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 SAMD11 148398 genome.wustl.edu 37 1 865624 865624 + Silent SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_152486.2 +1 validated p.S54 0.994 30 0% 22 22.7% 3 0% - - - NULL SDF4 51150 genome.wustl.edu 37 1 1158668 1158668 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_016176.3 -1 validated p.A178V 1.000 182 0% 139 35.3% 579 41.7% benign(0.001) tolerated(0.3) neutral(0.029) NULL ATAD3A 55210 genome.wustl.edu 37 1 1459249 1459249 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_018188.3 +1 validated p.A380T 1.000 72 0% 45 40% 56 19.6% benign(0.333) tolerated(0.26) neutral(0.139) superfamily_P-loop containing nucleoside triphosphate hydrolases LZIC 84328 genome.wustl.edu 37 1 9991952 9991952 + Missense_Mutation SNP G G T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_032368.3 -1 provisional p.L171I 1.000 121 0% 131 38.9% 20 40% benign(0.002) tolerated(0.59) neutral(0.004) HMMPfam_ICAT,superfamily_beta-catenin-interacting protein ICAT CROCC 9696 genome.wustl.edu 37 1 17296297 17296297 + Silent SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_014675.3 +1 validated p.A1773 0.994 14 0% 10 40% 35 40% - - - superfamily_Prefoldin HSPG2 3339 genome.wustl.edu 37 1 22183821 22183821 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af ENST00000374695 -1 known p.R1784H 0.928 58 0% 57 38.6% 42 16.6% benign(0.003) tolerated(0.17) neutral(0.059) HMMSmart_SM00408,HMMSmart_SM00409,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_V-set,superfamily_Immunoglobulin CELA3A 10136 genome.wustl.edu 37 1 22333459 22333459 + Missense_Mutation SNP C C A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_005747.4 +1 reviewed p.L151I 1.000 90 0% 74 23% 0 - probably_damaging(0.991) deleterious(0.01) deleterious(0.850) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases EPHB2 2048 genome.wustl.edu 37 1 23111224 23111224 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_004442.6 +1 reviewed p.V156I 0.990 24 0% 28 21.4% 1 0% benign(0) tolerated(0.66) neutral(0.003) HMMPfam_Ephrin_lbd,HMMSmart_EPH_lbd,superfamily_Gal_bind_like TCEB3 6924 genome.wustl.edu 37 1 24078896 24078896 + Splice_Site SNP G G T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_003198.2 +1 reviewed e5-1 1.000 175 0% 185 39.5% 1 100% - - - - ARID1A 8289 genome.wustl.edu 37 1 27106861 27106861 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_006015.4 +1 reviewed p.R2158* 1.000 50 0% 52 40.4% 48 39.5% - - - NULL PTPRU 10076 genome.wustl.edu 37 1 29587254 29587254 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_005704.3 +1 reviewed p.R328H 0.956 46 0% 44 29.5% 11 27.2% benign(0.004) tolerated(0.21) neutral(0.044) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III MACF1 23499 genome.wustl.edu 37 1 39797584 39797584 + Missense_Mutation SNP T T C novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_033044.2 +1 reviewed p.I215T 1.000 108 0% 98 34.7% 1 0% probably_damaging(0.959) - - HMMPfam_Plectin,HMMSmart_PLEC,superfamily_SSF75399 STIL 6491 genome.wustl.edu 37 1 47716838 47716838 + Silent SNP T T C novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001048166.1 -1 reviewed p.K1279 0.965 133 0% 146 34.2% 4 25% - - - NULL AGBL4 84871 genome.wustl.edu 37 1 49511293 49511294 + Frame_Shift_Del DEL AT AT - novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 AT AT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_032785.3 -1 validated p.M186fs 1.000:1.000 - - - - - - - - - HMMPfam_Peptidase_M14,HMMSmart_SM00631,superfamily_Zn-dependent exopeptidases LRP8 7804 genome.wustl.edu 37 1 53732279 53732279 + Missense_Mutation SNP C C A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_004631.3 -1 reviewed p.E431D 0.997 159 0% 126 28.6% 2 50% possibly_damaging(0.927) tolerated(0.85) neutral(0.376) superfamily_YWTD domain HOOK1 51361 genome.wustl.edu 37 1 60324706 60324706 + Silent SNP A A G novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af ENST00000371208 +1 known p.P460 0.957 62 0% 68 32.4% 1 100% - - - HMMPfam_HOOK LRRIQ3 127255 genome.wustl.edu 37 1 74648371 74648371 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001105659.1 -1 provisional p.H142Y 1.000 252 0% 223 32.3% 0 - probably_damaging(1) tolerated(0.12) deleterious(0.760) superfamily_Outer arm dynein light chain 1 GBP5 115362 genome.wustl.edu 37 1 89729594 89729594 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001134486.1 -1 validated p.R396Q 0.116 230 0% 221 34.8% 11 9% benign(0) tolerated(1) - HMMPfam_GBP_C,superfamily_Interferon-induced guanylate-binding protein 1 (GBP1) C-terminal domain TGFBR3 7049 genome.wustl.edu 37 1 92195521 92195521 + Missense_Mutation SNP A A G novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_003243.3 -1 validated p.F193S 1.000 297 0.3% 210 29% 3 0% probably_damaging(1) tolerated(0.84) deleterious(0.500) NULL TGFBR3 7049 genome.wustl.edu 37 1 92200363 92200363 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_003243.3 -1 validated p.A180T 1.000 266 0% 262 24.4% 2 0% benign(0.01) tolerated(0.25) neutral(0.037) NULL RPAP2 79871 genome.wustl.edu 37 1 92789201 92789201 + Silent SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af ENST00000370343 +1 known p.L242 0.979 254 0% 267 17.6% 1 0% - - - NULL SLC6A17 388662 genome.wustl.edu 37 1 110737278 110737278 + Silent SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001010898.2 +1 validated p.S459 0.006 96 0% 85 29.4% 0 - - - - HMMPfam_SNF CSDE1 7812 genome.wustl.edu 37 1 115268938 115268938 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001130523.1 -1 validated p.R527C 1.000 136 0% 161 32.3% 176 28.9% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SPAG17 200162 genome.wustl.edu 37 1 118642319 118642319 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_206996.2 -1 validated p.V247M 1.000 138 0% 155 33.5% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL SCNM1 79005 genome.wustl.edu 37 1 151140723 151140723 + Missense_Mutation SNP C C A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_024041.2 +1 validated p.P168T 0.021 90 0% 96 31.2% 73 30.1% benign(0.008) tolerated(0.12) neutral(0.261) NULL PI4KB 5298 genome.wustl.edu 37 1 151278829 151278829 + Missense_Mutation SNP A A G novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_002651.1 -1 provisional p.L410P 1.000 46 0% 62 33.9% 35 31.4% probably_damaging(0.974) deleterious(0) deleterious(0.861) NULL DENND4B 9909 genome.wustl.edu 37 1 153903168 153903168 + Missense_Mutation SNP C C A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_014856.2 -1 validated p.R1427M 1.000 55 0% 54 35.2% 6 16.6% probably_damaging(0.991) deleterious(0.01) deleterious(0.850) NULL HAX1 10456 genome.wustl.edu 37 1 154247442 154247442 + Missense_Mutation SNP C C A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_006118.3 +1 reviewed p.P174H 1.000 312 0% 344 36% 91 37.3% unknown(0) deleterious(0) - NULL HCN3 57657 genome.wustl.edu 37 1 155252279 155252281 + In_Frame_Del DEL AGG AGG - novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 AGG AGG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_020897.1 +1 validated p.E121in_frame_del 1.000:1.000:1.000 - - - - - - - - - HMMPfam_Ion_trans_N,superfamily_SSF81324 C1orf85 112770 genome.wustl.edu 37 1 156263368 156263368 + Splice_Site SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_144580.1 -1 provisional e5-1 0.996 90 0% 78 30.8% 1 100% - - - - INSRR 3645 genome.wustl.edu 37 1 156812016 156812016 + Missense_Mutation SNP C C A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_014215.1 -1 validated p.M1095I 1.000 130 0% 111 33.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like INSRR 3645 genome.wustl.edu 37 1 156821477 156821477 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_014215.1 -1 validated p.H349Y 0.999 81 0% 53 34% 0 - benign(0) tolerated(0.31) neutral(0.027) HMMPfam_Recep_L_domain,superfamily_SSF52058 MNDA 4332 genome.wustl.edu 37 1 158812182 158812182 + Missense_Mutation SNP A A G novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_002432.1 +1 reviewed p.N80S 0.000 123 0% 138 32.6% 1 0% benign(0.215) tolerated(0.17) neutral(0.080) HMMPfam_PAAD_DAPIN PIGM 93183 genome.wustl.edu 37 1 160000288 160000290 + In_Frame_Del DEL TTC TTC - novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 TTC TTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_145167.2 -1 reviewed p.E414in_frame_del 0.000:0.001:0.016 - - - - - - - - - NULL COPA 1314 genome.wustl.edu 37 1 160275358 160275358 + Missense_Mutation SNP A A T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001098398.1 -1 reviewed p.I520N 1.000 168 0% 169 25.4% 76 30.2% benign(0.355) deleterious(0) deleterious(0.557) HMMPfam_Coatomer_WDAD POU2F1 5451 genome.wustl.edu 37 1 167341274 167341274 + Splice_Site SNP G G C novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_002697.2 +1 provisional e4+1 1.000 75 0% 83 26.5% 0 - - - - - C1orf129 80133 genome.wustl.edu 37 1 170965693 170965693 + Silent SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af ENST00000426136 +1 known p.A68T 0.053 321 0% 333 15% 0 - - - - NULL ZNF648 127665 genome.wustl.edu 37 1 182026386 182026386 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001009992.1 -1 provisional p.R254W 0.007 15 0.000 9 0.444 0 - possibly_damaging(0.915) deleterious(0) deleterious(0.811) superfamily_SSF57667 FAM5C 339479 genome.wustl.edu 37 1 190067567 190067567 + Missense_Mutation SNP A A G novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_199051.1 -1 provisional p.Y628H 1.000 213 0% 216 33.3% 0 - probably_damaging(0.981) deleterious(0.03) deleterious(0.790) NULL ASPM 259266 genome.wustl.edu 37 1 197091601 197091601 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_018136.4 -1 reviewed p.T1172M 0.002 115 0% 112 30.4% 0 - benign(0.026) deleterious(0) neutral(0.446) HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain LRRN2 10446 genome.wustl.edu 37 1 204587410 204587410 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_006338.2 -1 reviewed p.A571T 0.002 76 1.3% 55 21.8% 12 16.6% benign(0.221) tolerated(0.34) neutral(0.045) NULL NFASC 23114 genome.wustl.edu 37 1 204921172 204921172 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af ENST00000367173 +1 known p.R18* 1.000 93 0% 99 33.3% 0 - benign(0) tolerated(1) - HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin EPRS 2058 genome.wustl.edu 37 1 220174573 220174573 + Silent SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_004446.2 -1 reviewed p.P696 0.071 432 0% 435 34.9% 33 36.3% - - - superfamily_Ribosomal_L25rel HLX 3142 genome.wustl.edu 37 1 221057831 221057831 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_021958.3 +1 validated p.A418T 0.000 45 0% 39 35.9% 4 25% benign(0.316) tolerated(0.11) neutral(0.371) NULL H3F3A 3020 genome.wustl.edu 37 1 226259064 226259064 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_002107.3 +1 reviewed p.A99T 1.000 233 0% 205 34.1% 246 39% benign(0.008) - - HMMSmart_SM00428,HMMPfam_Histone,superfamily_Histone-fold ARF1 375 genome.wustl.edu 37 1 228285050 228285050 + Silent SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001024226.1 +1 reviewed p.N52 0.702 56 0% 53 32.1% 700 34% - - - HMMSmart_SM00175,HMMSmart_SM00178,HMMSmart_SM00177,HMMPfam_Arf,superfamily_P-loop containing nucleoside triphosphate hydrolases TTC13 79573 genome.wustl.edu 37 1 231096971 231096971 + Missense_Mutation SNP T T C novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_024525.4 -1 validated p.N117S 1.000 155 0% 163 27.6% 6 33.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ARID4B 51742 genome.wustl.edu 37 1 235345935 235345935 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_016374.5 -1 reviewed p.A767T 0.000 276 0% 287 32.4% 1 0% benign(0) tolerated(1) - NULL LYST 1130 genome.wustl.edu 37 1 235827867 235827867 + Missense_Mutation SNP T T C novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_000081.2 -1 reviewed p.H3698R 1.000 94 0% 82 36.6% 4 75% probably_damaging(0.999) - - superfamily_WD40 repeat-like OR2G2 81470 genome.wustl.edu 37 1 247751698 247751698 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001001915.1 +1 provisional p.A13T 0.003 255 0% 271 40.2% 0 - benign(0) tolerated(0.68) neutral(0.002) superfamily_SSF81321 PXDN 7837 genome.wustl.edu 37 2 1643087 1643087 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_012293.1 -1 validated p.R1354W 0.000 226 0% 228 35.1% 33 0% benign(0.227) deleterious(0.01) neutral(0.428) NULL APOB 338 genome.wustl.edu 37 2 21237446 21237446 + Missense_Mutation SNP T T C novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_000384.2 -1 reviewed p.Q1239R 0.927 167 0% 159 30.2% 0 - probably_damaging(0.957) - - NULL KLHL29 114818 genome.wustl.edu 37 2 23916305 23916305 + Silent SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af ENST00000288548 +1 known p.T323M 1.000 23 0% 15 60% 11 45.4% - - - HMMPfam_BACK AGBL5 60509 genome.wustl.edu 37 2 27278549 27278549 + Splice_Site SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_021831.5 +1 validated e6-1 1.000 65 0% 48 31.2% 0 - - - - - KHK 3795 genome.wustl.edu 37 2 27320408 27320408 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_000221.2 +1 reviewed p.R152Q 1.000 38 0% 20 35% 4 0% benign(0.103) tolerated(0.25) neutral(0.045) superfamily_Ribokinase-like CAD 790 genome.wustl.edu 37 2 27449450 27449450 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_004341.3 +1 reviewed p.A697T 1.000 125 0% 137 25.5% 4 25% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_CPSase_L_D2,superfamily_SSF56059 PPM1G 5496 genome.wustl.edu 37 2 27606853 27606855 + In_Frame_Del DEL TCT TCT - novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 TCT TCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_177983.1 -1 reviewed p.E311in_frame_del 0.998:0.999:0.999 - - - - - - - - - HMMSmart_SM00332,superfamily_Protein serine/threonine phosphatase 2C catalytic domain,HMMPfam_PP2C ATL2 64225 genome.wustl.edu 37 2 38526436 38526436 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001135673.1 -1 validated p.A388T 1.000 54 0% 50 34% 12 8.3% benign(0.103) deleterious(0.02) neutral(0.391) superfamily_Interferon-induced guanylate-binding protein 1 (GBP1) C-terminal domain LOC388946 388946 genome.wustl.edu 37 2 46707653 46707653 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001145051.1 +1 validated p.C76Y 0.005 29 0% 26 57.7% 0 - benign(0.153) tolerated(0.12) neutral(0.274) NULL USP34 9736 genome.wustl.edu 37 2 61436070 61436072 + In_Frame_Del DEL AAG AAG - novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 AAG AAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_014709.3 -1 validated p.L2961in_frame_del 1.000:1.000:1.000 - - - - - - - - - NULL AAK1 22848 genome.wustl.edu 37 2 69741762 69741763 + In_Frame_Ins INS - - TGC rs77547121 TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_014911.3 -1 reviewed p.543in_frame_insQ 0.993:1.000 - - - - - - - - - NULL ALMS1 7840 genome.wustl.edu 37 2 73800037 73800037 + Missense_Mutation SNP G G T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_015120.4 +1 reviewed p.R3677L 0.129 55 0% 59 28.8% 3 100% probably_damaging(0.976) tolerated(0.18) deleterious(0.474) NULL ITPRIPL1 150771 genome.wustl.edu 37 2 96993611 96993611 + Silent SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af ENST00000420728 +1 known p.P446L 0.004 70 0% 55 27.3% 2 0% - - - NULL VWA3B 200403 genome.wustl.edu 37 2 98872589 98872589 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_144992.4 +1 provisional p.R932H 1.000 113 0% 181 43.1% 0 - benign(0.017) deleterious(0.02) neutral(0.384) NULL INPP4A 3631 genome.wustl.edu 37 2 99149902 99149902 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001134224.1 +1 reviewed p.V72I 0.999 95 0% 86 37.2% 2 50% benign(0.408) tolerated(0.05) deleterious(0.477) superfamily_C2 domain (Calcium/lipid-binding domain CaLB) CREG2 200407 genome.wustl.edu 37 2 102000085 102000085 + Missense_Mutation SNP T T C novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_153836.3 -1 validated p.Y174C 1.000 136 0% 117 30.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_FMN_binding MAP4K4 9448 genome.wustl.edu 37 2 102460762 102460763 + Frame_Shift_Ins INS - - GGCTAGAA novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_145686.2 +1 reviewed p.E411fs 1.000:1.000 - - - - - - - - - NULL TFCP2L1 29842 genome.wustl.edu 37 2 121989414 121989414 + Silent SNP C C A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_014553.2 -1 validated p.V443 1.000 56 0% 39 38.5% 17 47% - - - NULL BIN1 274 genome.wustl.edu 37 2 127864439 127864441 + In_Frame_Del DEL CTC CTC - novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_139343.1 -1 reviewed p.E27in_frame_del 1.000:1.000:1.000 - - - - - - - - - HMMPfam_BAR,HMMSmart_SM00721 CCNT2 905 genome.wustl.edu 37 2 135712129 135712129 + Missense_Mutation SNP G G A rs190052933 by1000genomes TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_058241.1 +1 reviewed p.E702K 1.000 166 0% 131 26.7% 13 53.8% benign(0.052) deleterious(0.01) neutral(0.409) NULL LRP1B 53353 genome.wustl.edu 37 2 141294224 141294224 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_018557.2 -1 validated p.C2523Y 1.000 141 0% 176 23.9% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Ldl_recept_a,HMMSmart_LDLa,PatternScan_LDLRA_1,superfamily_LDL_rcpt_classA_cys-rich,superfamily_SSF63825 NEB 4703 genome.wustl.edu 37 2 152500342 152500342 + Missense_Mutation SNP A A G novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_004543.4 -1 reviewed p.L2649P 1.000 181 0% 157 38.2% 0 - probably_damaging(0.995) deleterious(0.03) deleterious(0.822) HMMPfam_Nebulin,HMMSmart_SM00227 ACVR1 90 genome.wustl.edu 37 2 158637067 158637068 + Frame_Shift_Ins INS - - CA novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001105.4 -1 reviewed p.E38fs 1.000:1.000 - - - - - - - - - HMMPfam_Activin_recp,superfamily_SSF57302 TBR1 10716 genome.wustl.edu 37 2 162274270 162274270 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_006593.2 +1 reviewed p.A259V 1.000 257 0.4% 261 35.2% 0 - probably_damaging(0.972) tolerated(0.11) deleterious(0.685) HMMPfam_T-box,HMMSmart_TBOX,superfamily_P53_like_DNA_bnd DNAH7 56171 genome.wustl.edu 37 2 196729215 196729215 + Silent SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_018897.2 -1 validated p.A2388 0.000 187 0% 199 34.7% 0 - - - - superfamily_P-loop containing nucleoside triphosphate hydrolases ANKRD44 91526 genome.wustl.edu 37 2 197943382 197943383 + Frame_Shift_Ins INS - - TG novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af ENST00000409153 -1 known p.T566fs 0.000:0.001 - - - - - - - - - superfamily_ANK UNC80 285175 genome.wustl.edu 37 2 210824231 210824231 + Silent SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_032504.1 +1 validated p.L2469 1.000 107 0% 85 36.5% 0 - - - - NULL IKZF2 22807 genome.wustl.edu 37 2 213921726 213921726 + Silent SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_016260.2 -1 reviewed p.S79 1.000 221 0% 200 31.5% 0 - - - - NULL SPAG16 79582 genome.wustl.edu 37 2 214181966 