Mercurial > repos > bgruening > flexynesis
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planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/flexynesis commit b2463fb68d0ae54864d87718ee72f5e063aa4587
author | bgruening |
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date | Tue, 24 Jun 2025 05:55:40 +0000 |
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Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Consequence 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 t_ref_count t_alt_count n_ref_count n_alt_count HGVSc HGVSp HGVSp_Short Transcript_ID RefSeq Protein_position Codons Hotspot gc_content ref_context NOS1 4842 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 12 117669890 117669890 + synonymous_variant Silent SNP G G A TCGA-DU-6394-01 TCGA-DU-6394-10 Untested Somatic Phase_I WXS none Illumina GAIIx 21 19 ENST00000338101.4:c.3384C>T p.Thr1128= p.T1128= ENST00000338101 1128 acC/acT 0 0.592 CCTGGAAGATGGTGCAGGGCG NPAS3 64067 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 14 34263252 34263252 + splice_donor_variant Splice_Site SNP T T G TCGA-DU-6394-01 TCGA-DU-6394-10 Untested Somatic Phase_I WXS none Illumina GAIIx 44 26 ENST00000356141.4:c.1301+2T>G p.X434_splice ENST00000356141 0 0.333 CCTTCTTAGGTATATTTTCTA JAG2 3714 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 14 105615619 105615619 + synonymous_variant Silent SNP G G A TCGA-DU-6394-01 TCGA-DU-6394-10 Untested Somatic Phase_I WXS none Illumina GAIIx 85 48 ENST00000331782.3:c.1641C>T p.Asn547= p.N547= ENST00000331782 NM_002226.4 547 aaC/aaT 0 0.662 AGCGAGCGCCGTTCCGGCAGG ENKD1 84080 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 16 67700039 67700039 + missense_variant Missense_Mutation SNP C C T TCGA-DU-6394-01 TCGA-DU-6394-10 Untested Somatic Phase_I WXS none Illumina GAIIx 52 8 ENST00000243878.4:c.215G>A p.Arg72His p.R72H ENST00000243878 NM_032140.1 72 cGc/cAc 0 0.662 CCCGACGCCGCGCTGGCCGCG FKBP8 23770 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 19 18650228 18650228 + synonymous_variant Silent SNP C C T TCGA-DU-6394-01 TCGA-DU-6394-10 Untested Somatic Phase_I WXS none Illumina GAIIx 50 51 ENST00000608443.1:c.504G>A p.Thr168= p.T168= ENST00000608443 168 acG/acA 0 0.637 TGACCATGGCCGTCTCCCCCA IRF2BP1 26145 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 19 46387378 46387378 + missense_variant Missense_Mutation SNP C C A TCGA-DU-6394-01 TCGA-DU-6394-10 Untested Somatic Phase_I WXS none Illumina GAIIx 4 15 ENST00000302165.3:c.1655G>T p.Cys552Phe p.C552F ENST00000302165 NM_015649.1 552 tGc/tTc 0 0.642 GACCAGCGGGCACTTGTCTCC PHACTR3 116154 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 20 58381107 58381107 + missense_variant Missense_Mutation SNP C C T TCGA-DU-6394-01 TCGA-DU-6394-10 Untested Somatic Phase_I WXS none Illumina GAIIx 287 69 ENST00000371015.1:c.1186C>T p.Arg396Trp p.R396W ENST00000371015 NM_080672.4 396 Cgg/Tgg 0 0.547 AACACTGCCACGGAAATGCAA KRTAP13-1 140258 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 21 31768834 31768834 + missense_variant Missense_Mutation SNP G G A TCGA-DU-6394-01 TCGA-DU-6394-10 Untested Somatic Phase_I WXS none Illumina GAIIx 17 17 ENST00000355459.2:c.430G>A p.Val144Ile p.V144I ENST00000355459 NM_181599.2 144 Gtt/Att 0 0.542 GGGCTATGGCGTTGGATTCTG PWP2 5822 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 21 45540355 45540355 + missense_variant Missense_Mutation SNP G G A TCGA-DU-6394-01 TCGA-DU-6394-10 Untested Somatic Phase_I WXS none Illumina GAIIx 101 81 ENST00000291576.7:c.1315G>A p.Val439Met p.V439M ENST00000291576 NM_005049.2 439 Gtg/Atg 0 0.597 GGACGGGACCGTGCGAGCCTT IDH1 3417 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T rs121913500 TCGA-DU-6394-01 TCGA-DU-6394-10 Untested Somatic Phase_I WXS none Illumina GAIIx 62 26 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 0.393 ATAAGCATGACGACCTATGAT TXK 7294 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 4 48114404 48114404 + synonymous_variant Silent SNP A A G TCGA-DU-6394-01 TCGA-DU-6394-10 Untested Somatic Phase_I WXS none Illumina GAIIx 148 27 ENST00000264316.4:c.300T>C p.Asn100= p.N100= ENST00000264316 NM_003328.2 100 aaT/aaC 0 0.468 TTAAGGCTAAATTACAGGGTT NPY1R 4886 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 4 164247119 164247119 + synonymous_variant Silent SNP G G A TCGA-DU-6394-01 TCGA-DU-6394-10 Untested Somatic Phase_I WXS none Illumina GAIIx 39 35 ENST00000296533.2:c.588C>T p.Tyr196= p.Y196= ENST00000296533 NM_000909.5 196 taC/taT 0 0.408 CAAAGCACACGTATTTGTCTT PLEKHG4B 153478 hgsc.bcm.edu;broad.mit.edu GRCh37 5 143249 143249 + missense_variant Missense_Mutation SNP G G A rs115149634 byFrequency TCGA-DU-6394-01 TCGA-DU-6394-10 Untested Somatic Phase_I WXS none Illumina GAIIx 74 22 ENST00000283426.6:c.497G>A p.Arg166Gln p.R166Q ENST00000283426 NM_052909.3 166 cGg/cAg 0 0.647 GTGCCTGCCCGGCAGCCACAC ZDHHC11 79844 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 5 814876 814876 + missense_variant,splice_region_variant Missense_Mutation SNP C C G rs138424733 TCGA-DU-6394-01 TCGA-DU-6394-10 Untested Somatic Phase_I WXS none Illumina GAIIx 34 26 ENST00000283441.8:c.1181G>C p.Gly394Ala p.G394A ENST00000283441 NM_024786.2 394 gGg/gCg 0 0.378 ACGAACTTACCCAAGTGTAGA DNAH8 1769 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 6 38690599 38690599 + upstream_gene_variant 5'Flank SNP C C T TCGA-DU-6394-01 TCGA-DU-6394-10 Untested Somatic Phase_I WXS none Illumina GAIIx 15 11 ENST00000359357 0 0.532 GAGAAGGATGCTGAAGATGGC THEMIS 387357 hgsc.bcm.edu;broad.mit.edu GRCh37 6 128135074 128135074 + stop_gained,splice_region_variant Nonsense_Mutation SNP G G A TCGA-DU-6394-01 TCGA-DU-6394-10 Untested Somatic Phase_I WXS none Illumina GAIIx 55 40 ENST00000543064.1:c.712C>T p.Arg238Ter p.R238* ENST00000543064 NM_001164685.1 238 Cga/Tga 0 0.333 ATATCTTTTCGAACTAAAAAG ZNF782 158431 hgsc.bcm.edu;broad.mit.edu GRCh37 9 99581580 99581580 + missense_variant Missense_Mutation SNP G G C TCGA-DU-6394-01 TCGA-DU-6394-10 Untested Somatic Phase_I WXS none Illumina GAIIx 92 8 ENST00000481138.1:c.725C>G p.Ser242Cys p.S242C ENST00000481138 NM_001001662.1 242 tCt/tGt 0 0.333 GAAATTGTAAGATTTTCCTTT FRMPD4 9758 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 12701668 12701668 + missense_variant Missense_Mutation SNP C C T TCGA-DU-6394-01 TCGA-DU-6394-10 Untested Somatic Phase_I WXS none Illumina GAIIx 3 28 ENST00000380682.1:c.535C>T p.Arg179Cys p.R179C ENST00000380682 NM_014728.3 179 Cgc/Tgc 0 0.423 TGTCAAAGTACGCTTCTCTGA CEP104 9731 broad.mit.edu;ucsc.edu GRCh37 1 3768869 3768869 + missense_variant Missense_Mutation SNP G G A TCGA-DU-6394-01 TCGA-DU-6394-10 Untested Somatic Phase_I WXS none Illumina GAIIx 21 3 ENST00000378230.3:c.103C>T p.Arg35Trp p.R35W ENST00000378230 NM_014704.3 35 Cgg/Tgg 0 0.622 CTAGGTGACCGCCACCCACTG NF1 4763 broad.mit.edu;ucsc.edu GRCh37 17 29670155 29670155 + splice_donor_variant Splice_Site SNP T T A TCGA-DU-6394-01 TCGA-DU-6394-10 Untested Somatic Phase_I WXS none Illumina GAIIx 36 5 ENST00000358273.4:c.7189+2T>A p.X2397_splice ENST00000358273 NM_001042492.2 0 0.318 TTTTAAAAGGTAAAAAAGCCT HLA-J 3137 broad.mit.edu;ucsc.edu GRCh37 6 29977359 29977359 + non_coding_transcript_exon_variant,non_coding_transcript_variant RNA SNP G G A rs3831361 by1000genomes TCGA-DU-6394-01 TCGA-DU-6394-10 Untested Somatic Phase_I WXS none Illumina GAIIx 47 7 ENST00000462773.1:n.932G>A *311* ENST00000462773 0 0.453 ATTTGTTCATGCCTTCCCTTT TRBV7-6 28592 broad.mit.edu;ucsc.edu GRCh37 7 142139349 142139349 + synonymous_variant Silent SNP G G A TCGA-DU-6394-01 TCGA-DU-6394-10 Untested Somatic Phase_I WXS none Illumina GAIIx 96 26 ENST00000390374.3:c.276C>T p.Ser92= p.S92= ENST00000390374 92 tcC/tcT 0 0.567 GAGTGGAGACGGATCCCTCAG HLA-J 3137 broad.mit.edu;ucsc.edu GRCh37 6 29977358 29977358 + non_coding_transcript_exon_variant,non_coding_transcript_variant RNA SNP T T C rs146982767 by1000genomes TCGA-DU-6394-01 TCGA-DU-6394-10 Untested Somatic Phase_I WXS none Illumina GAIIx 47 7 ENST00000462773.1:n.931T>C *311* ENST00000462773 0 0.448 GATTTGTTCATGCCTTCCCTT NPTX1 4884 broad.mit.edu;ucsc.edu GRCh37 17 78444660 78444660 + missense_variant Missense_Mutation SNP C C T TCGA-DU-6394-01 TCGA-DU-6394-10 Untested Somatic Phase_I WXS none Illumina GAIIx 51 7 ENST00000306773.4:c.1252G>A p.Gly418Arg p.G418R ENST00000306773 NM_002522.3 418 Gga/Aga 0 0.662 GTGGCCCCTCCGTAGATCTCG NT5C 30833 broad.mit.edu;ucsc.edu GRCh37 17 73126675 73126675 + missense_variant Missense_Mutation SNP C C A TCGA-DU-6394-01 TCGA-DU-6394-10 Untested Somatic Phase_I WXS none Illumina GAIIx 47 30 ENST00000245552.2:c.514G>T p.Val172Phe p.V172F ENST00000245552 NM_014595.2 172 Gtc/Ttc 0 0.607 GGGGGCAGGACCAGGTGCCGA SMC4 10051 broad.mit.edu;ucsc.edu GRCh37 3 160137299 160137299 + missense_variant Missense_Mutation SNP T T A TCGA-DU-6394-01 TCGA-DU-6394-10 Untested Somatic Phase_I WXS none Illumina GAIIx 57 35 ENST00000357388.3:c.1825T>A p.Ser609Thr p.S609T ENST00000357388 NM_001002800.1 609 Tct/Act 0 0.343 AGAAAAAAAATCTGGCAGGAT FUBP1 8880 broad.mit.edu;hgsc.bcm.edu GRCh37 1 78433848 78433851 + splice_donor_variant,coding_sequence_variant Splice_Site DEL CAGT CAGT - TCGA-DU-6394-01 TCGA-DU-6394-10 Untested Somatic Phase_I WXS none Illumina GAIIx 11 20 ENST00000370768.2:c.248_250+1delACTG p.X83_splice ENST00000370768 NM_003902.3 83 0 0.319 GGAATACTTACAGTCATTTTGAGG HGD 3081 broad.mit.edu;hgsc.bcm.edu GRCh37 3 120357338 120357338 + frameshift_variant Frame_Shift_Del DEL C C - TCGA-DU-6394-01 TCGA-DU-6394-10 Untested Somatic Phase_I WXS none Illumina GAIIx 92 23 ENST00000283871.5:c.970delG p.Val324LeufsTer16 p.V324Lfs*16 ENST00000283871 NM_000187.3 324 Gtt/tt 0 0.483 TTATCAGCAACCCCCCATCGA WDFY3 23001 broad.mit.edu;hgsc.bcm.edu GRCh37 4 85731329 85731331 + inframe_deletion In_Frame_Del DEL GAA GAA - TCGA-DU-6394-01 TCGA-DU-6394-10 Untested Somatic Phase_I WXS none Illumina GAIIx 51 28 ENST00000295888.4:c.2054_2056delTTC p.Leu685del p.L685del ENST00000295888 NM_014991.4 685 cTTCac/cac 0 0.448 AACACAGTGTGAAGAAGTTCAAA MAN2A1 4124 broad.mit.edu;hgsc.bcm.edu GRCh37 5 109049430 109049433 + frameshift_variant Frame_Shift_Del DEL CTGT CTGT - TCGA-DU-6394-01 TCGA-DU-6394-10 Untested Somatic Phase_I WXS none Illumina GAIIx 133 38 ENST00000261483.4:c.349_352delCTGT p.Phe118LeufsTer19 p.F118Lfs*19 ENST00000261483 NM_002372.2 115 gaCTGT/ga 0 0.407 ACACTGCAGACTGTCTGTTTGCTT HDAC2 3066 broad.mit.edu;hgsc.bcm.edu GRCh37 6 114277842 114277844 + inframe_deletion In_Frame_Del DEL TCT TCT - TCGA-DU-6394-01 TCGA-DU-6394-10 Untested Somatic Phase_I WXS none Illumina GAIIx 16 15 ENST00000519065.1:c.297_299delAGA p.Glu99del p.E99del ENST00000519065 99 gaAGAt/gat 0 0.35 CACTGGACAATCTTCTCCAACAT NOTCH1 4851 broad.mit.edu;hgsc.bcm.edu GRCh37 9 139391997 139391998 + frameshift_variant Frame_Shift_Del DEL AG AG - TCGA-DU-6394-01 TCGA-DU-6394-10 Untested Somatic Phase_I WXS none Illumina GAIIx 14 17 ENST00000277541.6:c.6193_6194delCT p.Leu2065ValfsTer202 p.L2065Vfs*202 ENST00000277541 NM_017617.3 2065 CTg/g 0 0.683 GGCCAGAAACAGGGGTGTCTCC NOTCH1 4851 broad.mit.edu;hgsc.bcm.edu GRCh37 9 139395163 139395166 + frameshift_variant Frame_Shift_Del DEL GTCT GTCT - TCGA-DU-6394-01 TCGA-DU-6394-10 Untested Somatic Phase_I WXS none Illumina GAIIx 136 41 ENST00000277541.6:c.5772_5775delAGAC p.Asp1925AlafsTer55 p.D1925Afs*55 ENST00000277541 NM_017617.3 1924 acAGAC/ac 0 0.686 CGCCCGTGCGGTCTGTCTGGTTGT PHLPP2 23035 broad.mit.edu;hgsc.bcm.edu GRCh37 16 71692597 71692599 + inframe_deletion In_Frame_Del DEL TGT TGT - rs145938775 TCGA-DU-6394-01 TCGA-DU-6394-10 Untested Somatic Phase_I WXS none Illumina GAIIx 133 25 ENST00000568954.1:c.2105_2107delACA p.Asn702del p.N702del ENST00000568954 702 aACAtc/atc 0 0.458 AAAATGCTGATGTTGTTGGAGTG PLIN4 729359 broad.mit.edu;hgsc.bcm.edu GRCh37 19 4510914 4510916 + inframe_deletion In_Frame_Del DEL TGG TGG - TCGA-DU-6394-01 TCGA-DU-6394-10 Untested Somatic Phase_I WXS none Illumina GAIIx 28 22 ENST00000301286.3:c.3014_3016delCCA p.Thr1005del p.T1005del ENST00000301286 NM_001080400.1 1005 aCCAag/aag 0 0.626 AGCACTGTCTTGGTGGTGTCCAG NF1 4763 broad.mit.edu GRCh37 17 29546036 29546037 + frameshift_variant Frame_Shift_Del DEL AG AG - TCGA-DU-6394-01 TCGA-DU-6394-10 Untested Somatic Phase_I WXS none Illumina GAIIx 13 7 ENST00000358273.4:c.1541_1542delAG p.Gln514ArgfsTer43 p.Q514Rfs*43 ENST00000358273 NM_001042492.2 514 cAG/c 0 0.426 CCAAGAAAACAGGGGCCCGAAA PIK3R1 5295 broad.mit.edu GRCh37 5 67591105 67591107 + inframe_deletion In_Frame_Del DEL TAA TAA - TCGA-DU-6394-01 TCGA-DU-6394-10 Untested Somatic Phase_I WXS none Illumina GAIIx 108 16 ENST00000274335.5:c.1698_1700delTAA p.Lys567del p.K567del ENST00000274335 566 atTAAa/ata 0 0.369 TGAACAGCATTAAACCAGACCTT NF1 4763 broad.mit.edu GRCh37 17 29652976 29652979 + frameshift_variant Frame_Shift_Del DEL TCTC TCTC - TCGA-DU-6394-01 TCGA-DU-6394-10 Untested Somatic Phase_I WXS none Illumina GAIIx 168 11 ENST00000358273.4:c.4977_4980delCTCT p.Lys1661GlyfsTer36 p.K1661Gfs*36 ENST00000358273 NM_001042492.2 1658 ttTCTC/tt 