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 CASZ1 54897 genome.wustl.edu 37 1 10714626 10714626 + Missense_Mutation SNP G G T novel TCGA-BS-A0U9-01B-21D-A10M-09 TCGA-BS-A0U9-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 82be6087-a491-42d4-9b48-6a10d1bace18 814cf72d-a67e-441e-91da-fe8f74f53b94 NM_001079843.1 -1 validated p.T563K 1.000 184 0% 224 42.4% 8 62.5% probably_damaging(0.998) deleterious(0.05) deleterious(0.820) PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers SEPN1 57190 genome.wustl.edu 37 1 26136184 26136184 + Missense_Mutation SNP G G A novel TCGA-BS-A0U9-01B-21D-A10M-09 TCGA-BS-A0U9-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 82be6087-a491-42d4-9b48-6a10d1bace18 814cf72d-a67e-441e-91da-fe8f74f53b94 ENST00000354177 +1 known p.E261K 1.000 117 0% 223 26% 80 16.2% probably_damaging(0.996) deleterious(0.03) deleterious(0.826) NULL MTF1 4520 genome.wustl.edu 37 1 38281006 38281012 + Frame_Shift_Del DEL GGATGAT GGATGAT - novel TCGA-BS-A0U9-01B-21D-A10M-09 TCGA-BS-A0U9-10A-01D-A10M-09 GGATGAT GGATGAT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 82be6087-a491-42d4-9b48-6a10d1bace18 814cf72d-a67e-441e-91da-fe8f74f53b94 NM_005955.2 -1 reviewed p.S687fs 0.047:0.082:0.059:0.029:0.210:0.047:0.000 - - - - - - - - - NULL PIK3R3 8503 genome.wustl.edu 37 1 46521590 46521590 + Missense_Mutation SNP C C G novel TCGA-BS-A0U9-01B-21D-A10M-09 TCGA-BS-A0U9-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 82be6087-a491-42d4-9b48-6a10d1bace18 814cf72d-a67e-441e-91da-fe8f74f53b94 NM_001114172.1 -1 validated p.S273T 1.000 330 0% 191 45.5% 15 53.3% possibly_damaging(0.678) tolerated(0.09) deleterious(0.538) NULL TXNIP 10628 genome.wustl.edu 37 1 145440062 145440064 + In_Frame_Del DEL AAG AAG - novel TCGA-BS-A0U9-01B-21D-A10M-09 TCGA-BS-A0U9-10A-01D-A10M-09 AAG AAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 82be6087-a491-42d4-9b48-6a10d1bace18 814cf72d-a67e-441e-91da-fe8f74f53b94 NM_006472.3 +1 validated p.K167in_frame_del 1.000:1.000:1.000 - - - - - - - - - superfamily_Ig_E-set TCHH 7062 genome.wustl.edu 37 1 152080295 152080295 + Missense_Mutation SNP C C T novel TCGA-BS-A0U9-01B-21D-A10M-09 TCGA-BS-A0U9-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 82be6087-a491-42d4-9b48-6a10d1bace18 814cf72d-a67e-441e-91da-fe8f74f53b94 NM_007113.2 -1 provisional p.E1800K 0.971 257 0% 439 27.8% 0 - possibly_damaging(0.936) - - NULL IL24 11009 genome.wustl.edu 37 1 207076380 207076380 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0U9-01B-21D-A10M-09 TCGA-BS-A0U9-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 82be6087-a491-42d4-9b48-6a10d1bace18 814cf72d-a67e-441e-91da-fe8f74f53b94 NM_006850.2 +1 reviewed p.W199* 1.000 168 0% 158 32.9% 1 0% - - - superfamily_4_helix_cytokine CLASP1 23332 genome.wustl.edu 37 2 122165156 122165156 + Missense_Mutation