214181966 + Missense_Mutation SNP T T C novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_024532.3 +1 validated p.V141A 0.000 221 0% 259 29.3% 22 45.4% benign(0.021) tolerated(0.75) neutral(0.003) superfamily_WD40 repeat-like USP37 57695 genome.wustl.edu 37 2 219344432 219344432 + Silent SNP T T C novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_020935.2 -1 validated p.R614 1.000 112 0% 122 32.8% 2 0% - - - HMMPfam_UCH,superfamily_Cysteine proteinases CDK5R2 8941 genome.wustl.edu 37 2 219825499 219825499 + Silent SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_003936.3 +1 reviewed p.T319 0.990 11 0% 18 44.4% 0 - - - - HMMPfam_CDK5_activator,superfamily_Cyclin_like STK11IP 114790 genome.wustl.edu 37 2 220479853 220479853 + Silent SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af ENST00000447191 +1 known p.R69H 0.638 85 0% 61 37.7% 26 30.7% - - - NULL NYAP2 57624 genome.wustl.edu 37 2 226491779 226491779 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_020864.1 +1 validated p.V589I 1.000 81 0% 70 41.4% 0 - unknown(0) - - NULL NCL 4691 genome.wustl.edu 37 2 232326373 232326378 + In_Frame_Del DEL TCCTCG TCCTCG - novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 TCCTCG TCCTCG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_005381.2 -1 reviewed p.DE166in_frame_del 0.338:0.356:0.047:0.596:0.704:0.401 - - - - - - - - - HMMPfam_FYDLN_acid ATG16L1 55054 genome.wustl.edu 37 2 234191376 234191376 + Missense_Mutation SNP A A G novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_030803.6 +1 validated p.T394A 1.000 283 0% 297 34.7% 18 33.3% unknown(0) deleterious(0.01) - HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 HDAC4 9759 genome.wustl.edu 37 2 240085607 240085607 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_006037.3 -1 reviewed p.S168N 1.000 148 0% 173 39.3% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL KIF1A 547 genome.wustl.edu 37 2 241737138 241737138 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_004321.4 -1 reviewed p.R11Q 1.000 28 0% 18 33.3% 5 40% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases TADA3 10474 genome.wustl.edu 37 3 9831401 9831401 + Missense_Mutation SNP T T C novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_006354.2 -1 reviewed p.N152D 1.000 172 0% 130 40% 76 34.2% possibly_damaging(0.731) deleterious(0.03) deleterious(0.631) NULL TATDN2 9797 genome.wustl.edu 37 3 10312102 10312102 + Silent SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_014760.3 +1 validated p.S412 0.005 62 0% 55 29.1% 14 7.1% - - - NULL ATP2B2 491 genome.wustl.edu 37 3 10370590 10370590 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001001331.2 -1 reviewed p.D1214N 1.000 184 0% 168 34.5% 15 40% benign(0.408) deleterious(0.01) deleterious(0.538) NULL RFTN1 23180 genome.wustl.edu 37 3 16475419 16475419 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_015150.1 -1 validated p.E91K 0.003 52 0% 44 38.6% 9 0% possibly_damaging(0.527) tolerated(0.91) neutral(0.178) NULL LYZL4 131375 genome.wustl.edu 37 3 42448470 42448470 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_144634.2 -1 provisional p.E54K 0.996 100 0% 95 40% 0 - probably_damaging(0.953) deleterious(0) deleterious(0.841) HMMPfam_Lys,HMMSmart_LYZ1,superfamily_SSF53955 ZBTB47 92999 genome.wustl.edu 37 3 42701216 42701216 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_145166.3 +1 validated p.V81M 1.000 46 0% 47 46.8% 11 36.3% possibly_damaging(0.952) deleterious(0.01) deleterious(0.801) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2 ENSG00000250823 0 genome.wustl.edu 37 3 47456815 47456815 + RNA SNP T T G novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af ENST00000504649 +1 known NULL 0.000 18 0% 13 38.5% 1 100% - - - - SCAP 22937 genome.wustl.edu 37 3 47467577 47467577 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_012235.2 -1 reviewed p.V274M 1.000 125 0% 111 31.5% 53 35.8% possibly_damaging(0.742) tolerated(0.16) neutral(0.332) NULL CCDC51 79714 genome.wustl.edu 37 3 48476429 48476429 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_024661.3 -1 validated p.C37Y 1.000 37 0% 21 23.8% 6 33.3% benign(0.004) deleterious(0) neutral(0.445) NULL DOCK3 1795 genome.wustl.edu 37 3 51392335 51392335 + Missense_Mutation SNP G G T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_004947.3 +1 validated p.G1377V 1.000 85 0% 57 31.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL VPRBP 9730 genome.wustl.edu 37 3 51456130 51456130 + Splice_Site SNP A A G novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_014703.2 -1 validated e13+2 1.000 152 0% 109 35.8% 0 - - - - - DNAH1 25981 genome.wustl.edu 37 3 52384031 52384031 + Silent SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_015512.4 +1 validated p.S851 1.000 33 0% 33 33.3% 0 - - - - NULL NT5DC2 64943 genome.wustl.edu 37 3 52558748 52558748 + Splice_Site SNP C C A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001134231.1 -1 validated e14-1 1.000 45 0% 37 35.1% 3 66.6% - - - - ACOX2 8309 genome.wustl.edu 37 3 58502957 58502957 + Missense_Mutation SNP T T C novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_003500.3 -1 reviewed p.Y609C 1.000 59 0% 73 28.8% 12 33.3% probably_damaging(0.98) deleterious(0.01) deleterious(0.830) HMMPfam_ACOX,superfamily_AcylCoADH_C_like CNTN3 5067 genome.wustl.edu 37 3 74418454 74418454 + Missense_Mutation SNP A A T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_020872.1 -1 validated p.F278I 0.993 94 0% 72 26.4% 0 - benign(0.064) deleterious(0.01) neutral(0.410) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin OR5H14 403273 genome.wustl.edu 37 3 97868576 97868576 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001005514.1 +1 provisional p.A116V 0.061 202 0% 187 24.6% 0 - benign(0.006) tolerated(0.14) neutral(0.249) HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like PLCXD2 257068 genome.wustl.edu 37 3 111426960 111426960 + Silent SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_153268.3 +1 validated p.V117 1.000 117 0% 114 28.1% 0 - - - - superfamily_PLC-like_Pdiesterase_TIM-brl PLXNA1 5361 genome.wustl.edu 37 3 126723487 126723487 + Missense_Mutation SNP T T C novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_032242.3 +1 validated p.Y495H 1.000 37 0% 33 39.4% 4 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PSI,HMMSmart_SM00423,superfamily_Plexin repeat PLXNA1 5361 genome.wustl.edu 37 3 126739095 126739095 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_032242.3 +1 validated p.G1293S 1.000 75 0% 56 41.1% 13 15.3% benign(0.372) tolerated(1) neutral(0.118) NULL TMCC1 23023 genome.wustl.edu 37 3 129546680 129546682 + In_Frame_Del DEL GCA GCA - novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 GCA GCA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001017395.3 -1 validated p.A181in_frame_del 0.780:0.875:0.911 - - - - - - - - - NULL EPHB1 2047 genome.wustl.edu 37 3 134880956 134880956 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_004441.4 +1 reviewed p.R507C 1.000 90 0% 53 22.6% 0 - benign(0.011) deleterious(0) neutral(0.445) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III TRIM42 287015 genome.wustl.edu 37 3 140407176 140407177 + Frame_Shift_Ins INS - - G novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_152616.3 +1 reviewed p.L553fs 0.000:0.003 - - - - - - - - - NULL TMEM183B 653659 genome.wustl.edu 37 3 149700002 149700005 + Frame_Shift_Del DEL CAGT CAGT - novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 CAGT CAGT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001079809.1 -1 validated p.D364fs 1.000:1.000:0.998:1.000 - - - - - - - - - NULL GMPS 8833 genome.wustl.edu 37 3 155628494 155628494 + Missense_Mutation SNP A A T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_003875.2 +1 reviewed p.E180D 1.000 81 0% 91 33% 13 69.2% benign(0.004) tolerated(0.24) neutral(0.037) HMMPfam_GATase,superfamily_Class I glutamine amidotransferase-like SI 6476 genome.wustl.edu 37 3 164714344 164714345 + Frame_Shift_Ins INS - - T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001041.3 -1 reviewed p.N1557fs 1.000:1.000 - - - - - - - - - HMMPfam_Glyco_hydro_31,PatternScan_GLYCOSYL_HYDROL_F31_2,superfamily_(Trans)glycosidases PHC3 80012 genome.wustl.edu 37 3 169831226 169831226 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_024947.3 -1 validated p.V759I 1.000 321 0% 307 26.1% 4 25% possibly_damaging(0.556) tolerated(0.46) neutral(0.202) NULL CLDN11 5010 genome.wustl.edu 37 3 170140955 170140955 + Silent SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_005602.5 +1 reviewed p.Y77 0.713 114 0% 80 36.2% 2 0% - - - HMMPfam_PMP22_Claudin NAALADL2 254827 genome.wustl.edu 37 3 175184906 175184906 + Silent SNP A A C novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_207015.2 +1 validated p.R489 0.878 154 0% 150 36.7% 5 40% - - - superfamily_Zn-dependent exopeptidases PIK3CA 5290 genome.wustl.edu 37 3 178927980 178927980 + Missense_Mutation SNP T T C rs121913272 TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_006218.2 +1 reviewed p.C420R 1.000 119 0% 120 33.3% 2 50% probably_damaging(0.992) tolerated(0.24) deleterious(0.485) HMMSmart_C2,HMMPfam_PI3K_C2,HMMSmart_PI3K_C2,superfamily_C2_CaLB HTR3C 170572 genome.wustl.edu 37 3 183773121 183773121 + Missense_Mutation SNP A A G novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_130770.2 +1 reviewed p.T86A 1.000 123 0% 176 34.7% 0 - possibly_damaging(0.758) tolerated(0.06) deleterious(0.603) HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD CRYGS 1427 genome.wustl.edu 37 3 186256610 186256610 + Missense_Mutation SNP T T A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_017541.2 -1 reviewed p.I138F 0.854 94 0% 95 25.3% 1 0% possibly_damaging(0.83) deleterious(0) deleterious(0.760) HMMPfam_Crystall,HMMSmart_SM00247,superfamily_gamma-Crystallin-like ATP13A4 84239 genome.wustl.edu 37 3 193175186 193175186 + Silent SNP G G T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af ENST00000428352 -1 known p.P221H 0.291 247 0% 296 35.8% 0 - - - - superfamily_Metal cation-transporting ATPase ATP-binding domain N MUC4 4585 genome.wustl.edu 37 3 195490324 195490324 + Missense_Mutation SNP T T G novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_018406.5 -1 reviewed p.S4617R 0.650 15 0% 21 57.1% 16 43.7% benign(0.418) - - HMMPfam_VWD,HMMSmart_SM00216 LRCH3 84859 genome.wustl.edu 37 3 197562678 197562678 + Silent SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_032773.2 +1 provisional p.R412 1.000 180 0% 177 25.4% 6 50% - - - superfamily_SSF52058 MSX1 4487 genome.wustl.edu 37 4 4864611 4864611 + Missense_Mutation SNP T T A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_002448.3 +1 reviewed p.I218K 1.000 9 0.000 12 0.583 824 47.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like,PatternScan_HOMEOBOX_1 SORCS2 57537 genome.wustl.edu 37 4 7731322 7731322 + Silent SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af ENST00000507866 +1 known p.R964C 0.406 56 0% 47 31.9% 1 0% - - - NULL ACOX3 8310 genome.wustl.edu 37 4 8372643 8372643 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_003501.2 -1 validated p.D659N 0.963 69 0% 48 31.2% 13 7.6% possibly_damaging(0.865) tolerated(0.11) deleterious(0.607) HMMPfam_ACOX,superfamily_Acyl-CoA dehydrogenase C-terminal domain-like LOC643446 643446 genome.wustl.edu 37 4 11373992 11373992 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af XM_001130637.2 +1 model p.D132N 0.996 178 0% 148 39.2% 68 0% - - - NULL NCAPG 64151 genome.wustl.edu 37 4 17816537 17816537 + Silent SNP T T C novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_022346.3 +1 validated p.C202 1.000 200 0% 172 34.3% 6 50% - - - superfamily_ARM-type_fold TLR1 7096 genome.wustl.edu 37 4 38800095 38800095 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_003263.3 -1 reviewed p.D120N 1.000 159 0% 167 30.5% 2 0% probably_damaging(0.998) tolerated(0.16) deleterious(0.534) HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like ATP10D 57205 genome.wustl.edu 37 4 47560949 47560949 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_020453.3 +1 validated p.S815N 0.000 161 0% 155 32.9% 4 0% benign(0) tolerated(1) - superfamily_HAD-like,superfamily_Metal cation-transporting ATPase ATP-binding domain N PPAT 5471 genome.wustl.edu 37 4 57272685 57272685 + Silent SNP T T C novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_002703.3 -1 reviewed p.V126 0.081 163 0% 202 34.7% 2 50% - - - HMMPfam_GATase_2,superfamily_N-terminal nucleophile aminohydrolases (Ntn hydrolases) EPHA5 2044 genome.wustl.edu 37 4 66197750 66197750 + Silent SNP T T C novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_004439.5 -1 reviewed p.T983 1.000 154 0% 169 30.2% 0 - - - - HMMPfam_SAM_1,HMMSmart_SM00454,superfamily_SAM/Pointed domain UBA6 55236 genome.wustl.edu 37 4 68527865 68527865 + Silent SNP T T C novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af ENST00000420827 -1 known p.L382 0.002 199 0% 250 31.6% 1 0% - - - NULL SLC4A4 8671 genome.wustl.edu 37 4 72316141 72316141 + Silent SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001134742.1 +1 reviewed p.R363 1.000 136 0% 117 31.6% 0 - - - - HMMPfam_Band_3_cyto,superfamily_PTrfase/Anion_transptr ANKRD17 26057 genome.wustl.edu 37 4 74017202 74017202 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_032217.3 -1 reviewed p.A425V 1.000 169 0% 198 34.3% 8 75% probably_damaging(0.995) deleterious(0.02) deleterious(0.841) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat G3BP2 9908 genome.wustl.edu 37 4 76571611 76571611 + Missense_Mutation SNP T T C novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_012297.4 -1 validated p.N363D 1.000 172 0% 162 32.1% 18 33.3% probably_damaging(0.969) tolerated(0.13) deleterious(0.664) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD MMRN1 22915 genome.wustl.edu 37 4 90857546 90857546 + Silent SNP G G A rs142031218 by1000genomes TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_007351.2 +1 reviewed p.A905 0.997 195 0% 181 27.6% 3 0% - - - NULL AIMP1 9255 genome.wustl.edu 37 4 107248612 107248612 + Silent SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001142416.1 +1 reviewed p.L62 0.997 115 0% 108 36.1% 22 40.9% - - - NULL EGF 1950 genome.wustl.edu 37 4 110897223 110897223 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001963.4 +1 reviewed p.Q629* 1.000 187 0% 185 29.2% 0 - - - - HMMPfam_Ldl_recept_b,HMMSmart_LY,superfamily_SSF63825 PCDH10 57575 genome.wustl.edu 37 4 134073456 134073456 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_032961.1 +1 reviewed p.A721T 1.000 89 0% 47 42.6% 0 - probably_damaging(0.998) tolerated(0.38) deleterious(0.492) NULL MAB21L2 10586 genome.wustl.edu 37 4 151504557 151504557 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_006439.4 +1 reviewed p.R126C 1.000 56 0% 59 39% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Mab-21 MSMO1 6307 genome.wustl.edu 37 4 166263020 166263020 + Missense_Mutation SNP G G T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_006745.3 +1 reviewed p.W268C 1.000 230 0% 194 33.5% 28 32.1% possibly_damaging(0.568) deleterious(0.04) deleterious(0.543) NULL DNAH5 1767 genome.wustl.edu 37 5 13753557 13753557 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001369.2 -1 reviewed p.R3553W 0.968 160 0% 186 34.4% 0 - probably_damaging(0.993) deleterious(0) deleterious(0.895) NULL RICTOR 253260 genome.wustl.edu 37 5 38991160 38991160 + Silent SNP A A G novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_152756.3 -1 validated p.A158 1.000 155 0% 139 24.5% 1 0% - - - superfamily_ARM repeat CARD6 84674 genome.wustl.edu 37 5 40853754 40853754 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_032587.3 +1 reviewed p.A774T 0.002 46 0% 50 32% 4 25% benign(0) tolerated(1) - NULL PPWD1 23398 genome.wustl.edu 37 5 64872779 64872779 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_015342.2 +1 validated p.R348H 1.000 302 0% 278 37.8% 10 30% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_WD40_like HMGCR 3156 genome.wustl.edu 37 5 74651274 74651274 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_000859.2 +1 reviewed p.A603T 1.000 210 0% 200 38% 73 41% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_HMG-CoA_red,superfamily_NAD-binding domain of HMG-CoA reductase,superfamily_Substrate-binding domain of HMG-CoA reductase WDR41 55255 genome.wustl.edu 37 5 76729020 76729020 + Silent SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_018268.2 -1 validated p.L440 0.926 180 0% 168 31.5% 21 33.3% - - - NULL JMY 133746 genome.wustl.edu 37 5 78596069 78596069 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_152405.4 +1 validated p.Q541* 1.000 157 0% 171 33.3% 2 0% - - - NULL WDR36 134430 genome.wustl.edu 37 5 110443088 110443088 + Missense_Mutation SNP G G T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_139281.2 +1 reviewed p.A482S 0.012 149 0% 157 34.4% 4 50% benign(0.01) tolerated(0.1) neutral(0.287) superfamily_WD40_like ATG12 9140 genome.wustl.edu 37 5 115167544 115167544 + Missense_Mutation SNP C C A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_004707.3 -1 validated p.G174V 1.000 143 0% 162 29% 24 25% probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMPfam_APG12,superfamily_SSF54236 COMMD10 51397 genome.wustl.edu 37 5 115469829 115469831 + In_Frame_Del DEL CTC CTC - novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_016144.2 +1 provisional p.P156in_frame_del 1.000:1.000:1.000 - - - - - - - - - HMMPfam_HCaRG LMNB1 4001 genome.wustl.edu 37 5 126145880 126145880 + Silent SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_005573.2 +1 reviewed p.N217 0.877 129 0% 102 38.2% 27 33.3% - - - HMMPfam_Filament MEGF10 84466 genome.wustl.edu 37 5 126770452 126770452 + Silent SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_032446.2 +1 validated p.C638 0.999 60 0% 33 30.3% 0 - - - - HMMSmart_SM00180,HMMSmart_SM00181 CDC23 8697 genome.wustl.edu 37 5 137542342 137542342 + Missense_Mutation SNP A A G novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_004661.3 -1 reviewed p.L89P 1.000 105 0% 88 25% 10 20% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_APC8,superfamily_TPR-like ANKHD1-EIF4EBP3 404734 genome.wustl.edu 37 5 139828863 139828863 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_020690.4 +1 reviewed p.M405I 1.000 143 0% 139 37.4% 16 62.5% possibly_damaging(0.899) tolerated(0.4) neutral(0.372) HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK ANKHD1-EIF4EBP3 404734 genome.wustl.edu 37 5 139908475 139908475 + Missense_Mutation SNP A A G novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_020690.4 +1 reviewed p.T1982A 1.000 66 0% 75 36% 30 30% probably_damaging(0.974) deleterious(0.01) deleterious(0.822) NULL PCDHA1 56147 genome.wustl.edu 37 5 140167250 140167250 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_018900.2 +1 reviewed p.E459K 1.000 60 0% 45 37.8% 0 - benign(0.141) tolerated(0.64) neutral(0.015) superfamily_Cadherin-like PCDHA3 56145 genome.wustl.edu 37 5 140182372 140182372 + Silent SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_018906.2 +1 reviewed p.L530 0.998 33 0% 29 20.7% 8 100% - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHA3 56145 genome.wustl.edu 37 5 140182540 140182540 + Silent SNP T T C novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_018906.2 +1 reviewed p.G586 0.013 65 0% 47 29.8% 9 0% - - - HMMPfam_Cadherin,superfamily_Cadherin-like PCDHA5 56143 genome.wustl.edu 37 5 140202443 140202443 + Silent SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_018908.2 +1 reviewed p.D361 0.933 43 0% 49 34.7% 2 0% - - - HMMPfam_Cadherin,superfamily_Cadherin-like PCDHA8 56140 genome.wustl.edu 37 5 140222596 140222596 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_018911.2 +1 reviewed p.A564T 0.000 28 0% 18 66.7% 0 - benign(0) tolerated(0.6) neutral(0.004) superfamily_Cadherin-like PCDHA12 56137 genome.wustl.edu 37 5 140256363 140256363 + Missense_Mutation SNP T T C novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_018903.2 +1 reviewed p.W436R 0.023 82 0% 64 37.5% 0 - benign(0.001) tolerated(0.31) neutral(0.027) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHA12 56137 genome.wustl.edu 37 5 140256805 140256805 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_018903.2 +1 reviewed p.R583Q 0.000 169 0.6% 132 28% 0 - benign(0.229) deleterious(0.01) neutral(0.429) superfamily_Cadherin-like PCDHB18 54660 genome.wustl.edu 37 5 140616222 140616222 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af ENST00000274705 +1 known p.S646L 0.996 47 0% 34 35.3% 1 0% - - - NULL PCDHGB4 8641 genome.wustl.edu 37 5 140767954 140767954 + Missense_Mutation SNP A A G novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_003736.2 +1 reviewed p.Q168R 0.240 114 0% 118 28.8% 0 - benign(0.024) tolerated(0.12) neutral(0.262) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGB4 8641 genome.wustl.edu 37 5 140769021 140769021 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_003736.2 +1 reviewed p.R524C 1.000 11 0% 17 41.2% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGC5 56097 genome.wustl.edu 37 5 140869550 140869550 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_018929.2 +1 reviewed p.R248H 0.992 118 0% 99 43.4% 0 - probably_damaging(0.98) deleterious(0.02) deleterious(0.807) HMMPfam_Cadherin,superfamily_Cadherin-like PDGFRB 5159 genome.wustl.edu 37 5 149498395 149498395 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_002609.3 -1 reviewed p.C940Y 1.000 107 0% 84 31% 66 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like ZNF300 91975 genome.wustl.edu 37 5 150275564 150275564 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_052860.2 -1 reviewed p.E413K 0.871 65 1.5% 89 40.4% 1 0% probably_damaging(0.995) deleterious(0.05) deleterious(0.803) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers FAT2 2196 genome.wustl.edu 37 5 150914107 150914107 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001447.2 -1 reviewed p.A3097V 1.000 52 0% 38 34.2% 3 33.3% probably_damaging(0.953) deleterious(0.01) deleterious(0.802) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like CYFIP2 26999 genome.wustl.edu 37 5 156810281 156810281 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001037332.2 +1 validated p.R1041C 1.000 48 0% 33 27.3% 15 26.6% probably_damaging(0.988) deleterious(0.03) deleterious(0.802) HMMPfam_FragX_IP NIPAL4 348938 genome.wustl.edu 37 5 156894071 156894071 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001099287.1 +1 reviewed p.G160S 1.000 584 0% 500 32.8% 0 - benign(0.308) tolerated(0.55) neutral(0.103) HMMPfam_DUF803 ADAM19 8728 genome.wustl.edu 37 5 156936442 156936442 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_033274.2 -1 reviewed p.V258M 0.998 97 0% 88 36.4% 1 0% possibly_damaging(0.902) - - "HMMPfam_Reprolysin,superfamily_Metalloproteases (""zincins"") catalytic domain" SOX30 11063 genome.wustl.edu 37 5 157078636 157078636 + Missense_Mutation SNP C C A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_178424.1 -1 reviewed p.G151W 0.014 6 0.000 9 0.556 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL ATP10B 23120 genome.wustl.edu 37 5 160047756 160047756 + Missense_Mutation SNP C C A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_025153.2 -1 validated p.G672C 0.006 39 0% 28 25% 3 33.3% possibly_damaging(0.952) tolerated(0.06) deleterious(0.718) superfamily_HAD-like CPEB4 80315 genome.wustl.edu 37 5 173372136 173372136 + Silent SNP T T C novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_030627.2 +1 validated p.I483 0.862 141 0% 121 27.3% 4 25% - - - HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD THOC3 84321 genome.wustl.edu 37 5 175387053 175387053 + Silent SNP G G T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_032361.2 -1 validated p.A325 1.000 87 0% 87 16.1% 93 22.5% - - - HMMSmart_WD40,superfamily_WD40_like PDLIM7 9260 genome.wustl.edu 37 5 176917869 176917869 + Splice_Site SNP A A G novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_005451.3 -1 reviewed e6+2 1.000 54 0% 60 36.7% 12 91.6% - - - - TBC1D9B 23061 genome.wustl.edu 37 5 179294547 179294547 + Missense_Mutation SNP G G T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af ENST00000444477 -1 known p.L208I 0.027 130 0% 98 32.7% 1 100% - - - NULL EEF1E1 9521 genome.wustl.edu 37 6 8097660 8097660 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_004280.4 -1 reviewed p.G43E 1.000 212 0% 225 23.6% 22 31.8% probably_damaging(0.98) deleterious(0) deleterious(0.869) NULL ENSG00000207394 0 genome.wustl.edu 37 6 23125229 23125229 + RNA SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af ENST00000384664 -1 novel NULL 0.062 67 1.5% 46 26.1% 0 - - - - - FAM65B 9750 genome.wustl.edu 37 6 24847838 24847838 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_014722.2 -1 validated p.H387Y 1.000 41 0% 45 48.9% 0 - benign(0) tolerated(0.31) neutral(0.027) NULL LRRC16A 55604 genome.wustl.edu 37 6 25538189 25538189 + Missense_Mutation SNP G G A rs74654931 TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_017640.5 +1 validated p.R725H 1.000 130 0% 135 34.1% 15 46.6% benign(0.003) tolerated(0.15) neutral(0.241) NULL HIST1H2AK 8330 genome.wustl.edu 37 6 27805887 27805887 + Silent SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_003510.2 -1 reviewed p.T77 0.626 154 0.6% 123 35.8% 2 50% - - - HMMSmart_SM00414,HMMPfam_Histone,superfamily_Histone-fold ZNF192 7745 genome.wustl.edu 37 6 28116403 28116403 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_006298.2 +1 validated p.R73Q 0.959 83 0% 66 40.9% 0 - possibly_damaging(0.928) tolerated(0.1) deleterious(0.662) HMMPfam_SCAN,HMMSmart_SM00431 ZNF187 7741 genome.wustl.edu 37 6 28239714 28239714 + Splice_Site SNP T T C novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_152736.4 +1 validated e1+2 0.000 89 0% 70 27.1% 2 50% - - - - ATF6B 1388 genome.wustl.edu 37 6 32085784 32085785 + Frame_Shift_Del DEL GA GA - novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 GA GA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_004381.4 -1 reviewed p.P426fs 0.422:0.419 - - - - - - - - - NULL HLA-DOB 3112 genome.wustl.edu 37 6 32783047 32783047 + Silent SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af ENST00000447394 -1 known p.R32W 0.983 107 0% 112 26.8% 4 50% - - - HMMPfam_MHC_II_beta,superfamily_MHC antigen-recognition domain APOBEC2 10930 genome.wustl.edu 37 6 41029282 41029282 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_006789.3 +1 validated p.R116Q 0.004 67 0% 50 30% 0 - benign(0.023) tolerated(0.58) neutral(0.006) HMMPfam_APOBEC_N,superfamily_Cytidine deaminase-like UBR2 23304 genome.wustl.edu 37 6 42646299 42646299 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_015255.2 +1 reviewed p.G1501S 1.000 309 0% 330 21.5% 14 35.7% benign(0.004) tolerated(0.11) neutral(0.272) NULL TDRD6 221400 genome.wustl.edu 37 6 46661297 46661297 + Missense_Mutation SNP A A G novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001010870.2 +1 validated p.Y1811C 0.000 63 0% 58 34.5% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL IL17F 112744 genome.wustl.edu 37 6 52101947 52101947 + Missense_Mutation SNP G G A rs142962486 by1000genomes TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_052872.3 -1 reviewed p.R92W 0.997 115 0% 68 33.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_IL17,superfamily_Cystine-knot cytokines BAI3 577 genome.wustl.edu 37 6 70048880 70048880 + Silent SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001704.2 +1 reviewed p.L1087 1.000 121 0% 101 21.8% 0 - - - - HMMPfam_7tm_2 COL19A1 1310 genome.wustl.edu 37 6 70859631 70859631 + Missense_Mutation SNP G G T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001858.4 +1 reviewed p.Q643H 1.000 254 0% 309 32.7% 0 - probably_damaging(0.965) tolerated(0.1) deleterious(0.694) HMMPfam_Collagen COL9A1 1297 genome.wustl.edu 37 6 70990530 70990530 + Silent SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001851.4 -1 reviewed p.G320 0.803 18 0% 14 50% 0 - - - - HMMPfam_Collagen SIM1 6492 genome.wustl.edu 37 6 100896393 100896393 + Silent SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_005068.2 -1 reviewed p.R235 0.977 34 0% 26 38.5% 0 - - - - HMMSmart_PAS,superfamily_SSF55785 AKD1 221264 genome.wustl.edu 37 6 109854641 109854641 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af ENST00000424296 -1 known p.R207Q 0.525 149 0% 152 30.9% 0 - probably_damaging(0.992) tolerated(0.55) neutral(0.455) HMMPfam_ADK,superfamily_SSF52540 LAMA4 3910 genome.wustl.edu 37 6 112466051 112466051 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001105206.1 -1 reviewed p.A813V 1.000 57 0% 81 39.5% 18 0% benign(0.273) tolerated(0.19) neutral(0.079) HMMPfam_Laminin_II FRK 2444 genome.wustl.edu 37 6 116277731 116277731 + Missense_Mutation SNP A A G novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_002031.2 -1 reviewed p.M281T 1.000 284 0% 251 23.1% 5 40% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like TSPYL4 23270 genome.wustl.edu 37 6 116574136 116574136 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_021648.4 -1 validated p.R346W 1.000 215 0% 162 30.9% 9 11.1% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_NAP CEP85L 387119 genome.wustl.edu 37 6 118791792 118791792 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001042475.2 -1 validated p.L644F 0.997 183 0% 191 36.1% 0 - probably_damaging(0.99) deleterious(0.03) deleterious(0.806) NULL TAAR9 134860 genome.wustl.edu 37 6 132859716 132859716 + Silent SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_175057.3 +1 reviewed p.S96 0.992 375 0% 368 34.2% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like AKAP12 9590 genome.wustl.edu 37 6 151672944 151672945 + Frame_Shift_Ins INS - - A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_005100.3 +1 reviewed p.A1141fs 0.001:0.000 - - - - - - - - - NULL RMND1 55005 genome.wustl.edu 37 6 151726967 151726967 + Missense_Mutation SNP A A G novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_017909.2 -1 validated p.M402T 1.000 191 0% 213 32.4% 23 47.8% benign(0.277) deleterious(0) deleterious(0.474) HMMPfam_DUF155 TIAM2 26230 genome.wustl.edu 37 6 155485665 155485665 + Silent SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_012454.3 +1 reviewed p.A715 0.011 41 0% 25 32% 0 - - - - NULL EZR 7430 genome.wustl.edu 37 6 159206394 159206394 + Silent SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001111077.1 -1 reviewed p.N138 1.000 117 0% 82 39% 125 50.4% - - - HMMPfam_FERM_M,superfamily_FERM_3-hlx,HMMSmart_B41 HOXA2 3199 genome.wustl.edu 37 7 27141877 27141877 + Silent SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_006735.3 -1 reviewed p.R81 1.000 14 0% 17 29.4% 0 - - - - NULL CPVL 54504 genome.wustl.edu 37 7 29111981 29111981 + Missense_Mutation SNP A A G novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_019029.2 -1 reviewed p.V223A 0.003 169 0% 206 33% 7 0% benign(0.001) tolerated(0.99) - HMMPfam_Peptidase_S10,superfamily_alpha/beta-Hydrolases GLI3 2737 genome.wustl.edu 37 7 42004378 42004378 + Silent SNP C C T rs28396689 byCluster TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_000168.5 -1 reviewed p.P1431 0.999 34 0% 31 51.6% 2 0% - - - NULL AEBP1 165 genome.wustl.edu 37 7 44151497 44151497 + Missense_Mutation SNP G G T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001129.3 +1 reviewed p.V629L 1.000 64 0% 48 14.6% 241 0.4% probably_damaging(0.962) deleterious(0.01) deleterious(0.810) HMMPfam_Peptidase_M14,HMMSmart_SM00631,PatternScan_CARBOXYPEPT_ZN_1,superfamily_Zn-dependent exopeptidases OGDH 4967 genome.wustl.edu 37 7 44715707 44715707 + Missense_Mutation SNP A A G novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_002541.3 +1 reviewed p.K389E 1.000 100 0% 95 23.2% 81 20.9% possibly_damaging(0.94) deleterious(0) deleterious(0.830) HMMPfam_E1_dh,superfamily_SSF52518 FIGNL1 63979 genome.wustl.edu 37 7 50513031 50513031 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001042762.1 -1 validated p.R652Q 1.000 132 0.8% 123 25.2% 3 33.3% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Vps4_C,superfamily_P-loop containing nucleoside triphosphate hydrolases ZNF92 168374 genome.wustl.edu 37 7 64864590 64864590 + Silent SNP C C A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_152626.2 +1 validated p.S521 0.002 75 0% 95 38.9% 2 50% - - - superfamily_C2H2 and C2HC zinc fingers KCTD7 154881 genome.wustl.edu 37 7 66104124 66104124 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_153033.3 +1 validated p.V259M 0.998 63 0% 53 45.3% 2 0% possibly_damaging(0.81) deleterious(0.01) deleterious(0.711) NULL CALN1 83698 genome.wustl.edu 37 7 71252873 71252873 + Missense_Mutation SNP G G T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_031468.3 -1 validated p.Q225K 1.000 187 0% 127 37.8% 6 50% benign(0) tolerated(0.42) neutral(0.014) NULL MDH2 4191 genome.wustl.edu 37 7 75684208 75684210 + In_Frame_Del DEL CTC CTC - novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_005918.2 +1 reviewed p.L44in_frame_del 1.000:0.999:0.500 - - - - - - - - - HMMPfam_Ldh_1_N,superfamily_NAD(P)-bd NPTX2 4885 genome.wustl.edu 37 7 98249165 98249165 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_002523.2 +1 reviewed p.E213* 1.000 33 0% 23 34.8% 1 0% - - - NULL GNB2 2783 genome.wustl.edu 37 7 100274422 100274423 + Frame_Shift_Ins INS - - GT novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_005273.3 +1 reviewed p.L69fs 1.000:1.000 - - - - - - - - - HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 SERPINE1 5054 genome.wustl.edu 37 7 100773916 100773916 + Missense_Mutation SNP G G T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_000602.3 +1 reviewed p.W162C 1.000 41 2.4% 41 22% 7 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin PPP1R3A 5506 genome.wustl.edu 37 7 113519436 113519436 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_002711.3 -1 reviewed p.A571T 0.000 127 0% 135 25.9% 0 - benign(0) tolerated(1) - NULL SND1 27044 genome.wustl.edu 37 7 127344904 127344910 + Frame_Shift_Del DEL CACAGAG CACAGAG - novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 CACAGAG CACAGAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_014390.2 +1 validated p.T285fs 1.000:1.000:1.000:0.986:1.000:1.000:1.000 - - - - - - - - - HMMPfam_SNase,HMMSmart_SNc,superfamily_Staphylococal_nuclease_OB-fold FLNC 2318 genome.wustl.edu 37 7 128482673 128482673 + Silent SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001458.4 +1 reviewed p.Y770 0.984 29 0% 23 26.1% 8 0% - - - HMMSmart_SM00557,superfamily_E set domains,HMMPfam_Filamin KIAA1549 57670 genome.wustl.edu 37 7 138552738 138552738 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_020910.2 -1 validated p.A1588T 1.000 77 1.3% 54 27.8% 4 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL MGAM 8972 genome.wustl.edu 37 7 141759683 141759683 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_004668.2 +1 reviewed p.Q1326* 0.016 152 0% 134 26.1% 0 - - - - HMMPfam_Glyco_hydro_31 FAM131B 9715 genome.wustl.edu 37 7 143054503 143054503 + Silent SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001031690.2 -1 validated p.Q160 1.000 70 0% 78 25.6% 0 - - - - NULL OR2F2 135948 genome.wustl.edu 37 7 143632554 143632554 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001004685.1 +1 provisional p.V77I 0.119 402 0% 301 28.6% 0 - benign(0) tolerated(1) - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like PAXIP1 22976 genome.wustl.edu 37 7 154752646 154752646 + Missense_Mutation SNP C C A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_007349.3 -1 reviewed p.Q797H 0.945 209 0% 187 17.1% 4 0% possibly_damaging(0.952) tolerated(0.11) deleterious(0.667) NULL PAXIP1 22976 genome.wustl.edu 37 7 154767473 154767473 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_007349.3 -1 reviewed p.R336Q 1.000 84 1.2% 98 30.6% 5 20% unknown(0) tolerated(0.33) - NULL RNF32 140545 genome.wustl.edu 37 7 156469254 156469254 + Silent SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_030936.2 +1 reviewed p.L332 0.452 74 0% 58 46.6% 2 100% - - - HMMSmart_SM00184,HMMPfam_zf-C3HC4,superfamily_RING/U-box MYOM2 9172 genome.wustl.edu 37 8 2037977 2037977 + Silent SNP G G T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_003970.2 +1 validated p.S597 0.763 97 0% 77 18.2% 1 0% - - - HMMPfam_fn3,superfamily_FN_III-like CSGALNACT1 55790 genome.wustl.edu 37 8 19362942 19362942 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001130518.1 -1 validated p.A135V 0.018 36 0% 45 40% 2 0% benign(0.036) tolerated(1) neutral(0.002) HMMPfam_CHGN KIAA1967 57805 genome.wustl.edu 37 8 22463290 22463290 + Missense_Mutation SNP T T C novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_021174.4 +1 validated p.S2P 1.000 97 0% 99 35.4% 33 36.3% benign(0.041) deleterious(0) neutral(0.447) NULL RHOBTB2 23221 genome.wustl.edu 37 8 22864657 22864657 + Missense_Mutation SNP T T C novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_015178.2 +1 validated p.L300P 1.000 58 0% 58 24.1% 3 33.3% benign(0.002) tolerated(0.12) neutral(0.261) HMMSmart_BTB,superfamily_BTB/POZ_fold TEX15 56154 genome.wustl.edu 37 8 30704677 30704677 + Silent SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_031271.3 -1 validated p.H619 0.047 95 0% 101 27.7% 0 - - - - NULL PURG 29942 genome.wustl.edu 37 8 30889929 30889929 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_013357.2 -1 reviewed p.E124K 1.000 42 0% 43 34.9% 1 0% possibly_damaging(0.907) tolerated(0.07) deleterious(0.679) HMMPfam_PurA,HMMSmart_SM00712 GOT1L1 137362 genome.wustl.edu 37 8 37795155 37795155 + Splice_Site SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_152413.2 -1 validated e3+1 0.999 83 0% 86 34.9% 0 - - - - - HOOK3 84376 genome.wustl.edu 37 8 42821745 42821745 + Silent SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_032410.3 +1 validated p.I303 1.000 152 0% 158 34.8% 2 0% - - - HMMPfam_HOOK RAB2A 5862 genome.wustl.edu 37 8 61504509 61504509 + Missense_Mutation SNP C C G novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_002865.1 +1 provisional p.T152S 1.000 103 0% 101 40.6% 79 41.7% benign(0.009) tolerated(0.09) neutral(0.297) HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases VCPIP1 80124 genome.wustl.edu 37 8 67578218 67578218 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_025054.4 -1 validated p.L326F 1.000 63 0% 58 41.4% 2 50% possibly_damaging(0.922) deleterious(0.01) deleterious(0.777) HMMPfam_OTU RBM12B 389677 genome.wustl.edu 37 8 94747621 94747621 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_203390.2 -1 validated p.A340T 0.991 115 0% 103 29.1% 2 0% probably_damaging(0.989) deleterious(0) deleterious(0.884) HMMSmart_SM00360,superfamily_RNA-binding domain RBD MTDH 92140 genome.wustl.edu 37 8 98656790 98656790 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_178812.3 +1 validated p.A19V 1.000 7 0.000 4 1.000 28 35.7% probably_damaging(0.99) tolerated(0.07) deleterious(0.760) NULL VPS13B 157680 genome.wustl.edu 37 8 100874126 100874126 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_017890.3 +1 reviewed p.G3748S 1.000 22 0% 14 28.6% 3 0% benign(0.001) tolerated(0.46) neutral(0.012) NULL UBR5 51366 genome.wustl.edu 37 8 103354727 103354729 + In_Frame_Del DEL CTC CTC - novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_015902.4 -1 reviewed p.G357in_frame_del 1.000:1.000:1.000 - - - - - - - - - NULL RIMS2 9699 genome.wustl.edu 37 8 104897732 104897732 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001100117.1 +1 validated p.R302K 1.000 191 0% 160 36.9% 0 - benign(0.407) tolerated(0.41) neutral(0.147) NULL KCNV1 27012 genome.wustl.edu 37 8 110980663 110980663 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_014379.2 -1 reviewed p.A386V 1.000 108 0% 87 33.