0 0.422 AAACAGACTTTCTCTCTAAGTGGT NF1 4763 broad.mit.edu GRCh37 17 29553697 29553697 + stop_gained Nonsense_Mutation SNP C C A TCGA-DU-6394-01 TCGA-DU-6394-10 Untested Somatic Phase_I WXS none Illumina GAIIx 162 7 ENST00000358273.4:c.2246C>A p.Ser749Ter p.S749* ENST00000358273 NM_001042492.2 749 tCa/tAa 0 0.403 AATATGATGTCAACAGGTAAA CUBN 8029 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 10 16992025 16992025 + synonymous_variant Silent SNP G G A TCGA-FG-8187-01 TCGA-FG-8187-10 Untested Somatic Phase_I WXS none Illumina GAIIx 40 16 ENST00000377833.4:c.5055C>T p.Gly1685= p.G1685= ENST00000377833 NM_001081.3 1685 ggC/ggT 0 0.448 CTTCGTGGCCGCCATCCAAAA OR8K1 390157 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 11 56114203 56114203 + missense_variant Missense_Mutation SNP C C T TCGA-FG-8187-01 TCGA-FG-8187-10 Untested Somatic Phase_I WXS none Illumina GAIIx 51 27 ENST00000279783.2:c.689C>T p.Ala230Val p.A230V ENST00000279783 NM_001002907.1 230 gCc/gTc 0 0.383 ATTCTAGTGGCCATTCTCAGA PBX4 80714 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 19 19672911 19672911 + stop_gained Nonsense_Mutation SNP G G A TCGA-FG-8187-01 TCGA-FG-8187-10 Untested Somatic Phase_I WXS none Illumina GAIIx 27 4 ENST00000251203.9:c.1048C>T p.Gln350Ter p.Q350* ENST00000251203 NM_025245.2 350 Cag/Tag 0 0.597 GTGGCCCCCTGCCAGCTACCC FAM89A 375061 hgsc.bcm.edu;broad.mit.edu GRCh37 1 231155648 231155648 + synonymous_variant Silent SNP G G A TCGA-FG-8187-01 TCGA-FG-8187-10 Untested Somatic Phase_I WXS none Illumina GAIIx 58 3 ENST00000366654.4:c.516C>T p.Ser172= p.S172= ENST00000366654 NM_198552.2 172 tcC/tcT 0 0.567 TGGAGAGGGAGGAGACAGGCA RIPK4 54101 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 21 43166845 43166845 + missense_variant Missense_Mutation SNP C C T TCGA-FG-8187-01 TCGA-FG-8187-10 Untested Somatic Phase_I WXS none Illumina GAIIx 96 69 ENST00000332512.3:c.760G>A p.Ala254Thr p.A254T ENST00000332512 NM_020639.2 254 Gcc/Acc 0 0.672 TGGCTGCAGGCGCGCGGCCGG MYO7B 4648 hgsc.bcm.edu;ucsc.edu GRCh37 2 128367552 128367552 + synonymous_variant Silent SNP G G A TCGA-FG-8187-01 TCGA-FG-8187-10 Untested Somatic Phase_I WXS none Illumina GAIIx 33 4 ENST00000428314.1:c.3153G>A p.Glu1051= p.E1051= ENST00000428314 NM_001080527.1 1051 gaG/gaA 0 0.642 TGGGCAGGGAGCACGGTGCCC HOXD3 3232 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 177034190 177034190 + synonymous_variant Silent SNP A A G TCGA-FG-8187-01 TCGA-FG-8187-10 Untested Somatic Phase_I WXS none Illumina GAIIx 44 17 ENST00000468418.3:c.348A>G p.Pro116= p.P116= ENST00000468418 116 ccA/ccG 0 0.642 AGCAGCAGccaccacaacccc ZDBF2 57683 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 207175936 207175936 + synonymous_variant Silent SNP G G A TCGA-FG-8187-01 TCGA-FG-8187-10 Untested Somatic Phase_I WXS none Illumina GAIIx 17 10 ENST00000374423.3:c.6684G>A p.Ser2228= p.S2228= ENST00000374423 NM_020923.1 2228 tcG/tcA 0 0.363 AGTATATTTCGAAATACTCTG IDH1 3417 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T rs121913500 TCGA-FG-8187-01 TCGA-FG-8187-10 Untested Somatic Phase_I WXS none Illumina GAIIx 121 44 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 0.393 ATAAGCATGACGACCTATGAT PIK3CA 5290 hgsc.bcm.edu;broad.mit.edu GRCh37 3 178952085 178952085 + missense_variant Missense_Mutation SNP A A G rs121913279 TCGA-FG-8187-01 TCGA-FG-8187-10 Untested Somatic Phase_I WXS none Illumina GAIIx 109 8 ENST00000263967.3:c.3140A>G p.His1047Arg p.H1047R ENST00000263967 NM_006218.2 1047 cAt/cGt 0 0.378 AATGATGCACATCATGGTGGC CERCAM 51148 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 9 131186792 131186792 + missense_variant Missense_Mutation SNP G G A TCGA-FG-8187-01 TCGA-FG-8187-10 Untested Somatic Phase_I WXS none Illumina GAIIx 69 39 ENST00000372838.4:c.665G>A p.Arg222Gln p.R222Q ENST00000372838 NM_016174.4 222 cGg/cAg 0 0.617 GCATCCCTGCGGGCTGAAGGG KCNQ4 9132 broad.mit.edu;ucsc.edu GRCh37 1 41283890 41283890 + missense_variant Missense_Mutation SNP G G A TCGA-FG-8187-01 TCGA-FG-8187-10 Untested Somatic Phase_I WXS none Illumina GAIIx 58 23 ENST00000347132.5:c.460G>A p.Ala154Thr p.A154T ENST00000347132 NM_004700.3 154 Gcc/Acc 0 0.612 GGTCTGGTCCGCCGGATGCTG SLC9A7P1 121456 broad.mit.edu;ucsc.edu GRCh37 12 98850610 98850610 + non_coding_transcript_exon_variant RNA SNP C C A TCGA-FG-8187-01 TCGA-FG-8187-10 Untested Somatic Phase_I WXS none Illumina GAIIx 15 5 ENST00000554295.1:n.314G>T *105* ENST00000554295 0 0.602 AAAGTGCACCCGGCAGTACTT TEKT1 83659 broad.mit.edu;ucsc.edu GRCh37 17 6703471 6703471 + missense_variant Missense_Mutation SNP C C T TCGA-FG-8187-01 TCGA-FG-8187-10 Untested Somatic Phase_I WXS none Illumina GAIIx 135 12 ENST00000338694.2:c.1132G>A p.Val378Ile p.V378I ENST00000338694 NM_053285.1 378 Gtc/Atc 0 0.527 TTCTCTTTGACCTGGATCTCC GPR114 221188 hgsc.bcm.edu;ucsc.edu GRCh37 16 57601804 57601804 + missense_variant Missense_Mutation SNP C C A rs146006750 TCGA-CS-4938-01 TCGA-CS-4938-10 Untested Somatic Phase_I WXS none Illumina GAIIx 44 5 ENST00000340339.4:c.858C>A p.Asn286Lys p.N286K ENST00000340339 NM_153837.1 286 aaC/aaA 0 0.612 TCCACATGAACCTGCATGCCT TP53 7157 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 7577539 7577539 + missense_variant Missense_Mutation SNP G G A rs121912651 TCGA-CS-4938-01 TCGA-CS-4938-10 Untested Somatic Phase_I WXS none Illumina GAIIx 21 86 ENST00000269305.4:c.742C>T p.Arg248Trp p.R248W ENST00000269305 NM_001126112.2 248 Cgg/Tgg 0 0.577 ATGGGCCTCCGGTTCATGCCG C3 718 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 19 6686853 6686853 + stop_gained Nonsense_Mutation SNP G G A TCGA-CS-4938-01 TCGA-CS-4938-10 Untested Somatic Phase_I WXS none Illumina GAIIx 127 21 ENST00000245907.6:c.3550C>T p.Gln1184Ter p.Q1184* ENST00000245907 NM_000064.2 1184 Cag/Tag 0 0.512 TAGGATCTCTGTAGGTTCATG KLK10 5655 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 19 51518742 51518742 + synonymous_variant Silent SNP G G A TCGA-CS-4938-01 TCGA-CS-4938-10 Untested Somatic Phase_I WXS none Illumina GAIIx 258 124 ENST00000309958.3:c.609C>T p.Val203= p.V203= ENST00000309958 NM_002776.4 203 gtC/gtT 0 0.552 CAGGGTAGAAGACCTCACACT ANXA9 8416 hgsc.bcm.edu;broad.mit.edu GRCh37 1 150955565 150955565 + splice_acceptor_variant Splice_Site SNP G G A TCGA-CS-4938-01 TCGA-CS-4938-10 Untested Somatic Phase_I WXS none Illumina GAIIx 77 6 ENST00000368947.4:c.-16-1G>A p.X6_splice ENST00000368947 NM_003568.2 0 0.622 TCCTTCCCCAGGGCAACCAGT TPO 7173 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 1499888 1499888 + missense_variant Missense_Mutation SNP G G A TCGA-CS-4938-01 TCGA-CS-4938-10 Untested Somatic Phase_I WXS none Illumina GAIIx 51 10 ENST00000345913.4:c.2134G>A p.Gly712Ser p.G712S ENST00000345913 NM_000547.5 712 Ggc/Agc 0 0.562 CTTCCAAGTCGGCAAATTCCC IDH1 3417 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T rs121913500 TCGA-CS-4938-01 TCGA-CS-4938-10 Untested Somatic Phase_I WXS none Illumina GAIIx 52 29 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 0.393 ATAAGCATGACGACCTATGAT LEPREL1 55214 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 3 189705423 189705423 + missense_variant Missense_Mutation SNP C C A TCGA-CS-4938-01 TCGA-CS-4938-10 Untested Somatic Phase_I WXS none Illumina GAIIx 106 30 ENST00000319332.5:c.991G>T p.Ala331Ser p.A331S ENST00000319332 NM_018192.3 331 Gcc/Tcc 0 0.468 AGAAGATAGGCTTTGGCACAC FGF5 2250 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 4 81207632 81207632 + missense_variant Missense_Mutation SNP C C G TCGA-CS-4938-01 TCGA-CS-4938-10 Untested Somatic Phase_I WXS none Illumina GAIIx 101 49 ENST00000312465.7:c.613C>G p.Arg205Gly p.R205G ENST00000312465 NM_004464.3 205 Cgg/Ggg 0 0.463 GTGCAGCCCCCGGGTTAAACC ENPEP 2028 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 4 111441429 111441429 + missense_variant Missense_Mutation SNP C C G TCGA-CS-4938-01 TCGA-CS-4938-10 Untested Somatic Phase_I WXS none Illumina GAIIx 44 34 ENST00000265162.5:c.1634C>G p.Pro545Arg p.P545R ENST00000265162 NM_001977.3 545 cCt/cGt 0 0.428 ATGGGTTATCCTGTGCTTAAC ADAD1 132612 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 4 123336616 123336616 + synonymous_variant Silent SNP A A T TCGA-CS-4938-01 TCGA-CS-4938-10 Untested Somatic Phase_I WXS none Illumina GAIIx 116 70 ENST00000296513.2:c.1332A>T p.Pro444= p.P444= ENST00000296513 NM_139243.3 444 ccA/ccT 0 0.378 CAAAACTTCCAATGTTTTACT TKTL2 84076 hgsc.bcm.edu;broad.mit.edu GRCh37 4 164393959 164393959 + missense_variant Missense_Mutation SNP G G C TCGA-CS-4938-01 TCGA-CS-4938-10 Untested Somatic Phase_I WXS none Illumina GAIIx 228 14 ENST00000280605.3:c.928C>G p.Pro310Ala p.P310A ENST00000280605 NM_032136.4 310 Cca/Gca 0 0.408 taagcaggtggggaggtcatt ADAM22 53616 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 7 87757957 87757957 + missense_variant Missense_Mutation SNP A A G TCGA-CS-4938-01 TCGA-CS-4938-10 Untested Somatic Phase_I WXS none Illumina GAIIx 146 16 ENST00000265727.7:c.719A>G p.Tyr240Cys p.Y240C ENST00000265727 240 tAc/tGc 0 0.403 GAAACCAAATACATTGAACTG KDM7A 80853 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 7 139824520 139824520 + missense_variant Missense_Mutation SNP T T G TCGA-CS-4938-01 TCGA-CS-4938-10 Untested Somatic Phase_I WXS none Illumina GAIIx 33 18 ENST00000397560.2:c.952A>C p.Ser318Arg p.S318R ENST00000397560 NM_030647.1 318 Agt/Cgt 0 0.358 ACAGATGAACTCCAAGATTCA ACTRT1 139741 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 127186136 127186136 + missense_variant Missense_Mutation SNP C C A TCGA-CS-4938-01 TCGA-CS-4938-10 Untested Somatic Phase_I WXS none Illumina GAIIx 68 40 ENST00000371124.3:c.50G>T p.Gly17Val p.G17V ENST00000371124 NM_138289.3 17 gGt/gTt 0 0.433 GAGTCCTGAACCATTGTCAAA ZNF185 7739 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 152083048 152083048 + synonymous_variant Silent SNP T T C TCGA-CS-4938-01 TCGA-CS-4938-10 Untested Somatic Phase_I WXS none Illumina GAIIx 7 8 ENST00000535861.1:c.15T>C p.Ala5= p.A5= ENST00000535861 NM_001178106.1 5 gcT/gcC 0 0.547 GTATCTCAGCTCTTGGAGGCC TTLL7 79739 broad.mit.edu;ucsc.edu GRCh37 1 84356051 84356051 + synonymous_variant Silent SNP T T C TCGA-CS-4938-01 TCGA-CS-4938-10 Untested Somatic Phase_I WXS none Illumina GAIIx 33 29 ENST00000260505.8:c.2322A>G p.Leu774= p.L774= ENST00000260505 NM_024686.4 774 ttA/ttG 0 0.378 GACTCCAGAGTAAGCGATTAA ATRX 546 broad.mit.edu;hgsc.bcm.edu GRCh37 X 76939674 76939674 + frameshift_variant Frame_Shift_Del DEL T T - TCGA-CS-4938-01 TCGA-CS-4938-10 Untested Somatic Phase_I WXS none Illumina GAIIx 143 100 ENST00000373344.5:c.1074delA p.Lys358AsnfsTer2 p.K358Nfs*2 ENST00000373344 NM_000489.3 358 aaA/aa 0 0.368 TCTCAATCAGTTTTTTTGCCT RPP30 10556 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 10 92631801 92631801 + missense_variant Missense_Mutation SNP G G A TCGA-DU-7007-01 TCGA-DU-7007-10 Untested Somatic Phase_I WXS none Illumina GAIIx 94 69 ENST00000413330.1:c.58G>A p.Gly20Arg p.G20R ENST00000413330 NM_001104546.1 20 Gga/Aga 0 0.637 GGCTCTGCGCGGACTTGTGGA SPA17 53340 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 11 124564278 124564278 + missense_variant Missense_Mutation SNP G G A TCGA-DU-7007-01 TCGA-DU-7007-10 Untested Somatic Phase_I WXS none Illumina GAIIx 98 17 ENST00000532692.1:c.392G>A p.Arg131Lys p.R131K ENST00000532692 131 aGa/aAa 0 0.408 CACATAGCCAGAGAGGAGGCA M6PR 4074 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 12 9094479 9094479 + missense_variant Missense_Mutation SNP C C T TCGA-DU-7007-01 TCGA-DU-7007-10 Untested Somatic Phase_I WXS none Illumina GAIIx 449 57 ENST00000000412.3:c.769G>A p.Gly257Ser p.G257S ENST00000000412 NM_002355.3 257 Ggt/Agt 0 0.468 TCCCCCACACCACGATATGCT GPRC5D 55507 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 12 13102595 13102595 + missense_variant Missense_Mutation SNP C C T TCGA-DU-7007-01 TCGA-DU-7007-10 Untested Somatic Phase_I WXS none Illumina GAIIx 86 15 ENST00000228887.1:c.724G>A p.Val242Ile p.V242I ENST00000228887 NM_018654.1 242 Gtc/Atc 0 0.567 GCAATGCAGACGACCGGGTCG DNAH10 196385 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 12 124332564 124332564 + synonymous_variant Silent SNP C C T TCGA-DU-7007-01 TCGA-DU-7007-10 Untested Somatic Phase_I WXS none Illumina GAIIx 38 57 ENST00000409039.3:c.5517C>T p.Thr1839= p.T1839= ENST00000409039 NM_207437.3 1839 acC/acT 0 0.552 CCGGCAAAACCGAGACCACCA COL4A2 1284 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 13 111147702 111147702 + synonymous_variant Silent SNP C C T TCGA-DU-7007-01 TCGA-DU-7007-10 Untested Somatic Phase_I WXS none Illumina GAIIx 111 12 ENST00000360467.5:c.3648C>T p.His1216= p.H1216= ENST00000360467 NM_001846.2 1216 caC/caT 0 0.557 CTGACATCCACGGAGACCCAG NPAP1 23742 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 15 24921762 24921762 + missense_variant Missense_Mutation SNP C C T TCGA-DU-7007-01 TCGA-DU-7007-10 Untested Somatic Phase_I WXS none Illumina GAIIx 61 12 ENST00000329468.2:c.748C>T p.Arg250Trp p.R250W ENST00000329468 NM_018958.2 250 Cgg/Tgg 0 0.622 CGGATGTGCCCGGCATCTTGG GPR139 124274 