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 MTHFR 4524 genome.wustl.edu 37 1 11854000 11854000 + Silent SNP C C G novel TCGA-AX-A2H5-01A-11D-A17D-09 TCGA-AX-A2H5-11A-11D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a52d1245-deee-43b0-a66d-2e4d6c7ccc0e af172f1e-dace-49e8-b0e6-1123b351ab65 NM_005957.4 -1 reviewed p.V498 1.000 21 0% 38 26.3% - - - - - NULL VPS13D 55187 genome.wustl.edu 37 1 12382011 12382011 + Missense_Mutation SNP C C G novel TCGA-AX-A2H5-01A-11D-A17D-09 TCGA-AX-A2H5-11A-11D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a52d1245-deee-43b0-a66d-2e4d6c7ccc0e af172f1e-dace-49e8-b0e6-1123b351ab65 NM_015378.2 +1 reviewed p.P2565R 1.000 41 0% 48 25% - - possibly_damaging(0.456) tolerated(0.57) neutral(0.155) NULL PUM1 9698 genome.wustl.edu 37 1 31409607 31409607 + Missense_Mutation SNP C C T novel TCGA-AX-A2H5-01A-11D-A17D-09 TCGA-AX-A2H5-11A-11D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a52d1245-deee-43b0-a66d-2e4d6c7ccc0e af172f1e-dace-49e8-b0e6-1123b351ab65 NM_001020658.1 -1 reviewed p.M1106I 1.000 53 0% 58 29.3% - - benign(0.001) tolerated(0.29) neutral(0.029) superfamily_ARM repeat KIAA1522 57648 genome.wustl.edu 37 1 33235325 33235325 + Missense_Mutation SNP G G T novel TCGA-AX-A2H5-01A-11D-A17D-09 TCGA-AX-A2H5-11A-11D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a52d1245-deee-43b0-a66d-2e4d6c7ccc0e af172f1e-dace-49e8-b0e6-1123b351ab65 NM_020888.2 +1 validated p.R213L 0.461 20 0% 22 27.3% - - probably_damaging(0.996) - - NULL CLSPN 63967 genome.wustl.edu 37 1 36204805 36204805 + Missense_Mutation SNP T T G novel TCGA-AX-A2H5-01A-11D-A17D-09 TCGA-AX-A2H5-11A-11D-A17D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a52d1245-deee-43b0-a66d-2e4d6c7ccc0e af172f1e-dace-49e8-b0e6-1123b351ab65 NM_022111.2 -1 reviewed p.Y1121S 1.000 57 0% 103 63.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL SLC5A9 200010 genome.wustl.edu 37 1 48703475 48703475 + Missense_Mutation SNP G G A novel TCGA-AX-A2H5-01A-11D-A17D-09 TCGA-AX-A2H5-11A-11D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a52d1245-deee-43b0-a66d-2e4d6c7ccc0e af172f1e-dace-49e8-b0e6-1123b351ab65 NM_001135181.1 +1 validated p.A498T 0.978 53 0% 50 42% - - benign(0.007) tolerated(0.08) neutral(0.300) HMMPfam_SSF PRELP 5549 genome.wustl.edu 37 1 203452383 203452383 + Missense_Mutation SNP G G C novel TCGA-AX-A2H5-01A-11D-A17D-09 TCGA-AX-A2H5-11A-11D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a52d1245-deee-43b0-a66d-2e4d6c7ccc0e af172f1e-dace-49e8-b0e6-1123b351ab65 NM_002725.3 +1 reviewed p.R24T 0.433 10 0% 23 52.2% - - benign(0.014) tolerated(0.15) neutral(0.241) NULL PSD4 23550 genome.wustl.edu 37 2 113956734 113956734 + Missense_Mutation SNP G G A novel TCGA-AX-A2H5-01A-11D-A17D-09 TCGA-AX-A2H5-11A-11D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a52d1245-deee-43b0-a66d-2e4d6c7ccc0e