SNP T T A novel TCGA-BS-A0U9-01B-21D-A10M-09 TCGA-BS-A0U9-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 82be6087-a491-42d4-9b48-6a10d1bace18 814cf72d-a67e-441e-91da-fe8f74f53b94 NM_015282.2 -1 validated p.T854S 1.000 173 0% 53 22.6% 2 0% probably_damaging(0.998) tolerated(0.49) deleterious(0.485) NULL MBD5 55777 genome.wustl.edu 37 2 149226969 149226969 + Missense_Mutation SNP T T C novel TCGA-BS-A0U9-01B-21D-A10M-09 TCGA-BS-A0U9-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 82be6087-a491-42d4-9b48-6a10d1bace18 814cf72d-a67e-441e-91da-fe8f74f53b94 NM_018328.4 +1 reviewed p.I486T 1.000 149 0% 40 32.5% 3 66.6% possibly_damaging(0.873) deleterious(0.01) deleterious(0.745) NULL KCNH8 131096 genome.wustl.edu 37 3 19575061 19575061 + Missense_Mutation SNP C C A novel TCGA-BS-A0U9-01B-21D-A10M-09 TCGA-BS-A0U9-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 82be6087-a491-42d4-9b48-6a10d1bace18 814cf72d-a67e-441e-91da-fe8f74f53b94 NM_144633.2 +1 reviewed p.Q932K 1.000 105 0% 29 48.3% 0 - possibly_damaging(0.496) tolerated(0.23) neutral(0.207) NULL PIK3R1 5295 genome.wustl.edu 37 5 67591143 67591144 + Frame_Shift_Del DEL AA AA - novel TCGA-BS-A0U9-01B-21D-A10M-09 TCGA-BS-A0U9-10A-01D-A10M-09 AA AA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 82be6087-a491-42d4-9b48-6a10d1bace18 814cf72d-a67e-441e-91da-fe8f74f53b94 NM_181523.1 +1 reviewed p.Q579fs 1.000:0.989 - - - - - - - - - NULL PIK3R1 5295 genome.wustl.edu 37 5 67591146 67591146 + Frame_Shift_Del DEL A A - novel TCGA-BS-A0U9-01B-21D-A10M-09 TCGA-BS-A0U9-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 82be6087-a491-42d4-9b48-6a10d1bace18 814cf72d-a67e-441e-91da-fe8f74f53b94 NM_181523.1 +1 reviewed p.Y580fs 1.000 - - - - - - - - - NULL PIK3R1 5295 genome.wustl.edu 37 5 67591148 67591154 + Frame_Shift_Del DEL TTGATGT TTGATGT - novel TCGA-BS-A0U9-01B-21D-A10M-09 TCGA-BS-A0U9-10A-01D-A10M-09 TTGATGT TTGATGT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 82be6087-a491-42d4-9b48-6a10d1bace18 814cf72d-a67e-441e-91da-fe8f74f53b94 NM_181523.1 +1 reviewed p.L581fs 1.000:1.000:1.000:1.000:1.000 - - - - - - - - - NULL TRIM52 84851 genome.wustl.edu 37 5 180687418 180687418 + Frame_Shift_Del DEL C C - novel TCGA-BS-A0U9-01B-21D-A10M-09 TCGA-BS-A0U9-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 82be6087-a491-42d4-9b48-6a10d1bace18 814cf72d-a67e-441e-91da-fe8f74f53b94 NM_032765.2 -1 provisional p.D133fs 0.000 - - - - - - - - - HMMSmart_RING,superfamily_SSF57850 HLA-B 3106 genome.wustl.edu 37 6 31324373 31324374 + Frame_Shift_Del DEL AG AG - rs151341212 TCGA-BS-A0U9-01B-21D-A10M-09 TCGA-BS-A0U9-10A-01D-A10M-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 82be6087-a491-42d4-9b48-6a10d1bace18 814cf72d-a67e-441e-91da-fe8f74f53b94 ENST00000428231 -1 known p.L136fs 0.047:0.027 - - - - - - - - - NULL ENSG00000214666 0 