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 16 20043246 20043246 + synonymous_variant Silent SNP C C G TCGA-DU-7007-01 TCGA-DU-7007-10 Untested Somatic Phase_I WXS none Illumina GAIIx 132 21 ENST00000570682.1:c.873G>C p.Arg291= p.R291= ENST00000570682 NM_001002911.2 291 cgG/cgC 0 0.502 TGGTGCGGAACCGCTTGCTGA TP53 7157 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 7579311 7579311 + splice_donor_variant Splice_Site SNP C C G rs68140816 TCGA-DU-7007-01 TCGA-DU-7007-10 Untested Somatic Phase_I WXS none Illumina GAIIx 16 56 ENST00000269305.4:c.375+1G>C p.X125_splice ENST00000269305 NM_001126112.2 0 0.532 GGGCAACTGACCGTGCAAGTC HELZ 9931 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 65105453 65105453 + missense_variant Missense_Mutation SNP T T C TCGA-DU-7007-01 TCGA-DU-7007-10 Untested Somatic Phase_I WXS none Illumina GAIIx 48 29 ENST00000358691.5:c.4268A>G p.Tyr1423Cys p.Y1423C ENST00000358691 NM_014877.3 1423 tAt/tGt 0 0.527 TCCCGCCTGATATGCAGGAGA TTYH2 94015 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 72246149 72246149 + synonymous_variant Silent SNP C C T TCGA-DU-7007-01 TCGA-DU-7007-10 Untested Somatic Phase_I WXS none Illumina GAIIx 58 38 ENST00000269346.4:c.1005C>T p.Pro335= p.P335= ENST00000269346 NM_032646.5 335 ccC/ccT 0 0.652 TTGCCGTGCCCCTCTTCTCCA ACER1 125981 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 19 6307219 6307219 + missense_variant Missense_Mutation SNP G G A TCGA-DU-7007-01 TCGA-DU-7007-10 Untested Somatic Phase_I WXS none Illumina GAIIx 49 12 ENST00000301452.4:c.571C>T p.Arg191Cys p.R191C ENST00000301452 NM_133492.2 191 Cgt/Tgt 0 0.542 CAAAGCAGACGGTCACTGATC GPR32 2854 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 19 51273893 51273893 + missense_variant Missense_Mutation SNP T T A TCGA-DU-7007-01 TCGA-DU-7007-10 Untested Somatic Phase_I WXS none Illumina GAIIx 17 7 ENST00000270590.4:c.36T>A p.Ser12Arg p.S12R ENST00000270590 NM_001506.2 12 agT/agA 0 0.498 GAGGCTGCAGTGACAGGCAAC BSDC1 55108 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 32842101 32842101 + synonymous_variant Silent SNP G G T TCGA-DU-7007-01 TCGA-DU-7007-10 Untested Somatic Phase_I WXS none Illumina GAIIx 63 42 ENST00000446293.2:c.969C>A p.Ser323= p.S323= ENST00000446293 323 tcC/tcA 0 0.597 GCAGCTTTTGGGACAGGTCCT PCIF1 63935 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 20 44567656 44567656 + synonymous_variant Silent SNP C C T TCGA-DU-7007-01 TCGA-DU-7007-10 Untested Somatic Phase_I WXS none Illumina GAIIx 90 14 ENST00000372409.3:c.18C>T p.His6= p.H6= ENST00000372409 NM_022104.3 6 caC/caT 0 0.602 ATGAGAATCACGGCAGCCCCC APOBEC3H 164668 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 22 39497965 39497965 + missense_variant Missense_Mutation SNP C C T TCGA-DU-7007-01 TCGA-DU-7007-10 Untested Somatic Phase_I WXS none Illumina GAIIx 9 29 ENST00000401756.1:c.461C>T p.Pro154Leu p.P154L ENST00000401756 NM_001166003.1 154 cCg/cTg 0 0.537 CACGAGAAACCGCTTTCCTTC TTN 7273 hgsc.bcm.edu;ucsc.edu GRCh37 2 179613099 179613099 + intron_variant Intron SNP A A C TCGA-DU-7007-01 TCGA-DU-7007-10 Untested Somatic Phase_I WXS none Illumina GAIIx 124 23 ENST00000589042.1:c.11311+4752T>G *3771* ENST00000589042 NM_001267550.1 0 0.333 GACTGGAAGAAATTTCTTGAC IDH1 3417 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T rs121913500 TCGA-DU-7007-01 TCGA-DU-7007-10 Untested Somatic Phase_I WXS none Illumina GAIIx 42 29 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 0.393 ATAAGCATGACGACCTATGAT CNTN3 5067 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 3 74419100 74419100 + missense_variant Missense_Mutation SNP G G C TCGA-DU-7007-01 TCGA-DU-7007-10 Untested Somatic Phase_I WXS none Illumina GAIIx 68 12 ENST00000263665.6:c.701C>G p.Pro234Arg p.P234R ENST00000263665 NM_020872.1 234 cCa/cGa 0 0.333 AAGAGTTTCTGGAAACTGAAC STX19 415117 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 3 93733522 93733522 + synonymous_variant Silent SNP A A G TCGA-DU-7007-01 TCGA-DU-7007-10 Untested Somatic Phase_I WXS none Illumina GAIIx 66 11 ENST00000315099.2:c.592T>C p.Leu198= p.L198= ENST00000315099 NM_001001850.2 198 Tta/Cta 0 0.328 TCTGTAAGTAAGCTTTCATTA PLCH1 23007 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 3 155198970 155198970 + synonymous_variant Silent SNP G G A TCGA-DU-7007-01 TCGA-DU-7007-10 Untested Somatic Phase_I WXS none Illumina GAIIx 68 10 ENST00000340059.7:c.4869C>T p.Thr1623= p.T1623= ENST00000340059 NM_001130960.1 1623 acC/acT 0 0.577 TCACTGCAGGGGTGGGTGCTG ZBBX 79740 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 3 166960403 166960403 + synonymous_variant Silent SNP G G T TCGA-DU-7007-01 TCGA-DU-7007-10 Untested Somatic Phase_I WXS none Illumina GAIIx 20 9 ENST00000455345.2:c.2283C>A p.Thr761= p.T761= ENST00000455345 761 acC/acA 0 0.368 ACTCTTCTGAGGTTAAGCTGT SKP2 6502 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 5 36152899 36152899 + missense_variant Missense_Mutation SNP T T A TCGA-DU-7007-01 TCGA-DU-7007-10 Untested Somatic Phase_I WXS none Illumina GAIIx 50 17 ENST00000274255.6:c.35T>A p.Leu12Gln p.L12Q ENST00000274255 NM_005983.3 12 cTg/cAg 0 0.517 ATTCCAGACCTGAGTAGCAAC GABRA6 2559 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 5 161118969 161118969 + missense_variant Missense_Mutation SNP G G A TCGA-DU-7007-01 TCGA-DU-7007-10 Untested Somatic Phase_I WXS none Illumina GAIIx 79 10 ENST00000274545.5:c.849G>A p.Met283Ile p.M283I ENST00000274545 283 atG/atA 0 0.403 TTTTAACTATGACCACTTTGA DLX5 1749 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 7 96651603 96651603 + missense_variant Missense_Mutation SNP G G C TCGA-DU-7007-01 TCGA-DU-7007-10 Untested Somatic Phase_I WXS none Illumina GAIIx 77 47 ENST00000222598.4:c.434C>G p.Ser145Cys p.S145C ENST00000222598 NM_005221.5 145 tCc/tGc 0 0.498 CTGAAAGCTGGAATAAATAGT PAX4 5078 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 7 127255046 127255046 + missense_variant Missense_Mutation SNP G G C TCGA-DU-7007-01 TCGA-DU-7007-10 Untested Somatic Phase_I WXS none Illumina GAIIx 71 46 ENST00000341640.2:c.224C>G p.Pro75Arg p.P75R ENST00000341640 NM_006193.2 75 cCt/cGt 0 0.582 AGCCACCACAGGGGGTGTAGC KEL 3792 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 7 142655011 142655011 + missense_variant Missense_Mutation SNP C C T TCGA-DU-7007-01 TCGA-DU-7007-10 Untested Somatic Phase_I WXS none Illumina GAIIx 42 16 ENST00000355265.2:c.575G>A p.Arg192Gln p.R192Q ENST00000355265 NM_000420.2 192 cGa/cAa 0 0.522 TCTCAGCGTTCGGTTAAAGTT BICD2 23299 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 9 95481306 95481306 + missense_variant Missense_Mutation SNP C C T TCGA-DU-7007-01 TCGA-DU-7007-10 Untested Somatic Phase_I WXS none Illumina GAIIx 67 22 ENST00000356884.6:c.1621G>A p.Val541Met p.V541M ENST00000356884 NM_001003800.1 541 Gtg/Atg 0 0.657 CACATGCACACGTGGTGGTAG DBH 1621 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 9 136501814 136501814 + synonymous_variant Silent SNP G G A TCGA-DU-7007-01 TCGA-DU-7007-10 Untested Somatic Phase_I WXS none Illumina GAIIx 26 7 ENST00000393056.2:c.321G>A p.Gly107= p.G107= ENST00000393056 NM_000787.3 107 ggG/ggA 0 0.617 GGACCGATGGGGACACTGCCT COL4A5 1287 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 107938508 107938508 + synonymous_variant Silent SNP A A T TCGA-DU-7007-01 TCGA-DU-7007-10 Untested Somatic Phase_I WXS none Illumina GAIIx 58 19 ENST00000328300.6:c.4833A>T p.Ala1611= p.A1611= ENST00000328300 NM_033380.2 1611 gcA/gcT 0 0.488 ATACAAGTGCAGGGGCAGAAG ZNF629 23361 broad.mit.edu;ucsc.edu GRCh37 16 30795077 30795077 + missense_variant Missense_Mutation SNP G G A TCGA-DU-7007-01 TCGA-DU-7007-10 Untested Somatic Phase_I WXS none Illumina GAIIx 38 4 ENST00000262525.4:c.572C>T p.Ser191Leu p.S191L ENST00000262525 NM_001080417.1 191 tCg/tTg 0 0.657 CACCAGGTGCGAGCTCTGCGT OLFM3 118427 broad.mit.edu;ucsc.edu GRCh37 1 102290602 102290602 + missense_variant Missense_Mutation SNP C C T TCGA-DU-7007-01 TCGA-DU-7007-10 Untested Somatic Phase_I WXS none Illumina GAIIx 44 7 ENST00000370103.4:c.572G>A p.Arg191His p.R191H ENST00000370103 NM_058170.2 191 cGt/cAt 0 0.373 CATGCAGTCACGAAGTCTTGT MUC17 140453 broad.mit.edu;ucsc.edu GRCh37 7 100679309 100679309 + missense_variant Missense_Mutation SNP C C G TCGA-DU-7007-01 TCGA-DU-7007-10 Untested Somatic Phase_I WXS none Illumina GAIIx 257 46 ENST00000306151.4:c.4612C>G p.Pro1538Ala p.P1538A ENST00000306151 NM_001040105.1 1538 Cct/Gct 0 0.473 TTCAACAACTCCTGCTGTCAC COL14A1 7373 broad.mit.edu;ucsc.edu GRCh37 8 121290392 121290392 + stop_gained Nonsense_Mutation SNP A A T TCGA-DU-7007-01 TCGA-DU-7007-10 Untested Somatic Phase_I WXS none Illumina GAIIx 63 52 ENST00000297848.3:c.3256A>T p.Lys1086Ter p.K1086* ENST00000297848 NM_021110.2 1086 Aaa/Taa 0 0.378 AACAGAATTTAAACTAAATGC CXXC4 80319 broad.mit.edu;ucsc.edu GRCh37 4 105412082 105412082 + missense_variant Missense_Mutation SNP C C T TCGA-DU-7007-01 TCGA-DU-7007-10 Untested Somatic Phase_I WXS none Illumina GAIIx 61 13 ENST00000394767.2:c.878G>A p.Gly293Glu p.G293E ENST00000394767 NM_025212.2 293 gGg/gAg 0 0.602 GCCAGCTCCCCCTGAGGAGGA CCDC33 80125 broad.mit.edu;ucsc.edu GRCh37 15 74554908 74554908 + stop_gained Nonsense_Mutation SNP C C T TCGA-DU-7007-01 TCGA-DU-7007-10 Untested Somatic Phase_I WXS none Illumina GAIIx 13 4 ENST00000398814.3:c.313C>T p.Gln105Ter p.Q105* ENST00000398814 NM_025055.4 105 Caa/Taa 0 0.597 GGATGCAGGGCAAGAAGGTAA ROS1 6098 broad.mit.edu;hgsc.bcm.edu GRCh37 6 117746774 117746774 + frameshift_variant Frame_Shift_Del DEL T T - TCGA-DU-7007-01 TCGA-DU-7007-10 Untested Somatic Phase_I WXS none Illumina GAIIx 90 60 ENST00000368508.3:c.46delA p.Thr16LeufsTer15 p.T16Lfs*15 ENST00000368508 NM_002944.2 16 Act/ct 0 0.378 CAGCCAAGAGTTGCAAAATTG METAP2 10988 broad.mit.edu;hgsc.bcm.edu GRCh37 12 95868076 95868078 + inframe_deletion In_Frame_Del DEL AAG AAG - TCGA-DU-7007-01 TCGA-DU-7007-10 Untested Somatic Phase_I WXS none Illumina GAIIx 45 11 ENST00000323666.5:c.131_133delAGA p.Lys44del p.K44del ENST00000323666 NM_006838.3 41 AAG/- 0 0.557 AAAAAGACGAAAGAAGAAGAAGA ATRX 546 broad.mit.edu GRCh37 X 76814313 76814313 + stop_gained Nonsense_Mutation SNP G G A TCGA-DU-7007-01 TCGA-DU-7007-10 Untested Somatic Phase_I WXS none Illumina GAIIx 6 15 ENST00000373344.5:c.6331C>T p.Arg2111Ter p.R2111* ENST00000373344 NM_000489.3 2111 Cga/Tga 0 0.274 ATAAATAATCGTCCTCTGAAA CD163 9332 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 12 7635248 7635248 + missense_variant Missense_Mutation SNP G G A TCGA-HT-7481-01 TCGA-HT-7481-10 Untested Somatic Phase_I WXS none Illumina GAIIx 124 55 ENST00000359156.4:c.3238C>T p.Arg1080Trp p.R1080W ENST00000359156 NM_004244.5 1080 Cgg/Tgg 0 0.428 CCTGCAAGCCGCTGTCTCTGT KERA 11081 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 12 91449544 91449544 + missense_variant Missense_Mutation SNP T T C TCGA-HT-7481-01 TCGA-HT-7481-10 Untested Somatic Phase_I WXS none Illumina GAIIx 160 49 ENST00000266719.3:c.515A>G p.Asp172Gly p.D172G ENST00000266719 NM_007035.3 172 gAc/gGc 0 0.413 GTTCTGTAGGTCAAGAAGGGT FSCB 84075 hgsc.bcm.edu;broad.mit.edu GRCh37 14 44975038 44975038 + synonymous_variant Silent SNP G G T TCGA-HT-7481-01 TCGA-HT-7481-10 Untested Somatic Phase_I WXS none Illumina GAIIx 144 12 ENST00000340446.4:c.1153C>A p.Arg385= p.R385= ENST00000340446 NM_032135.3 385 Cgg/Agg 0 0.532 GAGGGAGACCGAATTTCACCA NETO1 81832 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 18 70417415 70417415 + missense_variant Missense_Mutation SNP T T C TCGA-HT-7481-01 TCGA-HT-7481-10 Untested Somatic Phase_I WXS none Illumina GAIIx 49 13 ENST00000327305.6:c.1423A>G p.Ile475Val p.I475V ENST00000327305 NM_138966.3 475 Atc/Gtc 0 0.507 ATGACAAGGATATTTCTTCTG NLRP2 55655 hgsc.bcm.edu;broad.mit.edu GRCh37 19 55494669 55494669 + missense_variant Missense_Mutation SNP G G A TCGA-HT-7481-01 TCGA-HT-7481-10 Untested Somatic Phase_I WXS none Illumina GAIIx 51 4 ENST00000543010.1:c.1603G>A p.Val535Ile p.V535I ENST00000543010 NM_001174081.1 535 Gta/Ata 0 0.557 CATTGGGGACGTACAGAAGCT FUBP1 8880 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 78420962 78420962 + stop_gained Nonsense_Mutation SNP C C T TCGA-HT-7481-01 TCGA-HT-7481-10 Untested Somatic Phase_I WXS none Illumina GAIIx 24 11 ENST00000370768.2:c.1758G>A p.Trp586Ter p.W586* ENST00000370768 NM_003902.3 586 tgG/tgA 0 0.318 AGTACTCTTCCCAAGCCTTGG HRNR 388697 hgsc.bcm.edu;broad.mit.edu GRCh37 1 152191242 152191242 + missense_variant Missense_Mutation SNP A A G TCGA-HT-7481-01 TCGA-HT-7481-10 Untested Somatic Phase_I WXS none Illumina GAIIx 319 96 ENST00000368801.2:c.2863T>C p.Ser955Pro p.S955P ENST00000368801 NM_001009931.2 955 Tcc/Ccc 0 0.542 TCGTAGCTGGAGGAGTGACCT FLRT3 23767 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 20 14306271 14306271 + missense_variant Missense_Mutation SNP T T C TCGA-HT-7481-01 TCGA-HT-7481-10 Untested Somatic Phase_I WXS none Illumina GAIIx 141 18 ENST00000378053.3:c.1882A>G p.Ser628Gly p.S628G ENST00000378053 NM_013281.3 628 Agt/Ggt 0 0.413 CTGCTTTCACTGTGATTGTTT TSHZ2 128553 