af172f1e-dace-49e8-b0e6-1123b351ab65 ENST00000409378 +1 known p.C113Y 0.011 3 0.000 16 0.938 - - unknown(0) deleterious(0) - NULL DLX2 1746 genome.wustl.edu 37 2 172966196 172966196 + Missense_Mutation SNP C C A novel TCGA-AX-A2H5-01A-11D-A17D-09 TCGA-AX-A2H5-11A-11D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a52d1245-deee-43b0-a66d-2e4d6c7ccc0e af172f1e-dace-49e8-b0e6-1123b351ab65 NM_004405.3 -1 reviewed p.Q193H 1.000 10 0% 20 35% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like,PatternScan_HOMEOBOX_1 CPS1 1373 genome.wustl.edu 37 2 211518806 211518806 + Missense_Mutation SNP G G A novel TCGA-AX-A2H5-01A-11D-A17D-09 TCGA-AX-A2H5-11A-11D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a52d1245-deee-43b0-a66d-2e4d6c7ccc0e af172f1e-dace-49e8-b0e6-1123b351ab65 NM_001122633.1 +1 reviewed p.A1186T 1.000 74 0% 87 44.8% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_Glutathione synthetase ATP-binding domain-like GOLGB1 2804 genome.wustl.edu 37 3 121410554 121410554 + Missense_Mutation SNP C C T novel TCGA-AX-A2H5-01A-11D-A17D-09 TCGA-AX-A2H5-11A-11D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a52d1245-deee-43b0-a66d-2e4d6c7ccc0e af172f1e-dace-49e8-b0e6-1123b351ab65 NM_004487.3 -1 validated p.D2548N 1.000 62 0% 128 22.7% - - probably_damaging(1) tolerated(0.06) deleterious(0.823) NULL TMEM212 389177 genome.wustl.edu 37 3 171569799 171569799 + Missense_Mutation SNP T T G novel TCGA-AX-A2H5-01A-11D-A17D-09 TCGA-AX-A2H5-11A-11D-A17D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a52d1245-deee-43b0-a66d-2e4d6c7ccc0e af172f1e-dace-49e8-b0e6-1123b351ab65 ENST00000334567 +1 known p.L63V 0.000 66 0% 118 34.7% - - possibly_damaging(0.558) deleterious(0) deleterious(0.635) NULL EHHADH 1962 genome.wustl.edu 37 3 184971805 184971805 + Silent SNP G G C novel TCGA-AX-A2H5-01A-11D-A17D-09 TCGA-AX-A2H5-11A-11D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a52d1245-deee-43b0-a66d-2e4d6c7ccc0e af172f1e-dace-49e8-b0e6-1123b351ab65 NM_001966.3 -1 reviewed p.A2 0.964 20 0% 36 41.7% - - - - - superfamily_SSF52096 RFC1 5981 genome.wustl.edu 37 4 39293387 39293389 + In_Frame_Del DEL CTC CTC - novel TCGA-AX-A2H5-01A-11D-A17D-09 TCGA-AX-A2H5-11A-11D-A17D-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a52d1245-deee-43b0-a66d-2e4d6c7ccc0e af172f1e-dace-49e8-b0e6-1123b351ab65 NM_002913.3 -1 reviewed p.G1013in_frame_del 0.224:0.226:0.999 - - - - - - - - - HMMPfam_RFC1 PRSS12 8492 genome.wustl.edu 37 4 119204151 119204151 + Missense_Mutation SNP G G C novel TCGA-AX-A2H5-01A-11D-A17D-09 TCGA-AX-A2H5-11A-11D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a52d1245-deee-43b0-a66d-2e4d6c7ccc0e af172f1e-dace-49e8-b0e6-1123b351ab65 NM_003619.2 -1 reviewed p.R719G 0.837 67 0% 69 