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 IL23R 149233 genome.wustl.edu 37 1 67635073 67635073 + Missense_Mutation SNP C C A novel TCGA-D1-A17S-01A-11D-A12J-09 TCGA-D1-A17S-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63f6f30b-6668-4cfe-8800-75eeeba315ea b83c7217-9a89-491c-96e2-27a56cd8cadb NM_144701.2 +1 reviewed p.T40K 0.527 107 0% 107 27.1% 0 - benign(0) tolerated(0.78) neutral(0.001) NULL SHC1 6464 genome.wustl.edu 37 1 154938892 154938892 + Missense_Mutation SNP C C A novel TCGA-D1-A17S-01A-11D-A12J-09 TCGA-D1-A17S-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63f6f30b-6668-4cfe-8800-75eeeba315ea b83c7217-9a89-491c-96e2-27a56cd8cadb NM_001130040.1 -1 validated p.G362V 1.000 96 0% 86 48.8% 7 0% probably_damaging(0.992) deleterious(0) deleterious(0.892) NULL SMG5 23381 genome.wustl.edu 37 1 156236063 156236063 + Missense_Mutation SNP C C T novel TCGA-D1-A17S-01A-11D-A12J-09 TCGA-D1-A17S-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63f6f30b-6668-4cfe-8800-75eeeba315ea b83c7217-9a89-491c-96e2-27a56cd8cadb NM_015327.2 -1 validated p.R455H 1.000 64 0% 82 36.6% 3 100% possibly_damaging(0.696) tolerated(0.11) deleterious(0.521) NULL PTPRC 5788 genome.wustl.edu 37 1 198703553 198703553 + Missense_Mutation SNP G G T novel TCGA-D1-A17S-01A-11D-A12J-09 TCGA-D1-A17S-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63f6f30b-6668-4cfe-8800-75eeeba315ea b83c7217-9a89-491c-96e2-27a56cd8cadb NM_002838.3 +1 reviewed p.R757M 1.000 381 0% 451 41.9% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Y_phosphatase,HMMSmart_SM00194,superfamily_(Phosphotyrosine protein) phosphatases II ATP6V1C2 245973 genome.wustl.edu 37 2 10915102 10915122 + Splice_Site DEL TTAAGGTTCACTGTTCGTGAA TTAAGGTTCACTGTTCGTGAA - novel TCGA-D1-A17S-01A-11D-A12J-09 TCGA-D1-A17S-10A-01D-A12J-09 TTAAGGTTCACTGTTCGTGAA TTAAGGTTCACTGTTCGTGAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63f6f30b-6668-4cfe-8800-75eeeba315ea b83c7217-9a89-491c-96e2-27a56cd8cadb NM_001039362.1 +1 reviewed e9-1 0.996:1.000:1.000:1.000:1.000:1.000:1.000:0.997:0.995:1.000:0.995:0.573:0.992:1.000:0.969:1.000:1.000:1.000 - - - - - - - - - - LRP1B 53353 genome.wustl.edu 37 2 141242991 141242991 + Missense_Mutation SNP G G A novel TCGA-D1-A17S-01A-11D-A12J-09 TCGA-D1-A17S-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63f6f30b-6668-4cfe-8800-75eeeba315ea b83c7217-9a89-491c-96e2-27a56cd8cadb NM_018557.2 -1 validated p.L3116F 1.000 577 0% 539 39.9% 0 - benign(0.167) deleterious(0.01) neutral(0.421) HMMPfam_Ldl_recept_b,HMMSmart_LY,superfamily_SSF63825 FLJ45964 401040 genome.wustl.edu 37 2 240500083 240500083 + RNA SNP C C A novel TCGA-D1-A17S-01A-11D-A12J-09 TCGA-D1-A17S-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63f6f30b-6668-4cfe-8800-75eeeba315ea b83c7217-9a89-491c-96e2-27a56cd8cadb XR_041563.1 +1 model NULL 0.293 71 0% 80 38.8% 0 - - - - - CTNNB1 1499 genome.wustl.edu 37 3 41266097 41266097 + Missense_Mutation SNP G G T novel TCGA-D1-A17S-01A-11D-A12J-09 TCGA-D1-A17S-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63f6f30b-6668-4cfe-8800-75eeeba315ea