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 MIB2 142678 genome.wustl.edu 37 1 1560527 1560527 + Missense_Mutation SNP C C T novel TCGA-AX-A0IS-01A-12D-A10M-09 TCGA-AX-A0IS-10B-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5aa01e72-3aa0-4c48-9de6-ad23e747813a 243ab27f-ec43-4c3b-a30c-4ed1f0dbc619 NM_080875.2 +1 validated p.A286V 0.299 85 0% 137 45.3% 4 50% benign(0) tolerated(0.47) neutral(0.011) NULL ARID1A 8289 genome.wustl.edu 37 1 27056278 27056278 + Frame_Shift_Del DEL A A - novel TCGA-AX-A0IS-01A-12D-A10M-09 TCGA-AX-A0IS-10B-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5aa01e72-3aa0-4c48-9de6-ad23e747813a 243ab27f-ec43-4c3b-a30c-4ed1f0dbc619 NM_006015.4 +1 reviewed p.Q425fs 1.000 - - - - - - - - - NULL INPP5B 3633 genome.wustl.edu 37 1 38341325 38341325 + Missense_Mutation SNP T T G novel TCGA-AX-A0IS-01A-12D-A10M-09 TCGA-AX-A0IS-10B-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5aa01e72-3aa0-4c48-9de6-ad23e747813a 243ab27f-ec43-4c3b-a30c-4ed1f0dbc619 NM_005540.2 -1 reviewed p.K581Q 1.000 122 0% 199 41.2% 2 0% probably_damaging(1) deleterious(0.05) deleterious(0.845) superfamily_DNase I-like PTGFR 5737 genome.wustl.edu 37 1 78958469 78958469 + Missense_Mutation SNP C C A novel TCGA-AX-A0IS-01A-12D-A10M-09 TCGA-AX-A0IS-10B-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5aa01e72-3aa0-4c48-9de6-ad23e747813a 243ab27f-ec43-4c3b-a30c-4ed1f0dbc619 NM_000959.3 +1 reviewed p.A14D 0.997 80 0% 121 43% 0 - benign(0.055) tolerated(0.32) neutral(0.028) superfamily_SSF81321 KCNJ9 3765 genome.wustl.edu 37 1 160053908 160053908 + Missense_Mutation SNP C C G novel TCGA-AX-A0IS-01A-12D-A10M-09 TCGA-AX-A0IS-10B-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5aa01e72-3aa0-4c48-9de6-ad23e747813a 243ab27f-ec43-4c3b-a30c-4ed1f0dbc619 NM_004983.2 +1 reviewed p.R30G 0.037 11 0% 27 55.6% 0 - possibly_damaging(0.574) tolerated(0.31) neutral(0.224) HMMPfam_IRK TNN 63923 genome.wustl.edu 37 1 175067712 175067712 + Silent SNP C C T novel TCGA-AX-A0IS-01A-12D-A10M-09 TCGA-AX-A0IS-10B-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5aa01e72-3aa0-4c48-9de6-ad23e747813a 243ab27f-ec43-4c3b-a30c-4ed1f0dbc619 NM_022093.1 +1 validated p.A700 0.006 70 0% 237 25.3% 0 - - - - superfamily_Fibronectin type III POLR1A 25885 genome.wustl.edu 37 2 86270192 86270192 + Missense_Mutation SNP C C T novel TCGA-AX-A0IS-01A-12D-A10M-09 TCGA-AX-A0IS-10B-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5aa01e72-3aa0-4c48-9de6-ad23e747813a 243ab27f-ec43-4c3b-a30c-4ed1f0dbc619 NM_015425.3 -1 validated p.A1088T 0.998 244 0% 462 42.9% 3 33.3% probably_damaging(0.957) tolerated(0.06) deleterious(0.723) HMMPfam_RNA_pol_Rpb1_5,superfamily_beta and beta-prime subunits of DNA dependent RNA-polymerase SCN2A 6326 genome.wustl.edu 37 2 166152377 166152377 + Missense_Mutation SNP G G A novel TCGA-AX-A0IS-01A-12D-A10M-09 TCGA-AX-A0IS-10B-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5aa01e72-3aa0-4c48-9de6-ad23e747813a 243ab27f-ec43-4c3b-a30c-4ed1f0dbc619 NM_001040142.1 +1 reviewed p.R15H 1.000 110 0% 188 39.4% 0 - benign(0.001) deleterious(0.04) neutral(0.349) NULL C2orf80 389073 genome.wustl.edu 37 2 209049699 209049699 + Silent SNP C C T novel TCGA-AX-A0IS-01A-12D-A10M-09 TCGA-AX-A0IS-10B-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5aa01e72-3aa0-4c48-9de6-ad23e747813a 243ab27f-ec43-4c3b-a30c-4ed1f0dbc619 NM_001099334.2 -1 validated p.R33 1.000 235 0% 375 43.7% 0 - - - - NULL DOCK10 55619 genome.wustl.edu 37 2 225729661 225729661 + Silent SNP G G A novel TCGA-AX-A0IS-01A-12D-A10M-09 TCGA-AX-A0IS-10B-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5aa01e72-3aa0-4c48-9de6-ad23e747813a 243ab27f-ec43-4c3b-a30c-4ed1f0dbc619 NM_014689.2 -1 validated p.I467 0.014 122 0% 220 41.4% 0 - - - - NULL CPNE9 151835 genome.wustl.edu 37 3 9754512 9754512 + Missense_Mutation SNP C C T rs190521882 by1000genomes TCGA-AX-A0IS-01A-12D-A10M-09 TCGA-AX-A0IS-10B-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5aa01e72-3aa0-4c48-9de6-ad23e747813a 243ab27f-ec43-4c3b-a30c-4ed1f0dbc619 NM_153635.2 +1 validated p.T182M 1.000 99 0% 154 47.4% 0 - possibly_damaging(0.925) deleterious(0.02) deleterious(0.756) HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB STAC 6769 genome.wustl.edu 37 3 36484943 36484943 + Missense_Mutation SNP G G A novel TCGA-AX-A0IS-01A-12D-A10M-09 TCGA-AX-A0IS-10B-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5aa01e72-3aa0-4c48-9de6-ad23e747813a 243ab27f-ec43-4c3b-a30c-4ed1f0dbc619 NM_003149.1 +1 provisional p.E67K 0.631 105 0% 134 35.8% 0 - benign(0.043) deleterious(0) neutral(0.447) NULL SLC22A14 9389 genome.wustl.edu 37 3 38357968 38357968 + Silent SNP G G A novel TCGA-AX-A0IS-01A-12D-A10M-09 TCGA-AX-A0IS-10B-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5aa01e72-3aa0-4c48-9de6-ad23e747813a 243ab27f-ec43-4c3b-a30c-4ed1f0dbc619 NM_004803.3 +1 validated p.T562 0.000 114 0% 187 41.2% 0 - - - - superfamily_MFS general substrate transporter CTNNB1 1499 genome.wustl.edu 37 3 41266113 41266113 + Missense_Mutation SNP C C G rs121913403 byCluster TCGA-AX-A0IS-01A-12D-A10M-09 TCGA-AX-A0IS-10B-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5aa01e72-3aa0-4c48-9de6-ad23e747813a 243ab27f-ec43-4c3b-a30c-4ed1f0dbc619 NM_001098209.1 +1 reviewed p.S37C 1.000 64 0% 132 40.2% 53 47.1% probably_damaging(1) deleterious(0) deleterious(0.945) NULL VIPR1 7433 genome.wustl.edu 37 3 42555251 42555251 + Missense_Mutation SNP C C T rs193233046 by1000genomes TCGA-AX-A0IS-01A-12D-A10M-09 TCGA-AX-A0IS-10B-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5aa01e72-3aa0-4c48-9de6-ad23e747813a 243ab27f-ec43-4c3b-a30c-4ed1f0dbc619 NM_004624.3 +1 validated p.A30V 0.269 69 0% 100 43% 0 - benign(0.006) tolerated(0.22) neutral(0.042) superfamily_Hormone receptor domain (HRM Pfam 02793) CELSR3 1951 genome.wustl.edu 37 3 48683669 48683669 + Missense_Mutation SNP C C A novel TCGA-AX-A0IS-01A-12D-A10M-09 TCGA-AX-A0IS-10B-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5aa01e72-3aa0-4c48-9de6-ad23e747813a 243ab27f-ec43-4c3b-a30c-4ed1f0dbc619 NM_001407.2 -1 reviewed p.M2439I 1.000 32 0% 55 40% 0 - benign(0.026) tolerated(1) neutral(0.001) NULL PRR23B 389151 genome.wustl.edu 37 3 138739156 138739156 + Silent SNP G G A novel TCGA-AX-A0IS-01A-12D-A10M-09 TCGA-AX-A0IS-10B-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5aa01e72-3aa0-4c48-9de6-ad23e747813a 243ab27f-ec43-4c3b-a30c-4ed1f0dbc619 NM_001013650.2 -1 validated p.H116 0.000 37 2.7% 61 39.3% 0 - - - - HMMPfam_DUF2476 SLITRK3 22865 genome.wustl.edu 37 3 164906726 164906726 + Missense_Mutation SNP G G T novel TCGA-AX-A0IS-01A-12D-A10M-09 TCGA-AX-A0IS-10B-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5aa01e72-3aa0-4c48-9de6-ad23e747813a 243ab27f-ec43-4c3b-a30c-4ed1f0dbc619 NM_014926.2 -1 validated p.H631Q 0.514 62 0% 75 48% 0 - benign(0.202) tolerated(0.64) neutral(0.022) NULL SLC7A14 57709 genome.wustl.edu 37 3 170184992 170184992 + Missense_Mutation SNP G G A novel TCGA-AX-A0IS-01A-12D-A10M-09 TCGA-AX-A0IS-10B-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5aa01e72-3aa0-4c48-9de6-ad23e747813a 243ab27f-ec43-4c3b-a30c-4ed1f0dbc619 NM_020949.2 -1 validated p.P723S 0.996 58 0% 96 33.3% 0 - benign(0) tolerated(0.4) neutral(0.016) NULL APOD 347 genome.wustl.edu 37 3 195306238 195306238 + Missense_Mutation SNP G G A novel TCGA-AX-A0IS-01A-12D-A10M-09 TCGA-AX-A0IS-10B-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5aa01e72-3aa0-4c48-9de6-ad23e747813a 243ab27f-ec43-4c3b-a30c-4ed1f0dbc619 NM_001647.3 -1 reviewed p.P32L 0.717 86 0% 149 35.6% 31 0% possibly_damaging(0.536) tolerated(0.07) deleterious(0.500) superfamily_Lipocalins KIAA0232 9778 genome.wustl.edu 37 4 6860211 6860211 + Missense_Mutation SNP C C T novel TCGA-AX-A0IS-01A-12D-A10M-09 TCGA-AX-A0IS-10B-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5aa01e72-3aa0-4c48-9de6-ad23e747813a 243ab27f-ec43-4c3b-a30c-4ed1f0dbc619 NM_001100590.1 +1 validated p.P166S 0.049 47 0% 84 35.7% 0 - benign(0) tolerated(0.44) neutral(0.013) NULL PIK3R1 5295 genome.wustl.edu 37 5 67589264 67589264 + Frame_Shift_Del DEL C C - novel TCGA-AX-A0IS-01A-12D-A10M-09 TCGA-AX-A0IS-10B-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5aa01e72-3aa0-4c48-9de6-ad23e747813a 243ab27f-ec43-4c3b-a30c-4ed1f0dbc619 NM_181523.1 +1 reviewed p.K419fs 1.000 - - - - - - - - - superfamily_SH2 domain PIK3R1 5295 genome.wustl.edu 37 5 67591126 67591128 + In_Frame_Del DEL GAG GAG - novel TCGA-AX-A0IS-01A-12D-A10M-09 TCGA-AX-A0IS-10B-01D-A10M-09 GAG GAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5aa01e72-3aa0-4c48-9de6-ad23e747813a 243ab27f-ec43-4c3b-a30c-4ed1f0dbc619 NM_181523.1 +1 reviewed p.R574in_frame_del 1.000:1.000:1.000 - - - - - - - - - NULL PCDHA3 56145 genome.wustl.edu 37 5 140182232 140182232 + Missense_Mutation SNP G G A novel TCGA-AX-A0IS-01A-12D-A10M-09 TCGA-AX-A0IS-10B-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5aa01e72-3aa0-4c48-9de6-ad23e747813a 243ab27f-ec43-4c3b-a30c-4ed1f0dbc619 NM_018906.2 +1 reviewed p.A484T 0.239 74 0% 187 23% 0 - benign(0.033) tolerated(0.26) neutral(0.036) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like FARS2 10667 genome.wustl.edu 37 6 5545497 5545497 + Missense_Mutation SNP G G A novel TCGA-AX-A0IS-01A-12D-A10M-09 TCGA-AX-A0IS-10B-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5aa01e72-3aa0-4c48-9de6-ad23e747813a 243ab27f-ec43-4c3b-a30c-4ed1f0dbc619 NM_006567.3 +1 reviewed p.R330H 1.000 157 0% 270 51.5% 24 45.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_tRNA-synt_2d,superfamily_SSF55681 KDM1B 221656 genome.wustl.edu 37 6 18197353 18197353 + Silent SNP C C T novel TCGA-AX-A0IS-01A-12D-A10M-09 TCGA-AX-A0IS-10B-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5aa01e72-3aa0-4c48-9de6-ad23e747813a 243ab27f-ec43-4c3b-a30c-4ed1f0dbc619 ENST00000449850 +1 known p.A162V 0.159 171 0% 254 37.4% 0 - - - - NULL RHAG 6005 genome.wustl.edu 37 6 49582522 49582522 + Missense_Mutation SNP T T C novel TCGA-AX-A0IS-01A-12D-A10M-09 TCGA-AX-A0IS-10B-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5aa01e72-3aa0-4c48-9de6-ad23e747813a 243ab27f-ec43-4c3b-a30c-4ed1f0dbc619 NM_000324.2 -1 reviewed p.I229V 1.000 