58% - - benign(0.192) deleterious(0) neutral(0.463) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases GALNT7 51809 genome.wustl.edu 37 4 174203622 174203623 + Splice_Site INS - - T novel TCGA-AX-A2H5-01A-11D-A17D-09 TCGA-AX-A2H5-11A-11D-A17D-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a52d1245-deee-43b0-a66d-2e4d6c7ccc0e af172f1e-dace-49e8-b0e6-1123b351ab65 ENST00000502407 +1 known NULL 0.050:0.152 - - - - - - - - - - SV2C 22987 genome.wustl.edu 37 5 75587594 75587594 + Missense_Mutation SNP T T G novel TCGA-AX-A2H5-01A-11D-A17D-09 TCGA-AX-A2H5-11A-11D-A17D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a52d1245-deee-43b0-a66d-2e4d6c7ccc0e af172f1e-dace-49e8-b0e6-1123b351ab65 NM_014979.1 +1 provisional p.I417S 1.000 76 0% 85 47.1% - - probably_damaging(0.988) deleterious(0) deleterious(0.882) HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter PDE8B 8622 genome.wustl.edu 37 5 76721598 76721598 + Missense_Mutation SNP G G A novel TCGA-AX-A2H5-01A-11D-A17D-09 TCGA-AX-A2H5-11A-11D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a52d1245-deee-43b0-a66d-2e4d6c7ccc0e af172f1e-dace-49e8-b0e6-1123b351ab65 NM_003719.2 +1 validated p.E809K 1.000 39 0% 68 30.9% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_PDEase_I,superfamily_HD-domain/PDEase-like SLC12A2 6558 genome.wustl.edu 37 5 127514260 127514260 + Missense_Mutation SNP A A T novel TCGA-AX-A2H5-01A-11D-A17D-09 TCGA-AX-A2H5-11A-11D-A17D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a52d1245-deee-43b0-a66d-2e4d6c7ccc0e af172f1e-dace-49e8-b0e6-1123b351ab65 NM_001046.2 +1 validated p.E993D 0.997 52 0% 81 42% - - benign(0) tolerated(0.66) neutral(0.003) NULL PCDHB12 56124 genome.wustl.edu 37 5 140590188 140590188 + Missense_Mutation SNP C C T novel TCGA-AX-A2H5-01A-11D-A17D-09 TCGA-AX-A2H5-11A-11D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a52d1245-deee-43b0-a66d-2e4d6c7ccc0e af172f1e-dace-49e8-b0e6-1123b351ab65 NM_018932.3 +1 reviewed p.A570V 0.033 19 0% 28 39.3% - - benign(0.008) deleterious(0.03) neutral(0.364) superfamily_Cadherin HIST1H2AM 8336 genome.wustl.edu 37 6 27860583 27860584 + Frame_Shift_Ins INS - - AC novel TCGA-AX-A2H5-01A-11D-A17D-09 TCGA-AX-A2H5-11A-11D-A17D-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a52d1245-deee-43b0-a66d-2e4d6c7ccc0e af172f1e-dace-49e8-b0e6-1123b351ab65 NM_003514.2 -1 reviewed p.L116fs 1.000:1.000 - - - - - - - - - HMMSmart_SM00414,superfamily_Histone-fold MAS1L 116511 genome.wustl.edu 37 6 29454573 29454573 + Silent SNP G G T novel TCGA-AX-A2H5-01A-11D-A17D-09 TCGA-AX-A2H5-11A-11D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a52d1245-deee-43b0-a66d-2e4d6c7ccc0e af172f1e-dace-49e8-b0e6-1123b351ab65 NM_052967.1 -1 provisional p.P369 0.002 59 0% 78 38.5% - - - - - NULL FAM135A 57579 genome.wustl.edu 37 6 71233761 71233761 + Missense_Mutation SNP G G C novel