genome.wustl.edu 37 6 44240667 44240667 + Missense_Mutation SNP C C T novel TCGA-BS-A0U9-01B-21D-A10M-09 TCGA-BS-A0U9-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 82be6087-a491-42d4-9b48-6a10d1bace18 814cf72d-a67e-441e-91da-fe8f74f53b94 ENST00000371508 +1 known p.P119L 0.000 47 0% 87 37.9% 0 - - - - NULL LOC100289653 100289653 genome.wustl.edu 37 6 87607246 87607246 + Silent SNP G G A novel TCGA-BS-A0U9-01B-21D-A10M-09 TCGA-BS-A0U9-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 82be6087-a491-42d4-9b48-6a10d1bace18 814cf72d-a67e-441e-91da-fe8f74f53b94 XM_002342648.1 +1 model p.R137 0.940 62 0% 54 16.7% 0 - - - - NULL ARID1B 57492 genome.wustl.edu 37 6 157521860 157521860 + Missense_Mutation SNP G G A novel TCGA-BS-A0U9-01B-21D-A10M-09 TCGA-BS-A0U9-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 82be6087-a491-42d4-9b48-6a10d1bace18 814cf72d-a67e-441e-91da-fe8f74f53b94 NM_017519.2 +1 validated p.G1360S 1.000 33 0% 40 22.5% 8 25% benign(0.064) - - NULL RSBN1L 222194 genome.wustl.edu 37 7 77394883 77394885 + In_Frame_Del DEL TGA TGA - novel TCGA-BS-A0U9-01B-21D-A10M-09 TCGA-BS-A0U9-10A-01D-A10M-09 TGA TGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 82be6087-a491-42d4-9b48-6a10d1bace18 814cf72d-a67e-441e-91da-fe8f74f53b94 NM_198467.2 +1 validated p.D473in_frame_del 0.996:1.000:1.000 - - - - - - - - - NULL MYOM2 9172 genome.wustl.edu 37 8 2064033 2064033 + Missense_Mutation SNP G G T novel TCGA-BS-A0U9-01B-21D-A10M-09 TCGA-BS-A0U9-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 82be6087-a491-42d4-9b48-6a10d1bace18 814cf72d-a67e-441e-91da-fe8f74f53b94 NM_003970.2 +1 validated p.A1117S 1.000 85 0% 87 23% 0 - benign(0.015) tolerated(0.29) neutral(0.030) NULL EFCAB4B 84766 genome.wustl.edu 37 12 3788124 3788124 + Missense_Mutation SNP G G A novel TCGA-BS-A0U9-01B-21D-A10M-09 TCGA-BS-A0U9-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 82be6087-a491-42d4-9b48-6a10d1bace18 814cf72d-a67e-441e-91da-fe8f74f53b94 NM_001144958.1 -1 validated p.R161W 0.998 258 0% 180 25% 1 100% benign(0.314) tolerated(0.19) neutral(0.148) NULL OS9 10956 genome.wustl.edu 37 12 58112083 58112083 + Missense_Mutation SNP G G A rs193011962 by1000genomes TCGA-BS-A0U9-01B-21D-A10M-09 TCGA-BS-A0U9-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 82be6087-a491-42d4-9b48-6a10d1bace18 814cf72d-a67e-441e-91da-fe8f74f53b94 NM_006812.3 +1 reviewed p.R430Q 0.381 705 0% 609 19.2% 193 24.3% benign(0.269) tolerated(0.75) neutral(0.030) NULL DTX1 1840 genome.wustl.edu 37 12 113531471 113531471 + Silent SNP G G T novel TCGA-BS-A0U9-01B-21D-A10M-09 TCGA-BS-A0U9-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 82be6087-a491-42d4-9b48-6a10d1bace18 814cf72d-a67e-441e-91da-fe8f74f53b94 NM_004416.2 +1 reviewed p.V377 1.000 12 0% 18 38.9% 0 - - - - NULL TBX3 6926 genome.wustl.edu 37 12 115120860 115120860 + Missense_Mutation SNP T T C novel TCGA-BS-A0U9-01B-21D-A10M-09 TCGA-BS-A0U9-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 82be6087-a491-42d4-9b48-6a10d1bace18 814cf72d-a67e-441e-91da-fe8f74f53b94 NM_016569.3 -1 reviewed p.N49S 1.000 10 0% 14 35.7% 1 0% benign(0.001) tolerated(0.23) neutral(0.042) NULL RB1 5925 genome.wustl.edu 37 13 49039206 49039206 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0U9-01B-21D-A10M-09 TCGA-BS-A0U9-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 82be6087-a491-42d4-9b48-6a10d1bace18 814cf72d-a67e-441e-91da-fe8f74f53b94 NM_000321.2 +1 reviewed p.Q762* 1.000 144 0% 98 75.5% 1 100% - - - HMMPfam_RB_B,superfamily_Cyclin-like LOC283685 283685 genome.wustl.edu 37 15 23685826 23685828 + In_Frame_Del DEL TCT TCT - novel TCGA-BS-A0U9-01B-21D-A10M-09 TCGA-BS-A0U9-10A-01D-A10M-09 TCT TCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 82be6087-a491-42d4-9b48-6a10d1bace18 814cf72d-a67e-441e-91da-fe8f74f53b94 XM_002343322.1 -1 model p.K528in_frame_del 0.000:0.000:0.000 - - - - - - - - - NULL HERC1 8925 genome.wustl.edu 37 15 63967150 63967150 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0U9-01B-21D-A10M-09 TCGA-BS-A0U9-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 82be6087-a491-42d4-9b48-6a10d1bace18 814cf72d-a67e-441e-91da-fe8f74f53b94 NM_003922.3 -1 reviewed p.R2413* 1.000 335 0% 130 24.6% 1 100% - - - NULL CILP 8483 genome.wustl.edu 37 15 65489645 65489645 + Silent SNP A A G novel TCGA-BS-A0U9-01B-21D-A10M-09 TCGA-BS-A0U9-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 82be6087-a491-42d4-9b48-6a10d1bace18 814cf72d-a67e-441e-91da-fe8f74f53b94 NM_003613.3 -1 reviewed p.T993 0.949 64 0% 70 58.6% 2 100% - - - NULL LINGO1 84894 genome.wustl.edu 37 15 77907881 77907881 + Missense_Mutation SNP G G A novel TCGA-BS-A0U9-01B-21D-A10M-09 TCGA-BS-A0U9-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 82be6087-a491-42d4-9b48-6a10d1bace18 814cf72d-a67e-441e-91da-fe8f74f53b94 NM_032808.5 -1 validated p.T123M 1.000 91 0% 85 61.2% 24 83.3% probably_damaging(0.977) tolerated(0.11) deleterious(0.691) HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like TP53 7157 genome.wustl.edu 37 17 7577566 7577566 + Missense_Mutation SNP T T C novel TCGA-BS-A0U9-01B-21D-A10M-09 TCGA-BS-A0U9-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 82be6087-a491-42d4-9b48-6a10d1bace18 814cf72d-a67e-441e-91da-fe8f74f53b94 NM_000546.4 -1 reviewed p.N239D 1.000 128 0% 68 75% 73 97.2% probably_damaging(0.96) deleterious(0.01) deleterious(0.808) PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53 DDX42 11325 genome.wustl.edu 37 17 61864561 61864561 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0U9-01B-21D-A10M-09 TCGA-BS-A0U9-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 82be6087-a491-42d4-9b48-6a10d1bace18 814cf72d-a67e-441e-91da-fe8f74f53b94 