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 20 51873020 51873020 + missense_variant Missense_Mutation SNP C C T TCGA-HT-7481-01 TCGA-HT-7481-10 Untested Somatic Phase_I WXS none Illumina GAIIx 59 19 ENST00000371497.5:c.3023C>T p.Ala1008Val p.A1008V ENST00000371497 NM_173485.5 1008 gCg/gTg 0 0.468 AGCAAACATGCGGTAAAACTC DNMT3A 1788 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 25470985 25470985 + missense_variant Missense_Mutation SNP G G C TCGA-HT-7481-01 TCGA-HT-7481-10 Untested Somatic Phase_I WXS none Illumina GAIIx 55 24 ENST00000264709.3:c.776C>G p.Ala259Gly p.A259G ENST00000264709 NM_175629.2 259 gCt/gGt 0 0.647 AGGCGTGGTAGCCACAGTGGG IDH1 3417 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T rs121913500 TCGA-HT-7481-01 TCGA-HT-7481-10 Untested Somatic Phase_I WXS none Illumina GAIIx 77 16 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 0.393 ATAAGCATGACGACCTATGAT PIK3CA 5290 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 3 178917478 178917478 + missense_variant,splice_region_variant Missense_Mutation SNP G G A TCGA-HT-7481-01 TCGA-HT-7481-10 Untested Somatic Phase_I WXS none Illumina GAIIx 82 14 ENST00000263967.3:c.353G>A p.Gly118Asp p.G118D ENST00000263967 NM_006218.2 118 gGt/gAt 0 0.338 TTTATTAAAGGTTTTGCTATC PIK3CA 5290 hgsc.bcm.edu;broad.mit.edu GRCh37 3 178952072 178952072 + missense_variant Missense_Mutation SNP A A G TCGA-HT-7481-01 TCGA-HT-7481-10 Untested Somatic Phase_I WXS none Illumina GAIIx 101 7 ENST00000263967.3:c.3127A>G p.Met1043Val p.M1043V ENST00000263967 NM_006218.2 1043 Atg/Gtg 0 0.368 CATGAAACAAATGAATGATGC LMLN 89782 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 3 197751579 197751579 + missense_variant Missense_Mutation SNP C C G TCGA-HT-7481-01 TCGA-HT-7481-10 Untested Somatic Phase_I WXS none Illumina GAIIx 96 12 ENST00000420910.2:c.1687C>G p.Leu563Val p.L563V ENST00000420910 NM_001136049.2 563 Cta/Gta 0 0.393 TTCCGTTTGTCTAATTCAGAA CPEB2 132864 hgsc.bcm.edu;broad.mit.edu GRCh37 4 15060817 15060817 + missense_variant Missense_Mutation SNP A A T TCGA-HT-7481-01 TCGA-HT-7481-10 Untested Somatic Phase_I WXS none Illumina GAIIx 63 5 ENST00000538197.1:c.2587A>T p.Ile863Leu p.I863L ENST00000538197 NM_001177382.1 863 Ata/Tta 0 0.348 ATAGGTTCAAATACGTCCTTG UGT2B28 54490 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 4 70155435 70155435 + missense_variant Missense_Mutation SNP G G A TCGA-HT-7481-01 TCGA-HT-7481-10 Untested Somatic Phase_I WXS none Illumina GAIIx 40 31 ENST00000335568.5:c.1055G>A p.Arg352Gln p.R352Q ENST00000335568 NM_053039.1 352 cGg/cAg 0 0.363 CTCAATACTCGGCTGTATAAG GK2 2712 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 4 80328636 80328636 + missense_variant Missense_Mutation SNP T T C TCGA-HT-7481-01 TCGA-HT-7481-10 Untested Somatic Phase_I WXS none Illumina GAIIx 100 37 ENST00000358842.3:c.719A>G p.Tyr240Cys p.Y240C ENST00000358842 NM_033214.2 240 tAt/tGt 0 0.423 AATTAGGCCATAGATCTCAGA NUP155 9631 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 5 37309323 37309323 + missense_variant Missense_Mutation SNP T T C TCGA-HT-7481-01 TCGA-HT-7481-10 Untested Somatic Phase_I WXS none Illumina GAIIx 24 9 ENST00000231498.3:c.2675A>G p.Glu892Gly p.E892G ENST00000231498 NM_153485.2 892 gAa/gGa 0 0.343 TCTTTCTTTTTCAGTCTTATT KIF6 221458 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 6 39513390 39513390 + missense_variant Missense_Mutation SNP C C T TCGA-HT-7481-01 TCGA-HT-7481-10 Untested Somatic Phase_I WXS none Illumina GAIIx 77 32 ENST00000287152.7:c.1256G>A p.Arg419His p.R419H ENST00000287152 NM_145027.4 419 cGt/cAt 0 0.358 ATGAACTTTACGCATATCCGC DLK2 65989 hgsc.bcm.edu;broad.mit.edu GRCh37 6 43418774 43418774 + missense_variant Missense_Mutation SNP G G A TCGA-HT-7481-01 TCGA-HT-7481-10 Untested Somatic Phase_I WXS none Illumina GAIIx 71 5 ENST00000357338.3:c.655C>T p.Arg219Cys p.R219C ENST00000357338 NM_206539.1 219 Cgc/Tgc 0 0.622 TGGCATGGGCGGCTGGCACAG FRK 2444 hgsc.bcm.edu;broad.mit.edu GRCh37 6 116265543 116265543 + missense_variant Missense_Mutation SNP G G A TCGA-HT-7481-01 TCGA-HT-7481-10 Untested Somatic Phase_I WXS none Illumina GAIIx 67 4 ENST00000606080.1:c.1004C>T p.Ala335Val p.A335V ENST00000606080 NM_002031.2 335 gCg/gTg 0 0.418 AACCTGTGCCGCCATGTCTAC MAP3K4 4216 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 6 161470895 161470895 + missense_variant Missense_Mutation SNP G G C TCGA-HT-7481-01 TCGA-HT-7481-10 Untested Somatic Phase_I WXS none Illumina GAIIx 100 13 ENST00000392142.4:c.1591G>C p.Asp531His p.D531H ENST00000392142 NM_005922.2 531 Gac/Cac 0 0.423 ACCATTTGTAGACAAAGCACT RAB11FIP1 80223 hgsc.bcm.edu;broad.mit.edu GRCh37 8 37734856 37734856 + synonymous_variant Silent SNP G G A TCGA-HT-7481-01 TCGA-HT-7481-10 Untested Somatic Phase_I WXS none Illumina GAIIx 173 13 ENST00000330843.4:c.585C>T p.Ser195= p.S195= ENST00000330843 NM_001002814.2 195 agC/agT 0 0.448 AAGGTGTCGTGCTAGGGATGA WISP2 8839 broad.mit.edu;ucsc.edu GRCh37 20 43348625 43348625 + missense_variant Missense_Mutation SNP T T G TCGA-HT-7481-01 TCGA-HT-7481-10 Untested Somatic Phase_I WXS none Illumina GAIIx 16 5 ENST00000372868.2:c.148T>G p.Cys50Gly p.C50G ENST00000372868 50 Tgt/Ggt 0 0.697 GCTGGATGGCTGTGGCTGCTG HIST1H2BF 8343 broad.mit.edu;hgsc.bcm.edu GRCh37 6 26199854 26199856 + inframe_deletion In_Frame_Del DEL AGA AGA - rs150784470 TCGA-HT-7481-01 TCGA-HT-7481-10 Untested Somatic Phase_I WXS none Illumina GAIIx 131 61 ENST00000359985.1:c.73_75delAAG p.Lys25del p.K25del ENST00000359985 NM_003522.3 23 cAGAag/cag 0 0.522 ACCAAGGCGCAGAAGAAGGATGG BACH2 60468 broad.mit.edu;hgsc.bcm.edu GRCh37 6 90660233 90660235 + inframe_deletion In_Frame_Del DEL TCC TCC - TCGA-HT-7481-01 TCGA-HT-7481-10 Untested Somatic Phase_I WXS none Illumina GAIIx 63 19 ENST00000257749.4:c.1590_1592delGGA p.Glu530del p.E530del ENST00000257749 NM_021813.2 530 gaGGAc/gac 0 0.616 CCCGCTCCCGTCCTCCGCGTAGG NOTCH1 4851 broad.mit.edu GRCh37 9 139413067 139413069 + inframe_deletion In_Frame_Del DEL AGT AGT - TCGA-HT-7481-01 TCGA-HT-7481-10 Untested Somatic Phase_I WXS none Illumina GAIIx 29 7 ENST00000277541.6:c.1073_1075delACT p.Tyr358del p.Y358del ENST00000277541 NM_017617.3 358 tACTgc/tgc 0 0.655 GGACACTCGCAGTAGAAGGAGGC PIK3CA 5290 broad.mit.edu GRCh37 3 178928078 178928080 + inframe_deletion In_Frame_Del DEL AGA AGA - TCGA-HT-7481-01 TCGA-HT-7481-10 Untested Somatic Phase_I WXS none Illumina GAIIx 102 8 ENST00000263967.3:c.1359_1361delAGA p.Glu453del p.E453del ENST00000263967 NM_006218.2 452 ttAGAa/tta 0 0.35 CTCATGGATTAGAAGATTTGCTG PIK3R1 5295 broad.mit.edu GRCh37 5 67589147 67589149 + inframe_deletion In_Frame_Del DEL AAA AAA - TCGA-HT-7481-01 TCGA-HT-7481-10 Untested Somatic Phase_I WXS none Illumina GAIIx 69 11 ENST00000274335.5:c.1135_1137delAAA p.Lys379del p.K379del ENST00000274335 379 AAA/- 0 0.31 GGGAAATAACAAATTAATCAAAA TRIM51 84767 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 11 55655604 55655604 + stop_gained Nonsense_Mutation SNP C C T TCGA-DU-5872-01 TCGA-DU-5872-10 Untested Somatic Phase_I WXS none Illumina GAIIx 42 22 ENST00000449290.2:c.604C>T p.Arg202Ter p.R202* ENST00000449290 NM_032681.3 202 Cga/Tga 0 0.433 GGAAAGGCTGCGAAAGGAGGG PRICKLE1 144165 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 12 42858963 42858963 + synonymous_variant Silent SNP A A G TCGA-DU-5872-01 TCGA-DU-5872-10 Untested Somatic Phase_I WXS none Illumina GAIIx 27 19 ENST00000455697.1:c.873T>C p.Cys291= p.C291= ENST00000455697 NM_001144883.1 291 tgT/tgC 0 0.522 GAAGGAAGGGACATCCCAACA TP53 7157 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 7578394 7578394 + missense_variant Missense_Mutation SNP T T C TCGA-DU-5872-01 TCGA-DU-5872-10 Untested Somatic Phase_I WXS none Illumina GAIIx 15 45 ENST00000269305.4:c.536A>G p.His179Arg p.H179R ENST00000269305 NM_001126112.2 179 cAt/cGt 0 0.642 GCAGCGCTCATGGTGGGGGCA PSMD12 5718 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 65341917 65341917 + synonymous_variant Silent SNP T T A TCGA-DU-5872-01 TCGA-DU-5872-10 Untested Somatic Phase_I WXS none Illumina GAIIx 38 27 ENST00000356126.3:c.852A>T p.Ser284= p.S284= ENST00000356126 NM_002816.3 284 tcA/tcT 0 0.358 GAACCAAATCTGACTGTTCAT LAMA3 3909 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 18 21425086 21425086 + splice_region_variant,synonymous_variant Splice_Region SNP T T G TCGA-DU-5872-01 TCGA-DU-5872-10 Untested Somatic Phase_I WXS none Illumina GAIIx 20 16 ENST00000313654.9:c.3717T>G p.Leu1239= p.L1239= ENST00000313654 NM_198129.1 1239 ctT/ctG 0 0.493 GCTTTTACCTTGAGTGAGTAT RERE 473 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 8421423 8421423 + missense_variant Missense_Mutation SNP A A G TCGA-DU-5872-01 TCGA-DU-5872-10 Untested Somatic Phase_I WXS none Illumina GAIIx 39 23 ENST00000337907.3:c.2144T>C p.Ile715Thr p.I715T ENST00000337907 NM_012102.3 715 aTc/aCc 0 0.627 GGGGCTGGGGATGCTCGGGGA TAS1R2 80834 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 19166820 19166820 + stop_gained Nonsense_Mutation SNP G G T TCGA-DU-5872-01 TCGA-DU-5872-10 Untested Somatic Phase_I WXS none Illumina GAIIx 45 26 ENST00000375371.3:c.1793C>A p.Ser598Ter p.S598* ENST00000375371 NM_152232.2 598 tCg/tAg 0 0.647 GCCCCCAGCCGAGCGAACTAT COL11A1 1301 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 103380351 103380351 + missense_variant Missense_Mutation SNP C C T TCGA-DU-5872-01 TCGA-DU-5872-10 Untested Somatic Phase_I WXS none Illumina GAIIx 22 12 ENST00000370096.3:c.3833G>A p.Arg1278Lys p.R1278K ENST00000370096 NM_001854.3 1278 aGa/aAa 0 0.453 TTTCTCTCCTCTTTCTCCTTT PIAS3 10401 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 145585437 145585437 + missense_variant Missense_Mutation SNP C C G TCGA-DU-5872-01 TCGA-DU-5872-10 Untested Somatic Phase_I WXS none Illumina GAIIx 55 52 ENST00000393045.2:c.1702C>G p.His568Asp p.H568D ENST00000393045 NM_006099.3 568 Cac/Gac 0 0.637 GACCCCTTCTCACTTTCTGGG FAM161A 84140 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 62067511 62067511 + missense_variant Missense_Mutation SNP C C A TCGA-DU-5872-01 TCGA-DU-5872-10 Untested Somatic Phase_I WXS none Illumina GAIIx 118 68 ENST00000404929.1:c.628G>T p.Asp210Tyr p.D210Y ENST00000404929 NM_001201543.1 210 Gat/Tat 0 0.408 CGAATATAATCCTCAACACAA BUB1 699 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 111423902 111423902 + missense_variant Missense_Mutation SNP T T C TCGA-DU-5872-01 TCGA-DU-5872-10 Untested Somatic Phase_I WXS none Illumina GAIIx 25 12 ENST00000302759.6:c.895A>G p.Lys299Glu p.K299E ENST00000302759 NM_004336.4 299 Aag/Gag 0 0.428 TGATGCAACTTCTTATGAAGT WDR33 55339 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 128522748 128522748 + missense_variant,splice_region_variant Missense_Mutation SNP C C G TCGA-DU-5872-01 TCGA-DU-5872-10 Untested Somatic Phase_I WXS none Illumina GAIIx 13 13 ENST00000322313.4:c.474G>C p.Gln158His p.Q158H ENST00000322313 NM_018383.4 158 caG/caC 0 0.398 TTATCATTACCTGTAATATTG IDH1 3417 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T rs121913500 TCGA-DU-5872-01 TCGA-DU-5872-10 Untested Somatic Phase_I WXS none Illumina GAIIx 47 32 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 0.393 ATAAGCATGACGACCTATGAT SPP2 6694 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 234969077 234969077 + missense_variant Missense_Mutation SNP G G A TCGA-DU-5872-01 TCGA-DU-5872-10 Untested Somatic Phase_I WXS none Illumina GAIIx 40 23 ENST00000168148.3:c.398G>A p.Arg133His p.R133H ENST00000168148 NM_006944.2 133 cGc/cAc 0 0.577 GTGCATGCTCGCTGCAGCTGG HDAC4 9759 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 239976491 239976491 + synonymous_variant Silent SNP G G A TCGA-DU-5872-01 TCGA-DU-5872-10 Untested Somatic Phase_I WXS none Illumina GAIIx 70 37 ENST00000345617.3:c.3027C>T p.Pro1009= p.P1009= ENST00000345617 NM_006037.3 1009 ccC/ccT 0 0.507 CGTTTGCATTGGGTCTTTGCT PROS1 5627 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 3 93624931 93624931 + missense_variant Missense_Mutation SNP T T C TCGA-DU-5872-01 TCGA-DU-5872-10 Untested Somatic Phase_I WXS none Illumina GAIIx 107 69 ENST00000394236.3:c.403A>G p.Lys135Glu p.K135E ENST00000394236 NM_000313.3 135 Aaa/Gaa 0 0.408 TTTCCATCTTTGCAGCTCATA PLCH1 23007 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 3 155200741 155200741 + missense_variant Missense_Mutation SNP A A G TCGA-DU-5872-01 TCGA-DU-5872-10 Untested Somatic Phase_I WXS none Illumina GAIIx 53 28 ENST00000340059.7:c.3098T>C p.Leu1033Pro p.L1033P ENST00000340059 NM_001130960.1 1033 cTc/cCc 0 0.453 ATCTTTGTGGAGCAGAGCACT SPATA16 83893 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 3 172631478 172631478 + synonymous_variant Silent SNP A A G TCGA-DU-5872-01 TCGA-DU-5872-10 Untested Somatic Phase_I WXS none Illumina GAIIx 40 26 ENST00000351008.3:c.1560T>C p.Asn520= p.N520= ENST00000351008 NM_031955.5 520 aaT/aaC 0 0.373 ACACACGTTCATTATTGTTTC TRRAP 8295 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 7 98545941 98545941 + missense_variant Missense_Mutation SNP C C T TCGA-DU-5872-01 TCGA-DU-5872-10 Untested Somatic Phase_I WXS