TCGA-AX-A2H5-01A-11D-A17D-09 TCGA-AX-A2H5-11A-11D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a52d1245-deee-43b0-a66d-2e4d6c7ccc0e af172f1e-dace-49e8-b0e6-1123b351ab65 NM_001105531.2 +1 validated p.D399H 1.000 50 0% 58 55.2% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL UFL1 23376 genome.wustl.edu 37 6 96974288 96974288 + Missense_Mutation SNP C C T novel TCGA-AX-A2H5-01A-11D-A17D-09 TCGA-AX-A2H5-11A-11D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a52d1245-deee-43b0-a66d-2e4d6c7ccc0e af172f1e-dace-49e8-b0e6-1123b351ab65 NM_015323.4 +1 validated p.L148F 1.000 79 0% 76 48.7% - - possibly_damaging(0.565) deleterious(0) deleterious(0.637) HMMPfam_DUF2042 HOXA1 3198 genome.wustl.edu 37 7 27134370 27134370 + Missense_Mutation SNP G G A novel TCGA-AX-A2H5-01A-11D-A17D-09 TCGA-AX-A2H5-11A-11D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a52d1245-deee-43b0-a66d-2e4d6c7ccc0e af172f1e-dace-49e8-b0e6-1123b351ab65 NM_005522.4 -1 reviewed p.R233C 1.000 49 0% 62 58.1% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like POLM 27434 genome.wustl.edu 37 7 44119984 44119984 + Missense_Mutation SNP T T C rs143971135 by1000genomes TCGA-AX-A2H5-01A-11D-A17D-09 TCGA-AX-A2H5-11A-11D-A17D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a52d1245-deee-43b0-a66d-2e4d6c7ccc0e af172f1e-dace-49e8-b0e6-1123b351ab65 ENST00000445616 -1 known p.I153M 0.001 1 0.000 4 1.000 - - benign(0.022) - - NULL ENSG00000245043 0 genome.wustl.edu 37 7 64534207 64534208 + RNA DEL TG TG - rs147092229 TCGA-AX-A2H5-01A-11D-A17D-09 TCGA-AX-A2H5-11A-11D-A17D-09 TG TG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a52d1245-deee-43b0-a66d-2e4d6c7ccc0e af172f1e-dace-49e8-b0e6-1123b351ab65 ENST00000501153 -1 known NULL 1.000:1.000 - - - - - - - - - - POLR2J 5439 genome.wustl.edu 37 7 102119254 102119256 + Splice_Site DEL CTT CTT - novel TCGA-AX-A2H5-01A-11D-A17D-09 TCGA-AX-A2H5-11A-11D-A17D-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a52d1245-deee-43b0-a66d-2e4d6c7ccc0e af172f1e-dace-49e8-b0e6-1123b351ab65 NM_006234.4 -1 reviewed e2-1 1.000:1.000:1.000 - - - - - - - - - - RELN 5649 genome.wustl.edu 37 7 103237001 103237001 + Missense_Mutation SNP G G C novel TCGA-AX-A2H5-01A-11D-A17D-09 TCGA-AX-A2H5-11A-11D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a52d1245-deee-43b0-a66d-2e4d6c7ccc0e af172f1e-dace-49e8-b0e6-1123b351ab65 NM_005045.3 -1 reviewed p.D1147E 1.000 53 0% 39 64.1% - - possibly_damaging(0.942) tolerated(0.31) neutral(0.414) NULL IMPDH1 3614 genome.wustl.edu 37 7 128036662 128036662 + Missense_Mutation SNP G G A novel TCGA-AX-A2H5-01A-11D-A17D-09 TCGA-AX-A2H5-11A-11D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a52d1245-deee-43b0-a66d-2e4d6c7ccc0e af172f1e-dace-49e8-b0e6-1123b351ab65 NM_000883.3 -1 reviewed p.T418I 1.000 29 0% 25 20% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_IMPDH,PatternScan_IMP_DH_GMP_RED,superfamily_SSF51412 ZNF212 7988 genome.wustl.edu 37 7 148947810 148947810 + Silent SNP C C T novel TCGA-AX-A2H5-01A-11D-A17D-09 TCGA-AX-A2H5-11A-11D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a52d1245-deee-43b0-a66d-2e4d6c7ccc0e af172f1e-dace-49e8-b0e6-1123b351ab65 ENST00000488917 +1 known p.R4* 0.058 69 0% 53 58.5% - - - - - HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) PHYHIP 9796 genome.wustl.edu 37 8 22078985 22078985 + Missense_Mutation SNP C C T novel TCGA-AX-A2H5-01A-11D-A17D-09 TCGA-AX-A2H5-11A-11D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a52d1245-deee-43b0-a66d-2e4d6c7ccc0e af172f1e-dace-49e8-b0e6-1123b351ab65 NM_001099335.1 -1 validated p.V292I 0.998 30 0% 11 100% - - possibly_damaging(0.646) tolerated(0.29) neutral(0.256) NULL CNTNAP3 79937 genome.wustl.edu 37 9 39086755 39086755 + Missense_Mutation SNP G G T novel TCGA-AX-A2H5-01A-11D-A17D-09 TCGA-AX-A2H5-11A-11D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a52d1245-deee-43b0-a66d-2e4d6c7ccc0e af172f1e-dace-49e8-b0e6-1123b351ab65 NM_033655.3 -1 reviewed p.H1104Q 0.523 97 0% 75 18.7% - - benign(0.015) deleterious(0) neutral(0.445) HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 ITGA8 8516 genome.wustl.edu 37 10 15697357 15697357 + Missense_Mutation SNP C C T novel TCGA-AX-A2H5-01A-11D-A17D-09 TCGA-AX-A2H5-11A-11D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a52d1245-deee-43b0-a66d-2e4d6c7ccc0e af172f1e-dace-49e8-b0e6-1123b351ab65 NM_003638.1 -1 provisional p.D333N 1.000 43 0% 60 60% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_FG-GAP,HMMSmart_Int_alpha,superfamily_SSF69318 RSU1 6251 genome.wustl.edu 37 10 16794564 16794564 + Missense_Mutation SNP C C T novel TCGA-AX-A2H5-01A-11D-A17D-09 TCGA-AX-A2H5-11A-11D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a52d1245-deee-43b0-a66d-2e4d6c7ccc0e af172f1e-dace-49e8-b0e6-1123b351ab65 NM_012425.3 -1 reviewed p.R191H 1.000 19 0% 32 31.2% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_LRR_1,HMMSmart_LRR_TYP,superfamily_SSF52058 OR51V1 283111 genome.wustl.edu 37 11 5221439 5221442 + Frame_Shift_Del DEL AAAG AAAG - rs150098602 by1000genomes TCGA-AX-A2H5-01A-11D-A17D-09 TCGA-AX-A2H5-11A-11D-A17D-09 AAAG AAAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a52d1245-deee-43b0-a66d-2e4d6c7ccc0e af172f1e-dace-49e8-b0e6-1123b351ab65 NM_001004760.2 -1 validated p.F163fs 0.000:0.001:0.000:0.000 - - - - - - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like PTPRQ 374462 genome.wustl.edu 37 12 81014104 81014104 + Missense_Mutation SNP G G C novel TCGA-AX-A2H5-01A-11D-A17D-09 TCGA-AX-A2H5-11A-11D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a52d1245-deee-43b0-a66d-2e4d6c7ccc0e af172f1e-dace-49e8-b0e6-1123b351ab65 ENST00000266688 +1 