173 0% 299 43.5% 0 - benign(0.004) tolerated(0.61) neutral(0.004) HMMPfam_Ammonium_transp,superfamily_RH_like_transpt EYS 346007 genome.wustl.edu 37 6 65622579 65622579 + Silent SNP G G A novel TCGA-AX-A0IS-01A-12D-A10M-09 TCGA-AX-A0IS-10B-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5aa01e72-3aa0-4c48-9de6-ad23e747813a 243ab27f-ec43-4c3b-a30c-4ed1f0dbc619 NM_001142800.1 -1 reviewed p.C813 1.000 139 0% 209 41.6% 0 - - - - HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,superfamily_EGF/Laminin IMPG1 3617 genome.wustl.edu 37 6 76751758 76751758 + Missense_Mutation SNP C C A novel TCGA-AX-A0IS-01A-12D-A10M-09 TCGA-AX-A0IS-10B-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5aa01e72-3aa0-4c48-9de6-ad23e747813a 243ab27f-ec43-4c3b-a30c-4ed1f0dbc619 NM_001563.2 -1 provisional p.M51I 0.001 252 0% 452 36.1% 0 - benign(0.001) tolerated(0.41) neutral(0.015) NULL ESR1 2099 genome.wustl.edu 37 6 152419922 152419922 + Missense_Mutation SNP T T A novel TCGA-AX-A0IS-01A-12D-A10M-09 TCGA-AX-A0IS-10B-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5aa01e72-3aa0-4c48-9de6-ad23e747813a 243ab27f-ec43-4c3b-a30c-4ed1f0dbc619 NM_000125.3 +1 reviewed p.Y537N 0.998 124 0% 212 39.2% 19 57.8% probably_damaging(0.981) deleterious(0) deleterious(0.870) HMMPfam_Hormone_recep,superfamily_Nuclear receptor ligand-binding domain FZD9 8326 genome.wustl.edu 37 7 72849924 72849924 + Missense_Mutation SNP G G T novel TCGA-AX-A0IS-01A-12D-A10M-09 TCGA-AX-A0IS-10B-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5aa01e72-3aa0-4c48-9de6-ad23e747813a 243ab27f-ec43-4c3b-a30c-4ed1f0dbc619 NM_003508.2 +1 reviewed p.W529C 1.000 25 0% 40 47.5% 0 - possibly_damaging(0.865) deleterious(0.02) deleterious(0.718) HMMPfam_Frizzled GAL3ST4 79690 genome.wustl.edu 37 7 99757795 99757795 + Missense_Mutation SNP T T C novel TCGA-AX-A0IS-01A-12D-A10M-09 TCGA-AX-A0IS-10B-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5aa01e72-3aa0-4c48-9de6-ad23e747813a 243ab27f-ec43-4c3b-a30c-4ed1f0dbc619 NM_024637.4 -1 reviewed p.H406R 0.000 59 0% 79 34.2% 1 0% benign(0) tolerated(0.51) neutral(0.009) HMMPfam_Gal-3-0_sulfotr PRSS55 203074 genome.wustl.edu 37 8 10388838 10388838 + Silent SNP C C T rs35035741 TCGA-AX-A0IS-01A-12D-A10M-09 TCGA-AX-A0IS-10B-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5aa01e72-3aa0-4c48-9de6-ad23e747813a 243ab27f-ec43-4c3b-a30c-4ed1f0dbc619 NM_198464.2 +1 validated p.N127 0.001 43 0% 76 38.2% 0 - - - - HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases CRH 1392 genome.wustl.edu 37 8 67089246 67089246 + Missense_Mutation SNP T T G novel TCGA-AX-A0IS-01A-12D-A10M-09 TCGA-AX-A0IS-10B-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5aa01e72-3aa0-4c48-9de6-ad23e747813a 243ab27f-ec43-4c3b-a30c-4ed1f0dbc619 NM_000756.2 -1 reviewed p.E156A 1.000 46 0% 76 47.4% 0 - probably_damaging(0.99) deleterious(0.01) deleterious(0.847) HMMPfam_CRF,HMMSmart_SM00039 ZFHX4 79776 genome.wustl.edu 37 8 77620381 77620381 + Missense_Mutation SNP G G T novel TCGA-AX-A0IS-01A-12D-A10M-09 TCGA-AX-A0IS-10B-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5aa01e72-3aa0-4c48-9de6-ad23e747813a 243ab27f-ec43-4c3b-a30c-4ed1f0dbc619 ENST00000458716 +1 known p.R1038I 0.000 24 0% 31 45.2% 0 - - - - NULL ZFHX4 79776 genome.wustl.edu 37 8 77766989 77766989 + Missense_Mutation SNP C C T novel TCGA-AX-A0IS-01A-12D-A10M-09 