b83c7217-9a89-491c-96e2-27a56cd8cadb NM_001098209.1 +1 reviewed p.D32Y 1.000 144 0% 110 42.7% 3 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PLS1 5357 genome.wustl.edu 37 3 142396911 142396911 + Missense_Mutation SNP G G A novel TCGA-D1-A17S-01A-11D-A12J-09 TCGA-D1-A17S-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63f6f30b-6668-4cfe-8800-75eeeba315ea b83c7217-9a89-491c-96e2-27a56cd8cadb NM_001145319.1 +1 reviewed p.E179K 1.000 294 0% 274 51.1% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_CH,HMMSmart_CH,superfamily_Calponin-homology GMPS 8833 genome.wustl.edu 37 3 155611487 155611487 + Missense_Mutation SNP C C T novel TCGA-D1-A17S-01A-11D-A12J-09 TCGA-D1-A17S-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63f6f30b-6668-4cfe-8800-75eeeba315ea b83c7217-9a89-491c-96e2-27a56cd8cadb NM_003875.2 +1 reviewed p.R70C 1.000 155 0.6% 182 40.7% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_GATase,superfamily_Class I glutamine amidotransferase-like FNDC3B 64778 genome.wustl.edu 37 3 172061888 172061888 + Missense_Mutation SNP C C T novel TCGA-D1-A17S-01A-11D-A12J-09 TCGA-D1-A17S-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63f6f30b-6668-4cfe-8800-75eeeba315ea b83c7217-9a89-491c-96e2-27a56cd8cadb NM_001135095.1 +1 validated p.S697L 0.028 156 0% 166 36.7% 3 66.6% benign(0.001) tolerated(0.66) neutral(0.003) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III PIK3CA 5290 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G rs121913279 byCluster TCGA-D1-A17S-01A-11D-A12J-09 TCGA-D1-A17S-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63f6f30b-6668-4cfe-8800-75eeeba315ea b83c7217-9a89-491c-96e2-27a56cd8cadb NM_006218.2 +1 reviewed p.H1047R 1.000 195 0% 253 51% 5 40% possibly_damaging(0.926) deleterious(0.03) deleterious(0.739) HMMSmart_PI3Kc,superfamily_Kinase_like GLRA3 8001 genome.wustl.edu 37 4 175598257 175598257 + Missense_Mutation SNP C C T novel TCGA-D1-A17S-01A-11D-A12J-09 TCGA-D1-A17S-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63f6f30b-6668-4cfe-8800-75eeeba315ea b83c7217-9a89-491c-96e2-27a56cd8cadb NM_006529.2 -1 validated p.S300N 1.000 142 0% 160 40% 0 - probably_damaging(0.998) deleterious(0.04) deleterious(0.823) HMMPfam_Neur_chan_memb,superfamily_Neurotransmitter-gated ion-channel transmembrane pore ODZ3 55714 genome.wustl.edu 37 4 183714528 183714528 + Missense_Mutation SNP C C T novel TCGA-D1-A17S-01A-11D-A12J-09 TCGA-D1-A17S-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63f6f30b-6668-4cfe-8800-75eeeba315ea b83c7217-9a89-491c-96e2-27a56cd8cadb NM_001080477.1 +1 provisional p.R2235C 1.000 142 0% 184 47.8% 0 - probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_RHS_repeat PRKAA1 5562 genome.wustl.edu 37 5 40764721 40764721 + Missense_Mutation SNP G G A novel TCGA-D1-A17S-01A-11D-A12J-09 TCGA-D1-A17S-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63f6f30b-6668-4cfe-8800-75eeeba315ea b83c7217-9a89-491c-96e2-27a56cd8cadb NM_206907.3 -1 reviewed p.R459C 1.000 331 0% 335 42.4% 6 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL BTN3A3 10384 genome.wustl.edu 