known p.G1854A 0.991 24 0% 51 15.7% - - probably_damaging(0.979) tolerated(0.25) neutral(0.459) NULL KIAA1033 23325 genome.wustl.edu 37 12 105520916 105520916 + Missense_Mutation SNP A A T novel TCGA-AX-A2H5-01A-11D-A17D-09 TCGA-AX-A2H5-11A-11D-A17D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a52d1245-deee-43b0-a66d-2e4d6c7ccc0e af172f1e-dace-49e8-b0e6-1123b351ab65 NM_015275.1 +1 validated p.I350F 1.000 32 0% 83 65.1% - - benign(0.006) tolerated(0.1) neutral(0.286) NULL GSX1 219409 genome.wustl.edu 37 13 28368041 28368043 + In_Frame_Del DEL TCC TCC - novel TCGA-AX-A2H5-01A-11D-A17D-09 TCGA-AX-A2H5-11A-11D-A17D-09 TCC TCC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a52d1245-deee-43b0-a66d-2e4d6c7ccc0e af172f1e-dace-49e8-b0e6-1123b351ab65 NM_145657.1 +1 provisional p.S253in_frame_del 1.000:1.000:0.998 - - - - - - - - - NULL TTLL5 23093 genome.wustl.edu 37 14 76232563 76232563 + Missense_Mutation SNP A A T novel TCGA-AX-A2H5-01A-11D-A17D-09 TCGA-AX-A2H5-11A-11D-A17D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a52d1245-deee-43b0-a66d-2e4d6c7ccc0e af172f1e-dace-49e8-b0e6-1123b351ab65 NM_015072.4 +1 reviewed p.T623S 0.199 31 0% 41 61% - - benign(0.044) tolerated(0.37) neutral(0.021) NULL BUB1B 701 genome.wustl.edu 37 15 40457304 40457304 + Missense_Mutation SNP T T A novel TCGA-AX-A2H5-01A-11D-A17D-09 TCGA-AX-A2H5-11A-11D-A17D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a52d1245-deee-43b0-a66d-2e4d6c7ccc0e af172f1e-dace-49e8-b0e6-1123b351ab65 NM_001211.5 +1 reviewed p.V29E 1.000 32 0% 35 42.9% - - possibly_damaging(0.5) deleterious(0) deleterious(0.612) NULL RPAP1 26015 genome.wustl.edu 37 15 41828368 41828368 + Missense_Mutation SNP C C T novel TCGA-AX-A2H5-01A-11D-A17D-09 TCGA-AX-A2H5-11A-11D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a52d1245-deee-43b0-a66d-2e4d6c7ccc0e af172f1e-dace-49e8-b0e6-1123b351ab65 NM_015540.2 -1 reviewed p.V127I 0.142 55 0% 48 37.5% - - benign(0.106) tolerated(0.55) neutral(0.015) NULL HERC1 8925 genome.wustl.edu 37 15 63961737 63961737 + Missense_Mutation SNP C C T novel TCGA-AX-A2H5-01A-11D-A17D-09 TCGA-AX-A2H5-11A-11D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a52d1245-deee-43b0-a66d-2e4d6c7ccc0e af172f1e-dace-49e8-b0e6-1123b351ab65 NM_003922.3 -1 reviewed p.A2736T 1.000 23 0% 40 47.5% - - possibly_damaging(0.815) - - NULL SETD1A 9739 genome.wustl.edu 37 16 30995306 30995306 + Silent SNP C C T novel TCGA-AX-A2H5-01A-11D-A17D-09 TCGA-AX-A2H5-11A-11D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a52d1245-deee-43b0-a66d-2e4d6c7ccc0e af172f1e-dace-49e8-b0e6-1123b351ab65 NM_014712.1 +1 provisional p.L1696 0.994 20 0% 40 25% - - - - - HMMSmart_PostSET,superfamily_SSF82199 WWOX 51741 genome.wustl.edu 37 16 79245873 79245874 + Frame_Shift_Ins INS - - GTAAA novel TCGA-AX-A2H5-01A-11D-A17D-09 