none Illumina GAIIx 84 34 ENST00000359863.4:c.4625C>T p.Thr1542Met p.T1542M ENST00000359863 NM_001244580.1 1542 aCg/aTg 0 0.498 GTCATGAAAACGGAGCGGGCG CRYGN 155051 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 7 151135095 151135095 + missense_variant Missense_Mutation SNP C C T rs148445096 TCGA-DU-5872-01 TCGA-DU-5872-10 Untested Somatic Phase_I WXS none Illumina GAIIx 34 27 ENST00000337323.2:c.257G>A p.Arg86Gln p.R86Q ENST00000337323 NM_144727.1 86 cGg/cAg 0 0.627 TCCTACAGGCCGACAGGAGCC CA9 768 hgsc.bcm.edu;ucsc.edu GRCh37 9 35674208 35674208 + synonymous_variant Silent SNP T T C rs137897809 by1000genomes TCGA-DU-5872-01 TCGA-DU-5872-10 Untested Somatic Phase_I WXS none Illumina GAIIx 15 7 ENST00000378357.4:c.252T>C p.Pro84= p.P84= ENST00000378357 NM_001216.2 84 ccT/ccC 0 0.542 AGGATCTACCTGGAGAGGAGG RORB 6096 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 9 77257427 77257427 + missense_variant Missense_Mutation SNP G G C TCGA-DU-5872-01 TCGA-DU-5872-10 Untested Somatic Phase_I WXS none Illumina GAIIx 38 11 ENST00000376896.3:c.333G>C p.Gln111His p.Q111H ENST00000376896 NM_006914.3 111 caG/caC 0 0.592 ggcagcagcagAGTGGGGAGG SETX 23064 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 9 135205145 135205145 + missense_variant Missense_Mutation SNP T T C TCGA-DU-5872-01 TCGA-DU-5872-10 Untested Somatic Phase_I WXS none Illumina GAIIx 38 28 ENST00000224140.5:c.1840A>G p.Ile614Val p.I614V ENST00000224140 NM_015046.5 614 Atc/Gtc 0 0.353 GCAGGAGAGATTTTACATGCA CCDC160 347475 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 133379653 133379653 + missense_variant Missense_Mutation SNP C C T TCGA-DU-5872-01 TCGA-DU-5872-10 Untested Somatic Phase_I WXS none Illumina GAIIx 13 9 ENST00000517294.1:c.823C>T p.Arg275Cys p.R275C ENST00000517294 275 Cgc/Tgc 0 0.383 GGCAAAGATCCGCGGAGAGCT PLXNA3 55558 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 153688767 153688767 + missense_variant Missense_Mutation SNP A A G rs142949704 TCGA-DU-5872-01 TCGA-DU-5872-10 Untested Somatic Phase_I WXS none Illumina GAIIx 15 10 ENST00000369682.3:c.244A>G p.Ser82Gly p.S82G ENST00000369682 NM_017514.3 82 Agc/Ggc 0 0.672 CCCGCCCCCCAGCATGCGCGT ZNF451 26036 broad.mit.edu;ucsc.edu GRCh37 6 57012701 57012701 + stop_gained Nonsense_Mutation SNP G G A TCGA-DU-5872-01 TCGA-DU-5872-10 Untested Somatic Phase_I WXS none Illumina GAIIx 58 40 ENST00000370706.4:c.1818G>A p.Trp606Ter p.W606* ENST00000370706 NM_001031623.2 606 tgG/tgA 0 0.418 GGGGTAAATGGCAATGCCGGA CPO 130749 broad.mit.edu;ucsc.edu GRCh37 2 207814342 207814342 + missense_variant,splice_region_variant Missense_Mutation SNP T T C TCGA-DU-5872-01 TCGA-DU-5872-10 Untested Somatic Phase_I WXS none Illumina GAIIx 41 25 ENST00000272852.3:c.70T>C p.Ser24Pro p.S24P ENST00000272852 NM_173077.2 24 Tcc/Ccc 0 0.473 CCTTTGCAGATCCTTAGCCCA AKAP4 8852 broad.mit.edu;ucsc.edu GRCh37 X 49957597 49957597 + synonymous_variant Silent SNP A A G TCGA-DU-5872-01 TCGA-DU-5872-10 Untested Somatic Phase_I WXS none Illumina GAIIx 66 31 ENST00000358526.2:c.1767T>C p.Gly589= p.G589= ENST00000358526 NM_003886.2 589 ggT/ggC 0 0.488 CACTTTGGCCACCTCCACACT ATRX 546 broad.mit.edu;ucsc.edu GRCh37 X 76813106 76813106 + missense_variant Missense_Mutation SNP T T G TCGA-DU-5872-01 TCGA-DU-5872-10 Untested Somatic Phase_I WXS none Illumina GAIIx 65 35 ENST00000373344.5:c.6515A>C p.Glu2172Ala p.E2172A ENST00000373344 NM_000489.3 2172 gAa/gCa 0 0.338 AATCTTATCTTCCATGGTTCC COL1A2 1278 broad.mit.edu;ucsc.edu GRCh37 7 94057712 94057712 + missense_variant Missense_Mutation SNP C C T TCGA-DU-5872-01 TCGA-DU-5872-10 Untested Somatic Phase_I WXS none Illumina GAIIx 100 34 ENST00000297268.6:c.3634C>T p.Pro1212Ser p.P1212S ENST00000297268 NM_000089.3 1212 Cca/Tca 0 0.488 TGAAAACATCCCAGCCAAGAA SLCO1B1 10599 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 12 21329781 21329781 + missense_variant Missense_Mutation SNP T T C TCGA-DU-6401-01 TCGA-DU-6401-10 Untested Somatic Phase_I WXS none Illumina GAIIx 43 39 ENST00000256958.2:c.431T>C p.Ile144Thr p.I144T ENST00000256958 NM_006446.4 144 aTt/aCt 0 0.274 ACTTGTTTAATTAATCAAATT DYNC1H1 1778 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 14 102508452 102508452 + missense_variant Missense_Mutation SNP A A G TCGA-DU-6401-01 TCGA-DU-6401-10 Untested Somatic Phase_I WXS none Illumina GAIIx 18 12 ENST00000360184.4:c.12205A>G p.Ile4069Val p.I4069V ENST00000360184 NM_001376.4 4069 Att/Gtt 0 0.537 GATCACTTCAATTGCAATCGG ITGAD 3681 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 16 31419095 31419095 + synonymous_variant Silent SNP C C T TCGA-DU-6401-01 TCGA-DU-6401-10 Untested Somatic Phase_I WXS none Illumina GAIIx 21 17 ENST00000389202.2:c.867C>T p.His289= p.H289= ENST00000389202 NM_005353.2 289 caC/caT 0 0.617 AGGTGGGACACGCTTTCCAGG TP53 7157 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 7574018 7574018 + missense_variant Missense_Mutation SNP G G A TCGA-DU-6401-01 TCGA-DU-6401-10 Untested Somatic Phase_I WXS none Illumina GAIIx 8 20 ENST00000269305.4:c.1009C>T p.Arg337Cys p.R337C ENST00000269305 NM_001126112.2 337 Cgc/Tgc 0 0.522 ATCTCGAAGCGCTCACGCCCA TMC6 11322 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 76116777 76116777 + missense_variant Missense_Mutation SNP C C T TCGA-DU-6401-01 TCGA-DU-6401-10 Untested Somatic Phase_I WXS none Illumina GAIIx 109 29 ENST00000590602.1:c.1672G>A p.Val558Ile p.V558I ENST00000590602 558 Gtc/Atc 0 0.637 AACATGAGGACGAAGTCCATC CEACAM5 1048 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 19 42224879 42224879 + synonymous_variant Silent SNP G G A TCGA-DU-6401-01 TCGA-DU-6401-10 Untested Somatic Phase_I WXS none Illumina GAIIx 69 45 ENST00000221992.6:c.1809G>A p.Ser603= p.S603= ENST00000221992 NM_004363.2 603 tcG/tcA 0 0.547 CCCCAGACTCGTCTTACCTTT DHDDS 79947 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 26772898 26772898 + missense_variant Missense_Mutation SNP G G A TCGA-DU-6401-01 TCGA-DU-6401-10 Untested Somatic Phase_I WXS none Illumina GAIIx 92 46 ENST00000360009.2:c.415G>A p.Val139Ile p.V139I ENST00000360009 NM_024887.3 139 Gta/Ata 0 0.517 TGCACAAGCTGTACAGGCCAC CELSR1 9620 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 22 46929726 46929726 + missense_variant Missense_Mutation SNP G G C TCGA-DU-6401-01 TCGA-DU-6401-10 Untested Somatic Phase_I WXS none Illumina GAIIx 103 82 ENST00000262738.3:c.3342C>G p.Asn1114Lys p.N1114K ENST00000262738 NM_014246.1 1114 aaC/aaG 0 0.592 TGTTGGACTTGTTGGTGACAT IDH1 3417 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 209113113 209113113 + missense_variant Missense_Mutation SNP G G T rs121913499 TCGA-DU-6401-01 TCGA-DU-6401-10 Untested Somatic Phase_I WXS none Illumina GAIIx 53 28 ENST00000345146.2:c.394C>A p.Arg132Ser p.R132S ENST00000345146 NM_005896.2 132 Cgt/Agt 0 0.398 TAAGCATGACGACCTATGATG SLIT2 9353 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 4 20490510 20490510 + missense_variant Missense_Mutation SNP G G A TCGA-DU-6401-01 TCGA-DU-6401-10 Untested Somatic Phase_I WXS none Illumina GAIIx 180 35 ENST00000504154.1:c.680G>A p.Arg227Lys p.R227K ENST00000504154 NM_004787.1 227 aGg/aAg 0 0.498 CTTCGCCAAAGGCCTCGGGTT LAMA2 3908 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 6 129419503 129419503 + synonymous_variant Silent SNP T T C TCGA-DU-6401-01 TCGA-DU-6401-10 Untested Somatic Phase_I WXS none Illumina GAIIx 64 9 ENST00000421865.2:c.582T>C p.Asp194= p.D194= ENST00000421865 NM_001079823.1 194 gaT/gaC 0 0.443 ATGCCAAAGATGATGAGGTCA TNFAIP3 7128 hgsc.bcm.edu;broad.mit.edu GRCh37 6 138199814 138199814 + missense_variant Missense_Mutation SNP G G A TCGA-DU-6401-01 TCGA-DU-6401-10 Untested Somatic Phase_I WXS none Illumina GAIIx 84 7 ENST00000237289.4:c.1232G>A p.Arg411Gln p.R411Q ENST00000237289 NM_001270507.1 411 cGg/cAg 0 0.557 TCAGAGAGGCGGCAAAAGAAT ENPP2 5168 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 8 120596283 120596283 + synonymous_variant Silent SNP A A G TCGA-DU-6401-01 TCGA-DU-6401-10 Untested Somatic Phase_I WXS none Illumina GAIIx 63 66 ENST00000259486.6:c.1530T>C p.Pro510= p.P510= ENST00000259486 NM_006209.4 510 ccT/ccC 0 0.348 AAACATCCAAAGGTTTCCTAA KCNT1 57582 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 9 138657002 138657002 + missense_variant Missense_Mutation SNP G G T TCGA-DU-6401-01 TCGA-DU-6401-10 Untested Somatic Phase_I WXS none Illumina GAIIx 98 11 ENST00000371757.2:c.1161G>T p.Met387Ile p.M387I ENST00000371757 NM_020822.2 387 atG/atT 0 0.642 ACCTTCTCATGGACTTCCTGA CXorf23 256643 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 19983583 19983583 + missense_variant Missense_Mutation SNP G G T TCGA-DU-6401-01 TCGA-DU-6401-10 Untested Somatic Phase_I WXS none Illumina GAIIx 36 41 ENST00000379687.3:c.853C>A p.Arg285Ser p.R285S ENST00000379687 NM_198279.3 285 Cgt/Agt 0 0.458 AGCTTAGGACGTTTGTGACGA HDAC6 10013 hgsc.bcm.edu;broad.mit.edu GRCh37 X 48682452 48682452 + missense_variant Missense_Mutation SNP A A G TCGA-DU-6401-01 TCGA-DU-6401-10 Untested Somatic Phase_I WXS none Illumina GAIIx 50 6 ENST00000334136.5:c.3424A>G p.Asn1142Asp p.N1142D ENST00000334136 1142 Aat/Gat 0 0.592 AATCCAAGAGAATTGGGTGTG GLUD2 2747 hgsc.bcm.edu;broad.mit.edu GRCh37 X 120182836 120182836 + missense_variant Missense_Mutation SNP G G A TCGA-DU-6401-01 TCGA-DU-6401-10 Untested Somatic Phase_I WXS none Illumina GAIIx 214 22 ENST00000328078.1:c.1298G>A p.Gly433Glu p.G433E ENST00000328078 NM_012084.3 433 gGa/gAa 0 0.418 TTGAATGCTGGAGGAGTGACA ZFYVE26 23503 broad.mit.edu;ucsc.edu GRCh37 14 68251787 68251787 + missense_variant Missense_Mutation SNP C C T TCGA-DU-6401-01 TCGA-DU-6401-10 Untested Somatic Phase_I WXS none Illumina GAIIx 111 75 ENST00000347230.4:c.3512G>A p.Ser1171Asn p.S1171N ENST00000347230 NM_015346.3 1171 aGc/aAc 0 0.502 AGGCTCAGAGCTCAAACTTTG MAP2K3 5606 broad.mit.edu;ucsc.edu GRCh37 17 21217496 21217496 + missense_variant Missense_Mutation SNP C C T rs35755743 TCGA-DU-6401-01 TCGA-DU-6401-10 Untested Somatic Phase_I WXS none Illumina GAIIx 317 65 ENST00000342679.4:c.998C>T p.Thr333Met p.T333M ENST00000342679 NM_145109.2 333 aCg/aTg 0 0.617 ACCAAGAAGACGGACATTGCT LPAR4 2846 broad.mit.edu;ucsc.edu GRCh37 X 78010568 78010568 + missense_variant Missense_Mutation SNP A A G TCGA-DU-6401-01 TCGA-DU-6401-10 Untested Somatic Phase_I WXS none Illumina GAIIx 260 50 ENST00000435339.3:c.202A>G p.Met68Val p.M68V ENST00000435339 NM_005296.2 68 Atg/Gtg 0 0.358 CTGTTTCCGCATGAAAATGAG PTCD1 26024 broad.mit.edu;ucsc.edu GRCh37 7 99026819 99026819 + synonymous_variant Silent SNP G G A TCGA-DU-6401-01 TCGA-DU-6401-10 Untested Somatic Phase_I WXS none Illumina GAIIx 92 10 ENST00000413834.1:c.969C>T p.Ile323= p.I323= ENST00000413834 323 atC/atT 0 0.557 GCCCTTTGTGGATGATTTCCT XPO6 23214 broad.mit.edu;ucsc.edu GRCh37 16 28137080 28137080 + missense_variant Missense_Mutation SNP G G A TCGA-DU-6401-01 TCGA-DU-6401-10 Untested Somatic Phase_I WXS none Illumina GAIIx 117 29 ENST00000304658.5:c.1696C>T p.Arg566Cys p.R566C ENST00000304658 NM_015171.3 566 Cgc/Tgc 0 0.582 TCGGCCAGGCGGCCCACGGCC ESCO2 157570 broad.mit.edu;hgsc.bcm.edu GRCh37 8 27634263 27634266 + frameshift_variant Frame_Shift_Del DEL TAAG TAAG - TCGA-DU-6401-01 TCGA-DU-6401-10 Untested Somatic Phase_I WXS none Illumina GAIIx 38 23 ENST00000305188.8:c.440_443delAGTA p.Lys147IlefsTer23 p.K147Ifs*23 ENST00000305188 NM_001017420.2 146 gcTAAG/gc 0 0.353 GTTTAACTGCTAAGTATCAACCAA ATRX 546 broad.mit.edu;hgsc.bcm.edu GRCh37 X 76939673 76939674 + frameshift_variant Frame_Shift_Ins INS - - T TCGA-DU-6401-01 TCGA-DU-6401-10 Untested Somatic Phase_I WXS none Illumina GAIIx 94 52 ENST00000373344.5:c.1074dupA p.Leu359ThrfsTer3 p.L359Tfs*3 ENST00000373344 NM_000489.3 358 -/A 0 0.366 GTCTCAATCAGTTTTTTTGCCT ANK3 288 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 10 61958113 61958113 + synonymous_variant Silent SNP T T C TCGA-HT-7606-01 TCGA-HT-7606-10 Untested Somatic Phase_I WXS none Illumina GAIIx 19 14 ENST00000280772.2:c.1674A>G p.Leu558= p.L558= ENST00000280772 NM_020987.3 558 ttA/ttG 0 0.498 TTGTTATAGATAAAGACGCTC OR2AG2 338755 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 11 6789589 6789589 + synonymous_variant Silent SNP G G A TCGA-HT-7606-01 TCGA-HT-7606-10 Untested Somatic Phase_I WXS none Illumina GAIIx 18 10 ENST00000338569.2:c.600C>T p.Tyr200= p.Y200= ENST00000338569 NM_001004490.1 200 taC/taT 0 0.493 CACCTGTCACGTATATTATAA SIPA1 6494 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 11 65408733 65408733 + missense_variant Missense_Mutation SNP G G A TCGA-HT-7606-01 TCGA-HT-7606-10 Untested Somatic Phase_I WXS none Illumina GAIIx 105 67 ENST00000394224.3:c.341G>A p.Arg114Gln p.R114Q ENST00000394224 NM_153253.29 114 cGa/cAa 0 0.632 CTTGAGCCTCGATGGTTTGCC PLEKHA5 54477 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 12 19489486 19489486 + missense_variant Missense_Mutation SNP A A C TCGA-HT-7606-01 TCGA-HT-7606-10 Untested Somatic Phase_I WXS none Illumina GAIIx 40 26 ENST00000429027.2:c.2486A>C p.Glu829Ala p.E829A ENST00000429027 NM_001256470.1 829 gAa/gCa 0 0.348 GATAAGTTAGAATACGATGTA