TCGA-AX-A0IS-10B-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5aa01e72-3aa0-4c48-9de6-ad23e747813a 243ab27f-ec43-4c3b-a30c-4ed1f0dbc619 NM_024721.4 +1 validated p.T2566M 1.000 43 0% 91 36.3% 0 - probably_damaging(1) - - HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like ZBTB10 65986 genome.wustl.edu 37 8 81411923 81411924 + Frame_Shift_Ins INS - - AA novel TCGA-AX-A0IS-01A-12D-A10M-09 TCGA-AX-A0IS-10B-01D-A10M-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5aa01e72-3aa0-4c48-9de6-ad23e747813a 243ab27f-ec43-4c3b-a30c-4ed1f0dbc619 NM_001105539.1 +1 validated p.T390fs 1.000:1.000 - - - - - - - - - HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB SCRIB 23513 genome.wustl.edu 37 8 144893469 144893469 + Missense_Mutation SNP T T C novel TCGA-AX-A0IS-01A-12D-A10M-09 TCGA-AX-A0IS-10B-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5aa01e72-3aa0-4c48-9de6-ad23e747813a 243ab27f-ec43-4c3b-a30c-4ed1f0dbc619 NM_182706.3 -1 validated p.N318S 1.000 16 0% 15 46.7% 8 12.5% possibly_damaging(0.666) deleterious(0.01) deleterious(0.641) HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00364,superfamily_RNI-like FKBP15 23307 genome.wustl.edu 37 9 115932151 115932153 + In_Frame_Del DEL TTC TTC - novel TCGA-AX-A0IS-01A-12D-A10M-09 TCGA-AX-A0IS-10B-01D-A10M-09 TTC TTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5aa01e72-3aa0-4c48-9de6-ad23e747813a 243ab27f-ec43-4c3b-a30c-4ed1f0dbc619 NM_015258.1 -1 validated p.E946in_frame_del 0.005:0.077:0.278 - - - - - - - - - NULL WDFY4 57705 genome.wustl.edu 37 10 50025340 50025340 + Silent SNP C C T novel TCGA-AX-A0IS-01A-12D-A10M-09 TCGA-AX-A0IS-10B-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5aa01e72-3aa0-4c48-9de6-ad23e747813a 243ab27f-ec43-4c3b-a30c-4ed1f0dbc619 ENST00000312002 +1 known p.R888C 0.240 39 0% 54 83.3% 0 - - - - NULL MAT1A 4143 genome.wustl.edu 37 10 82034908 82034908 + Silent SNP G G A novel TCGA-AX-A0IS-01A-12D-A10M-09 TCGA-AX-A0IS-10B-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5aa01e72-3aa0-4c48-9de6-ad23e747813a 243ab27f-ec43-4c3b-a30c-4ed1f0dbc619 NM_000429.2 -1 reviewed p.G272 0.030 34 0% 46 45.7% 0 - - - - HMMPfam_S-AdoMet_synt_C,superfamily_S-AdoMet_synt PTEN 5728 genome.wustl.edu 37 10 89720750 89720750 + Frame_Shift_Del DEL G G - novel TCGA-AX-A0IS-01A-12D-A10M-09 TCGA-AX-A0IS-10B-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5aa01e72-3aa0-4c48-9de6-ad23e747813a 243ab27f-ec43-4c3b-a30c-4ed1f0dbc619 ENST00000371953 +1 known p.D301fs 1.000 - - - - - - - - - superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_PTEN_C2 AHNAK 79026 genome.wustl.edu 37 11 62291583 62291583 + Missense_Mutation SNP C C T novel TCGA-AX-A0IS-01A-12D-A10M-09 TCGA-AX-A0IS-10B-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5aa01e72-3aa0-4c48-9de6-ad23e747813a 243ab27f-ec43-4c3b-a30c-4ed1f0dbc619 NM_001620.1 -1 validated p.A3436T 0.000 147 0% 218 40.4% 4 50% benign(0) tolerated(0.84) neutral(0.001) NULL MRGPRF 116535 genome.wustl.edu 37 11 68773203 68773203 + Missense_Mutation SNP G G A novel TCGA-AX-A0IS-01A-12D-A10M-09 TCGA-AX-A0IS-10B-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5aa01e72-3aa0-4c48-9de6-ad23e747813a 243ab27f-ec43-4c3b-a30c-4ed1f0dbc619 NM_001098515.1 -1 validated p.A192V 0.000 22 0% 30 46.7% 2 0% benign(0.012) tolerated(0.6) neutral(0.005) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like TRHDE 29953 genome.wustl.edu 37 12 