TCGA-AX-A2H5-11A-11D-A17D-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a52d1245-deee-43b0-a66d-2e4d6c7ccc0e af172f1e-dace-49e8-b0e6-1123b351ab65 ENST00000402655 +1 known p.S263fs 0.036:0.005 - - - - - - - - - NULL SLC52A1 55065 genome.wustl.edu 37 17 4936803 4936818 + Frame_Shift_Del DEL GGCAAGGGGGTTGGCG GGCAAGGGGGTTGGCG - novel TCGA-AX-A2H5-01A-11D-A17D-09 TCGA-AX-A2H5-11A-11D-A17D-09 GGCAAGGGGGTTGGCG GGCAAGGGGGTTGGCG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a52d1245-deee-43b0-a66d-2e4d6c7ccc0e af172f1e-dace-49e8-b0e6-1123b351ab65 NM_001104577.1 -1 validated p.N324fs 1.000:1.000:1.000:0.987:0.980:0.911:0.928:0.999:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.951 - - - - - - - - - HMMPfam_DUF1011 TP53 7157 genome.wustl.edu 37 17 7577141 7577141 + Missense_Mutation SNP C C A novel TCGA-AX-A2H5-01A-11D-A17D-09 TCGA-AX-A2H5-11A-11D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a52d1245-deee-43b0-a66d-2e4d6c7ccc0e af172f1e-dace-49e8-b0e6-1123b351ab65 NM_000546.4 -1 reviewed p.G266V 1.000 36 0% 47 95.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_p53-like transcription factors,HMMPfam_P53 SLC38A10 124565 genome.wustl.edu 37 17 79225015 79225075 + Frame_Shift_Del DEL TTTAAAGGGGAGCAAGGGAGATAAAACGGTAATCACAAGCCATGTGACGATGCCGCAGGTG TTTAAAGGGGAGCAAGGGAGATAAAACGGTAATCACAAGCCATGTGACGATGCCGCAGGTG - novel TCGA-AX-A2H5-01A-11D-A17D-09 TCGA-AX-A2H5-11A-11D-A17D-09 TTTAAAGGGGAGCAAGGGAGATAAAACGGTAATCACAAGCCATGTGACGATGCCGCAGGTG TTTAAAGGGGAGCAAGGGAGATAAAACGGTAATCACAAGCCATGTGACGATGCCGCAGGTG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a52d1245-deee-43b0-a66d-2e4d6c7ccc0e af172f1e-dace-49e8-b0e6-1123b351ab65 NM_138570.2 -1 validated p.H762fs 0.002:0.004:0.002:0.002:0.001:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.003:0.042:0.255:0.328:0.327:0.277:0.004:0.001:0.001:0.001:0.016:0.018:0.004:0.003:0.001:0.002:0.003:0.004:0.003:0.003:0.004:0.006:0.010:0.021:0.037:0.045:0.046:0.043:0.045:0.049:0.048:0.050:0.047:0.049:0.046:0.006:0.007:0.010:0.010:0.005:0.002:0.001:0.000:0.000:0.000:0.000:0.000 - - - - - - - - - NULL LAMA1 284217 genome.wustl.edu 37 18 6956505 6956516 + In_Frame_Del DEL CAGCTCCAGCTC CAGCTCCAGCTC - rs11270496 byCluster;by1000genomes TCGA-AX-A2H5-01A-11D-A17D-09 TCGA-AX-A2H5-11A-11D-A17D-09 CAGCTCCAGCTC CAGCTCCAGCTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a52d1245-deee-43b0-a66d-2e4d6c7ccc0e af172f1e-dace-49e8-b0e6-1123b351ab65 ENST00000344342 -1 known p.GAGA189in_frame_del 0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.002:0.001:0.000:0.000 - - - - - - - - - NULL TJP3 27134 genome.wustl.edu 37 19 3743959 3743959 + Silent SNP G G A novel TCGA-AX-A2H5-01A-11D-A17D-09 TCGA-AX-A2H5-11A-11D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a52d1245-deee-43b0-a66d-2e4d6c7ccc0e af172f1e-dace-49e8-b0e6-1123b351ab65 