37 6 26452317 26452317 + Missense_Mutation SNP C C T novel TCGA-D1-A17S-01A-11D-A12J-09 TCGA-D1-A17S-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63f6f30b-6668-4cfe-8800-75eeeba315ea b83c7217-9a89-491c-96e2-27a56cd8cadb NM_006994.4 +1 validated p.T478I 0.000 207 0% 241 42.3% 12 41.6% benign(0.284) tolerated(0.09) neutral(0.383) HMMPfam_SPRY,HMMSmart_SPRY MICA 100507436 genome.wustl.edu 37 6 31379863 31379863 + Silent SNP G G A novel TCGA-D1-A17S-01A-11D-A12J-09 TCGA-D1-A17S-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63f6f30b-6668-4cfe-8800-75eeeba315ea b83c7217-9a89-491c-96e2-27a56cd8cadb ENST00000376219 +1 known p.Q251 0.011 55 0% 65 12.3% 41 2.4% - - - HMMPfam_C1-set,HMMSmart_SM00407,superfamily_Immunoglobulin GARS 2617 genome.wustl.edu 37 7 30668230 30668230 + Missense_Mutation SNP T T C novel TCGA-D1-A17S-01A-11D-A12J-09 TCGA-D1-A17S-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63f6f30b-6668-4cfe-8800-75eeeba315ea b83c7217-9a89-491c-96e2-27a56cd8cadb NM_002047.2 +1 reviewed p.M585T 1.000 429 0.2% 501 44.3% 8 25% benign(0.107) deleterious(0.02) neutral(0.392) superfamily_Class II aaRS and biotin synthetases POU6F2 11281 genome.wustl.edu 37 7 39243867 39243867 + Missense_Mutation SNP G G A novel TCGA-D1-A17S-01A-11D-A12J-09 TCGA-D1-A17S-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63f6f30b-6668-4cfe-8800-75eeeba315ea b83c7217-9a89-491c-96e2-27a56cd8cadb NM_007252.3 +1 reviewed p.G75D 1.000 413 0% 355 42.3% 0 - possibly_damaging(0.674) tolerated(0.05) deleterious(0.585) NULL OR1K1 392392 genome.wustl.edu 37 9 125562840 125562840 + Missense_Mutation SNP G G A novel TCGA-D1-A17S-01A-11D-A12J-09 TCGA-D1-A17S-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63f6f30b-6668-4cfe-8800-75eeeba315ea b83c7217-9a89-491c-96e2-27a56cd8cadb NM_080859.1 +1 provisional p.G147R 0.431 39 0% 57 15.8% 0 - possibly_damaging(0.811) tolerated(0.12) deleterious(0.566) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like NOTCH1 4851 genome.wustl.edu 37 9 139417591 139417591 + Silent SNP G G A novel TCGA-D1-A17S-01A-11D-A12J-09 TCGA-D1-A17S-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63f6f30b-6668-4cfe-8800-75eeeba315ea b83c7217-9a89-491c-96e2-27a56cd8cadb NM_017617.3 -1 reviewed p.N151 0.929 35 0% 45 44.4% 1 100% - - - HMMPfam_EGF,HMMSmart_EGF,superfamily_SSF57196 CDH23 64072 genome.wustl.edu 37 10 73558192 73558192 + Missense_Mutation SNP G G A novel TCGA-D1-A17S-01A-11D-A12J-09 TCGA-D1-A17S-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63f6f30b-6668-4cfe-8800-75eeeba315ea b83c7217-9a89-491c-96e2-27a56cd8cadb NM_022124.5 +1 reviewed p.R2304Q 1.000 89 0% 112 42.9% 0 - possibly_damaging(0.632) tolerated(0.25) neutral(0.258) HMMPfam_Cadherin,superfamily_Cadherin-like PTEN 5728 genome.wustl.edu 37 10 89711966 89711967 + Frame_Shift_Ins INS - - TC novel TCGA-D1-A17S-01A-11D-A12J-09 TCGA-D1-A17S-10A-01D-A12J-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63f6f30b-6668-4cfe-8800-75eeeba315ea b83c7217-9a89-491c-96e2-27a56cd8cadb ENST00000371953 +1 known p.H196fs 1.000:1.000 - - - - - - - - - superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_PTEN_C2 TRIM8 81603 genome.wustl.edu 37 10 104404546 104404546 + Missense_Mutation SNP G G T novel TCGA-D1-A17S-01A-11D-A12J-09 TCGA-D1-A17S-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63f6f30b-6668-4cfe-8800-75eeeba315ea b83c7217-9a89-491c-96e2-27a56cd8cadb NM_030912.2 +1 validated p.A58S 1.000 40 0% 49 10.2% 7 0% possibly_damaging(0.891) tolerated(0.24) neutral(0.388) superfamily_SSF57850 LUZP2 338645 genome.wustl.edu 37 11 24518841 24518841 + Missense_Mutation SNP C C T novel TCGA-D1-A17S-01A-11D-A12J-09 TCGA-D1-A17S-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63f6f30b-6668-4cfe-8800-75eeeba315ea b83c7217-9a89-491c-96e2-27a56cd8cadb NM_001009909.2 +1 validated p.L18F 0.998 31 0% 28 42.9% 0 - possibly_damaging(0.45) tolerated(0.36) neutral(0.167) NULL DYNC2H1 79659 genome.wustl.edu 37 11 103059234 103059234 + Silent SNP G G A novel TCGA-D1-A17S-01A-11D-A12J-09 TCGA-D1-A17S-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63f6f30b-6668-4cfe-8800-75eeeba315ea b83c7217-9a89-491c-96e2-27a56cd8cadb NM_001080463.1 +1 reviewed p.T2383 0.931 237 0% 229 39.7% 0 - - - - HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases NTM 50863 genome.wustl.edu 37 11 132177634 132177634 + Missense_Mutation SNP G G A novel TCGA-D1-A17S-01A-11D-A12J-09 TCGA-D1-A17S-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63f6f30b-6668-4cfe-8800-75eeeba315ea b83c7217-9a89-491c-96e2-27a56cd8cadb NM_001144058.1 +1 reviewed p.R193K 1.000 181 0% 220 33.6% 0 - benign(0.31) deleterious(0.04) neutral(0.446) HMMSmart_IGc2,HMMPfam_I-set,superfamily_SSF48726 DYRK4 8798 genome.wustl.edu 37 12 4714162 4714162 + Missense_Mutation SNP G G T novel TCGA-D1-A17S-01A-11D-A12J-09 TCGA-D1-A17S-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63f6f30b-6668-4cfe-8800-75eeeba315ea b83c7217-9a89-491c-96e2-27a56cd8cadb NM_003845.1 +1 provisional p.W288C 1.000 94 0% 114 44.7% 8 37.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase GPR19 2842 genome.wustl.edu 37 12 12815027 12815027 + Missense_Mutation SNP G G A novel TCGA-D1-A17S-01A-11D-A12J-09 TCGA-D1-A17S-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63f6f30b-6668-4cfe-8800-75eeeba315ea b83c7217-9a89-491c-96e2-27a56cd8cadb NM_006143.2 -1 validated p.T119M 0.882 158 0% 180 42.2% 0 - benign(0.002) tolerated(0.45) neutral(0.012) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like MYO16 23026 genome.wustl.edu 37 13 109707440 109707440 + Missense_Mutation SNP G G A novel TCGA-D1-A17S-01A-11D-A12J-09 TCGA-D1-A17S-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63f6f30b-6668-4cfe-8800-75eeeba315ea b83c7217-9a89-491c-96e2-27a56cd8cadb NM_015011.1 +1 validated p.R1010Q 0.900 215 0% 176 45.5% 0 - probably_damaging(1) tolerated(0.05) deleterious(0.845) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases PAPOLA 10914 genome.wustl.edu 37 14 97031314 97031314 + Missense_Mutation SNP C C T novel TCGA-D1-A17S-01A-11D-A12J-09 TCGA-D1-A17S-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63f6f30b-6668-4cfe-8800-75eeeba315ea