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels ENPP2 5168 genome.wustl.edu 37 8 120583054 120583054 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_006209.3 -1 reviewed p.A655V 1.000 59 0% 61 27.9% 36 0% probably_damaging(1) tolerated(0.11) deleterious(0.772) superfamily_His-Me finger endonucleases MTBP 27085 genome.wustl.edu 37 8 121509638 121509638 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_022045.3 +1 provisional p.R485* 0.979 113 0% 122 31.1% 0 - - - - NULL SLC45A4 57210 genome.wustl.edu 37 8 142221643 142221643 + Silent SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001080431.1 -1 provisional p.S765 0.000 28 0% 44 20.5% 21 9.5% - - - NULL TSNARE1 203062 genome.wustl.edu 37 8 143395795 143395795 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_145003.3 -1 validated p.A361T 1.000 122 0% 92 34.8% 2 0% probably_damaging(0.999) deleterious(0.05) deleterious(0.836) superfamily_t-snare PLEC 5339 genome.wustl.edu 37 8 144991617 144991617 + Missense_Mutation SNP C C A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_201380.2 -1 reviewed p.K4261N 1.000 38 0% 33 27.3% 129 27.1% probably_damaging(0.999) - - NULL LRRC14 9684 genome.wustl.edu 37 8 145745272 145745272 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_014665.1 +1 provisional p.P55S 1.000 52 0% 38 36.8% 11 18.1% possibly_damaging(0.915) deleterious(0) deleterious(0.811) NULL ZNF250 58500 genome.wustl.edu 37 8 146107077 146107077 + Silent SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_021061.3 -1 validated p.T502 0.006 142 0% 102 28.4% 9 22.2% - - - superfamily_C2H2 and C2HC zinc fingers KDM4C 23081 genome.wustl.edu 37 9 6986591 6986591 + Missense_Mutation SNP C C A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_015061.3 +1 reviewed p.S534R 0.712 182 0% 166 35.5% 9 22.2% possibly_damaging(0.805) tolerated(0.49) neutral(0.314) NULL PTPRD 5789 genome.wustl.edu 37 9 8521469 8521469 + Missense_Mutation SNP A A G novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_002839.3 -1 reviewed p.C257R 1.000 101 1% 117 34.2% 0 - possibly_damaging(0.579) deleterious(0) deleterious(0.643) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin MLLT3 4300 genome.wustl.edu 37 9 20413785 20413785 + Silent SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_004529.2 -1 validated p.P353 0.012 225 0% 233 40.3% 8 25% - - - NULL KLHL9 55958 genome.wustl.edu 37 9 21333755 21333755 + Silent SNP T T A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_018847.2 -1 validated p.T368 0.999 141 0% 145 29.7% 10 40% - - - HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain MTAP 4507 genome.wustl.edu 37 9 21854797 21854797 + Missense_Mutation SNP G G T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_002451.3 +1 reviewed p.K206N 0.998 110 0% 76 26.3% 17 35.2% benign(0.254) tolerated(0.28) neutral(0.057) HMMPfam_PNP_UDP_1,superfamily_Purine and uridine phosphorylases TAF1L 138474 genome.wustl.edu 37 9 32632209 32632209 + Silent SNP A A G novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_153809.2 -1 provisional p.I1123 0.999 406 0% 376 23.1% 2 0% - - - NULL BAG1 573 genome.wustl.edu 37 9 33255224 33255224 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_004323.5 -1 reviewed p.A344V 0.886 67 0% 78 35.9% 116 41.3% possibly_damaging(0.672) tolerated(0.06) deleterious(0.560) superfamily_BAG domain KIF24 347240 genome.wustl.edu 37 9 34256486 34256486 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_194313.2 -1 validated p.T1040M 0.000 104 0% 91 33% 2 0% probably_damaging(0.97) tolerated(0.4) neutral(0.428) NULL RUSC2 9853 genome.wustl.edu 37 9 35546783 35546783 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001135999.1 +1 validated p.R89W 0.994 45 0% 58 29.3% 6 16.6% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL SIT1 27240 genome.wustl.edu 37 9 35650211 35650211 + Silent SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_014450.2 -1 validated p.Q109 0.109 131 0% 136 35.3% 2 0% - - - NULL C9orf100 84904 genome.wustl.edu 37 9 35663363 35663363 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_032818.2 -1 provisional p.A167V 1.000 171 0% 162 32.1% 7 42.8% benign(0.377) tolerated(1) neutral(0.120) HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) TMEM8B 51754 genome.wustl.edu 37 9 35853718 35853718 + Missense_Mutation SNP G G T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001042589.1 +1 provisional p.G434W 0.349 79 0% 42 21.4% 10 20% benign(0.236) deleterious(0.02) neutral(0.407) NULL PRKACG 5568 genome.wustl.edu 37 9 71628426 71628426 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_002732.3 -1 reviewed p.R195C 0.940 47 0% 41 12.2% 0 - probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase TJP2 9414 genome.wustl.edu 37 9 71854872 71854872 + Missense_Mutation SNP A A G novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_004817.3 +1 reviewed p.D792G 1.000 175 0% 165 26.7% 29 31% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Guanylate_kin,HMMSmart_SM00072,superfamily_P-loop containing nucleoside triphosphate hydrolases TMEM2 23670 genome.wustl.edu 37 9 74365225 74365225 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_013390.2 -1 validated p.R22H 0.995 133 0% 93 35.5% 11 36.3% benign(0) tolerated(0.15) neutral(0.241) NULL GNAQ 2776 genome.wustl.edu 37 9 80409421 80409421 + Silent SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_002072.2 -1 provisional p.A231 0.987 258 0% 240 30.8% 14 35.7% - - - HMMPfam_G-alpha,HMMSmart_SM00275,superfamily_P-loop containing nucleoside triphosphate hydrolases CEP78 84131 genome.wustl.edu 37 9 80877899 80877899 + Missense_Mutation SNP A A G novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001098802.1 +1 validated p.E487G 1.000 157 0% 200 36.5% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PSAT1 29968 genome.wustl.edu 37 9 80923441 80923441 + Silent SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_058179.2 +1 reviewed p.L228 0.998 223 0.4% 189 37% 170 51.7% - - - HMMPfam_Aminotran_5,superfamily_PLP-dependent transferases DAPK1 1612 genome.wustl.edu 37 9 90255343 90255343 + Silent SNP A A C novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_004938.2 +1 reviewed p.R254 1.000 128 0% 128 21.9% 4 25% - - - HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase DAPK1 1612 genome.wustl.edu 37 9 90263717 90263717 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_004938.2 +1 reviewed p.V451M 1.000 79 0% 71 22.5% 8 37.5% probably_damaging(0.964) deleterious(0.01) deleterious(0.812) HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK DAPK1 1612 genome.wustl.edu 37 9 90301581 90301581 + Silent SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_004938.2 +1 reviewed p.P780 0.002 94 0% 80 50% 9 22.2% - - - superfamily_SSF52540 C9orf79 286234 genome.wustl.edu 37 9 90502501 90502501 + Silent SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_178828.4 +1 validated p.L1033 0.000 52 0% 39 25.6% 0 - - - - NULL ABCA1 19 genome.wustl.edu 37 9 107566914 107566914 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_005502.2 -1 reviewed p.A1518T 1.000 281 0.4% 273 36.3% 8 12.5% benign(0.025) tolerated(0.26) neutral(0.035) NULL ZNF462 58499 genome.wustl.edu 37 9 109687834 109687834 + Silent SNP A A G novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_021224.4 +1 validated p.P547 0.196 164 0% 111 29.7% 0 - - - - superfamily_beta-sandwich domain of Sec23/24 TNC 3371 genome.wustl.edu 37 9 117797524 117797524 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_002160.2 -1 validated p.G1916S 1.000 59 0% 56 25% 110 30% probably_damaging(0.981) tolerated(0.65) neutral(0.428) HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like MORN5 254956 genome.wustl.edu 37 9 124936830 124936830 + Silent SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_198469.2 +1 validated p.Y121 0.977 223 0% 202 30.2% 0 - - - - superfamily_SSF82185 PBX3 5090 genome.wustl.edu 37 9 128691973 128691973 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_006195.5 +1 validated p.R186* 1.000 227 0.4% 215 38.6% 0 - - - - HMMPfam_PBC SPTAN1 6709 genome.wustl.edu 37 9 131353784 131353784 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001130438.1 +1 validated p.R1012H 1.000 227 0% 209 36.4% 44 29.5% possibly_damaging(0.908) tolerated(0.24) neutral(0.399) HMMPfam_SH3_1,HMMSmart_SH3,superfamily_SH3,HMMSmart_SPEC,superfamily_Spectrin ZER1 10444 genome.wustl.edu 37 9 131517725 131517725 + Silent SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_006336.2 -1 provisional p.I40 1.000 76 0% 61 26.2% 15 26.6% - - - NULL LAMC3 10319 genome.wustl.edu 37 9 133954657 133954657 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_006059.3 +1 reviewed p.T1300M 0.000 30 0% 25 52% 43 0% benign(0) tolerated(0.06) neutral(0.323) NULL GFI1B 8328 genome.wustl.edu 37 9 135866405 135866405 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_004188.4 +1 validated p.R321W 0.993 40 0% 40 40% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers LOC100289412 100289412 genome.wustl.edu 37 9 135983881 135983881 + Missense_Mutation SNP C C A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af XM_002344240.1 +1 model p.L131I 0.000 22 0% 18 38.9% 0 - - - - NULL ADAMTS13 11093 genome.wustl.edu 37 9 136321304 136321304 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_139025.3 +1 reviewed p.R1228C 0.604 34 0% 34 32.4% 2 50% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) superfamily_Spermadhesin CUB domain DPP7 29952 genome.wustl.edu 37 9 140006600 140006600 + Silent SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_013379.2 -1 reviewed p.C338 0.614 46 0% 27 33.3% 267 36.3% - - - HMMPfam_Peptidase_S28 FRMD4A 55691 genome.wustl.edu 37 10 13716919 13716919 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_018027.3 -1 validated p.R415* 1.000 157 0% 168 35.7% 3 33.3% - - - NULL FRMD4A 55691 genome.wustl.edu 37 10 13743422 13743422 + Missense_Mutation SNP T T C novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_018027.3 -1 validated p.Y298C 1.000 128 0% 105 27.6% 4 50% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_FERM_C,superfamily_SSF50729 MTPAP 55149 genome.wustl.edu 37 10 30615443 30615443 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_018109.3 -1 validated p.G301D 0.998 86 0% 68 35.3% 5 0% possibly_damaging(0.917) tolerated(0.59) neutral(0.372) superfamily_Nucleotidyltransferase PARD3 56288 genome.wustl.edu 37 10 34671849 34671849 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_019619.3 -1 validated p.A340T 1.000 116 0% 117 39.3% 8 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00228,superfamily_PDZ domain-like ANKRD30A 91074 genome.wustl.edu 37 10 37419131 37419131 + Splice_Site SNP A A G novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_052997.2 +1 validated e3-2 0.994 99 0% 95 42.1% 0 - - - - - LOC646360 646360 genome.wustl.edu 37 10 37626958 37626958 + RNA SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af XR_078419.1 +1 model NULL 0.384 99 0% 116 44.8% 0 - - - - - ZNF33A 7581 genome.wustl.edu 37 10 38344672 38344672 + Silent SNP C C A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_006954.1 +1 validated p.L540 0.007 183 0% 198 35.9% 11 27.2% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers CCNYL2 414194 genome.wustl.edu 37 10 42916266 42916266 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af ENST00000431603 -1 known p.W178* 1.000 29 0% 35 20% 0 - benign(0.002) deleterious(0.01) neutral(0.406) HMMSmart_SM00385,HMMPfam_Cyclin_N,superfamily_Cyclin-like ZNF239 8187 genome.wustl.edu 37 10 44053305 44053305 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001099282.1 -1 validated p.Q75* 0.000 268 0% 253 30.8% 3 33.3% - - - NULL PCDH15 65217 genome.wustl.edu 37 10 55568773 55568773 + Missense_Mutation SNP C C A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001142769.1 -1 reviewed p.E1684D 0.008 243 0% 205 11.7% 0 - unknown(0) tolerated(0.14) - NULL SGPL1 8879 genome.wustl.edu 37 10 72636965 72636965 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_003901.3 +1 validated p.G527D 1.000 132 0% 146 35.6% 64 39% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PTEN 5728 genome.wustl.edu 37 10 89690811 89690811 + Frame_Shift_Del DEL A A - novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af ENST00000371953 +1 known p.R74fs 1.000 - - - - - - - - - HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II TNKS2 80351 genome.wustl.edu 37 10 93608178 93608178 + Silent SNP C C A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_025235.3 +1 validated p.P799 0.707 66 0% 49 53.1% 7 85.7% - - - NULL BTAF1 9044 genome.wustl.edu 37 10 93718894 93718894 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_003972.2 +1 validated p.D325N 1.000 278 0% 181 51.9% 1 0% benign(0.003) tolerated(0.39) neutral(0.016) superfamily_ARM repeat CPEB3 22849 genome.wustl.edu 37 10 93999139 93999140 + Frame_Shift_Ins INS - - A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_014912.4 -1 validated p.R324fs 1.000:1.000 - - - - - - - - - NULL MMS19 64210 genome.wustl.edu 37 10 99226300 99226300 + Missense_Mutation SNP A A C novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_022362.4 -1 validated p.L489R 0.994 127 0% 144 27.1% 21 28.5% probably_damaging(0.994) deleterious(0) deleterious(0.897) superfamily_ARM repeat SEC31B 25956 genome.wustl.edu 37 10 102249984 102249984 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_015490.3 -1 reviewed p.P916S 0.001 106 0% 88 31.8% 1 100% benign(0) tolerated(0.45) neutral(0.012) NULL NFKB2 4791 genome.wustl.edu 37 10 104160052 104160052 + Silent SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001077494.1 +1 validated p.A534 0.010 25 0% 28 25% 72 25% - - - HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat CUEDC2 79004 genome.wustl.edu 37 10 104183288 104183288 + Silent SNP C C G novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_024040.2 -1 validated p.V253 0.998 161 0% 172 36% 185 42.1% - - - NULL VWA2 340706 genome.wustl.edu 37 10 116046111 116046111 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_198496.1 +1 provisional p.R471* 0.187 33 0% 23 26.1% 6 0% - - - HMMPfam_VWA,HMMSmart_VWA,superfamily_SSF53300 FAM45A 404636 genome.wustl.edu 37 10 120871420 120871420 + Silent SNP C C A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_207009.2 +1 validated p.A104 1.000 343 0% 374 31.8% 7 28.5% unknown(0) - - NULL GRK5 2869 genome.wustl.edu 37 10 121214717 121214717 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af ENST00000457057 +1 known p.R354* 0.000 23 0% 23 26.1% 4 25% - - - NULL PKP3 11187 genome.wustl.edu 37 11 399132 399132 + Silent SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_007183.2 +1 reviewed p.N403 0.992 96 0% 68 19.1% 101 39.6% - - - HMMPfam_Arm,HMMSmart_ARM,superfamily_ARM-type_fold CHID1 66005 genome.wustl.edu 37 11 883187 883187 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001142676.1 -1 validated p.A332V 0.014 43 0% 31 16.1% 307 1.6% benign(0) tolerated(0.58) neutral(0.005) HMMPfam_Glyco_hydro_18,HMMSmart_Glyco_18,superfamily_Glyco_hydro_cat AP2A2 161 genome.wustl.edu 37 11 1009702 1009702 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_012305.2 +1 validated p.A876V 1.000 98 0% 95 32.6% 129 41% probably_damaging(0.998) tolerated(0.17) deleterious(0.533) HMMPfam_Alpha_adaptin_C,superfamily_Subdomain of clathrin and coatomer appendage domain MUC2 4583 genome.wustl.edu 37 11 1097728 1097728 + Missense_Mutation SNP C C A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_002457.2 +1 reviewed p.P2270H 0.974 88 0% 82 28% 0 - unknown(0) - - HMMPfam_VWD,HMMSmart_SM00216 MUC5B 727897 genome.wustl.edu 37 11 1264580 1264580 + Missense_Mutation SNP C C A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_002458.1 +1 validated p.P2160H 0.002 314 0% 232 57.8% 9 66.6% probably_damaging(1) - - NULL MUC5B 727897 genome.wustl.edu 37 11 1270286 1270286 + Frame_Shift_Del DEL C C - novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_002458.1 +1 validated p.Q4063fs 0.013 - - - - - - - - - NULL CARS 833 genome.wustl.edu 37 11 3023227 3023227 + Silent SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001014437.1 -1 reviewed p.T778 0.000 140 0% 124 27.4% 74 52.7% - - - NULL CCKBR 887 genome.wustl.edu 37 11 6292299 6292299 + Silent SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_176875.2 +1 reviewed p.S290 0.027 58 1.7% 61 45.9% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like DNHD1 144132 genome.wustl.edu 37 11 6591500 6591500 + Missense_Mutation SNP C C G novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_144666.2 +1 provisional p.L4327V 0.027 39 0% 42 28.6% 0 - benign(0) tolerated(1) - HMMPfam_Dynein_heavy SCUBE2 57758 genome.wustl.edu 37 11 9069593 9069593 + Missense_Mutation SNP G G T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_020974.2 -1 validated p.S535R 0.999 110 0% 112 36.6% 8 12.5% benign(0.001) tolerated(0.08) neutral(0.300) NULL ZBED5 58486 genome.wustl.edu 37 11 10875819 10875819 + Missense_Mutation SNP A A G novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001143667.1 -1 reviewed p.V225A 0.927 143 0% 131 37.4% 9 22.2% benign(0.03) tolerated(0.6) neutral(0.006) NULL SOX6 55553 genome.wustl.edu 37 11 16036586 16036586 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_033326.3 -1 reviewed p.R545H 1.000 189 0% 158 29.1% 0 - benign(0.002) tolerated(0.55) neutral(0.007) NULL KCNC1 3746 genome.wustl.edu 37 11 17801129 17801129 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001112741.1 +1 reviewed p.G544E 1.000 34 0% 39 41% 0 - benign(0.001) tolerated(0.76) neutral(0.001) NULL WT1-AS 51352 genome.wustl.edu 37 11 32460525 32460525 + Missense_Mutation SNP T T C novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af ENST00000395900 +1 known p.M33T 0.001 46 0% 30 13.3% 0 - - - - NULL CCDC73 493860 genome.wustl.edu 37 11 32781675 32781675 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001008391.2 -1 validated p.E39* 1.000 150 0% 168 33.9% 0 - - - - NULL TNKS1BP1 85456 genome.wustl.edu 37 11 57081067 57081067 + Silent SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_033396.2 -1 validated p.P365 0.000 19 0% 14 35.7% 38 34.2% - - - NULL UBXN1 51035 genome.wustl.edu 37 11 62445053 62445053 + Silent SNP A A C novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_015853.3 -1 provisional p.P196 1.000 61 0% 55 32.7% 231 39.3% - - - NULL FERMT3 83706 genome.wustl.edu 37 11 63978768 63978768 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_178443.2 +1 reviewed p.R179Q 1.000 6 0.000 7 0.571 12 0% possibly_damaging(0.877) tolerated(0.67) neutral(0.344) HMMSmart_SM00295 RBM4 5936 genome.wustl.edu 37 11 66411420 66411420 + Silent SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_002896.2 +1 validated p.Y304 1.000 42 0% 48 27.1% 66 34.8% - - - NULL CORO1B 57175 genome.wustl.edu 37 11 67208620 67208620 + Silent SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001018070.1 -1 validated p.E244 1.000 19 0% 24 41.7% 230 40.8% - - - superfamily_WD40 repeat-like PDE2A 5138 genome.wustl.edu 37 11 72385235 72385235 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_002599.3 -1 validated p.G6D 1.000 16 0% 14 28.6% 0 - probably_damaging(0.981) deleterious(0) deleterious(0.870) NULL MYO7A 4647 genome.wustl.edu 37 11 76873950 76873950 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_000260.3 +1 reviewed p.A536T 0.813 430 0% 364 33.2% 1 0% benign(0) tolerated(0.42) neutral(0.014) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases PAK1 5058 genome.wustl.edu 37 11 77066713 77066713 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001128620.1 -1 reviewed p.R258* 1.000 374 0% 357 32.5% 24 0% - - - superfamily_Kinase_like USP35 57558 genome.wustl.edu 37 11 77911784 77911784 + Missense_Mutation SNP T T C novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_020798.2 +1 provisional p.L376P 1.000 84 0% 96 26% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL SYTL2 54843 genome.wustl.edu 37 11 85438837 85438837 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af ENST00000359152 -1 known p.V79I 1.000 36 0% 28 39.3% 0 - possibly_damaging(0.753) deleterious(0) deleterious(0.721) NULL NAALAD2 10003 genome.wustl.edu 37 11 89906996 89906996 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_005467.3 +1 reviewed p.P472L 0.037 242 0% 296 32.1% 1 0% benign(0.001) tolerated(0.07) neutral(0.319) superfamily_Zn-dependent exopeptidases FAT3 120114 genome.wustl.edu 37 11 92532369 92532369 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001008781.2 +1 validated p.R2064C 1.000 118 0% 118 34.7% 0 - probably_damaging(0.998) tolerated(0.08) deleterious(0.774) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like PGR 5241 genome.wustl.edu 37 11 100996755 100996757 + In_Frame_Del DEL AAG AAG - novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 AAG AAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_000926.4 -1 reviewed p.F591in_frame_del 1.000:1.000:1.000 - - - - - - - - - HMMPfam_zf-C4,HMMSmart_SM00399,PatternScan_NUCLEAR_REC_DBD_1,superfamily_Glucocorticoid receptor-like (DNA-binding domain) BACE1 23621 genome.wustl.edu 37 11 117160401 117160401 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_012104.3 -1 reviewed p.A463T 1.000 118 0% 71 40.8% 20 5% probably_damaging(0.999) tolerated(0.15) deleterious(0.732) NULL RNF26 79102 genome.wustl.edu 37 11 119206365 119206365 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_032015.3 +1 reviewed p.W178* 1.000 134 0% 106 39.6% 27 37% - - - NULL MFRP 83552 genome.wustl.edu 37 11 119213384 119213384 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_031433.2 -1 reviewed p.Q437* 0.991 93 0% 74 33.8% 0 - - - - HMMSmart_SM00192,superfamily_LDL receptor-like module ZNF202 7753 genome.wustl.edu 37 11 123600364 123600364 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_003455.2 -1 validated p.R191H 0.924 141 0% 85 34.1% 1 0% benign(0.164) tolerated(0.17) neutral(0.074) NULL CDON 50937 genome.wustl.edu 37 11 125867275 125867275 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_016952.4 -1 validated p.S730F 1.000 110 0% 109 32.1% 2 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III TIRAP 114609 genome.wustl.edu 37 11 126160803 126160806 + Frame_Shift_Del DEL CCTC CCTC - novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 CCTC CCTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_148910.2 +1 reviewed p.L7fs 0.972:0.992:0.993:0.988 - - - - - - - - - NULL NRIP2 83714 genome.wustl.edu 37 12 2936379 2936379 + Silent SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_031474.2 -1 validated p.G280 1.000 70 0% 41 29.3% 1 0% - - - NULL PHC1 1911 genome.wustl.edu 37 12 9085436 9085436 + Silent SNP T T G novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_004426.2 +1 reviewed p.P461 0.014 529 0% 434 21.9% 4 25% - - - NULL STYK1 55359 genome.wustl.edu 37 12 10783732 10783732 + Silent SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_018423.2 -1 validated p.C121 0.003 117 0% 81 33.3% 2 50% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) MIR613 693198 genome.wustl.edu 37 12 12917633 12917633 + RNA SNP A A T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af ENST00000385248 +1 known NULL 0.001 417 0% 395 28.4% 0 - - - - - KRAS 3845 genome.wustl.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A rs121913529 byCluster TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_033360.2 -1 reviewed p.G12V 1.000 245 0% 224 30.4% 6 33.3% benign(0.048) deleterious(0) neutral(0.448) HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases ITPR2 3709 genome.wustl.edu 37 12 26628252 26628252 + Missense_Mutation SNP T T C novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_002223.2 -1 validated p.N2107D 1.000 207 0% 217 20.3% 8 12.5% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL IRAK4 51135 genome.wustl.edu 37 12 44167810 44167810 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001114182.2 +1 reviewed p.Q232* 1.000 267 0% 268 37.3% 3 0% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase COL2A1 1280 genome.wustl.edu 37 12 48368057 48368057 + Missense_Mutation SNP G G T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001844.4 -1 reviewed p.L1378I 1.000 162 0% 109 12.8% 5 0% unknown(0) deleterious(0.04) - HMMPfam_COLFI,HMMSmart_SM00038 MLL2 8085 genome.wustl.edu 37 12 49416411 49416411 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_003482.3 -1 validated p.E5434K 1.000 140 0% 105 32.4% 18 44.4% unknown(0) - - HMMPfam_SET,HMMSmart_SM00317,superfamily_SET domain FMNL3 91010 genome.wustl.edu 37 12 50045816 50045816 + Silent SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_175736.4 -1 validated p.S501 0.002 37 0% 26 42.3% 4 0% - - - NULL LOC100288977 100288977 genome.wustl.edu 37 12 54689073 54689073 + Frame_Shift_Del DEL A A - novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af XM_002343168.1 +1 model p.R230fs 0.215 - - - - - - - - - NULL ZNF385A 25946 genome.wustl.edu 37 12 54764494 54764494 + Silent SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001130967.1 -1 validated p.S282 1.000 49 0% 23 34.8% 18 5.5% - - - HMMSmart_SM00451,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ITGA5 3678 genome.wustl.edu 37 12 54802018 54802018 + Silent SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_002205.2 -1 reviewed p.G231 1.000 124 0% 123 31.7% 23 8.6% - - - superfamily_SSF69318 ITGA7 3679 genome.wustl.edu 37 12 56082676 56082676 + Silent SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001144996.1 -1 reviewed p.A974 0.000 50 0% 42 28.6% 6 16.6% - - - superfamily_Integrin domains ERBB3 2065 genome.wustl.edu 37 12 56481844 56481844 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001982.2 +1 reviewed p.R258C 0.985 124 0% 120 32.5% 10 50% benign(0.164) deleterious(0.01) neutral(0.421) HMMPfam_Furin-like,HMMSmart_SM00261,superfamily_Growth factor receptor domain ERBB3 2065 genome.wustl.edu 37 12 56493709 56493714 + In_Frame_Del DEL CTAGAC CTAGAC - novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 CTAGAC CTAGAC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001982.2 +1 reviewed p.DL1012in_frame_del 0.681:0.714:0.666:1.000:1.000:0.991 - - - - - - - - - NULL LRP1 4035 genome.wustl.edu 37 12 57598212 57598212 + Silent SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_002332.2 +1 reviewed p.D3657 0.882 57 0% 61 54.1% 68 0% - - - HMMPfam_Ldl_recept_a,HMMSmart_SM00192,superfamily_LDL receptor-like module LRP1 4035 genome.wustl.edu 37 12 57601951 57601951 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_002332.2 +1 reviewed p.S3997L 1.000 37 0% 32 15.6% 90 1.1% possibly_damaging(0.947) tolerated(0.06) deleterious(0.713) HMMPfam_Ldl_recept_b,HMMSmart_SM00135,superfamily_YWTD domain CYP27B1 1594 genome.wustl.edu 37 12 58157437 58157437 + Missense_Mutation SNP C C G novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_000785.3 -1 reviewed p.G457A 1.000 71 0% 71 50.7% 1 0% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_p450,superfamily_Cytochrome P450,PatternScan_CYTOCHROME_P450 E2F7 144455 genome.wustl.edu 37 12 77440093 77440093 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_203394.2 -1 validated p.R185H 1.000 81 0% 69 36.2% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) "HMMPfam_E2F_TDP,superfamily_""Winged helix"" DNA-binding domain" PTPRQ 374462 genome.wustl.edu 37 12 80838523 80838523 + Silent SNP T T C novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af ENST00000266688 +1 known p.V19 1.000 392 0% 384 25.8% 0 - - - - NULL EPYC 1833 genome.wustl.edu 37 12 91371958 91371958 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_004950.4 -1 reviewed p.E83K 0.996 94 0% 100 26% 0 - benign(0.15) tolerated(0.39) neutral(0.029) NULL EEA1 8411 genome.wustl.edu 37 12 93244947 93244947 + Silent SNP T T G novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_003566.3 -1 validated p.R246 0.958 177 0% 186 37.6% 1 100% - - - NULL NTN4 59277 genome.wustl.edu 37 12 96181085 96181085 + Missense_Mutation SNP G G A rs34114770 byCluster;byFrequency;by1000genomes TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_021229.3 -1 validated p.R73W 0.019 106 0% 81 38.3% 5 40% probably_damaging(0.958) tolerated(0.06) deleterious(0.724) HMMPfam_Laminin_N,HMMSmart_SM00136 SPIC 121599 genome.wustl.edu 37 12 101873459 101873459 + Missense_Mutation SNP G G T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_152323.1 +1 provisional p.W66L 1.000 147 0% 140 20.7% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL ALDH1L2 160428 genome.wustl.edu 37 12 105445995 105445995 + Missense_Mutation SNP T T A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001034173.3 -1 reviewed p.T470S 1.000 267 0% 251 23.9% 4 25% benign(0) deleterious(0.01) neutral(0.406) HMMPfam_Aldedh,superfamily_ALDH-like RFX4 5992 genome.wustl.edu 37 12 107114605 107114605 + Silent SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_213594.1 +1 reviewed p.F434 0.993 90 0% 87 36.8% 0 - - - - NULL UBE3B 89910 genome.wustl.edu 37 12 109921448 109921448 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_130466.2 +1 reviewed p.R31Q 0.995 204 0% 155 28.4% 19 5.2% possibly_damaging(0.718) tolerated(0.54) neutral(0.268) HMMPfam_IQ,HMMSmart_SM00015 ACAD10 80724 genome.wustl.edu 37 12 112191644 112191644 + Silent SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001136538.1 +1 reviewed p.Q993 0.864 16 0% 15 40% 25 48% - - - HMMPfam_Acyl-CoA_dh_1,superfamily_Acyl-CoA dehydrogenase C-terminal domain-like NAA25 80018 genome.wustl.edu 37 12 112518862 112518862 + Splice_Site SNP A A T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_024953.3 -1 reviewed e5+2 1.000 130 0% 177 29.9% 0 - - - - - C12orf51 283450 genome.wustl.edu 37 12 112601047 112601047 + Missense_Mutation SNP C C A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001109662.2 -1 validated p.G3885W 1.000 87 1.1% 72 19.4% 8 37.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain PTPN11 5781 genome.wustl.edu 37 12 112940012 112940012 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_002834.3 +1 reviewed p.G555E 1.000 104 0% 97 37.1% 20 20% benign(0.344) tolerated(0.05) neutral(0.454) NULL MED13L 23389 genome.wustl.edu 37 12 116457218 116457218 + Splice_Site SNP C C A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_015335.3 -1 validated e7-1 1.000 109 0% 105 33.3% 0 - - - - - PXN 5829 genome.wustl.edu 37 12 120650247 120650247 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001080855.1 -1 validated p.A549V 1.000 92 0% 63 25.4% 88 37.5% possibly_damaging(0.893) deleterious(0.04) deleterious(0.701) HMMPfam_LIM,HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,superfamily_Glucocorticoid receptor-like (DNA-binding domain) ACADS 35 genome.wustl.edu 37 12 121177162 121177162 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_000017.2 +1 reviewed p.D384N 0.998 8 0.000 6 0.667 48 35.4% probably_damaging(0.978) tolerated(0.06) deleterious(0.743) PatternScan_ACYL_COA_DH_2,HMMPfam_Acyl-CoA_dh_1,superfamily_AcylCoADH_C_like VPS33A 65082 genome.wustl.edu 37 12 122735607 122735607 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_022916.4 -1 validated p.A175T 0.997 79 0% 62 29% 11 27.2% benign(0.001) tolerated(0.21) neutral(0.044) HMMPfam_Sec1,superfamily_Sec1-like OGFOD2 79676 genome.wustl.edu 37 12 123461501 123461501 + Silent SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_024623.1 +1 provisional p.R69 0.078 33 0% 36 58.3% 25 48% - - - NULL SETD8 387893 genome.wustl.edu 37 12 123875327 123875327 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_020382.3 +1 validated p.R95* 1.000 213 0% 218 25.2% 10 20% - - - NULL TCTN2 79867 genome.wustl.edu 37 12 124171500 124171500 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_024809.3 +1 validated p.V228I 0.000 144 0% 143 42.7% 14 35.7% benign(0.049) tolerated(0.41) neutral(0.018) HMMPfam_DUF1619 DHX37 57647 genome.wustl.edu 37 12 125465143 125465143 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_032656.2 -1 reviewed p.P211S 0.000 34 0% 35 25.7% 11 63.6% unknown(0) tolerated(0.57) - NULL DHX37 57647 genome.wustl.edu 37 12 125465270 125465272 + In_Frame_Del DEL CTC CTC - novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_032656.2 -1 reviewed p.E168in_frame_del 0.904:0.904:0.905 - - - - - - - - - NULL EP400 57634 genome.wustl.edu 37 12 132504667 132504667 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_015409.3 +1 validated p.R1450W 1.000 37 0% 24 29.2% 3 33.3% unknown(0) - - NULL OLFM4 10562 genome.wustl.edu 37 13 53624335 53624335 + Missense_Mutation SNP T T C novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_006418.3 +1 reviewed p.L321S 0.000 126 0% 113 38.1% 2 100% benign(0) tolerated(0.38) neutral(0.018) HMMPfam_OLF,HMMSmart_OLF OLFM4 10562 genome.wustl.edu 37 13 53624366 53624366 + Silent SNP A A C novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_006418.3 +1 reviewed p.T331 0.000 107 0% 121 30.6% 0 - - - - HMMPfam_OLF,HMMSmart_OLF LOC643677 643677 genome.wustl.edu 37 13 103398609 103398609 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af XM_002344085.1 -1 model p.Q1409* 0.164 65 0% 78 37.2% 0 - - - - NULL PROZ 8858 genome.wustl.edu 37 13 113819434 113819434 + Missense_Mutation SNP G G T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_003891.1 +1 provisional p.Q191H 1.000 71 0% 67 29.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases ATP4B 496 genome.wustl.edu 37 13 114306017 114306017 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_000705.3 -1 reviewed p.G194D 0.001 32 0% 29 44.8% 0 - benign(0.086) tolerated(0.19) neutral(0.056) HMMPfam_Na_K-ATPase GRK1 6011 genome.wustl.edu 37 13 114325866 114325866 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af ENST00000335678 +1 known p.A294T 0.980 35 0% 34 11.8% 0 - possibly_damaging(0.777) deleterious(0.03) deleterious(0.654) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase RNASE2 6036 genome.wustl.edu 37 14 21423989 21423989 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_002934.2 +1 validated p.A20V 0.000 90 0% 95 29.5% 1 0% benign(0.15) tolerated(0.19) neutral(0.062) NULL MYH7 4625 genome.wustl.edu 37 14 23887568 23887568 + Silent SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_000257.2 -1 reviewed p.C1340 0.697 29 0% 31 38.7% 0 - - - - HMMPfam_Myosin_tail_1 IPO4 79711 genome.wustl.edu 37 14 24651008 24651008 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_024658.3 -1 validated p.A950V 1.000 59 0% 47 34% 102 46% benign(0.009) tolerated(0.21) neutral(0.044) superfamily_ARM repeat HECTD1 25831 genome.wustl.edu 37 14 31641303 31641303 + Silent SNP A A G novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_015382.2 -1 validated p.D394 1.000 135 0% 171 28.1% 3 66.6% - - - superfamily_Ankyrin repeat,superfamily_ARM repeat CFL2 1073 genome.wustl.edu 37 14 35182162 35182162 + Missense_Mutation SNP A A G novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_021914.7 -1 reviewed p.V137A 1.000 240 0% 227 26.9% 12 16.6% benign(0.004) tolerated(0.55) neutral(0.007) HMMPfam_Cofilin_ADF,HMMSmart_SM00102,superfamily_Actin depolymerizing proteins C14orf37 145407 genome.wustl.edu 37 14 58605636 58605636 + Silent SNP A A G novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001001872.2 -1 predicted p.I147 0.000 67 0% 61 29.5% 5 40% - - - NULL C14orf38 729665 genome.wustl.edu 37 14 60031979 60031979 + Missense_Mutation SNP T T C novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af ENST00000281581 -1 known p.E169G 0.001 342 0% 285 25.3% 0 - probably_damaging(0.978) tolerated(0.1) deleterious(0.707) NULL SIX6 4990 genome.wustl.edu 37 14 60976248 60976248 + Silent SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_007374.2 +1 reviewed p.C44 1.000 38 0% 24 33.3% 0 - - - - NULL HIF1A 3091 genome.wustl.edu 37 14 62200980 62200980 + Silent SNP T T C novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001530.3 +1 validated p.I335 1.000 165 0% 179 31.8% 57 29.8% - - - HMMSmart_SM00086,HMMPfam_PAS_3,superfamily_PYP-like sensor domain (PAS domain) ACTN1 87 genome.wustl.edu 37 14 69343805 69343805 + Silent SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001130004.1 -1 reviewed p.G860 0.998 100 0% 97 24.7% 366 20.2% - - - HMMPfam_efhand_Ca_insen,superfamily_SSF47473 PSEN1 5663 genome.wustl.edu 37 14 73673122 73673124 + In_Frame_Del DEL AGA AGA - novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 AGA AGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_000021.3 +1 reviewed p.E300in_frame_del 0.997:1.000:1.000 - - - - - - - - - HMMPfam_Presenilin,HMMSmart_SM00730 PAPLN 89932 genome.wustl.edu 37 14 73721613 73721613 + Missense_Mutation SNP G G A rs189127558 by1000genomes TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_173462.3 +1 validated p.R478Q 1.000 18 0% 19 36.8% 10 40% probably_damaging(0.983) tolerated(0.19) deleterious(0.478) HMMPfam_TSP_1,HMMSmart_TSP1,superfamily_TSP1 PNMA1 9240 genome.wustl.edu 37 14 74180095 74180095 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_006029.4 -1 validated p.G83D 1.000 148 0% 132 35.6% 26 30.7% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL C14orf43 91748 genome.wustl.edu 37 14 74193327 74193327 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001043318.1 -1 validated p.E797K 1.000 33 0% 57 31.6% 11 9% probably_damaging(0.999) tolerated(0.05) deleterious(0.836) NULL YLPM1 56252 genome.wustl.edu 37 14 75265530 75265530 + Missense_Mutation SNP G G T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_019589.2 +1 validated p.G1177V 1.000 82 0% 79 21.5% 12 25% probably_damaging(0.994) tolerated(0.06) deleterious(0.774) NULL DLST 1743 genome.wustl.edu 37 14 75355994 75355994 + Missense_Mutation SNP A A G novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af ENST00000334212 +1 known p.Q7R 0.992 284 0% 361 44.9% 50 44% unknown(0) deleterious(0) - NULL DLST 1743 genome.wustl.edu 37 14 75367835 75367835 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001933.4 +1 validated p.V376I 1.000 345 0% 327 39.1% 69 49.2% benign(0) tolerated(0.06) neutral(0.323) HMMPfam_2-oxoacid_dh,superfamily_CoA-dependent acyltransferases KIAA1737 85457 genome.wustl.edu 37 14 77576246 77576246 + Silent SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_033426.2 +1 validated p.R76 0.592 101 0% 91 27.5% 10 40% - - - NULL TDP1 55775 genome.wustl.edu 37 14 90499491 90499491 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af ENST00000393452 +1 known p.Q578* 0.000 113 0% 132 39.4% 23 52.1% - - - HMMPfam_Tyr-DNA_phospho SERPINA1 5265 genome.wustl.edu 37 14 94845890 94845890 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_000295.4 -1 reviewed p.V326I 0.000 116 0% 157 29.3% 249 51% benign(0.011) tolerated(0.97) neutral(0.001) HMMPfam_Serpin,HMMSmart_SM00093,superfamily_Serpins CDC42BPB 9578 genome.wustl.edu 37 14 103400152 103400152 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_006035.3 -1 reviewed p.T1678I 1.000 250 0% 202 31.7% 74 40.5% probably_damaging(0.998) tolerated(0.22) deleterious(0.516) NULL KIAA0284 283638 genome.wustl.edu 37 14 105350449 105350449 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001112726.1 +1 validated p.R445C 0.001 7 0.000 14 0.643 19 36.8% probably_damaging(0.989) tolerated(0.06) deleterious(0.762) NULL AHNAK2 113146 genome.wustl.edu 37 14 105417146 105417146 + Missense_Mutation SNP C C A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_138420.2 -1 validated p.A1548S 0.000 119 0% 88 39.8% 5 40% benign(0.104) tolerated(0.3) neutral(0.037) NULL RYR3 6263 genome.wustl.edu 37 15 33855089 33855089 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001036.3 +1 validated p.G342* 1.000 150 0% 179 21.8% 0 - - - - HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMSmart_SM00472 GOLGA8A 23015 genome.wustl.edu 37 15 34678914 34678914 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_181077.3 -1 reviewed p.A66V 0.998 710 0% 557 19.4% 5 20% benign(0.004) deleterious(0.05) neutral(0.345) NULL FAM98B 283742 genome.wustl.edu 37 15 38776807 38776809 + In_Frame_Del DEL GGT GGT - novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 GGT GGT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_173611.2 +1 validated p.G420in_frame_del 0.999:0.976:0.303 - - - - - - - - - NULL RASGRP1 10125 genome.wustl.edu 37 15 38786724 38786724 + Silent SNP A A G novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_005739.3 -1 reviewed p.L706 0.529 237 0% 176 36.4% 1 0% - - - NULL SPTBN5 51332 genome.wustl.edu 37 15 42167757 42167758 + Frame_Shift_Ins INS - - T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_016642.2 -1 validated p.G1360fs 0.003:0.001 - - - - - - - - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat TMEM87A 25963 genome.wustl.edu 37 15 42536312 42536312 + Silent SNP T T C novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_015497.3 -1 validated p.V186 0.997 245 0% 251 25.1% 28 46.4% - - - HMMPfam_Lung_7-TM_R PYGO1 26108 genome.wustl.edu 37 15 55838268 55838268 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_015617.1 -1 provisional p.R405C 1.000 75 0% 75 36% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL LOC100130107 100130107 genome.wustl.edu 37 15 60060923 60060923 + Silent SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af XM_001719310.2 -1 model p.N108 1.000 116 0% 121 10.7% 709 0% - - - NULL SPESP1 246777 genome.wustl.edu 37 15 69238475 69238475 + Missense_Mutation SNP A A G novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_145658.3 +1 reviewed p.Q201R 1.000 27 0% 33 30.3% 0 - possibly_damaging(0.915) deleterious(0) deleterious(0.811) NULL KIF23 9493 genome.wustl.edu 37 15 69739235 69739235 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_138555.1 +1 reviewed p.A941V 1.000 150 0% 156 25.6% 17 23.5% possibly_damaging(0.914) deleterious(0.02) deleterious(0.749) NULL ISLR2 57611 genome.wustl.edu 37 15 74427071 74427071 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001130136.1 +1 validated p.P659L 0.004 23 0% 18 27.8% 4 0% possibly_damaging(0.452) deleterious(0) deleterious(0.593) NULL SIN3A 25942 genome.wustl.edu 37 15 75703867 75703867 + Missense_Mutation SNP T T C novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001145357.1 -1 reviewed p.Y325C 1.000 177 0% 167 27.5% 12 41.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PAH,superfamily_PAH SIN3A 25942 genome.wustl.edu 37 15 75706567 75706569 + In_Frame_Del DEL ATG ATG - novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 ATG ATG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001145357.1 -1 reviewed p.I150in_frame_del 1.000:1.000:1.000 - - - - - - - - - HMMPfam_PAH,superfamily_PAH CHRNB4 1143 genome.wustl.edu 37 15 78921669 78921669 + Silent SNP G G T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_000750.3 -1 validated p.T326 0.011 93 0% 75 37.3% 0 - - - - HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM ADAMTS7 11173 genome.wustl.edu 37 15 79059935 79059935 + Splice_Site SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_014272.3 -1 reviewed e18-1 1.000 27 0% 24 54.2% 0 - - - - - WHAMM 123720 genome.wustl.edu 37 15 83502253 83502253 + Missense_Mutation SNP A A G novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001080435.1 +1 provisional p.S799G 0.000 51 0% 47 27.7% 17 41.1% benign(0.026) tolerated(0.57) neutral(0.007) NULL WDR93 56964 genome.wustl.edu 37 15 90272311 90272311 + Silent SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_020212.1 +1 provisional p.V370 0.061 345 0% 300 36.7% 0 - - - - NULL IQGAP1 8826 genome.wustl.edu 37 15 90999517 90999517 + Silent SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_003870.3 +1 reviewed p.T582 0.699 179 0% 173 35.3% 29 51.7% - - - NULL MAN2A2 4122 genome.wustl.edu 37 15 91455837 91455837 + Silent SNP C C A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_006122.2 +1 validated p.T804 0.936 109 0% 108 38% 21 23.8% - - - superfamily_Gal_mut_like,HMMPfam_Glyco_hydro_38C NPRL3 8131 genome.wustl.edu 37 16 148243 148243 + Missense_Mutation SNP G G T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af ENST00000399953 -1 known p.P275H 1.000 62 0% 47 10.6% 44 20.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_UPF0171 GNG13 51764 genome.wustl.edu 37 16 849069 849071 + In_Frame_Del DEL CTC CTC - novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_016541.2 -1 validated p.E3in_frame_del 1.000:1.000:1.000 - - - - - - - - - NULL NUBP2 10101 genome.wustl.edu 37 16 1836624 1836624 + Silent SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_012225.2 +1 validated p.L35 1.000 39 0% 31 32.3% 84 48.8% - - - superfamily_SSF52540 TSC2 7249 genome.wustl.edu 37 16 2134515 2134515 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_000548.3 +1 reviewed p.S1431L 0.015 21 0% 18 33.3% 71 45% benign(0) tolerated(0.23) neutral(0.042) NULL TFAP4 7023 genome.wustl.edu 37 16 4310142 4310142 + Silent SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_003223.2 -1 validated p.S257 0.007 205 0% 177 28.8% 18 66.6% - - - NULL TFAP4 7023 genome.wustl.edu 37 16 4322677 4322677 + Missense_Mutation SNP A A G novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_003223.2 -1 validated p.V24A 1.000 52 0% 53 30.2% 13 30.7% unknown(0) deleterious(0) - NULL GLIS2 84662 genome.wustl.edu 37 16 4384884 4384884 + Missense_Mutation SNP A A C novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_032575.2 +1 reviewed p.H143P 1.000 37 0% 45 11.1% 11 18.1% possibly_damaging(0.451) deleterious(0) deleterious(0.592) NULL SMG1 23049 genome.wustl.edu 37 16 18844455 18844456 + Frame_Shift_Ins INS - - A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_015092.4 -1 reviewed p.P2866fs 1.000:0.998 - - - - - - - - - NULL ITPRIPL2 162073 genome.wustl.edu 37 16 19126141 19126141 + Missense_Mutation SNP A A G novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001034841.3 +1 validated p.K120E 1.000 5 0.000 5 0.800 13 7.6% probably_damaging(0.995) tolerated(0.18) deleterious(0.514) NULL ACSM3 6296 genome.wustl.edu 37 16 20803429 20803431 + In_Frame_Del DEL GAT GAT - novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 GAT GAT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_005622.3 +1 validated p.D479in_frame_del 0.995:1.000:1.000 - - - - - - - - - HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like LOC81691 81691 genome.wustl.edu 37 16 20826286 20826286 + Missense_Mutation SNP G G C novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_030941.2 +1 validated p.V97L 0.934 187 0% 158 29.1% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL DCUN1D3 123879 genome.wustl.edu 37 16 20873776 20873776 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_173475.2 -1 validated p.H29Y 1.000 162 0% 150 35.3% 7 28.5% benign(0.314) deleterious(0) deleterious(0.542) NULL DNAH3 55567 genome.wustl.edu 37 16 21031069 21031069 + Missense_Mutation SNP T T C rs193244009 by1000genomes TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_017539.1 -1 provisional p.I1967V 1.000 303 0% 288 31.6% 0 - benign(0.001) tolerated(0.6) neutral(0.004) NULL DNAH3 55567 genome.wustl.edu 37 16 21065803 21065803 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_017539.1 -1 provisional p.R1326Q 1.000 71 0% 63 33.3% 0 - probably_damaging(0.998) deleterious(0.03) deleterious(0.839) NULL PALB2 79728 genome.wustl.edu 37 16 23646230 23646230 + Missense_Mutation SNP A A G novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_024675.3 -1 reviewed p.V546A 0.000 251 0% 265 29.8% 2 50% possibly_damaging(0.631) tolerated(0.14) deleterious(0.470) NULL ERN2 10595 genome.wustl.edu 37 16 23712362 23712365 + Frame_Shift_Del DEL AAGT AAGT - novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 AAGT AAGT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_033266.3 -1 validated p.Y473fs 0.000:0.000:0.000:0.000 - - - - - - - - - NULL SPNS1 83985 genome.wustl.edu 37 16 28993225 28993225 + Silent SNP T T C novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001142448.1 +1 validated p.P271 0.933 134 0% 137 33.6% 68 39.7% - - - HMMPfam_MFS_1,superfamily_MFS general substrate transporter ZNF48 197407 genome.wustl.edu 37 16 30409933 30409933 + Silent SNP T T C novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af ENST00000495929 +1 known p.*584R 0.872 15 0.000 9 0.444 11 45.4% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF768 79724 genome.wustl.edu 37 16 30536629 30536629 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_024671.3 -1 validated p.Q278* 0.976 94 0% 71 39.4% 81 58% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF785 146540 genome.wustl.edu 37 16 30594491 30594491 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_152458.5 -1 provisional p.G203D 0.609 60 0% 37 43.2% 11 45.4% benign(0) tolerated(0.85) neutral(0.001) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers SHCBP1 79801 genome.wustl.edu 37 16 46638006 46638006 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_024745.4 -1 validated p.R325C 0.110 55 0% 76 30.3% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL DNAJA2 10294 genome.wustl.edu 37 16 46993036 46993036 + Missense_Mutation SNP A A T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_005880.3 -1 reviewed p.V309D 1.000 107 0% 118 39% 75 54.6% benign(0.029) tolerated(0.05) neutral(0.347) HMMPfam_DnaJ_C,superfamily_HSP40/DnaJ peptide-binding domain ZNF423 23090 genome.wustl.edu 37 16 49671791 49671791 + Silent SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_015069.2 -1 reviewed p.V424 1.000 81 0% 84 29.8% 1 0% - - - HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2 ADCY7 113 genome.wustl.edu 37 16 50346020 50346020 + Missense_Mutation SNP T T C novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001114.3 +1 reviewed p.M841T 1.000 115 0% 84 28.6% 3 33.3% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMSmart_CYCc CSNK2A2 1459 genome.wustl.edu 37 16 58220657 58220657 + Splice_Site SNP A A G novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001896.2 -1 validated e3+2 1.000 250 0% 226 30.5% 0 - - - - - CDH5 1003 genome.wustl.edu 37 16 66420786 66420786 + Silent SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001795.3 +1 reviewed p.V95 0.075 74 0% 61 19.7% 19 5.2% possibly_damaging(0.837) deleterious(0.02) deleterious(0.703) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like CDH5 1003 genome.wustl.edu 37 16 66426269 66426269 + Silent SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001795.3 +1 reviewed p.A400 0.000 95 0% 69 31.9% 20 5% - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like CCDC79 283847 genome.wustl.edu 37 16 66830700 66830700 + Missense_Mutation SNP A A G novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001136505.1 -1 provisional p.M1T 0.979 705 0% 696 34.9% 0 - benign(0.067) deleterious(0) neutral(0.449) NULL CDH16 1014 genome.wustl.edu 37 16 66945909 66945909 + Silent SNP G G T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_004062.2 -1 reviewed p.P561 0.981 104 0% 90 27.8% 254 48.4% - - - HMMSmart_SM00112,superfamily_Cadherin-like CYB5B 80777 genome.wustl.edu 37 16 69458659 69458659 + Missense_Mutation SNP A A G novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_030579.2 +1 validated p.T25A 1.000 114 0% 93 33.3% 144 34.7% benign(0.253) deleterious(0.04) neutral(0.375) superfamily_Cytochrome b5-like heme/steroid binding domain ENSG00000226232 0 genome.wustl.edu 37 16 70010477 70010477 + Silent SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af ENST00000437824 -1 known p.P267 0.128 26 0% 24 33.3% 16 62.5% - - - HMMPfam_NPIP PDPR 55066 genome.wustl.edu 37 16 70154496 70154496 + Frame_Shift_Del DEL C C - novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_017990.3 +1 validated p.A34fs 0.007 - - - - - - - - - NULL DNAAF1 123872 genome.wustl.edu 37 16 84188269 84188269 + Missense_Mutation SNP T T C novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_178452.4 +1 reviewed p.L147P 1.000 127 0% 106 37.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00365,superfamily_Outer arm dynein light chain 1 KLHDC4 54758 genome.wustl.edu 37 16 87742953 87742953 + Silent SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_017566.3 -1 validated p.D455 1.000 17 0% 18 33.3% 34 35.2% - - - HMMPfam_Kelch_1 ZNF469 84627 genome.wustl.edu 37 16 88502342 88502342 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001127464.1 +1 reviewed p.P2794S 0.000 17 0% 24 45.8% 0 - possibly_damaging(0.771) tolerated(0.27) neutral(0.320) NULL GALNS 2588 genome.wustl.edu 37 16 88908305 88908305 + Missense_Mutation SNP C C A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_000512.4 -1 reviewed p.A107S 1.000 108 0% 90 38.9% 13 30.7% benign(0.198) tolerated(0.33) neutral(0.043) HMMPfam_Sulfatase,superfamily_Alkaline_phosphatase_core CHMP1A 5119 genome.wustl.edu 37 16 89712404 89712404 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001083314.1 -1 validated p.A214V 0.000 62 0% 49 28.6% 98 27.5% unknown(0) - - NULL KIAA0664 23277 genome.wustl.edu 37 17 2604453 2604453 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_015229.3 -1 validated p.A298T 0.984 70 0% 68 13.2% 25 12% benign(0.001) tolerated(0.7) neutral(0.002) superfamily_SSF103107 ARRB2 409 genome.wustl.edu 37 17 4621978 4621981 + Frame_Shift_Del DEL GAGT GAGT - novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 GAGT GAGT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_004313.3 +1 reviewed p.D260fs 1.000:1.000 - - - - - - - - - HMMPfam_Arrestin_C,superfamily_E set domains MINK1 50488 genome.wustl.edu 37 17 4790976 4790976 + Missense_Mutation SNP A A T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_153827.4 +1 reviewed p.Q374L 1.000 23 0% 17 35.3% 11 18.1% possibly_damaging(0.94) tolerated(0.55) neutral(0.392) NULL ARHGAP44 9912 genome.wustl.edu 37 17 12887912 12887912 + Missense_Mutation SNP C C A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_014859.4 +1 validated p.D668E 1.000 55 0% 40 42.5% 2 0% benign(0.001) tolerated(0.08) neutral(0.300) NULL ENSG00000249596 0 genome.wustl.edu 37 17 18027769 18027769 + RNA SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af ENST00000503497 -1 novel NULL 0.003 64 0% 56 26.8% 0 - - - - - ALKBH5 54890 genome.wustl.edu 37 17 18111597 18111597 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_017758.3 +1 validated p.R358W 1.000 27 0% 19 42.1% 61 29.5% probably_damaging(1) deleterious(0) deleterious(0.945) NULL EPN2 22905 genome.wustl.edu 37 17 19186656 19186656 + Missense_Mutation SNP A A G novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_014964.4 +1 reviewed p.Y75C 1.000 85 0% 73 41.1% 16 25% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ENTH,superfamily_ENTH/VHS domain,HMMSmart_SM00273 MAPK7 5598 genome.wustl.edu 37 17 19285160 19285160 + Missense_Mutation SNP G G T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_002749.3 +1 reviewed p.R515L 1.000 27 0% 32 53.1% 11 45.4% unknown(0) deleterious(0) - NULL ALDH3A1 218 genome.wustl.edu 37 17 19643674 19643674 + Silent SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_000691.4 -1 reviewed p.T308 0.004 45 0% 30 23.3% 6 33.3% - - - HMMPfam_Aldedh,superfamily_ALDH-like SPECC1 92521 genome.wustl.edu 37 17 20107710 20107711 + Frame_Shift_Ins INS - - AG novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001033553.1 +1 validated p.S119fs 0.945:0.988 - - - - - - - - - NULL RNF135 84282 genome.wustl.edu 37 17 29315015 29315015 + Silent SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_032322.3 +1 reviewed p.S190 0.000 172 0% 220 29.5% 10 20% - - - NULL FNDC8 54752 genome.wustl.edu 37 