NM_014428.1 +1 provisional p.V655 0.996 54 0% 36 11.1% - - - - - HMMSmart_SM00072,superfamily_P-loop containing nucleoside triphosphate hydrolases FBXO17 115290 genome.wustl.edu 37 19 39433382 39433382 + Missense_Mutation SNP C C T novel TCGA-AX-A2H5-01A-11D-A17D-09 TCGA-AX-A2H5-11A-11D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a52d1245-deee-43b0-a66d-2e4d6c7ccc0e af172f1e-dace-49e8-b0e6-1123b351ab65 NM_148169.1 -1 reviewed p.V244I 0.981 13 0% 17 76.5% - - possibly_damaging(0.484) deleterious(0) deleterious(0.605) HMMPfam_FBA,superfamily_Galactose-binding domain-like CHGB 1114 genome.wustl.edu 37 20 5903841 5903841 + Missense_Mutation SNP G G A novel TCGA-AX-A2H5-01A-11D-A17D-09 TCGA-AX-A2H5-11A-11D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a52d1245-deee-43b0-a66d-2e4d6c7ccc0e af172f1e-dace-49e8-b0e6-1123b351ab65 NM_001819.2 +1 reviewed p.V351I 0.000 11 0% 30 46.7% - - benign(0) tolerated(0.82) neutral(0.001) HMMPfam_Granin PDXK 8566 genome.wustl.edu 37 21 45163688 45163688 + Missense_Mutation SNP G G A novel TCGA-AX-A2H5-01A-11D-A17D-09 TCGA-AX-A2H5-11A-11D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a52d1245-deee-43b0-a66d-2e4d6c7ccc0e af172f1e-dace-49e8-b0e6-1123b351ab65 NM_003681.4 +1 reviewed p.V111M 1.000 35 0% 90 14.4% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_Ribokinase-like TRAPPC10 7109 genome.wustl.edu 37 21 45499917 45499917 + Silent SNP C C T novel TCGA-AX-A2H5-01A-11D-A17D-09 TCGA-AX-A2H5-11A-11D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a52d1245-deee-43b0-a66d-2e4d6c7ccc0e af172f1e-dace-49e8-b0e6-1123b351ab65 NM_003274.4 +1 reviewed p.L544 0.004 38 0% 102 24.5% - - - - - NULL CELSR1 9620 genome.wustl.edu 37 22 46762988 46762988 + Missense_Mutation SNP C C T novel TCGA-AX-A2H5-01A-11D-A17D-09 TCGA-AX-A2H5-11A-11D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a52d1245-deee-43b0-a66d-2e4d6c7ccc0e af172f1e-dace-49e8-b0e6-1123b351ab65 NM_014246.1 -1 reviewed p.V2703M 0.994 13 0.000 5 0.800 - - possibly_damaging(0.522) deleterious(0.01) deleterious(0.582) HMMPfam_7tm_2 SMC1A 8243 genome.wustl.edu 37 X 53432009 53432009 + Missense_Mutation SNP G G A novel TCGA-AX-A2H5-01A-11D-A17D-09 TCGA-AX-A2H5-11A-11D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a52d1245-deee-43b0-a66d-2e4d6c7ccc0e af172f1e-dace-49e8-b0e6-1123b351ab65 NM_006306.2 -1 reviewed p.R711W 1.000 35 0% 38 50% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SMC_N,superfamily_SSF52540 HUWE1 10075 genome.wustl.edu 37 X 53585660 53585660 + Missense_Mutation SNP C C T novel TCGA-AX-A2H5-01A-11D-A17D-09 TCGA-AX-A2H5-11A-11D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a52d1245-deee-43b0-a66d-2e4d6c7ccc0e af172f1e-dace-49e8-b0e6-1123b351ab65 NM_031407.4 -1 reviewed p.D2706N 1.000 138 0% 133 50.4% - - unknown(0) deleterious(0.02) - NULL