72680730 72680730 + Missense_Mutation SNP T T C novel TCGA-AX-A0IS-01A-12D-A10M-09 TCGA-AX-A0IS-10B-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5aa01e72-3aa0-4c48-9de6-ad23e747813a 243ab27f-ec43-4c3b-a30c-4ed1f0dbc619 NM_013381.2 +1 reviewed p.V350A 1.000 134 0% 187 42.2% 0 - probably_damaging(0.999) tolerated(0.27) deleterious(0.524) HMMPfam_Peptidase_M1,superfamily_SSF55486 CUX2 23316 genome.wustl.edu 37 12 111748367 111748367 + Missense_Mutation SNP G G A novel TCGA-AX-A0IS-01A-12D-A10M-09 TCGA-AX-A0IS-10B-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5aa01e72-3aa0-4c48-9de6-ad23e747813a 243ab27f-ec43-4c3b-a30c-4ed1f0dbc619 NM_015267.3 +1 validated p.R594Q 1.000 28 0% 29 41.4% 3 0% probably_damaging(0.987) deleterious(0.01) deleterious(0.842) HMMPfam_CUT CLMN 79789 genome.wustl.edu 37 14 95669799 95669800 + Frame_Shift_Del DEL AT AT - novel TCGA-AX-A0IS-01A-12D-A10M-09 TCGA-AX-A0IS-10B-01D-A10M-09 AT AT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5aa01e72-3aa0-4c48-9de6-ad23e747813a 243ab27f-ec43-4c3b-a30c-4ed1f0dbc619 NM_024734.3 -1 validated p.H629fs 0.000:0.000 - - - - - - - - - NULL TMEM87A 25963 genome.wustl.edu 37 15 42564301 42564301 + Missense_Mutation SNP A A C novel TCGA-AX-A0IS-01A-12D-A10M-09 TCGA-AX-A0IS-10B-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5aa01e72-3aa0-4c48-9de6-ad23e747813a 243ab27f-ec43-4c3b-a30c-4ed1f0dbc619 NM_015497.3 -1 validated p.F55L 1.000 41 0% 89 36% 13 61.5% probably_damaging(0.987) deleterious(0.02) deleterious(0.820) NULL DECR2 26063 genome.wustl.edu 37 16 460225 460225 + Silent SNP C C T novel TCGA-AX-A0IS-01A-12D-A10M-09 TCGA-AX-A0IS-10B-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5aa01e72-3aa0-4c48-9de6-ad23e747813a 243ab27f-ec43-4c3b-a30c-4ed1f0dbc619 ENST00000397710 +1 known p.C169 0.001 54 0% 89 39.3% 2 50% - - - superfamily_NAD(P)-bd USP7 7874 genome.wustl.edu 37 16 9017170 9017170 + Silent SNP C C T novel TCGA-AX-A0IS-01A-12D-A10M-09 TCGA-AX-A0IS-10B-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5aa01e72-3aa0-4c48-9de6-ad23e747813a 243ab27f-ec43-4c3b-a30c-4ed1f0dbc619 NM_003470.2 -1 validated p.L95 1.000 231 0% 368 39.9% 13 61.5% - - - HMMPfam_MATH,HMMSmart_MATH,superfamily_Traf_like CES1 1066 genome.wustl.edu 37 16 55846934 55846934 + Missense_Mutation SNP C C G novel TCGA-AX-A0IS-01A-12D-A10M-09 TCGA-AX-A0IS-10B-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5aa01e72-3aa0-4c48-9de6-ad23e747813a 243ab27f-ec43-4c3b-a30c-4ed1f0dbc619 NM_001025195.1 -1 reviewed p.V323L 0.934 126 0% 176 34.7% 0 - benign(0.049) deleterious(0.01) neutral(0.409) HMMPfam_COesterase,superfamily_SSF53474 POLDIP2 26073 genome.wustl.edu 37 17 26684390 26684391 + Frame_Shift_Ins INS - - C rs11448856 byCluster;by1000genomes TCGA-AX-A0IS-01A-12D-A10M-09 TCGA-AX-A0IS-10B-01D-A10M-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5aa01e72-3aa0-4c48-9de6-ad23e747813a 243ab27f-ec43-4c3b-a30c-4ed1f0dbc619 NM_015584.3 -1 reviewed p.P27fs 0.174:0.160 - - - - - - - - - NULL AATK 9625 genome.wustl.edu 37 17 79101685 79101685 + Missense_Mutation SNP C C A novel TCGA-AX-A0IS-01A-12D-A10M-09 TCGA-AX-A0IS-10B-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5aa01e72-3aa0-4c48-9de6-ad23e747813a 243ab27f-ec43-4c3b-a30c-4ed1f0dbc619 NM_001080395.2 -1 reviewed p.G147V 0.970 35 0% 60 36.7% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP TCEB3C 162699 