17 33454269 33454274 + In_Frame_Del DEL TGCCCA TGCCCA - novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 TGCCCA TGCCCA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_017559.2 +1 validated p.CP142in_frame_del 0.000:0.000:0.000:0.000:0.001:0.002 - - - - - - - - - NULL ACACA 31 genome.wustl.edu 37 17 35583305 35583305 + Missense_Mutation SNP T T A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_198834.1 -1 reviewed p.Q1105H 1.000 238 0% 257 35.8% 1 100% benign(0.01) deleterious(0.01) neutral(0.406) HMMPfam_ACC_central C17orf98 388381 genome.wustl.edu 37 17 36997562 36997562 + Silent SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001080465.2 -1 validated p.R27 0.005 29 0% 21 42.9% 0 - - - - NULL ENSG00000251119 0 genome.wustl.edu 37 17 42266286 42266289 + RNA DEL TTTT TTTT - novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 TTTT TTTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af ENST00000509949 -1 novel NULL 0.519:0.581:0.663:0.658 - - - - - - - - - - TMUB2 79089 genome.wustl.edu 37 17 42267965 42267965 + Silent SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001076674.1 +1 validated p.T233 0.017 86 0% 65 38.5% 52 38.4% - - - HMMPfam_ubiquitin,HMMSmart_SM00213,superfamily_Ubiquitin-like SLC25A39 51629 genome.wustl.edu 37 17 42397455 42397455 + Missense_Mutation SNP G G T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001143780.1 -1 validated p.P332T 1.000 82 1.2% 61 36.1% 542 47.2% probably_damaging(0.995) deleterious(0) deleterious(0.902) superfamily_Mitoch_carrier,HMMPfam_Mito_carr GPATCH8 23131 genome.wustl.edu 37 17 42477932 42477932 + Missense_Mutation SNP T T C novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001002909.1 -1 validated p.T505A 0.000 160 0% 167 34.1% 8 37.5% unknown(0) tolerated(0.59) - NULL PLCD3 113026 genome.wustl.edu 37 17 43190533 43190533 + Silent SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_133373.3 -1 reviewed p.P696L 0.000 32 0% 38 26.3% 5 20% - - - NULL TEX34 124783 genome.wustl.edu 37 17 43332555 43332555 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_152343.2 -1 validated p.A332T 0.219 133 0% 119 31.9% 4 0% possibly_damaging(0.507) deleterious(0) deleterious(0.614) NULL PLEKHM1 9842 genome.wustl.edu 37 17 43531402 43531402 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_014798.2 -1 reviewed p.R606C 1.000 20 0% 20 30% 10 10% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 KANSL1 284058 genome.wustl.edu 37 17 44109451 44109451 + Missense_Mutation SNP T T C novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_015443.2 -1 validated p.T1018A 1.000 72 0% 58 36.2% 26 11.5% possibly_damaging(0.95) tolerated(0.06) deleterious(0.716) NULL KANSL1 284058 genome.wustl.edu 37 17 44111620 44111621 + Frame_Shift_Del DEL CT CT - novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_015443.2 -1 validated p.S858fs 1.000:1.000 - - - - - - - - - NULL ITGB3 3690 genome.wustl.edu 37 17 45351855 45351855 + Silent SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_000212.2 +1 reviewed p.A50 1.000 78 0% 57 21.1% 1 0% - - - HMMPfam_Integrin_beta,HMMSmart_SM00187,HMMSmart_SM00423 HOXB3 3213 genome.wustl.edu 37 17 46627789 46627789 + Silent SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_002146.4 -1 reviewed p.C401 1.000 309 0% 271 34.7% 50 36% - - - NULL HOXB13 10481 genome.wustl.edu 37 17 46805363 46805363 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_006361.5 -1 reviewed p.A198V 0.813 67 0% 65 26.2% 7 0% probably_damaging(0.989) tolerated(0.1) deleterious(0.726) NULL TTLL6 284076 genome.wustl.edu 37 17 46865187 46865187 + Silent SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001130918.1 -1 validated p.R525 1.000 153 0% 105 33.3% 0 - - - - NULL RSAD1 55316 genome.wustl.edu 37 17 48559551 48559551 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_018346.1 +1 provisional p.V192M 0.733 23 0% 20 25% 7 14.2% probably_damaging(0.957) tolerated(0.15) deleterious(0.641) HMMSmart_Elp3,HMMPfam_Radical_SAM,superfamily_SSF102114 KIF2B 84643 genome.wustl.edu 37 17 51901582 51901582 + Silent SNP T T C novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_032559.4 +1 validated p.C396 0.999 153 0% 129 31% 0 - - - - HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases BZRAP1 9256 genome.wustl.edu 37 17 56404079 56404079 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_004758.2 -1 validated p.R136C 1.000 56 0% 36 36.1% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL PPM1D 8493 genome.wustl.edu 37 17 58677789 58677789 + Missense_Mutation SNP A A G novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_003620.2 +1 reviewed p.Y5C 1.000 8 0.000 14 0.571 4 50% probably_damaging(0.989) deleterious(0) deleterious(0.884) HMMSmart_SM00332,superfamily_Protein serine/threonine phosphatase 2C catalytic domain TANC2 26115 genome.wustl.edu 37 17 61498145 61498145 + Missense_Mutation SNP A A G novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_025185.3 +1 validated p.Q1601R 0.977 21 0% 22 27.3% 1 0% possibly_damaging(0.891) deleterious(0) deleterious(0.795) NULL MAP3K3 4215 genome.wustl.edu 37 17 61768517 61768517 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_203351.1 +1 reviewed p.R454H 1.000 79 0% 66 34.8% 12 50% probably_damaging(1) tolerated(0.12) deleterious(0.760) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase ABCA8 10351 genome.wustl.edu 37 17 66865893 66865893 + Silent SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_007168.2 -1 reviewed p.L1513 0.999 141 0% 141 31.2% 3 0% - - - NULL GGA3 23163 genome.wustl.edu 37 17 73238523 73238523 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_138619.2 -1 reviewed p.R214H 1.000 241 0% 231 36.8% 13 30.7% probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMPfam_GAT,superfamily_GAT-like domain UNK 85451 genome.wustl.edu 37 17 73814820 73814820 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001080419.1 +1 provisional p.G566D 1.000 113 0% 54 16.7% 13 15.3% possibly_damaging(0.856) tolerated(0.14) deleterious(0.580) NULL MGAT5B 146664 genome.wustl.edu 37 17 74944050 74944050 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_198955.1 +1 validated p.A697T 0.981 23 0% 13 53.8% 0 - benign(0.132) deleterious(0.05) neutral(0.356) NULL ENSG00000204283 0 genome.wustl.edu 37 17 75878385 75878385 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af ENST00000374983 -1 known p.A30T 0.000 454 0% 365 35.1% 0 - possibly_damaging(0.753) - - NULL LGALS3BP 3959 genome.wustl.edu 37 17 76972104 76972104 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_005567.3 -1 reviewed p.R63W 1.000 13 0% 17 41.2% 786 39% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SRCR,PatternScan_SRCR_1,HMMSmart_SR,superfamily_Srcr_receptor FOXK2 3607 genome.wustl.edu 37 17 80529734 80529734 + Silent SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_004514.3 +1 reviewed p.D299 1.000 77 0% 95 25.3% 25 44% - - - "HMMPfam_Fork_head,HMMSmart_SM00339,superfamily_""Winged helix"" DNA-binding domain" THOC1 9984 genome.wustl.edu 37 18 216486 216486 + Silent SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_005131.2 -1 validated p.P534 1.000 330 0% 278 40.3% 15 46.6% - - - NULL ZFP161 7541 genome.wustl.edu 37 18 5291241 5291241 + Silent SNP T T C novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001143823.1 -1 validated p.E322 1.000 491 0% 340 25.3% 9 44.4% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 CEP192 55125 genome.wustl.edu 37 18 13095639 13095639 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_032142.3 +1 validated p.T1535I 0.986 81 0% 83 10.8% 5 20% probably_damaging(0.968) deleterious(0.02) deleterious(0.793) NULL DSG2 1829 genome.wustl.edu 37 18 29125921 29125921 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001943.3 +1 reviewed p.A858T 0.000 42 0% 57 28.1% 32 50% benign(0.024) tolerated(0.57) neutral(0.007) NULL DCC 1630 genome.wustl.edu 37 18 50705392 50705392 + Missense_Mutation SNP G G T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_005215.3 +1 reviewed p.K493N 0.997 125 0% 148 19.6% 0 - benign(0.049) tolerated(0.14) neutral(0.253) HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III CDH7 1005 genome.wustl.edu 37 18 63526277 63526277 + Missense_Mutation SNP G G T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_004361.2 +1 reviewed p.G497W 1.000 79 0% 113 32.7% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Cadherin,superfamily_Cadherin-like DSEL 92126 genome.wustl.edu 37 18 65180862 65180862 + Silent SNP A A G novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_032160.2 -1 validated p.G338 0.992 130 0% 133 29.3% 0 - - - - NULL ZNF407 55628 genome.wustl.edu 37 18 72346148 72346148 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_017757.2 +1 reviewed p.R1058H 0.994 49 0% 62 32.3% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00451,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF407 55628 genome.wustl.edu 37 18 72347655 72347655 + Silent SNP T T G novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_017757.2 +1 reviewed p.T1560 0.998 57 0% 60 38.3% 2 0% - - - HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers SALL3 27164 genome.wustl.edu 37 18 76757066 76757066 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_171999.2 +1 validated p.A1216V 1.000 55 0% 44 25% 0 - possibly_damaging(0.753) tolerated(0.07) deleterious(0.596) NULL RANBP3 8498 genome.wustl.edu 37 19 5932507 5932507 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_007322.2 -1 reviewed p.P174L 1.000 58 0% 35 34.3% 41 21.9% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CLEC4M 10332 genome.wustl.edu 37 19 7831500 7831500 + RNA SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NR_026707.1 +1 reviewed NULL 0.001 60 0% 60 28.3% 0 - - - - - MUC16 94025 genome.wustl.edu 37 19 8996408 8996408 + Missense_Mutation SNP G G C novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_024690.2 -1 validated p.Q13722E 0.007 179 0% 168 33.9% 15 46.6% benign(0.055) tolerated(0.42) neutral(0.018) HMMPfam_SEA,superfamily_SEA domain C19orf38 255809 genome.wustl.edu 37 19 10979939 10979939 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001136482.1 +1 provisional p.G197S 0.000 92 0% 74 29.7% 1 0% possibly_damaging(0.816) deleterious(0) deleterious(0.753) NULL ENSG00000233422 0 genome.wustl.edu 37 19 14857188 14857190 + RNA DEL TTT TTT - novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 TTT TTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af ENST00000430444 +1 known NULL 0.001:0.000:0.000 - - - - - - - - - - CYP4F22 126410 genome.wustl.edu 37 19 15648370 15648370 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_173483.3 +1 reviewed p.G149D 0.968 92 0% 66 25.8% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_p450,superfamily_Cytochrome_P450 CIB3 117286 genome.wustl.edu 37 19 16279082 16279082 + Missense_Mutation SNP C C T rs186929589 by1000genomes TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_054113.2 -1 reviewed p.R71H 1.000 56 0% 52 26.9% 0 - probably_damaging(0.993) deleterious(0.03) deleterious(0.815) superfamily_EF-hand TMEM38A 79041 genome.wustl.edu 37 19 16791318 16791318 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_024074.1 +1 provisional p.A131V 1.000 110 0% 110 28.2% 4 50% probably_damaging(0.998) tolerated(0.8) deleterious(0.475) HMMPfam_DUF714 NWD1 284434 genome.wustl.edu 37 19 16925956 16925956 + Frame_Shift_Del DEL T T - novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001007525.2 +1 validated p.S1370fs 0.991 - - - - - - - - - NULL SLC27A1 376497 genome.wustl.edu 37 19 17597549 17597549 + Silent SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_198580.1 +1 provisional p.A115 0.061 10 0.000 7 0.571 25 28% - - - HMMPfam_AMP-binding,superfamily_SSF56801 MAST3 23031 genome.wustl.edu 37 19 18254744 18254744 + Silent SNP C C T rs55972498 TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_015016.1 +1 validated p.P808 0.008 35 0% 32 12.5% 2 50% - - - NULL COMP 1311 genome.wustl.edu 37 19 18901670 18901670 + Silent SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_000095.2 -1 reviewed p.L52 0.983 4 0.000 5 0.800 1 0% - - - NULL ATP13A1 57130 genome.wustl.edu 37 19 19772892 19772892 + Missense_Mutation SNP G G T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af ENST00000291503 -1 known p.P12T 0.000 59 0% 53 32.1% 0 - benign(0) tolerated(0.06) neutral(0.323) NULL ZNF91 7644 genome.wustl.edu 37 19 23544427 23544427 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_003430.2 -1 validated p.H452Y 0.427 110 0% 100 27% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers RHPN2 85415 genome.wustl.edu 37 19 33502617 33502617 + Silent SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_033103.4 -1 reviewed p.P187 0.112 34 0% 37 29.7% 39 43.5% - - - HMMPfam_BRO1 FFAR2 2867 genome.wustl.edu 37 19 35941257 35941257 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_005306.2 +1 reviewed p.A214V 0.998 42 0% 24 29.2% 1 0% benign(0) tolerated(0.08) neutral(0.300) HMMPfam_7tm_1,superfamily_SSF81321 C19orf55 148137 genome.wustl.edu 37 19 36258849 36258849 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001039887.1 +1 predicted p.P368S 0.001 14 0% 20 55% 9 44.4% probably_damaging(0.988) deleterious(0) deleterious(0.882) NULL CLIP3 25999 genome.wustl.edu 37 19 36518084 36518084 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_015526.1 -1 provisional p.R86C 1.000 191 0% 171 31.6% 20 5% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Ankyrin repeat ZNF260 339324 genome.wustl.edu 37 19 37005715 37005715 + Silent SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001012756.2 -1 validated p.G142 0.930 222 0% 228 30.3% 5 40% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 PAF1 54623 genome.wustl.edu 37 19 39879621 39879621 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_019088.2 -1 provisional p.P201L 0.999 177 0% 221 33.9% 69 47.8% probably_damaging(0.965) deleterious(0) deleterious(0.851) HMMPfam_Paf1 MAP3K10 4294 genome.wustl.edu 37 19 40698268 40698268 + Silent SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_002446.3 +1 reviewed p.G110 1.000 54 0% 44 36.4% 4 50% - - - superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase PRX 57716 genome.wustl.edu 37 19 40901829 40901829 + Silent SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_181882.2 -1 reviewed p.G810 0.987 58 0% 62 46.8% 1 0% - - - NULL CYP2A13 1553 genome.wustl.edu 37 19 41594886 41594886 + Missense_Mutation SNP T T A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_000766.3 +1 reviewed p.V78D 0.006 123 0% 112 10.7% 0 - possibly_damaging(0.732) deleterious(0) deleterious(0.712) HMMPfam_p450,superfamily_Cytochrome_P450 SRRM5 100170229 genome.wustl.edu 37 19 44116588 44116588 + Silent SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001145641.1 +1 validated p.K105 0.999 72 0% 61 44.3% 0 - - - - NULL FBXO46 23403 genome.wustl.edu 37 19 46215898 46215898 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001080469.1 -1 provisional p.P286S 0.994 21 0% 11 45.5% 15 46.6% benign(0.05) tolerated(0.39) neutral(0.019) NULL NOVA2 4858 genome.wustl.edu 37 19 46457055 46457055 + Missense_Mutation SNP G G T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_002516.2 -1 validated p.P127T 1.000 443 0% 337 32% 5 0% unknown(0) tolerated(0.19) - superfamily_SSF54791 LOC100287311 100287311 genome.wustl.edu 37 19 47813096 47813096 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af XM_002343688.1 -1 model p.W183* 0.359 74 0% 86 30.2% 0 - - - - NULL ZNF114 163071 genome.wustl.edu 37 19 48785666 48785666 + Silent SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_153608.1 +1 provisional p.T16 0.546 111 0% 123 32.5% 1 100% - - - HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) PLEKHA4 57664 genome.wustl.edu 37 19 49364901 49364901 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_020904.2 -1 validated p.G81S 0.989 54 0% 24 33.3% 14 28.5% possibly_damaging(0.915) deleterious(0.03) deleterious(0.731) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like RCN3 57333 genome.wustl.edu 37 19 50045997 50045997 + Silent SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_020650.2 +1 provisional p.S289 1.000 36 0% 30 33.3% 68 2.9% - - - HMMSmart_EFh,superfamily_SSF47473 NOSIP 51070 genome.wustl.edu 37 19 50060427 50060427 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_015953.3 -1 provisional p.G113D 0.998 40 0% 25 28% 132 40.9% benign(0.002) tolerated(0.37) neutral(0.019) superfamily_SSF57850 PRR12 57479 genome.wustl.edu 37 19 50098211 50098211 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_020719.1 +1 validated p.R207C 1.000 20 0% 23 30.4% 9 55.5% unknown(0) - - NULL IL4I1 259307 genome.wustl.edu 37 19 50399261 50399261 + Silent SNP G G T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_172374.1 -1 reviewed p.S43 0.000 86 0% 83 33.7% 41 31.7% - - - NULL ZNF473 25888 genome.wustl.edu 37 19 50549146 50549146 + Silent SNP C C A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001006656.1 +1 validated p.T482 0.000 70 0% 89 30.3% 3 66.6% - - - superfamily_C2H2 and C2HC zinc fingers SIGLEC10 89790 genome.wustl.edu 37 19 51919250 51919250 + Missense_Mutation SNP T T C novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_033130.4 -1 validated p.E309G 0.985 46 0% 29 34.5% 2 0% possibly_damaging(0.758) deleterious(0.03) deleterious(0.645) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin SIGLEC6 946 genome.wustl.edu 37 19 52034865 52034865 + Missense_Mutation SNP A A T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001245.5 -1 validated p.L13Q 0.008 48 0% 62 30.6% 0 - possibly_damaging(0.9) deleterious(0.01) deleterious(0.762) NULL ENSG00000245932 0 genome.wustl.edu 37 19 53302764 53302764 + RNA SNP A A G novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af ENST00000500436 +1 known NULL 0.000 132 0% 180 38.3% 7 42.8% - - - - LENG1 79165 genome.wustl.edu 37 19 54660603 54660603 + Missense_Mutation SNP C C A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_024316.1 -1 provisional p.R158L 0.039 129 0% 104 26% 12 16.6% benign(0.012) tolerated(0.19) neutral(0.050) NULL PTPRH 5794 genome.wustl.edu 37 19 55702904 55702906 + In_Frame_Del DEL CTT CTT - novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_002842.3 -1 validated p.K783in_frame_del 0.000:0.002:0.029 - - - - - - - - - NULL PPP6R1 22870 genome.wustl.edu 37 19 55756697 55756697 + Missense_Mutation SNP A A G novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_014931.3 -1 validated p.M163T 1.000 53 0% 46 10.9% 53 7.5% benign(0.036) tolerated(0.07) neutral(0.321) HMMPfam_SAPS ZNF587 84914 genome.wustl.edu 37 19 58371232 58371232 + Silent SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af ENST00000339656 +1 known p.R484 0.002 174 0% 204 26% 4 50% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZSCAN18 65982 genome.wustl.edu 37 19 58619358 58619358 + RNA SNP A A G novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NR_027135.1 -1 validated NULL 0.334 33 0% 31 29% 0 - - - - - ZNF446 55663 genome.wustl.edu 37 19 