NM_007372.2 +1 reviewed p.S51* 1.000 222 0% 94 42.6% 6 33.3% - - - NULL ABCA7 10347 genome.wustl.edu 37 19 1056423 1056423 + Missense_Mutation SNP C C T novel TCGA-BS-A0U9-01B-21D-A10M-09 TCGA-BS-A0U9-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 82be6087-a491-42d4-9b48-6a10d1bace18 814cf72d-a67e-441e-91da-fe8f74f53b94 NM_019112.3 +1 reviewed p.A1504V 0.069 158 0% 117 51.3% 19 63.1% benign(0) tolerated(0.37) neutral(0.019) NULL SIN3B 23309 genome.wustl.edu 37 19 16989491 16989491 + Missense_Mutation SNP G G A novel TCGA-BS-A0U9-01B-21D-A10M-09 TCGA-BS-A0U9-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 82be6087-a491-42d4-9b48-6a10d1bace18 814cf72d-a67e-441e-91da-fe8f74f53b94 NM_015260.1 +1 provisional p.V1148M 0.567 87 0% 121 43% 70 47.1% probably_damaging(0.99) deleterious(0.04) deleterious(0.790) NULL CHST8 64377 genome.wustl.edu 37 19 34263543 34263543 + Missense_Mutation SNP G G A novel TCGA-BS-A0U9-01B-21D-A10M-09 TCGA-BS-A0U9-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 82be6087-a491-42d4-9b48-6a10d1bace18 814cf72d-a67e-441e-91da-fe8f74f53b94 NM_001127895.1 +1 validated p.G284S 1.000 58 0% 101 45.5% 8 12.5% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Sulfotransfer_2 KLK4 9622 genome.wustl.edu 37 19 51410312 51410312 + Missense_Mutation SNP C C T novel TCGA-BS-A0U9-01B-21D-A10M-09 TCGA-BS-A0U9-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 82be6087-a491-42d4-9b48-6a10d1bace18 814cf72d-a67e-441e-91da-fe8f74f53b94 NM_004917.3 -1 reviewed p.G215R 0.018 49 0% 96 46.9% 0 - possibly_damaging(0.846) tolerated(0.13) deleterious(0.578) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases ZNF808 388558 genome.wustl.edu 37 19 53057650 53057650 + Missense_Mutation SNP G G T rs149957912 by1000genomes TCGA-BS-A0U9-01B-21D-A10M-09 TCGA-BS-A0U9-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 82be6087-a491-42d4-9b48-6a10d1bace18 814cf72d-a67e-441e-91da-fe8f74f53b94 NM_001039886.3 +1 validated p.R494L 0.000 112 0% 98 46.9% 4 0% possibly_damaging(0.588) tolerated(0.64) neutral(0.206) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers FAM71E2 284418 genome.wustl.edu 37 19 55866692 55866692 + Silent SNP G G C novel TCGA-BS-A0U9-01B-21D-A10M-09 TCGA-BS-A0U9-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 82be6087-a491-42d4-9b48-6a10d1bace18 814cf72d-a67e-441e-91da-fe8f74f53b94 NM_001145402.1 -1 predicted p.S915 0.000 94 0% 130 24.6% 0 - - - - NULL GZF1 64412 genome.wustl.edu 37 20 23346056 23346056 + Missense_Mutation SNP G G A novel TCGA-BS-A0U9-01B-21D-A10M-09 TCGA-BS-A0U9-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 82be6087-a491-42d4-9b48-6a10d1bace18 814cf72d-a67e-441e-91da-fe8f74f53b94 NM_022482.3 +1 validated p.V346M 0.042 15 0% 22 36.4% 9 33.3% possibly_damaging(0.801) deleterious(0.05) deleterious(0.647) superfamily_C2H2 and C2HC zinc