LRRK1 79705 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 15 101588788 101588788 + synonymous_variant Silent SNP A A G TCGA-HT-7606-01 TCGA-HT-7606-10 Untested Somatic Phase_I WXS none Illumina GAIIx 35 58 ENST00000388948.3:c.3225A>G p.Thr1075= p.T1075= ENST00000388948 NM_024652.3 1075 acA/acG 0 0.448 GCTGTAGCACATTCAGAGTGA TP53 7157 hgsc.bcm.edu;broad.mit.edu GRCh37 17 7577121 7577121 + missense_variant Missense_Mutation SNP G G A rs121913343 TCGA-HT-7606-01 TCGA-HT-7606-10 Untested Somatic Phase_I WXS none Illumina GAIIx 0 9 ENST00000269305.4:c.817C>T p.Arg273Cys p.R273C ENST00000269305 NM_001126112.2 273 Cgt/Tgt 0 0.542 GCACAAACACGCACCTCAAAG GAS2L2 246176 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 34079638 34079638 + missense_variant Missense_Mutation SNP C C T TCGA-HT-7606-01 TCGA-HT-7606-10 Untested Somatic Phase_I WXS none Illumina GAIIx 38 23 ENST00000254466.6:c.232G>A p.Ala78Thr p.A78T ENST00000254466 NM_139285.3 78 Gcc/Acc 0 0.652 GCCAGGAAGGCCAGGGCAGCG HELZ 9931 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 65174991 65174991 + missense_variant Missense_Mutation SNP C C T TCGA-HT-7606-01 TCGA-HT-7606-10 Untested Somatic Phase_I WXS none Illumina GAIIx 37 17 ENST00000358691.5:c.1214G>A p.Arg405His p.R405H ENST00000358691 NM_014877.3 405 cGt/cAt 0 0.348 AGAATCCCAACGTTTAGCTGT EPS15L1 58513 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 19 16487940 16487940 + synonymous_variant Silent SNP C C T TCGA-HT-7606-01 TCGA-HT-7606-10 Untested Somatic Phase_I WXS none Illumina GAIIx 23 15 ENST00000455140.2:c.2373G>A p.Pro791= p.P791= ENST00000455140 NM_001258374.1 791 ccG/ccA 0 0.612 GACCGCTGGGCGGTTTAGGCC FGR 2268 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 27943402 27943402 + synonymous_variant Silent SNP G G A TCGA-HT-7606-01 TCGA-HT-7606-10 Untested Somatic Phase_I WXS none Illumina GAIIx 141 70 ENST00000374005.3:c.648C>T p.Phe216= p.F216= ENST00000374005 NM_005248.2 216 ttC/ttT 0 0.562 GCACCGAGTTGAACTGAACCC ZSCAN20 7579 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 33960425 33960425 + synonymous_variant Silent SNP T T G TCGA-HT-7606-01 TCGA-HT-7606-10 Untested Somatic Phase_I WXS none Illumina GAIIx 154 93 ENST00000361328.3:c.2481T>G p.Pro827= p.P827= ENST00000361328 NM_145238.3 827 ccT/ccG 0 0.448 GTAGTGAGCCTGGGGGAAACT LRRC8D 55144 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 90400076 90400076 + synonymous_variant Silent SNP C C T TCGA-HT-7606-01 TCGA-HT-7606-10 Untested Somatic Phase_I WXS none Illumina GAIIx 34 13 ENST00000337338.5:c.1449C>T p.Pro483= p.P483= ENST00000337338 NM_001134479.1 483 ccC/ccT 0 0.468 CGGGGGTGCCCGATGCTGTCT CFHR5 81494 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 196953247 196953247 + missense_variant Missense_Mutation SNP C C T TCGA-HT-7606-01 TCGA-HT-7606-10 Untested Somatic Phase_I WXS none Illumina GAIIx 49 21 ENST00000256785.4:c.410C>T p.Pro137Leu p.P137L ENST00000256785 137 cCt/cTt 0 0.348 TGGTCCACTCCTCCCATATGC ASPM 259266 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 197091601 197091601 + missense_variant Missense_Mutation SNP G G A TCGA-HT-7606-01 TCGA-HT-7606-10 Untested Somatic Phase_I WXS none Illumina GAIIx 25 11 ENST00000367409.4:c.3515C>T p.Thr1172Met p.T1172M ENST00000367409 NM_018136.4 1172 aCg/aTg 0 0.413 ACCAGTTTGCGTACATTCCAC SLC25A1 6576 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 22 19164192 19164192 + missense_variant Missense_Mutation SNP T T G TCGA-HT-7606-01 TCGA-HT-7606-10 Untested Somatic Phase_I WXS none Illumina GAIIx 26 12 ENST00000215882.5:c.646A>C p.Lys216Gln p.K216Q ENST00000215882 NM_005984.3 216 Aag/Cag 0 0.592 TTCATGGGCTTGTTGGGGTTG IDH1 3417 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T rs121913500 TCGA-HT-7606-01 TCGA-HT-7606-10 Untested Somatic Phase_I WXS none Illumina GAIIx 56 35 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 0.393 ATAAGCATGACGACCTATGAT VIL1 7429 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 219295519 219295519 + synonymous_variant Silent SNP C C T TCGA-HT-7606-01 TCGA-HT-7606-10 Untested Somatic Phase_I WXS none Illumina GAIIx 47 19 ENST00000248444.5:c.1020C>T p.Ala340= p.A340= ENST00000248444 NM_007127.2 340 gcC/gcT 0 0.597 CTGAGTCGGCCGTCTTTCAGC PCDHA11 56138 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 5 140249016 140249016 + missense_variant Missense_Mutation SNP G G A TCGA-HT-7606-01 TCGA-HT-7606-10 Untested Somatic Phase_I WXS none Illumina GAIIx 171 147 ENST00000398640.2:c.328G>A p.Val110Met p.V110M ENST00000398640 NM_018902.3 110 Gtg/Atg 0 0.552 GGAGGTGATCGTGGACAGGCC DUSP22 56940 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 6 348774 348774 + synonymous_variant Silent SNP G G T TCGA-HT-7606-01 TCGA-HT-7606-10 Untested Somatic Phase_I WXS none Illumina GAIIx 103 24 ENST00000344450.5:c.441G>T p.Arg147= p.R147= ENST00000344450 NM_020185.3 147 cgG/cgT 0 0.522 TCCAGTATCGGCAGTGGCTGA FIGNL1 63979 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 7 50513534 50513534 + synonymous_variant Silent SNP T T C TCGA-HT-7606-01 TCGA-HT-7606-10 Untested Somatic Phase_I WXS none Illumina GAIIx 84 50 ENST00000419119.1:c.1452A>G p.Ala484= p.A484= ENST00000419119 484 gcA/gcG 0 0.443 CAGCAAACAATGCACGGACCA ZNF138 7697 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 7 64292367 64292367 + missense_variant Missense_Mutation SNP A A C TCGA-HT-7606-01 TCGA-HT-7606-10 Untested Somatic Phase_I WXS none Illumina GAIIx 19 16 ENST00000440155.2:c.669A>C p.Lys223Asn p.K223N ENST00000440155 NM_006524.3 223 aaA/aaC 0 0.368 CTGGAGAAAAACCCTATAAAT SEMA3C 10512 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 7 80374454 80374454 + missense_variant Missense_Mutation SNP G G A TCGA-HT-7606-01 TCGA-HT-7606-10 Untested Somatic Phase_I WXS none Illumina GAIIx 39 24 ENST00000265361.3:c.2012C>T p.Thr671Met p.T671M ENST00000265361 NM_006379.3 671 aCg/aTg 0 0.478 CCATTTGTCCGTCACAACAGC JPH1 56704 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 8 75171665 75171665 + missense_variant Missense_Mutation SNP C C T TCGA-HT-7606-01 TCGA-HT-7606-10 Untested Somatic Phase_I WXS none Illumina GAIIx 26 18 ENST00000342232.4:c.1213G>A p.Ala405Thr p.A405T ENST00000342232 NM_020647.2 405 Gcg/Acg 0 0.607 ACAGCTCTCGCGATGTCGCAC NUDCD1 84955 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 8 110287672 110287672 + missense_variant Missense_Mutation SNP A A C TCGA-HT-7606-01 TCGA-HT-7606-10 Untested Somatic Phase_I WXS none Illumina GAIIx 31 11 ENST00000239690.4:c.1082T>G p.Val361Gly p.V361G ENST00000239690 NM_032869.3 361 gTa/gGa 0 0.383 ATCTCCAATTACTAGCTCTGG EPPK1 83481 hgsc.bcm.edu;broad.mit.edu GRCh37 8 144940576 144940576 + synonymous_variant Silent SNP C C T TCGA-HT-7606-01 TCGA-HT-7606-10 Untested Somatic Phase_I WXS none Illumina GAIIx 73 4 ENST00000525985.1:c.6846G>A p.Ser2282= p.S2282= ENST00000525985 NM_031308.2 2282 tcG/tcA 0 0.736 CCTCCTCCACCGACAGCCTCA ZFP37 7539 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 9 115811700 115811700 + synonymous_variant Silent SNP T T C TCGA-HT-7606-01 TCGA-HT-7606-10 Untested Somatic Phase_I WXS none Illumina GAIIx 7 27 ENST00000374227.3:c.291A>G p.Arg97= p.R97= ENST00000374227 97 agA/agG 0 0.403 CTTGACTGGGTCTTTTCCCCT DDX31 64794 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 9 135522404 135522404 + missense_variant Missense_Mutation SNP T T C TCGA-HT-7606-01 TCGA-HT-7606-10 Untested Somatic Phase_I WXS none Illumina GAIIx 60 40 ENST00000372159.3:c.1324A>G p.Ser442Gly p.S442G ENST00000372159 NM_022779.7 442 Agt/Ggt 0 0.493 ACAGAAATACTGACTGGATCA GSPT2 23708 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 51488448 51488448 + missense_variant Missense_Mutation SNP G G A TCGA-HT-7606-01 TCGA-HT-7606-10 Untested Somatic Phase_I WXS none Illumina GAIIx 24 24 ENST00000340438.4:c.1726G>A p.Val576Met p.V576M ENST00000340438 NM_018094.4 576 Gtg/Atg 0 0.418 ACCCCGCTTCGTGAAACAAGA ZCCHC5 203430 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 77912924 77912924 + missense_variant Missense_Mutation SNP G G T TCGA-HT-7606-01 TCGA-HT-7606-10 Untested Somatic Phase_I WXS none Illumina GAIIx 23 9 ENST00000321110.1:c.994C>A p.Leu332Ile p.L332I ENST00000321110 NM_152694.2 332 Ctc/Atc 0 0.463 CCTTGGCAGAGTTGATGGATG TENM1 10178 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 123525932 123525932 + synonymous_variant Silent SNP C C T TCGA-HT-7606-01 TCGA-HT-7606-10 Untested Somatic Phase_I WXS none Illumina GAIIx 8 15 ENST00000422452.2:c.5658G>A p.Gly1886= p.G1886= ENST00000422452 NM_001163279.1 1886 ggG/ggA 0 0.378 TCCAAATTTTCCCATCAGCCC KCNJ8 3764 broad.mit.edu;ucsc.edu GRCh37 12 21926252 21926252 + missense_variant Missense_Mutation SNP T T C TCGA-HT-7606-01 TCGA-HT-7606-10 Untested Somatic Phase_I WXS none Illumina GAIIx 37 34 ENST00000240662.2:c.299A>G p.Asp100Gly p.D100G ENST00000240662 NM_004982.3 100 gAc/gGc 0 0.507 AGCATAGATGTCCCCATGGGC SMARCA4 6597 broad.mit.edu;ucsc.edu GRCh37 19 11132434 11132434 + missense_variant Missense_Mutation SNP C C A TCGA-HT-7606-01 TCGA-HT-7606-10 Untested Somatic Phase_I WXS none Illumina GAIIx 19 14 ENST00000344626.4:c.2650C>A p.His884Asn p.H884N ENST00000344626 NM_003072.3 884 Cac/Aac 0 0.622 GGACGAAGGTCACCGCATGAA PCDH18 54510 broad.mit.edu;ucsc.edu GRCh37 4 138452008 138452008 + missense_variant Missense_Mutation SNP T T C TCGA-HT-7606-01 TCGA-HT-7606-10 Untested Somatic Phase_I WXS none Illumina GAIIx 26 3 ENST00000344876.4:c.1235A>G p.Glu412Gly p.E412G ENST00000344876 NM_019035.3 412 gAa/gGa 0 0.403 ATAATTGTTTTCATATGTCTT RBM41 55285 broad.mit.edu;hgsc.bcm.edu GRCh37 X 106331986 106331986 + frameshift_variant Frame_Shift_Del DEL C C - TCGA-HT-7606-01 TCGA-HT-7606-10 Untested Somatic Phase_I WXS none Illumina GAIIx 26 15 ENST00000372479.3:c.607delG p.Glu203LysfsTer6 p.E203Kfs*6 ENST00000372479 NM_018301.3 203 Gaa/aa 0 0.428 TGAAACTCTTCAAGACGTTTT ARMC3 219681 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 10 23292319 23292319 + synonymous_variant Silent SNP C C T TCGA-DU-8158-01 TCGA-DU-8158-10 Untested Somatic Phase_I WXS none Illumina GAIIx 73 59 ENST00000298032.5:c.1707C>T p.Asn569= p.N569= ENST00000298032 NM_173081.3 569 aaC/aaT 0 0.323 ACATAATTAACGATGGATTCT ATG16L2 89849 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 11 72528829 72528829 + missense_variant Missense_Mutation SNP G G C TCGA-DU-8158-01 TCGA-DU-8158-10 Untested Somatic Phase_I WXS none Illumina GAIIx 40 15 ENST00000321297.5:c.247G>C p.Val83Leu p.V83L ENST00000321297 NM_033388.1 83 Gtc/Ctc 0 0.587 CTCAGACCAAGTCCCATCACT BCL9L 283149 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 11 118772576 118772576 + missense_variant Missense_Mutation SNP T T C TCGA-DU-8158-01 TCGA-DU-8158-10 Untested Somatic Phase_I WXS none Illumina GAIIx 29 14 ENST00000334801.3:c.1876A>G p.Met626Val p.M626V ENST00000334801 NM_182557.2 626 Atg/Gtg 0 0.622 ATGGCATTCATGGGCACCTCC WNK1 65125 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 12 994382 994382 + missense_variant Missense_Mutation SNP C C T TCGA-DU-8158-01 TCGA-DU-8158-10 Untested Somatic Phase_I WXS none Illumina GAIIx 86 29 ENST00000315939.6:c.4412C>T p.Pro1471Leu p.P1471L ENST00000315939 NM_018979.3 1471 cCt/cTt 0 0.507 GGTCCTAAGCCTCCAGCTGTA PSMC6 5706 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 14 53175072 53175072 + missense_variant Missense_Mutation SNP A A G TCGA-DU-8158-01 TCGA-DU-8158-10 Untested Somatic Phase_I WXS none Illumina GAIIx 21 25 ENST00000445930.2:c.173A>G p.Glu58Gly p.E58G ENST00000445930 58 gAa/gGa 0 0.353 GAAAAGTCTGAAAATGATCTG COPS2 9318 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 15 49447771 49447771 + missense_variant Missense_Mutation SNP G G C TCGA-DU-8158-01 TCGA-DU-8158-10 Untested Somatic Phase_I WXS none Illumina GAIIx 56 49 ENST00000299259.6:c.5C>G p.Ser2Cys p.S2C ENST00000299259 2 tCt/tGt 0 0.557 CTCCATGTCAGACATCTTGGC PDE8A 5151 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 15 85610300 85610300 + missense_variant Missense_Mutation SNP G G A TCGA-DU-8158-01 TCGA-DU-8158-10 Untested Somatic Phase_I WXS none Illumina GAIIx 41 45 ENST00000310298.4:c.299G>A p.Cys100Tyr p.C100Y ENST00000310298 100 tGt/tAt 0 0.383 TGCAGGGCATGTGAAAAAGCA DHX38 9785 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 16 72132924 72132924 + missense_variant Missense_Mutation SNP C C T rs148934675 TCGA-DU-8158-01 TCGA-DU-8158-10 Untested Somatic Phase_I WXS none Illumina GAIIx 36 20 ENST00000268482.3:c.863C>T p.Pro288Leu p.P288L ENST00000268482 NM_014003.3 288 cCg/cTg 0 0.617 GGGTCCACCCCGCGTCTGTCC ZFHX3 463 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 16 72993684 72993684 + missense_variant Missense_Mutation SNP C C A TCGA-DU-8158-01 TCGA-DU-8158-10 Untested Somatic Phase_I WXS none Illumina GAIIx 117 23 ENST00000268489.5:c.361G>T p.Asp121Tyr p.D121Y ENST00000268489 NM_006885.3 121 Gac/Tac 0 0.687 CTCTCCTCGTCCCCCTCCTCA PLCG2 5336 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 16 81953235 81953235 + missense_variant Missense_Mutation SNP C C A TCGA-DU-8158-01 TCGA-DU-8158-10 Untested