58991009 58991009 + Splice_Site SNP G G T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_017908.2 +1 provisional e4-1 1.000 67 0% 76 26.3% 0 - - - - - TGM6 343641 genome.wustl.edu 37 20 2380984 2380984 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_198994.2 +1 validated p.V295M 0.940 69 0% 79 20.3% 0 - possibly_damaging(0.883) deleterious(0) deleterious(0.789) HMMPfam_Transglut_core,HMMSmart_SM00460,superfamily_Cysteine proteinases UBOX5 22888 genome.wustl.edu 37 20 3102487 3102487 + Silent SNP G G T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_014948.2 -1 validated p.P266 0.981 20 0% 24 41.7% 11 45.4% - - - HMMPfam_U-box,HMMSmart_SM00504,superfamily_RING/U-box SMOX 54498 genome.wustl.edu 37 20 4163401 4163401 + Silent SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_175839.1 +1 reviewed p.S425 0.475 56 0% 45 35.6% 58 36.2% - - - HMMPfam_Amino_oxidase,superfamily_FAD/NAD(P)-binding domain,superfamily_FAD-linked reductases C-terminal domain ID1 3397 genome.wustl.edu 37 20 30193503 30193503 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_002165.2 +1 reviewed p.L105F 1.000 33 0% 36 33.3% 317 37.8% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_HLH,HMMSmart_SM00353,superfamily_HLH helix-loop-helix DNA-binding domain MYLK2 85366 genome.wustl.edu 37 20 30408197 30408197 + Silent SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_033118.3 +1 reviewed p.S107 0.000 19 0% 11 45.5% 0 - - - - NULL C20orf152 140894 genome.wustl.edu 37 20 34571911 34571911 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_080834.1 +1 predicted p.R139C 1.000 193 0% 231 34.2% 0 - probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_cNMP_binding,HMMSmart_cNMP,superfamily_cNMP_binding CHD6 84181 genome.wustl.edu 37 20 40162126 40162126 + Silent SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_032221.3 -1 reviewed p.D39 0.727 62 0% 55 40% 3 66.6% - - - NULL SGK2 10110 genome.wustl.edu 37 20 42200717 42200717 + Silent SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_016276.3 +1 reviewed p.G239 0.998 108 0% 92 39.1% 8 87.5% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase MATN4 8785 genome.wustl.edu 37 20 43934198 43934198 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_003833.3 -1 reviewed p.V9M 0.000 90 0% 88 15.9% 0 - unknown(0) deleterious(0.02) - NULL ZMYND8 23613 genome.wustl.edu 37 20 45850047 45850047 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_183047.1 -1 reviewed p.S1066N 0.021 196 0% 176 21.6% 14 28.5% benign(0) tolerated(0.66) neutral(0.003) NULL ZMYND8 23613 genome.wustl.edu 37 20 45865068 45865068 + Splice_Site SNP A A G novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_183047.1 -1 reviewed e16+2 1.000 109 0% 99 33.3% 4 100% - - - - NFATC2 4773 genome.wustl.edu 37 20 50090623 50090623 + Silent SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_173091.2 -1 reviewed p.D534 1.000 138 0% 121 36.4% 2 0% - - - superfamily_p53-like transcription factors,HMMPfam_RHD COL9A3 1299 genome.wustl.edu 37 20 61463533 61463533 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001853.3 +1 reviewed p.G439R 1.000 58 0% 46 28.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Collagen COL20A1 57642 genome.wustl.edu 37 20 61944499 61944499 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_020882.2 +1 validated p.V703I 0.289 26 0% 26 53.8% 0 - benign(0) tolerated(0.61) neutral(0.004) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III PRIC285 85441 genome.wustl.edu 37 20 62195532 62195532 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001037335.2 -1 reviewed p.T1548M 0.000 9 0.000 9 0.667 17 52.9% probably_damaging(0.995) deleterious(0.04) deleterious(0.806) HMMPfam_RNB JAM2 58494 genome.wustl.edu 37 21 27012198 27012198 + Missense_Mutation SNP G G C novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_021219.2 +1 reviewed p.G22A 1.000 56 0% 45 44.4% 2 0% benign(0.011) tolerated(1) neutral(0.001) NULL JAM2 58494 genome.wustl.edu 37 21 27074531 27074531 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_021219.2 +1 reviewed p.A216V 1.000 174 0% 155 27.1% 6 0% probably_damaging(0.972) deleterious(0) deleterious(0.859) HMMSmart_IGc2,HMMPfam_ig,superfamily_SSF48726 DYRK1A 1859 genome.wustl.edu 37 21 38877606 38877606 + Silent SNP C C A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001396.3 +1 reviewed p.T420 1.000 112 0% 122 33.6% 10 70% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase RIPK4 54101 genome.wustl.edu 37 21 43161861 43161861 + Missense_Mutation SNP T T C novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_020639.2 -1 reviewed p.N498D 1.000 66 0% 33 39.4% 45 55.5% possibly_damaging(0.931) tolerated(0.14) deleterious(0.627) HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK PRDM15 63977 genome.wustl.edu 37 21 43281687 43281687 + Silent SNP G G A rs185333589 by1000genomes TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_022115.3 -1 validated p.C292 0.179 110 0% 89 41.6% 0 - - - - NULL ZNF295 49854 genome.wustl.edu 37 21 43412316 43412317 + Frame_Shift_Del DEL TC TC - novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 TC TC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001098402.1 -1 validated p.E630fs 1.000:1.000 - - - - - - - - - NULL KRTAP10-1 386677 genome.wustl.edu 37 21 45959615 45959615 + Missense_Mutation SNP G G T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_198691.2 -1 reviewed p.S140Y 0.618 163 0% 166 41% 0 - unknown(0) - - NULL PCBP3 54039 genome.wustl.edu 37 21 47360108 47360108 + Silent SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_020528.2 +1 reviewed p.N358 0.996 61 0% 46 28.3% 2 0% - - - HMMSmart_SM00322,superfamily_Eukaryotic type KH-domain (KH-domain type I) COL6A2 1292 genome.wustl.edu 37 21 47541469 47541469 + Splice_Site SNP G G T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001849.3 +1 reviewed e17-1 1.000 45 0% 38 13.2% 1 0% - - - - C21orf56 84221 genome.wustl.edu 37 21 47581412 47581412 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001142854.1 -1 validated p.A302T 0.850 19 0% 20 20% 31 25.8% possibly_damaging(0.711) tolerated(0.65) neutral(0.260) NULL PCNT 5116 genome.wustl.edu 37 21 47852020 47852020 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_006031.5 +1 reviewed p.R2881Q 0.000 44 0% 49 46.9% 6 16.6% benign(0.025) tolerated(0.52) neutral(0.010) NULL DGCR2 9993 genome.wustl.edu 37 22 19055721 19055721 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_005137.2 -1 reviewed p.R74C 0.958 26 0% 24 29.2% 81 39.5% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_LDL_rcpt_classA_cys-rich MED15 51586 genome.wustl.edu 37 22 20938680 20938680 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001003891.1 +1 reviewed p.A591T 0.999 144 0% 136 36% 80 40% possibly_damaging(0.951) tolerated(0.15) deleterious(0.635) NULL LZTR1 8216 genome.wustl.edu 37 22 21350272 21350272 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_006767.3 +1 reviewed p.R697Q 1.000 41 0% 31 35.5% 19 31.5% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB TOP3B 8940 genome.wustl.edu 37 22 22314082 22314082 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_003935.3 -1 reviewed p.R561C 1.000 28 0% 25 36% 19 15.7% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Prokaryotic type I DNA topoisomerase,HMMPfam_Topoisom_bac MMP11 4320 genome.wustl.edu 37 22 24124435 24124435 + Silent SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_005940.3 +1 reviewed p.D366 0.057 17 0% 16 43.8% 303 0.9% - - - superfamily_Hemopexin-like domain,HMMPfam_Hemopexin,HMMSmart_SM00120 SLC2A11 66035 genome.wustl.edu 37 22 24217369 24217369 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_030807.3 +1 validated p.R123H 0.137 116 0% 95 14.7% 6 16.6% probably_damaging(1) tolerated(0.08) deleterious(0.800) HMMPfam_Sugar_tr,superfamily_MFS general substrate transporter TTC28 23331 genome.wustl.edu 37 22 28503919 28503919 + Silent SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001145418.1 -1 validated p.H638 1.000 81 0% 79 30.4% 4 0% - - - HMMPfam_TPR_2,HMMSmart_TPR,superfamily_SSF48452 RHBDD3 25807 genome.wustl.edu 37 22 29656321 29656323 + In_Frame_Del DEL GAG GAG - novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 GAG GAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_012265.1 -1 provisional p.S326in_frame_del 1.000:1.000:0.991 - - - - - - - - - HMMPfam_UBA FBXO7 25793 genome.wustl.edu 37 22 32894389 32894389 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_012179.3 +1 reviewed p.R481C 0.872 55 0% 72 34.7% 157 40.1% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL RASD2 23551 genome.wustl.edu 37 22 35947610 35947610 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_014310.3 +1 reviewed p.R111H 1.000 82 0% 75 33.3% 1 0% probably_damaging(0.991) deleterious(0.01) deleterious(0.850) HMMSmart_RAS,HMMPfam_Ras,superfamily_SSF52540 CACNA1I 8911 genome.wustl.edu 37 22 40080413 40080413 + Silent SNP C C A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_021096.3 +1 reviewed p.G1979 0.000 101 0% 81 39.5% 0 - - - - NULL TNRC6B 23112 genome.wustl.edu 37 22 40666204 40666204 + Missense_Mutation SNP G G T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001024843.1 +1 validated p.W215L 1.000 85 0% 80 31.2% 2 100% probably_damaging(0.999) tolerated(0.06) deleterious(0.813) HMMPfam_Ago_hook MKL1 57591 genome.wustl.edu 37 22 40816999 40816999 + Frame_Shift_Del DEL C C - novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_020831.3 -1 validated p.D245fs 1.000 - - - - - - - - - NULL ACO2 50 genome.wustl.edu 37 22 41924513 41924513 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001098.2 +1 reviewed p.G747R 1.000 304 0% 289 38.8% 435 45.7% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Aconitase/3IPM_dehydase_swvl TSPO 706 genome.wustl.edu 37 22 43558947 43558947 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_000714.4 +1 reviewed p.V154I 0.037 17 0% 20 40% 1035 37.4% benign(0.001) tolerated(1) - HMMPfam_TspO_MBR CELSR1 9620 genome.wustl.edu 37 22 46805016 46805016 + Silent SNP G G T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_014246.1 -1 reviewed p.S1701 0.999 29 0% 44 18.2% 31 25.8% - - - superfamily_Concanavalin A-like lectins/glucanases MAPK12 6300 genome.wustl.edu 37 22 50693654 50693654 + Silent SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_002969.3 -1 reviewed p.D332 0.889 113 0% 98 32.7% 25 24% - - - superfamily_Kinase_like SBF1 6305 genome.wustl.edu 37 22 50903280 50903280 + Missense_Mutation SNP C C T rs192339446 by1000genomes TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_002972.2 -1 validated p.V467I 1.000 24 0% 30 40% 10 10% benign(0.002) tolerated(1) - NULL CPT1B 1375 genome.wustl.edu 37 22 51011469 51011469 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001145135.1 -1 reviewed p.R396H 1.000 42 0% 21 42.9% 14 64.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Carn_acyltransf,superfamily_CoA-dependent acyltransferases PPP2R3B 28227 genome.wustl.edu 37 X 322318 322318 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_013239.4 -1 reviewed p.T111I 0.994 171 0% 164 33.5% 6 0% possibly_damaging(0.697) tolerated(0.26) neutral(0.284) NULL IL3RA 3563 genome.wustl.edu 37 X 1471336 1471336 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_002183.2 +1 reviewed p.R185W 0.000 306 0% 281 38.8% 26 15.3% probably_damaging(0.998) deleterious(0.03) deleterious(0.839) superfamily_FN_III-like ASMT 438 genome.wustl.edu 37 X 1743171 1743171 + Missense_Mutation SNP G G T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_004043.2 +1 reviewed p.R85L 0.801 80 0% 42 9.5% 0 - benign(0.089) tolerated(0.09) neutral(0.303) HMMPfam_Methyltransf_2,superfamily_SSF46785 ARSH 347527 genome.wustl.edu 37 X 2947308 2947308 + Missense_Mutation SNP T T C novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001011719.1 +1 validated p.L407P 0.960 223 0% 172 34.3% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Sulfatase,superfamily_Alkaline_phosphatase_core SHROOM2 357 genome.wustl.edu 37 X 9841713 9841713 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001649.2 +1 reviewed p.A63T 0.912 147 0% 146 33.6% 1 0% probably_damaging(0.999) tolerated(0.15) deleterious(0.732) HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like NHS 4810 genome.wustl.edu 37 X 17745131 17745131 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_198270.2 +1 reviewed p.A948T 1.000 132 0% 119 34.5% 2 0% probably_damaging(0.979) deleterious(0.01) deleterious(0.828) NULL NHS 4810 genome.wustl.edu 37 X 17746168 17746168 + Silent SNP T T C novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_198270.2 +1 reviewed p.V1293 0.000 94 0% 90 34.4% 2 0% - - - NULL RBM10 8241 genome.wustl.edu 37 X 47040715 47040716 + Frame_Shift_Del DEL AG AG - novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_005676.3 +1 reviewed p.E451fs 1.000:1.000 - - - - - - - - - NULL UBA1 7317 genome.wustl.edu 37 X 47058449 47058449 + Silent SNP A A G novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_003334.3 +1 reviewed p.G40 1.000 214 0% 172 20.3% 156 5.7% - - - NULL PORCN 64840 genome.wustl.edu 37 X 48368228 48368228 + Missense_Mutation SNP A A G novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_203475.1 +1 reviewed p.Q7R 1.000 56 0% 59 30.5% 12 0% benign(0) tolerated(0.74) neutral(0.002) NULL WAS 7454 genome.wustl.edu 37 X 48543955 48543955 + Missense_Mutation SNP A A T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_000377.2 +1 reviewed p.E98V 1.000 171 0% 135 20.7% 10 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_WH1,HMMSmart_WH1,superfamily_SSF50729 CCNB3 85417 genome.wustl.edu 37 X 50051776 50051776 + Missense_Mutation SNP G G T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_033031.2 +1 reviewed p.D203Y 0.000 62 0% 73 31.5% 0 - probably_damaging(0.981) deleterious(0) deleterious(0.870) NULL MAGED1 9500 genome.wustl.edu 37 X 51639644 51639644 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001005333.1 +1 reviewed p.T354M 0.968 69 0% 48 47.9% 178 73% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL LAS1L 81887 genome.wustl.edu 37 X 64749620 64749620 + Missense_Mutation SNP A A T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_031206.4 -1 validated p.V218D 0.000 532 0% 450 10.4% 18 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL EFNB1 1947 genome.wustl.edu 37 X 68059543 68059543 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_004429.4 +1 reviewed p.R148Q 1.000 137 0% 116 27.6% 51 86.2% benign(0.389) tolerated(0.67) neutral(0.127) HMMPfam_Ephrin,superfamily_Cupredoxin ARMCX1 51309 genome.wustl.edu 37 X 100809032 100809032 + Silent SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_016608.1 +1 reviewed p.L373 1.000 84 0% 78 39.7% 2 0% - - - HMMPfam_DUF634,superfamily_ARM-type_fold MID2 11043 genome.wustl.edu 37 X 107084192 107084192 + Silent SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_012216.3 +1 reviewed p.L99 1.000 87 0% 66 39.4% 5 0% - - - superfamily_RING/U-box TEX13B 56156 genome.wustl.edu 37 X 107224633 107224633 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_031273.2 -1 reviewed p.A206T 0.000 37 0% 32 53.1% 0 - benign(0.164) deleterious(0.02) neutral(0.398) NULL CAPN6 827 genome.wustl.edu 37 X 110495637 110495637 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_014289.3 -1 reviewed p.M199I 0.998 151 0% 133 41.4% 28 96.4% benign(0.007) tolerated(0.07) neutral(0.319) HMMPfam_Peptidase_C2,HMMSmart_CysPc,superfamily_SSF54001 DCX 1641 genome.wustl.edu 37 X 110653422 110653422 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_000555.2 -1 reviewed p.V150M 1.000 299 0% 285 30.9% 1 100% possibly_damaging(0.839) deleterious(0.02) deleterious(0.704) HMMSmart_SM00537,superfamily_Doublecortin (DC) RBMXL3 139804 genome.wustl.edu 37 X 114426342 114426342 + Missense_Mutation SNP G G A rs182038264 by1000genomes TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001145346.1 +1 validated p.E780K 0.126 46 0% 44 52.3% 0 - benign(0.35) deleterious(0) deleterious(0.555) NULL LUZP4 51213 genome.wustl.edu 37 X 114540909 114540909 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_016383.3 +1 validated p.R161Q 0.001 171 0% 178 31.5% 0 - benign(0.019) tolerated(0.23) neutral(0.043) NULL LAMP2 3920 genome.wustl.edu 37 X 119602962 119602962 + Silent SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001122606.1 -1 reviewed p.L21 0.590 42 0% 29 41.4% 80 62.5% - - - NULL STAG2 10735 genome.wustl.edu 37 X 123200240 123200240 + Frame_Shift_Del DEL T T - novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001042749.1 +1 validated p.V740fs 1.000 - - - - - - - - - superfamily_ARM-type_fold GPR119 139760 genome.wustl.edu 37 X 129518803 129518803 + Missense_Mutation SNP C C A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_178471.2 -1 reviewed p.A207S 0.991 117 0% 95 18.9% 0 - benign(0.055) tolerated(0.38) neutral(0.021) HMMPfam_7tm_1,superfamily_SSF81321 HS6ST2 90161 genome.wustl.edu 37 X 132091210 132091210 + Silent SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001077188.1 -1 reviewed p.P191 0.954 43 0% 30 33.3% 3 0% - - - HMMPfam_HS6ST FAM127C 441518 genome.wustl.edu 37 X 134156426 134156426 + Missense_Mutation SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001078173.1 -1 validated p.R22C 0.071 30 0% 39 48.7% 89 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL FAM127B 26071 genome.wustl.edu 37 X 134185959 134185959 + Silent SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001078172.1 -1 validated p.N60 0.243 107 0% 95 28.4% 282 0% - - - NULL SLITRK2 84631 genome.wustl.edu 37 X 144906205 144906205 + Silent SNP G G A novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001144003.2 +1 reviewed p.L754 0.995 118 0% 99 22.2% 0 - - - - NULL PNCK 139728 genome.wustl.edu 37 X 152936842 152936842 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af ENST00000370142 -1 known p.R194H 0.000 30 0% 35 34.3% 0 - possibly_damaging(0.574) tolerated(0.17) neutral(0.256) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase PNCK 139728 genome.wustl.edu 37 X 152936949 152936949 + Missense_Mutation SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af ENST00000449157 -1 known p.R198K 0.062 42 0% 45 35.6% 0 - - - - NULL L1CAM 3897 genome.wustl.edu 37 X 153133559 153133559 + Silent SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af ENST00000455590 -1 known p.G32D 0.000 51 0% 33 21.2% 1 0% - - - HMMPfam_I-set,superfamily_Immunoglobulin ATP6AP1 537 genome.wustl.edu 37 X 153660232 153660232 + Silent SNP C C T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_001183.4 +1 reviewed p.S115 0.994 101 0% 84 38.1% 189 0% - - - HMMPfam_ATP-synt_S1 IL9R 3581 genome.wustl.edu 37 X 155235059 155235059 + Missense_Mutation SNP G G T novel TCGA-D1-A17H-01A-11D-A12J-09 TCGA-D1-A17H-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2652514c-f314-4eee-9d47-1339ec2cdfca 7f944455-f368-4a2f-8aa6-acff7a2c18af NM_002186.2 +1 reviewed p.E232D 0.002 313 0% 251 29.9% 1 0% benign(0.273) tolerated(0.08) neutral(0.329) PatternScan_HEMATOPO_REC_S_F1,superfamily_FN_III-like