-4247-a3b4-4e813294910f NM_005184.2 +1 validated p.V36 1.000 84 0% 68 22.1% 324 19.7% - - - HMMSmart_SM00054,HMMPfam_efhand,superfamily_EF-hand ARHGAP35 2909 genome.wustl.edu 37 19 47421960 47421960 + Nonsense_Mutation SNP C C T novel TCGA-D1-A165-01A-11D-A12J-09 TCGA-D1-A165-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a57139a-a826-42b8-bfb6-dbc5556ed389 5cd8a1ac-8281-4247-a3b4-4e813294910f NM_004491.4 +1 reviewed p.R10* 1.000 159 0% 163 42.3% 13 38.4% - - - NULL ZNF766 90321 genome.wustl.edu 37 19 52794321 52794321 + Missense_Mutation SNP T T G novel TCGA-D1-A165-01A-11D-A12J-09 TCGA-D1-A165-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a57139a-a826-42b8-bfb6-dbc5556ed389 5cd8a1ac-8281-4247-a3b4-4e813294910f NM_001010851.2 +1 validated p.L426R 0.022 226 0% 211 35.5% 8 62.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers LILRB1 10859 genome.wustl.edu 37 19 55143599 55143599 + Missense_Mutation SNP G G A novel TCGA-D1-A165-01A-11D-A12J-09 TCGA-D1-A165-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a57139a-a826-42b8-bfb6-dbc5556ed389 5cd8a1ac-8281-4247-a3b4-4e813294910f NM_001081637.1 +1 reviewed p.R191H 0.001 293 0% 345 10.7% 0 - benign(0.001) tolerated(1) - HMMPfam_ig,superfamily_SSF48726 TBL1X 6907 genome.wustl.edu 37 X 9683031 9683031 + Silent SNP G G A novel TCGA-D1-A165-01A-11D-A12J-09 TCGA-D1-A165-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a57139a-a826-42b8-bfb6-dbc5556ed389 5cd8a1ac-8281-4247-a3b4-4e813294910f NM_001139466.1 +1 reviewed p.A565 0.981 100 0% 108 13.9% 8 0% - - - HMMSmart_SM00320,superfamily_WD40 repeat-like FRMPD4 9758 genome.wustl.edu 37 X 12736731 12736731 + Silent SNP G G A novel TCGA-D1-A165-01A-11D-A12J-09 TCGA-D1-A165-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a57139a-a826-42b8-bfb6-dbc5556ed389 5cd8a1ac-8281-4247-a3b4-4e813294910f NM_014728.3 +1 reviewed p.E1262 0.995 50 0% 76 42.1% 0 - - - - NULL CLCN5 1184 genome.wustl.edu 37 X 49854898 49854898 + Missense_Mutation SNP C C T novel TCGA-D1-A165-01A-11D-A12J-09 TCGA-D1-A165-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a57139a-a826-42b8-bfb6-dbc5556ed389 5cd8a1ac-8281-4247-a3b4-4e813294910f NM_001127898.1 +1 reviewed p.R624W 0.670 174 0% 216 38.9% 2 0% probably_damaging(0.981) deleterious(0) deleterious(0.870) superfamily_Clc chloride channel PHKA1 5255 genome.wustl.edu 37 X 71840622 71840622 + Missense_Mutation SNP C C A novel TCGA-D1-A165-01A-11D-A12J-09 TCGA-D1-A165-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a57139a-a826-42b8-bfb6-dbc5556ed389 5cd8a1ac-8281-4247-a3b4-4e813294910f NM_002637.3 -1 reviewed p.C697F 1.000 147 0% 195 36.4% 5 100% benign(0) tolerated(0.71) neutral(0.002) HMMPfam_PHK_AB CHM 1121 genome.wustl.edu 37 X 85128070 85128070 + Missense_Mutation SNP T T C novel TCGA-D1-A165-01A-11D-A12J-09 TCGA-D1-A165-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a57139a-a826-42b8-bfb6-dbc5556ed389 5cd8a1ac-8281-4247-a3b4-4e813294910f NM_000390.2 -1 reviewed p.N586S 0.999 305 0% 293 39.2% 1 100% benign(0.001) tolerated(0.44) neutral(0.013) superfamily_SSF51905