Somatic Phase_I WXS none Illumina GAIIx 72 28 ENST00000359376.3:c.2201C>A p.Pro734His p.P734H ENST00000359376 NM_002661.3 734 cCc/cAc 0 0.517 CTGCGCTACCCCGTGACCCCC METTL16 79066 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 2324130 2324130 + synonymous_variant Silent SNP G G A TCGA-DU-8158-01 TCGA-DU-8158-10 Untested Somatic Phase_I WXS none Illumina GAIIx 237 104 ENST00000263092.6:c.957C>T p.Ser319= p.S319= ENST00000263092 NM_024086.3 319 tcC/tcT 0 0.453 CCTTCATCACGGACGCCAGCA ALDH4A1 8659 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 19209803 19209803 + synonymous_variant Silent SNP G G A TCGA-DU-8158-01 TCGA-DU-8158-10 Untested Somatic Phase_I WXS none Illumina GAIIx 97 21 ENST00000375341.3:c.573C>T p.Ser191= p.S191= ENST00000375341 NM_003748.3 191 agC/agT 0 0.647 TGCTGTTGGTGCTCGGGGGCA ALDH4A1 8659 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 19209838 19209838 + missense_variant Missense_Mutation SNP G G C TCGA-DU-8158-01 TCGA-DU-8158-10 Untested Somatic Phase_I WXS none Illumina GAIIx 69 24 ENST00000375341.3:c.538C>G p.Leu180Val p.L180V ENST00000375341 NM_003748.3 180 Ctg/Gtg 0 0.642 TGCCCCTCCAGCTCCACCGCA TMEM39B 55116 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 32542835 32542835 + missense_variant Missense_Mutation SNP C C T TCGA-DU-8158-01 TCGA-DU-8158-10 Untested Somatic Phase_I WXS none Illumina GAIIx 187 19 ENST00000336294.5:c.506C>T p.Thr169Met p.T169M ENST00000336294 NM_018056.2 169 aCg/aTg 0 0.592 ACCGTTCTCACGGCAACAGGC TOR1AIP1 26092 hgsc.bcm.edu;ucsc.edu GRCh37 1 179876983 179876983 + missense_variant Missense_Mutation SNP G G C TCGA-DU-8158-01 TCGA-DU-8158-10 Untested Somatic Phase_I WXS none Illumina GAIIx 38 4 ENST00000606911.2:c.822G>C p.Lys274Asn p.K274N ENST00000606911 274 aaG/aaC 0 0.328 CTCATGATAAGCAACCTTCAG BRINP3 339479 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 190067492 190067492 + missense_variant Missense_Mutation SNP C C T TCGA-DU-8158-01 TCGA-DU-8158-10 Untested Somatic Phase_I WXS none Illumina GAIIx 59 38 ENST00000367462.3:c.1957G>A p.Asp653Asn p.D653N ENST00000367462 NM_199051.1 653 Gac/Aac 0 0.428 CGGGAAGGGTCAATAAACTCC HSPA13 6782 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 21 15748040 15748040 + synonymous_variant Silent SNP G G A TCGA-DU-8158-01 TCGA-DU-8158-10 Untested Somatic Phase_I WXS none Illumina GAIIx 116 37 ENST00000285667.3:c.681C>T p.Gly227= p.G227= ENST00000285667 NM_006948.4 227 ggC/ggT 0 0.483 GAGTTCCTCCGCCCAAGTCTA BCR 613 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 22 23631729 23631729 + synonymous_variant Silent SNP C C G TCGA-DU-8158-01 TCGA-DU-8158-10 Untested Somatic Phase_I WXS none Illumina GAIIx 36 24 ENST00000305877.8:c.2628C>G p.Ser876= p.S876= ENST00000305877 NM_004327.3 876 tcC/tcG 0 0.572 CCCTGACATCCGTGGAGCTGC LRP1B 53353 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 141274478 141274478 + missense_variant Missense_Mutation SNP C C G TCGA-DU-8158-01 TCGA-DU-8158-10 Untested Somatic Phase_I WXS none Illumina GAIIx 97 35 ENST00000389484.3:c.8129G>C p.Gly2710Ala p.G2710A ENST00000389484 NM_018557.2 2710 gGa/gCa 0 0.328 TTCATCACGTCCATCCTCACA DNAH7 56171 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 196877622 196877622 + missense_variant Missense_Mutation SNP C C T TCGA-DU-8158-01 TCGA-DU-8158-10 Untested Somatic Phase_I WXS none Illumina GAIIx 26 20 ENST00000312428.6:c.878G>A p.Arg293His p.R293H ENST00000312428 NM_018897.2 293 cGt/cAt 0 0.279 ATCAACTAAACGTAATTTTCT CACNA1D 776 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 3 53837571 53837571 + missense_variant Missense_Mutation SNP G G C TCGA-DU-8158-01 TCGA-DU-8158-10 Untested Somatic Phase_I WXS none Illumina GAIIx 215 97 ENST00000288139.4:c.5617G>C p.Glu1873Gln p.E1873Q ENST00000288139 NM_000720.3 1873 Gag/Cag 0 0.617 GGAATGCTACGAGGATGACAG SLITRK3 22865 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 3 164906713 164906713 + missense_variant Missense_Mutation SNP G G T TCGA-DU-8158-01 TCGA-DU-8158-10 Untested Somatic Phase_I WXS none Illumina GAIIx 34 11 ENST00000475390.1:c.1906C>A p.Pro636Thr p.P636T ENST00000475390 636 Cca/Aca 0 0.527 GCACTGGTTGGTGCCCCAATA GABRA1 2554 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 5 161324195 161324195 + missense_variant Missense_Mutation SNP G G C TCGA-DU-8158-01 TCGA-DU-8158-10 Untested Somatic Phase_I WXS none Illumina GAIIx 138 44 ENST00000428797.2:c.1138G>C p.Ala380Pro p.A380P ENST00000428797 NM_001127643.1 380 Gcc/Ccc 0 0.458 CCCTAATTTGGCCAGGGGCGA EGFR 1956 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 7 55211008 55211008 + missense_variant Missense_Mutation SNP A A T TCGA-DU-8158-01 TCGA-DU-8158-10 Untested Somatic Phase_I WXS none Illumina GAIIx 90 32 ENST00000275493.2:c.251A>T p.Glu84Val p.E84V ENST00000275493 NM_005228.3 84 gAg/gTg 0 0.448 ACCATCCAGGAGGTGGCTGGT SEMA3E 9723 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 7 83119551 83119551 + missense_variant Missense_Mutation SNP G G T TCGA-DU-8158-01 TCGA-DU-8158-10 Untested Somatic Phase_I WXS none Illumina GAIIx 59 20 ENST00000307792.3:c.155C>A p.Pro52His p.P52H ENST00000307792 NM_012431.2 52 cCt/cAt 0 0.413 AAATCCAAAAGGGCTATGAAA RNF19A 25897 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 8 101287238 101287238 + missense_variant Missense_Mutation SNP G G A TCGA-DU-8158-01 TCGA-DU-8158-10 Untested Somatic Phase_I WXS none Illumina GAIIx 77 27 ENST00000519449.1:c.826C>T p.Arg276Cys p.R276C ENST00000519449 NM_015435.4 276 Cgt/Tgt 0 0.418 GTTCTCAAACGTAAGCTCTGG SLC45A4 57210 hgsc.bcm.edu;broad.mit.edu GRCh37 8 142231748 142231748 + missense_variant Missense_Mutation SNP G G A TCGA-DU-8158-01 TCGA-DU-8158-10 Untested Somatic Phase_I WXS none Illumina GAIIx 88 6 ENST00000024061.3:c.205C>T p.Arg69Trp p.R69W ENST00000024061 NM_001080431.1 69 Cgg/Tgg 0 0.617 ATGAAGGGCCGCCGGCGGCCC EPPK1 83481 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 8 144945911 144945911 + missense_variant Missense_Mutation SNP C C T TCGA-DU-8158-01 TCGA-DU-8158-10 Untested Somatic Phase_I WXS none Illumina GAIIx 17 8 ENST00000525985.1:c.1511G>A p.Arg504Gln p.R504Q ENST00000525985 NM_031308.2 504 cGg/cAg 0 0.677 GGGCCGGCCCCGGAACTTCCC APBA1 320 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 9 72131516 72131516 + missense_variant Missense_Mutation SNP G G T TCGA-DU-8158-01 TCGA-DU-8158-10 Untested Somatic Phase_I WXS none Illumina GAIIx 17 15 ENST00000265381.4:c.611C>A p.Ala204Glu p.A204E ENST00000265381 NM_001163.3 204 gCg/gAg 0 0.721 CAGCTCGGGCGCGTCCCCTAT APOO 79135 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 23899066 23899066 + missense_variant Missense_Mutation SNP T T A TCGA-DU-8158-01 TCGA-DU-8158-10 Untested Somatic Phase_I WXS none Illumina GAIIx 47 36 ENST00000379226.4:c.13A>T p.Ile5Phe p.I5F ENST00000379226 NM_024122.4 5 Att/Ttt 0 0.478 GACCTCTGAATTACCTGAAAT HLTF 6596 broad.mit.edu;ucsc.edu GRCh37 3 148792096 148792096 + synonymous_variant Silent SNP A A C TCGA-DU-8158-01 TCGA-DU-8158-10 Untested Somatic Phase_I WXS none Illumina GAIIx 23 34 ENST00000310053.5:c.435T>G p.Pro145= p.P145= ENST00000310053 NM_003071.3 145 ccT/ccG 0 0.363 TCATATGCAGAGGCATGGTAA LUZP4 51213 broad.mit.edu;ucsc.edu GRCh37 X 114541268 114541268 + missense_variant Missense_Mutation SNP G G A TCGA-DU-8158-01 TCGA-DU-8158-10 Untested Somatic Phase_I WXS none Illumina GAIIx 114 23 ENST00000371920.3:c.841G>A p.Val281Met p.V281M ENST00000371920 NM_016383.3 281 Gtg/Atg 0 0.428 GAGAGATCTCGTGGCCACTGA PGM3 5238 broad.mit.edu;ucsc.edu GRCh37 6 83884095 83884095 + missense_variant,splice_region_variant Missense_Mutation SNP G G T TCGA-DU-8158-01 TCGA-DU-8158-10 Untested Somatic Phase_I WXS none Illumina GAIIx 7 3 ENST00000506587.1:c.1324C>A p.Gln442Lys p.Q442K ENST00000506587 NM_001199917.1 442 Cag/Aag 0 0.383 GTTCTGACCTGGTTAAACAAG KIF1B 23095 broad.mit.edu;ucsc.edu GRCh37 1 10386237 10386237 + missense_variant Missense_Mutation SNP C C T TCGA-DU-8158-01 TCGA-DU-8158-10 Untested Somatic Phase_I WXS none Illumina GAIIx 250 21 ENST00000263934.6:c.2606C>T p.Thr869Met p.T869M ENST00000263934 NM_015074.3 869 aCg/aTg 0 0.572 ACTTTTTCCACGGCCGATTCC DNAH11 8701 broad.mit.edu;ucsc.edu GRCh37 7 21640450 21640450 + missense_variant Missense_Mutation SNP C C T TCGA-DU-8158-01 TCGA-DU-8158-10 Untested Somatic Phase_I WXS none Illumina GAIIx 160 57 ENST00000328843.6:c.3157C>T p.Leu1053Phe p.L1053F ENST00000328843 1053 Ctc/Ttc 0 0.438 GAAGCATTTTCTCTTGTATGG KIF19 124602 broad.mit.edu;ucsc.edu GRCh37 17 72343952 72343952 + missense_variant Missense_Mutation SNP G G A TCGA-DU-8158-01 TCGA-DU-8158-10 Untested Somatic Phase_I WXS none Illumina GAIIx 8 3 ENST00000389916.4:c.961G>A p.Ala321Thr p.A321T ENST00000389916 NM_153209.3 321 Gct/Act 0 0.627 AGTGATGATCGCTCACATCAG DCAF12L1 139170 broad.mit.edu;ucsc.edu GRCh37 X 125686452 125686452 + missense_variant Missense_Mutation SNP G G A TCGA-DU-8158-01 TCGA-DU-8158-10 Untested Somatic Phase_I WXS none Illumina GAIIx 54 21 ENST00000371126.1:c.140C>T p.Thr47Met p.T47M ENST00000371126 NM_178470.4 47 aCg/aTg 0 0.721 CGAGCGATACGTCGCCGGCCG PTEN 5728 broad.mit.edu;hgsc.bcm.edu GRCh37 10 89717715 89717716 + frameshift_variant Frame_Shift_Ins INS - - A TCGA-DU-8158-01 TCGA-DU-8158-10 Untested Somatic Phase_I WXS none Illumina GAIIx 56 48 ENST00000371953.3:c.741dupA p.Pro248ThrfsTer5 p.P248Tfs*5 ENST00000371953 NM_000314.4 247 tta/ttAa 0 0.406 CCTCAGCCGTTACCTGTGTGTG BACH1 571 broad.mit.edu;hgsc.bcm.edu GRCh37 21 30699512 30699513 + frameshift_variant Frame_Shift_Del DEL TA TA - rs145991657 TCGA-DU-8158-01 TCGA-DU-8158-10 Untested Somatic Phase_I WXS none Illumina GAIIx 52 29 ENST00000399921.1:c.1367_1368delTA p.Leu456Ter p.L456* ENST00000399921 NM_206866.1 456 tTA/t 0 0.436 TTCACAACATTAAGTTCTGTCA CUBN 8029 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 10 16990512 16990512 + missense_variant Missense_Mutation SNP C C G TCGA-HT-7470-01 TCGA-HT-7470-10 Untested Somatic Phase_I WXS none Illumina GAIIx 62 15 ENST00000377833.4:c.5174G>C p.Gly1725Ala p.G1725A ENST00000377833 NM_001081.3 1725 gGg/gCg 0 0.512 GTGGAAACCCCCAGCACTGAT OR52E8 390079 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 11 5878264 5878264 + stop_gained Nonsense_Mutation SNP A A C TCGA-HT-7470-01 TCGA-HT-7470-10 Untested Somatic Phase_I WXS none Illumina GAIIx 28 12 ENST00000537935.1:c.669T>G p.Tyr223Ter p.Y223* ENST00000537935 NM_001005168.1 223 taT/taG 0 0.463 GGATCCTGACATAGGAGAGAA LRP4 4038 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 11 46893136 46893136 + synonymous_variant Silent SNP G G A TCGA-HT-7470-01 TCGA-HT-7470-10 Untested Somatic Phase_I WXS none Illumina GAIIx 19 18 ENST00000378623.1:c.4632C>T p.Leu1544= p.L1544= ENST00000378623 NM_002334.3 1544 ctC/ctT 0 0.557 GTTTCCCATTGAGGTCAGCAC HTR3B 9177 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 11 113803068 113803068 + synonymous_variant Silent SNP C C A TCGA-HT-7470-01 TCGA-HT-7470-10 Untested Somatic Phase_I WXS none Illumina GAIIx 192 19 ENST00000260191.2:c.426C>A p.Thr142= p.T142= ENST00000260191 NM_006028.4 142 acC/acA 0 0.433 CATCTGGGACCATTGAGAACT SNX19 399979 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 11 130750571 130750571 + stop_gained Nonsense_Mutation SNP G G A TCGA-HT-7470-01 TCGA-HT-7470-10 Untested Somatic Phase_I WXS none Illumina GAIIx 263 52 ENST00000265909.4:c.2704C>T p.Gln902Ter p.Q902* ENST00000265909 NM_014758.2 902 Cag/Tag 0 0.517 GCCAGTTTCTGCTCTTGGGTC HMGA2 8091 hgsc.bcm.edu;broad.mit.edu GRCh37 12 66221789 66221789 + synonymous_variant Silent SNP C C T TCGA-HT-7470-01 TCGA-HT-7470-10 Untested Somatic Phase_I WXS none Illumina GAIIx 71 5 ENST00000403681.2:c.120C>T p.Thr40= p.T40= ENST00000403681 NM_003483.4 40 acC/acT 0 0.448 AGGAACCAACCGGTGAGCCCT PTPRB 5787 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 12 70954486 70954486 + missense_variant Missense_Mutation SNP T T C TCGA-HT-7470-01 TCGA-HT-7470-10 Untested Somatic Phase_I WXS none Illumina GAIIx 65 9 ENST00000334414.6:c.4397A>G p.Asp1466Gly p.D1466G ENST00000334414 NM_001109754.2 1466 gAt/gGt 0 0.512 ATTGCTGAGATCTCCACTGTG SHF 90525 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 15 45470424 45470424 + synonymous_variant Silent SNP T T C TCGA-HT-7470-01 TCGA-HT-7470-10 Untested Somatic Phase_I WXS none Illumina GAIIx 41 16 ENST00000290894.8:c.384A>G p.Pro128= p.P128= ENST00000290894 NM_138356.2 128 ccA/ccG 0 0.567 GGACCTTCTCTGGGGCTCCTG RHBDF1 64285 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 16 111434 111434 + synonymous_variant Silent SNP G G A TCGA-HT-7470-01 TCGA-HT-7470-10 Untested Somatic Phase_I WXS none Illumina GAIIx 56 7 ENST00000262316.6:c.1344C>T p.Tyr448= p.Y448= ENST00000262316 NM_022450.3 448 taC/taT 0 0.716 TGACGTTCTCGTAGACCCCGC PRSS22 64063 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 16 2906139 2906139 + synonymous_variant Silent SNP G G A TCGA-HT-7470-01 TCGA-HT-7470-10 Untested Somatic Phase_I WXS none Illumina GAIIx 99 17 ENST00000161006.3:c.225C>T p.Cys75= p.C75= ENST00000161006 NM_022119.3 75 tgC/tgT 0 0.617 GAGAACCTGCGCAGTGGTGGG