genome.wustl.edu 37 18 44554841 44554841 + Missense_Mutation SNP G G A novel TCGA-AX-A0IS-01A-12D-A10M-09 TCGA-AX-A0IS-10B-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5aa01e72-3aa0-4c48-9de6-ad23e747813a 243ab27f-ec43-4c3b-a30c-4ed1f0dbc619 NM_145653.3 -1 reviewed p.T458M 0.003 405 0% 694 5% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ST8SIA3 51046 genome.wustl.edu 37 18 55024403 55024403 + Missense_Mutation SNP C C T novel TCGA-AX-A0IS-01A-12D-A10M-09 TCGA-AX-A0IS-10B-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5aa01e72-3aa0-4c48-9de6-ad23e747813a 243ab27f-ec43-4c3b-a30c-4ed1f0dbc619 NM_015879.2 +1 validated p.R188C 1.000 104 0% 185 44.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Glyco_transf_29 C19orf77 284422 genome.wustl.edu 37 19 3478864 3478864 + Missense_Mutation SNP A A G rs143623853 by1000genomes TCGA-AX-A0IS-01A-12D-A10M-09 TCGA-AX-A0IS-10B-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5aa01e72-3aa0-4c48-9de6-ad23e747813a 243ab27f-ec43-4c3b-a30c-4ed1f0dbc619 NM_001136503.1 -1 validated p.I44T 0.690 4 0.000 27 0.444 1 0% probably_damaging(0.995) deleterious(0.01) deleterious(0.863) NULL ARHGEF1 9138 genome.wustl.edu 37 19 42396676 42396676 + Missense_Mutation SNP C C T novel TCGA-AX-A0IS-01A-12D-A10M-09 TCGA-AX-A0IS-10B-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5aa01e72-3aa0-4c48-9de6-ad23e747813a 243ab27f-ec43-4c3b-a30c-4ed1f0dbc619 NM_199002.1 +1 reviewed p.R139C 1.000 29 0% 45 42.2% 18 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RGS-like,superfamily_Regulat_G_prot_signal_superfam DBP 1628 genome.wustl.edu 37 19 49134211 49134211 + Silent SNP C C T novel TCGA-AX-A0IS-01A-12D-A10M-09 TCGA-AX-A0IS-10B-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5aa01e72-3aa0-4c48-9de6-ad23e747813a 243ab27f-ec43-4c3b-a30c-4ed1f0dbc619 NM_001352.3 -1 validated p.A287 0.995 24 0% 67 41.8% 87 52.8% - - - HMMSmart_SM00338,HMMPfam_bZIP_2 ZSCAN5B 342933 genome.wustl.edu 37 19 56701609 56701609 + Missense_Mutation SNP C C T novel TCGA-AX-A0IS-01A-12D-A10M-09 TCGA-AX-A0IS-10B-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5aa01e72-3aa0-4c48-9de6-ad23e747813a 243ab27f-ec43-4c3b-a30c-4ed1f0dbc619 NM_001080456.2 -1 validated p.V359M 0.000 161 0% 235 36.6% 0 - possibly_damaging(0.496) tolerated(0.09) neutral(0.462) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 E2F1 1869 genome.wustl.edu 37 20 32267639 32267639 + Missense_Mutation SNP C C T novel TCGA-AX-A0IS-01A-12D-A10M-09 TCGA-AX-A0IS-10B-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5aa01e72-3aa0-4c48-9de6-ad23e747813a 243ab27f-ec43-4c3b-a30c-4ed1f0dbc619 NM_005225.2 -1 reviewed p.R165Q 1.000 133 0% 260 38.1% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_E2F_TDP,superfamily_SSF46785 URB1 9875 genome.wustl.edu 37 21 33711134 33711134 + Silent SNP G G A rs146193643 by1000genomes TCGA-AX-A0IS-01A-12D-A10M-09 TCGA-AX-A0IS-10B-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5aa01e72-3aa0-4c48-9de6-ad23e747813a 243ab27f-ec43-4c3b-a30c-4ed1f0dbc619 NM_014825.2 -1 validated p.S1464 0.000 87 0% 159 40.3% 2 50% - - - superfamily_ARM repeat INPP5J 27124 genome.wustl.edu 37 22 31521707 31521707 + Missense_Mutation SNP C C T novel TCGA-AX-A0IS-01A-12D-A10M-09 TCGA-AX-A0IS-10B-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5aa01e72-3aa0-4c48-9de6-ad23e747813a 243ab27f-ec43-4c3b-a30c-4ed1f0dbc619 