b83c7217-9a89-491c-96e2-27a56cd8cadb NM_032632.3 +1 validated p.S722F 1.000 540 0% 511 40.3% 12 41.6% probably_damaging(0.981) deleterious(0) deleterious(0.870) NULL C15orf44 81556 genome.wustl.edu 37 15 65899518 65899518 + Silent SNP C C T novel TCGA-D1-A17S-01A-11D-A12J-09 TCGA-D1-A17S-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63f6f30b-6668-4cfe-8800-75eeeba315ea b83c7217-9a89-491c-96e2-27a56cd8cadb NM_030800.1 -1 predicted p.T67 0.827 152 0% 174 45.4% 0 - - - - superfamily_vWA-like ALPK3 57538 genome.wustl.edu 37 15 85401200 85401200 + Silent SNP C C T novel TCGA-D1-A17S-01A-11D-A12J-09 TCGA-D1-A17S-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63f6f30b-6668-4cfe-8800-75eeeba315ea b83c7217-9a89-491c-96e2-27a56cd8cadb NM_020778.4 +1 validated p.D1279 0.352 10 0% 13 46.2% 0 - - - - NULL CTCF 10664 genome.wustl.edu 37 16 67654607 67654607 + Missense_Mutation SNP A A C novel TCGA-D1-A17S-01A-11D-A12J-09 TCGA-D1-A17S-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63f6f30b-6668-4cfe-8800-75eeeba315ea b83c7217-9a89-491c-96e2-27a56cd8cadb NM_006565.2 +1 reviewed p.K365T 1.000 126 0% 164 43.3% 4 100% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers CMIP 80790 genome.wustl.edu 37 16 81641227 81641227 + Missense_Mutation SNP T T A novel TCGA-D1-A17S-01A-11D-A12J-09 TCGA-D1-A17S-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63f6f30b-6668-4cfe-8800-75eeeba315ea b83c7217-9a89-491c-96e2-27a56cd8cadb NM_198390.2 +1 validated p.L119Q 1.000 220 0% 209 34% 0 - probably_damaging(0.962) tolerated(0.1) deleterious(0.692) PatternScan_WD_REPEATS_1,superfamily_PH domain-like ENSG00000168738 0 genome.wustl.edu 37 18 10855487 10855487 + Missense_Mutation SNP G G A novel TCGA-D1-A17S-01A-11D-A12J-09 TCGA-D1-A17S-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63f6f30b-6668-4cfe-8800-75eeeba315ea b83c7217-9a89-491c-96e2-27a56cd8cadb ENST00000302079 -1 known p.R133W 1.000 96 0% 124 46% 0 - probably_damaging(0.984) tolerated(0.06) deleterious(0.753) NULL C3 718 genome.wustl.edu 37 19 6710653 6710653 + Silent SNP G G A novel TCGA-D1-A17S-01A-11D-A12J-09 TCGA-D1-A17S-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63f6f30b-6668-4cfe-8800-75eeeba315ea b83c7217-9a89-491c-96e2-27a56cd8cadb NM_000064.2 -1 reviewed p.G561 1.000 20 0% 14 50% 0 - - - - HMMPfam_A2M_N_2 COL5A3 50509 genome.wustl.edu 37 19 10077059 10077059 + Silent SNP C C T novel TCGA-D1-A17S-01A-11D-A12J-09 TCGA-D1-A17S-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63f6f30b-6668-4cfe-8800-75eeeba315ea b83c7217-9a89-491c-96e2-27a56cd8cadb NM_015719.3 -1 reviewed p.S1571 0.123 70 0% 65 30.8% 3 0% - - - HMMPfam_COLFI,HMMSmart_SM00038 LOC644189 644189 genome.wustl.edu 37 19 36912831 36912831 + RNA SNP C C T novel TCGA-D1-A17S-01A-11D-A12J-09 TCGA-D1-A17S-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63f6f30b-6668-4cfe-8800-75eeeba315ea b83c7217-9a89-491c-96e2-27a56cd8cadb XR_016949.3 +1 model NULL 0.998 17 0% 27 40.7% 0 - - - - - ZIM2 23619 genome.wustl.edu 37 19 57286803 57286803 + Silent SNP C C T rs191866455 by1000genomes TCGA-D1-A17S-01A-11D-A12J-09 