fingers SALL4 57167 genome.wustl.edu 37 20 50406731 50406731 + Missense_Mutation SNP G G A novel TCGA-BS-A0U9-01B-21D-A10M-09 TCGA-BS-A0U9-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 82be6087-a491-42d4-9b48-6a10d1bace18 814cf72d-a67e-441e-91da-fe8f74f53b94 NM_020436.3 -1 reviewed p.S764F 0.382 102 0% 241 33.2% 10 20% probably_damaging(0.958) tolerated(0.16) neutral(0.461) NULL DOPEY2 9980 genome.wustl.edu 37 21 37618828 37618850 + Frame_Shift_Del DEL CGGCCTGGGTGAGCTTGGTCACG CGGCCTGGGTGAGCTTGGTCACG - novel TCGA-BS-A0U9-01B-21D-A10M-09 TCGA-BS-A0U9-10A-01D-A10M-09 CGGCCTGGGTGAGCTTGGTCACG CGGCCTGGGTGAGCTTGGTCACG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 82be6087-a491-42d4-9b48-6a10d1bace18 814cf72d-a67e-441e-91da-fe8f74f53b94 NM_005128.2 +1 validated p.A1518fs 1.000:0.000:0.964:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.463:0.487:0.537:0.412:0.346:0.999:1.000:1.000:1.000:1.000:1.000:0.992:0.000 - - - - - - - - - NULL TRIOBP 11078 genome.wustl.edu 37 22 38106483 38106483 + Missense_Mutation SNP G G C novel TCGA-BS-A0U9-01B-21D-A10M-09 TCGA-BS-A0U9-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 82be6087-a491-42d4-9b48-6a10d1bace18 814cf72d-a67e-441e-91da-fe8f74f53b94 NM_001039141.2 +1 reviewed p.R55P 0.282 69 0% 39 89.7% 6 100% probably_damaging(0.992) deleterious(0) deleterious(0.892) NULL GNL3L 54552 genome.wustl.edu 37 X 54570742 54570742 + Missense_Mutation SNP C C A novel TCGA-BS-A0U9-01B-21D-A10M-09 TCGA-BS-A0U9-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 82be6087-a491-42d4-9b48-6a10d1bace18 814cf72d-a67e-441e-91da-fe8f74f53b94 NM_019067.5 +1 reviewed p.H205N 1.000 192 0.5% 99 21.2% 4 0% benign(0.012) tolerated(0.45) neutral(0.013) superfamily_SSF52540 GNL3L 54552 genome.wustl.edu 37 X 54570743 54570743 + Missense_Mutation SNP A A T novel TCGA-BS-A0U9-01B-21D-A10M-09 TCGA-BS-A0U9-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 82be6087-a491-42d4-9b48-6a10d1bace18 814cf72d-a67e-441e-91da-fe8f74f53b94 NM_019067.5 +1 reviewed p.H205L 1.000 190 0% 100 22% 4 0% benign(0.012) tolerated(0.25) neutral(0.037) superfamily_SSF52540 SAGE1 55511 genome.wustl.edu 37 X 134992697 134992697 + Missense_Mutation SNP C C A novel TCGA-BS-A0U9-01B-21D-A10M-09 TCGA-BS-A0U9-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 82be6087-a491-42d4-9b48-6a10d1bace18 814cf72d-a67e-441e-91da-fe8f74f53b94 NM_018666.2 +1 reviewed p.T663K 0.000 350 0% 112 20.5% 0 - benign(0.026) deleterious(0.04) neutral(0.350) NULL ATP2B3 492 genome.wustl.edu 37 X 152806995 152806995 + Silent SNP G G A novel TCGA-BS-A0U9-01B-21D-A10M-09 TCGA-BS-A0U9-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 82be6087-a491-42d4-9b48-6a10d1bace18 814cf72d-a67e-441e-91da-fe8f74f53b94 NM_001001344.2 +1 reviewed p.P129 0.005 135 0% 189 27.5% 0 - - - - superfamily_Calcium ATPase transmembrane domain M