ENST00000331075 +1 known p.R328W 0.995 35 0% 44 40.9% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL BIK 638 genome.wustl.edu 37 22 43520122 43520122 + Missense_Mutation SNP A A C novel TCGA-AX-A0IS-01A-12D-A10M-09 TCGA-AX-A0IS-10B-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5aa01e72-3aa0-4c48-9de6-ad23e747813a 243ab27f-ec43-4c3b-a30c-4ed1f0dbc619 NM_001197.3 +1 reviewed p.M32L 0.000 161 0% 233 39.5% 11 72.7% benign(0) tolerated(0.27) neutral(0.034) NULL GSPT2 23708 genome.wustl.edu 37 X 51488296 51488296 + Missense_Mutation SNP A A C novel TCGA-AX-A0IS-01A-12D-A10M-09 TCGA-AX-A0IS-10B-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5aa01e72-3aa0-4c48-9de6-ad23e747813a 243ab27f-ec43-4c3b-a30c-4ed1f0dbc619 NM_018094.4 +1 reviewed p.Q525P 1.000 246 0% 406 38.2% 1 0% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_GTP_EFTU_D3,superfamily_Elong_init_C GPRASP2 114928 genome.wustl.edu 37 X 101970794 101970794 + Missense_Mutation SNP G G C novel TCGA-AX-A0IS-01A-12D-A10M-09 TCGA-AX-A0IS-10B-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5aa01e72-3aa0-4c48-9de6-ad23e747813a 243ab27f-ec43-4c3b-a30c-4ed1f0dbc619 NM_001004051.2 +1 reviewed p.E333Q 0.429 111 0% 208 41.3% 1 0% possibly_damaging(0.807) deleterious(0.02) deleterious(0.687) NULL IRS4 8471 genome.wustl.edu 37 X 107976835 107976835 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0IS-01A-12D-A10M-09 TCGA-AX-A0IS-10B-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5aa01e72-3aa0-4c48-9de6-ad23e747813a 243ab27f-ec43-4c3b-a30c-4ed1f0dbc619 NM_003604.2 -1 reviewed p.E914* 0.994 253 0% 467 36.6% 0 - - - - NULL LOC644717 644717 genome.wustl.edu 37 X 134808451 134808451 + Missense_Mutation SNP G G C novel TCGA-AX-A0IS-01A-12D-A10M-09 TCGA-AX-A0IS-10B-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5aa01e72-3aa0-4c48-9de6-ad23e747813a 243ab27f-ec43-4c3b-a30c-4ed1f0dbc619 XM_002343850.1 -1 model p.L482V 0.000 67 0% 97 34% 0 - - - - NULL LOC100129236 100129236 genome.wustl.edu 37 X 150684501 150684501 + Missense_Mutation SNP T T C novel TCGA-AX-A0IS-01A-12D-A10M-09 TCGA-AX-A0IS-10B-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5aa01e72-3aa0-4c48-9de6-ad23e747813a 243ab27f-ec43-4c3b-a30c-4ed1f0dbc619 XM_001716550.1 +1 model p.L104P 0.001 84 0% 107 45.8% 0 - - - - NULL GABRA3 2556 genome.wustl.edu 37 X 151358241 151358241 + Silent SNP A A C novel TCGA-AX-A0IS-01A-12D-A10M-09 TCGA-AX-A0IS-10B-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5aa01e72-3aa0-4c48-9de6-ad23e747813a 243ab27f-ec43-4c3b-a30c-4ed1f0dbc619 NM_000808.3 -1 reviewed p.A368 1.000 65 0% 148 42.6% 0 - - - - HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM ZFP92 139735 genome.wustl.edu 37 X 152686579 152686579 + Silent SNP C C T novel TCGA-AX-A0IS-01A-12D-A10M-09 TCGA-AX-A0IS-10B-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5aa01e72-3aa0-4c48-9de6-ad23e747813a 243ab27f-ec43-4c3b-a30c-4ed1f0dbc619 NM_001136273.1 +1 validated p.S248 0.985 39 0% 59 44.1% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZFP92 139735 genome.wustl.edu 37 X 152686771 152686771 + Silent SNP C C A novel TCGA-AX-A0IS-01A-12D-A10M-09 TCGA-AX-A0IS-10B-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5aa01e72-3aa0-4c48-9de6-ad23e747813a 243ab27f-ec43-4c3b-a30c-4ed1f0dbc619 NM_001136273.1 +1 validated p.R312 0.347 16 0% 25 56% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667