TCGA-D1-A17S-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63f6f30b-6668-4cfe-8800-75eeeba315ea b83c7217-9a89-491c-96e2-27a56cd8cadb NM_015363.4 -1 reviewed p.P279 0.005 238 0% 299 40.8% 0 - - - - NULL C21orf88 114041 genome.wustl.edu 37 21 40969852 40969852 + Missense_Mutation SNP C C G novel TCGA-D1-A17S-01A-11D-A12J-09 TCGA-D1-A17S-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63f6f30b-6668-4cfe-8800-75eeeba315ea b83c7217-9a89-491c-96e2-27a56cd8cadb ENST00000380612 -1 known p.D73H 0.001 162 0% 195 43.1% 0 - unknown(0) - - NULL LARGE 9215 genome.wustl.edu 37 22 33673046 33673046 + Silent SNP C C T novel TCGA-D1-A17S-01A-11D-A12J-09 TCGA-D1-A17S-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63f6f30b-6668-4cfe-8800-75eeeba315ea b83c7217-9a89-491c-96e2-27a56cd8cadb NM_004737.4 -1 reviewed p.Q691 1.000 73 0% 113 36.3% 3 33.3% - - - NULL CACNG2 10369 genome.wustl.edu 37 22 36962420 36962420 + Missense_Mutation SNP C C G novel TCGA-D1-A17S-01A-11D-A12J-09 TCGA-D1-A17S-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63f6f30b-6668-4cfe-8800-75eeeba315ea b83c7217-9a89-491c-96e2-27a56cd8cadb NM_006078.2 -1 reviewed p.G139A 1.000 165 0% 203 45.8% 0 - probably_damaging(0.984) deleterious(0) deleterious(0.875) HMMPfam_PMP22_Claudin SHANK3 85358 genome.wustl.edu 37 22 51159751 51159751 + Missense_Mutation SNP C C T novel TCGA-D1-A17S-01A-11D-A12J-09 TCGA-D1-A17S-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63f6f30b-6668-4cfe-8800-75eeeba315ea b83c7217-9a89-491c-96e2-27a56cd8cadb NM_001080420.1 +1 reviewed p.R1180W 0.469 27 0% 30 33.3% 0 - possibly_damaging(0.723) deleterious(0.02) deleterious(0.645) NULL MAGEE1 57692 genome.wustl.edu 37 X 75649041 75649041 + Missense_Mutation SNP G G A novel TCGA-D1-A17S-01A-11D-A12J-09 TCGA-D1-A17S-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63f6f30b-6668-4cfe-8800-75eeeba315ea b83c7217-9a89-491c-96e2-27a56cd8cadb NM_020932.2 +1 reviewed p.A240T 0.000 17 0% 15 80% 0 - possibly_damaging(0.482) tolerated(0.09) neutral(0.457) NULL UPF3B 65109 genome.wustl.edu 37 X 118971920 118971920 + Missense_Mutation SNP G G A novel TCGA-D1-A17S-01A-11D-A12J-09 TCGA-D1-A17S-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63f6f30b-6668-4cfe-8800-75eeeba315ea b83c7217-9a89-491c-96e2-27a56cd8cadb NM_080632.1 -1 reviewed p.R368W 1.000 429 0.2% 477 40% 11 0% probably_damaging(0.999) tolerated(0.16) deleterious(0.550) NULL MAP7D3 79649 genome.wustl.edu 37 X 135310849 135310849 + Missense_Mutation SNP G G A novel TCGA-D1-A17S-01A-11D-A12J-09 TCGA-D1-A17S-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63f6f30b-6668-4cfe-8800-75eeeba315ea b83c7217-9a89-491c-96e2-27a56cd8cadb NM_024597.3 -1 reviewed p.R607C 0.056 422 0.2% 419 38.9% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MAP7 MAGEA10 4109 genome.wustl.edu 37 X 151303895 151303895 + Silent SNP T T A novel TCGA-D1-A17S-01A-11D-A12J-09 TCGA-D1-A17S-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63f6f30b-6668-4cfe-8800-75eeeba315ea b83c7217-9a89-491c-96e2-27a56cd8cadb NM_001011543.1 -1 reviewed p.L66 0.001 326 0% 309 43% 1 0% - - - NULL