ERCC4 2072 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 16 14031642 14031642 + missense_variant Missense_Mutation SNP G G A TCGA-HT-7470-01 TCGA-HT-7470-10 Untested Somatic Phase_I WXS none Illumina GAIIx 55 22 ENST00000311895.7:c.1831G>A p.Gly611Arg p.G611R ENST00000311895 NM_005236.2 611 Gga/Aga 0 0.363 TCTTATATACGGAGGTTCAAC ANKRD11 29123 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 16 89348104 89348104 + missense_variant Missense_Mutation SNP C C T TCGA-HT-7470-01 TCGA-HT-7470-10 Untested Somatic Phase_I WXS none Illumina GAIIx 110 23 ENST00000301030.4:c.4846G>A p.Gly1616Arg p.G1616R ENST00000301030 NM_001256183.1 1616 Gga/Aga 0 0.607 TTGGGGTCTCCGGACCGGTGC TP53 7157 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 7577121 7577121 + missense_variant Missense_Mutation SNP G G A rs121913343 TCGA-HT-7470-01 TCGA-HT-7470-10 Untested Somatic Phase_I WXS none Illumina GAIIx 13 28 ENST00000269305.4:c.817C>T p.Arg273Cys p.R273C ENST00000269305 NM_001126112.2 273 Cgt/Tgt 0 0.542 GCACAAACACGCACCTCAAAG MYO19 80179 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 34866651 34866651 + missense_variant Missense_Mutation SNP C C T TCGA-HT-7470-01 TCGA-HT-7470-10 Untested Somatic Phase_I WXS none Illumina GAIIx 13 7 ENST00000431794.3:c.1091G>A p.Arg364Gln p.R364Q ENST00000431794 NM_001163735.1 364 cGg/cAg 0 0.627 GCAGGGCTTCCGGAACACCTG FCGBP 8857 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 19 40357728 40357728 + synonymous_variant Silent SNP G G A TCGA-HT-7470-01 TCGA-HT-7470-10 Untested Somatic Phase_I WXS none Illumina GAIIx 40 12 ENST00000221347.6:c.15585C>T p.Ser5195= p.S5195= ENST00000221347 NM_003890.2 5195 agC/agT 0 0.587 AACAGCGCTCGCTGCAGTCTG PPP1R12C 54776 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 19 55605714 55605714 + missense_variant,splice_region_variant Missense_Mutation SNP T T G TCGA-HT-7470-01 TCGA-HT-7470-10 Untested Somatic Phase_I WXS none Illumina GAIIx 135 27 ENST00000263433.3:c.1682A>C p.Gln561Pro p.Q561P ENST00000263433 NM_017607.3 561 cAg/cCg 0 0.657 ACCCCACACCTGTGTGGACCT AGL 178 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 100346642 100346642 + missense_variant Missense_Mutation SNP C C T TCGA-HT-7470-01 TCGA-HT-7470-10 Untested Somatic Phase_I WXS none Illumina GAIIx 69 17 ENST00000294724.4:c.1910C>T p.Ala637Val p.A637V ENST00000294724 NM_000028.2 637 gCg/gTg 0 0.353 CATAGATCAGCGTATGATGCT CEPT1 10390 hgsc.bcm.edu;broad.mit.edu GRCh37 1 111726868 111726868 + missense_variant Missense_Mutation SNP C C T TCGA-HT-7470-01 TCGA-HT-7470-10 Untested Somatic Phase_I WXS none Illumina GAIIx 121 6 ENST00000545121.1:c.1187C>T p.Ala396Val p.A396V ENST00000545121 NM_001007794.1 396 gCg/gTg 0 0.398 AATCAGATTGCGTCTCACCTG TCHH 7062 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 152080904 152080904 + missense_variant Missense_Mutation SNP A A T rs71585886 TCGA-HT-7470-01 TCGA-HT-7470-10 Untested Somatic Phase_I WXS none Illumina GAIIx 73 35 ENST00000368804.1:c.4789T>A p.Phe1597Ile p.F1597I ENST00000368804 NM_007113.3 1597 Ttc/Atc 0 0.582 TCCTCCATGAATTTTCTCTCT CFH 3075 hgsc.bcm.edu;broad.mit.edu GRCh37 1 196642210 196642210 + missense_variant Missense_Mutation SNP C C A TCGA-HT-7470-01 TCGA-HT-7470-10 Untested Somatic Phase_I WXS none Illumina GAIIx 117 9 ENST00000367429.4:c.161C>A p.Pro54His p.P54H ENST00000367429 NM_000186.3 54 cCt/cAt 0 0.403 AAATGCCGCCCTGGATATAGA RYR2 6262 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 237872820 237872820 + missense_variant Missense_Mutation SNP C C T TCGA-HT-7470-01 TCGA-HT-7470-10 Untested Somatic Phase_I WXS none Illumina GAIIx 12 10 ENST00000366574.2:c.10183C>T p.Leu3395Phe p.L3395F ENST00000366574 NM_001035.2 3395 Ctc/Ttc 0 0.418 AGCAGAGGAGCTCTTCCGCAT ZNF638 27332 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 71590305 71590305 + missense_variant Missense_Mutation SNP A A C TCGA-HT-7470-01 TCGA-HT-7470-10 Untested Somatic Phase_I WXS none Illumina GAIIx 51 26 ENST00000409544.1:c.1402A>C p.Ile468Leu p.I468L ENST00000409544 NM_001252612.1 468 Atc/Ctc 0 0.264 GAATCCTGAGATCCTCCCATC IDH1 3417 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 209113113 209113113 + missense_variant Missense_Mutation SNP G G T rs121913499 TCGA-HT-7470-01 TCGA-HT-7470-10 Untested Somatic Phase_I WXS none Illumina GAIIx 107 34 ENST00000345146.2:c.394C>A p.Arg132Ser p.R132S ENST00000345146 NM_005896.2 132 Cgt/Agt 0 0.398 TAAGCATGACGACCTATGATG TRPM8 79054 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 234905020 234905020 + missense_variant Missense_Mutation SNP A A G TCGA-HT-7470-01 TCGA-HT-7470-10 Untested Somatic Phase_I WXS none Illumina GAIIx 82 9 ENST00000324695.4:c.2990A>G p.Gln997Arg p.Q997R ENST00000324695 NM_024080.4 997 cAg/cGg 0 0.537 TGGAAGTTCCAGAGGTACTTC KCNH8 131096 hgsc.bcm.edu;broad.mit.edu GRCh37 3 19575424 19575424 + missense_variant Missense_Mutation SNP G G T TCGA-HT-7470-01 TCGA-HT-7470-10 Untested Somatic Phase_I WXS none Illumina GAIIx 52 5 ENST00000328405.2:c.3157G>T p.Gly1053Cys p.G1053C ENST00000328405 NM_144633.2 1053 Ggc/Tgc 0 0.488 ATCAGAGGAGGGCAGCTTCAG ABI3BP 25890 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 3 100489774 100489774 + synonymous_variant Silent SNP T T C TCGA-HT-7470-01 TCGA-HT-7470-10 Untested Somatic Phase_I WXS none Illumina GAIIx 158 21 ENST00000284322.5:c.2421A>G p.Gln807= p.Q807= ENST00000284322 NM_015429.3 807 caA/caG 0 0.468 TGTCAGGCTTTTGGATGTATC GPR149 344758 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 3 154146852 154146852 + missense_variant Missense_Mutation SNP C C T TCGA-HT-7470-01 TCGA-HT-7470-10 Untested Somatic Phase_I WXS none Illumina GAIIx 47 7 ENST00000389740.2:c.553G>A p.Asp185Asn p.D185N ENST00000389740 NM_001038705.1 185 Gac/Aac 0 0.657 CTGGAGCAGTCCACCAGGCAG STATH 6779 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 4 70866654 70866654 + synonymous_variant Silent SNP A A G TCGA-HT-7470-01 TCGA-HT-7470-10 Untested Somatic Phase_I WXS none Illumina GAIIx 167 46 ENST00000246895.4:c.177A>G p.Gln59= p.Q59= ENST00000246895 NM_003154.2 59 caA/caG 0 0.373 AATACCAACAATATACCTTTT CAPSL 133690 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 5 35910530 35910530 + missense_variant Missense_Mutation SNP G G A TCGA-HT-7470-01 TCGA-HT-7470-10 Untested Somatic Phase_I WXS none Illumina GAIIx 89 18 ENST00000397367.2:c.253C>T p.Arg85Trp p.R85W ENST00000397367 NM_144647.3 85 Cgg/Tgg 0 0.358 TCAAACCTCCGGAAAAGTTCT SPOCK1 6695 hgsc.bcm.edu;ucsc.edu GRCh37 5 136324179 136324179 + missense_variant Missense_Mutation SNP G G A TCGA-HT-7470-01 TCGA-HT-7470-10 Untested Somatic Phase_I WXS none Illumina GAIIx 139 46 ENST00000394945.1:c.860C>T p.Ser287Leu p.S287L ENST00000394945 NM_004598.3 287 tCg/tTg 0 0.498 GGAGTCACACGAGTTGAAAAG RNF145 153830 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 5 158621725 158621725 + missense_variant,splice_region_variant Missense_Mutation SNP T T C TCGA-HT-7470-01 TCGA-HT-7470-10 Untested Somatic Phase_I WXS none Illumina GAIIx 155 65 ENST00000518802.1:c.382A>G p.Arg128Gly p.R128G ENST00000518802 NM_001199380.1 128 Agg/Ggg 0 0.363 TATTCTTACCTGGAAATTTGA COL19A1 1310 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 6 70877920 70877920 + missense_variant Missense_Mutation SNP A A G TCGA-HT-7470-01 TCGA-HT-7470-10 Untested Somatic Phase_I WXS none Illumina GAIIx 101 15 ENST00000322773.4:c.2449A>G p.Ile817Val p.I817V ENST00000322773 NM_001858.4 817 Att/Gtt 0 0.279 TCCTAAGGGTATTCCATTTAA PRDM1 639 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 6 106555167 106555167 + missense_variant Missense_Mutation SNP G G A TCGA-HT-7470-01 TCGA-HT-7470-10 Untested Somatic Phase_I WXS none Illumina GAIIx 63 28 ENST00000369096.4:c.2284G>A p.Val762Met p.V762M ENST00000369096 NM_001198.3 762 Gtg/Atg 0 0.478 AATTCTGGCCGTGGTCAGAAA MICAL1 64780 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 6 109770958 109770958 + missense_variant Missense_Mutation SNP T T C TCGA-HT-7470-01 TCGA-HT-7470-10 Untested Somatic Phase_I WXS none Illumina GAIIx 159 17 ENST00000358807.3:c.1336A>G p.Thr446Ala p.T446A ENST00000358807 NM_022765.3 446 Aca/Gca 0 0.607 TCTGGGGATGTCTGTGACAGA FOXB2 442425 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 9 79635448 79635448 + missense_variant Missense_Mutation SNP C C T TCGA-HT-7470-01 TCGA-HT-7470-10 Untested Somatic Phase_I WXS none Illumina GAIIx 61 17 ENST00000376708.1:c.878C>T p.Ser293Phe p.S293F ENST00000376708 NM_001013735.1 293 tCc/tTc 0 0.662 CCCTTGGCGTCCGTCATGCAC AKAP4 8852 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 49958837 49958837 + missense_variant Missense_Mutation SNP C C T TCGA-HT-7470-01 TCGA-HT-7470-10 Untested Somatic Phase_I WXS none Illumina GAIIx 62 49 ENST00000358526.2:c.527G>A p.Arg176His p.R176H ENST00000358526 NM_003886.2 176 cGt/cAt 0 0.443 CATTTCTAGACGTAGGTTTTG DOPEY1 23033 broad.mit.edu;ucsc.edu GRCh37 6 83839856 83839856 + stop_gained Nonsense_Mutation SNP C C T TCGA-HT-7470-01 TCGA-HT-7470-10 Untested Somatic Phase_I WXS none Illumina GAIIx 56 23 ENST00000349129.2:c.2356C>T p.Gln786Ter p.Q786* ENST00000349129 NM_015018.3 786 Cag/Tag 0 0.418 TGAGCATGTGCAGCCTCCACA NOTCH1 4851 broad.mit.edu;ucsc.edu GRCh37 9 139411837 139411837 + missense_variant,splice_region_variant Missense_Mutation SNP C C A TCGA-HT-7470-01 TCGA-HT-7470-10 Untested Somatic Phase_I WXS none Illumina GAIIx 9 4 ENST00000277541.6:c.1442G>T p.Gly481Val p.G481V ENST00000277541 NM_017617.3 481 gGc/gTc 0 0.647 ACCCTCGTAGCCTGTGGGGTG SRPK2 6733 broad.mit.edu;ucsc.edu GRCh37 7 104782648 104782648 + synonymous_variant Silent SNP T T C rs56003957 byFrequency TCGA-HT-7470-01 TCGA-HT-7470-10 Untested Somatic Phase_I WXS none Illumina GAIIx 131 23 ENST00000393651.3:c.1350A>G p.Pro450= p.P450= ENST00000393651 NM_182692.2 450 ccA/ccG 0 0.443 GTCGTCCATTTGGCAATTCAC TRAPPC11 60684 broad.mit.edu;ucsc.edu GRCh37 4 184628079 184628079 + missense_variant Missense_Mutation SNP T T G TCGA-HT-7470-01 TCGA-HT-7470-10 Untested Somatic Phase_I WXS none Illumina GAIIx 72 8 ENST00000334690.6:c.3175T>G p.Ser1059Ala p.S1059A ENST00000334690 NM_021942.5 1059 Tca/Gca 0 0.418 CTTCATGTTCTCAGGTCTCAA LRRTM4 80059 broad.mit.edu;ucsc.edu GRCh37 2 76975874 76975874 + missense_variant Missense_Mutation SNP T T C TCGA-HT-7470-01 TCGA-HT-7470-10 Untested Somatic Phase_I WXS none Illumina GAIIx 169 49 ENST00000409093.1:c.1720A>G p.Thr574Ala p.T574A ENST00000409093 574 Acc/Gcc 0 0.617 CTGGCGATGGTGGCGATGAAG ZW10 9183 broad.mit.edu;hgsc.bcm.edu GRCh37 11 113614641 113614641 + frameshift_variant Frame_Shift_Del DEL T T - TCGA-HT-7470-01 TCGA-HT-7470-10 Untested Somatic Phase_I WXS none Illumina GAIIx 153 64 ENST00000200135.3:c.1394delA p.Asn465IlefsTer19 p.N465Ifs*19 ENST00000200135 NM_004724.3 465 aAt/at 0 0.418 GTCCAATGTATTTTCAGGCTC ATRX 546 broad.mit.edu;hgsc.bcm.edu GRCh37 X 76874329 76874330 + frameshift_variant Frame_Shift_Ins INS - - T TCGA-HT-7470-01 TCGA-HT-7470-10 Untested Somatic Phase_I WXS none Illumina GAIIx 52 82 ENST00000373344.5:c.5392dupA p.Arg1798LysfsTer12 p.R1798Kfs*12 ENST00000373344 NM_000489.3 1798 aga/aAga 0 0.322 TTTCATCACTCTGACATCTACC INTS4 92105 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 11 77639508 77639508 + synonymous_variant Silent SNP A A T TCGA-DH-5140-01 TCGA-DH-5140-10 Untested Somatic Phase_I WXS none Illumina GAIIx 24 47 ENST00000534064.1:c.1251T>A p.Val417= p.V417= ENST00000534064 NM_033547.3 417 gtT/gtA 0 0.443 TGAACATGTCAACTAGGAAAT MAML2 84441 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 11 95712904 95712904 + missense_variant Missense_Mutation SNP C C G TCGA-DH-5140-01 TCGA-DH-5140-10 Untested Somatic Phase_I WXS none Illumina GAIIx 97 114 ENST00000524717.1:c.2679G>C p.Gln893His p.Q893H ENST00000524717 NM_032427.1 893 caG/caC 0 0.408 TTGGGTTTCTCTGTTGGGTCA ATN1 1822 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 12 7046127 7046127 + missense_variant Missense_Mutation SNP C C T TCGA-DH-5140-01 TCGA-DH-5140-10 Untested Somatic Phase_I WXS none Illumina GAIIx 216 17 ENST00000356654.4:c.1697C>T p.Pro566Leu p.P566L ENST00000356654 NM_001007026.1 566 cCt/cTt 0 0.637 CCCAATGGCCCTCCAGTCTCT SPTBN5 51332 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 15 42172441 42172441 + synonymous_variant Silent SNP A A G TCGA-DH-5140-01 TCGA-DH-5140-10 Untested Somatic Phase_I WXS none Illumina GAIIx 18 8 ENST00000320955.6:c.2728T>C p.Leu910= p.L910= ENST00000320955 NM_016642.3 910 Ttg/Ctg 0 0.632 TCCAGCCACAACTGGAGCTCC ACAN 176 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 15 89398499 89398499 + missense_variant Missense_Mutation SNP C C T TCGA-DH-5140-01 TCGA-DH-5140-10 Untested Somatic Phase_I WXS none Illumina GAIIx 58 40 ENST00000439576.2:c.2683C>T p.Pro895Ser p.P895S ENST00000439576 NM_013227.3 895 Ccc/Tcc 0 0.572 AAGTGGACTGCCCTCTGGAGA SLX4 84464 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 16 3640690 3640690 + synonymous_variant Silent SNP G G A TCGA-DH-5140-01 TCGA-DH-5140-10 Untested Somatic Phase_I WXS none Illumina GAIIx 123 130 ENST00000294008.3:c.2949C>T p.Tyr983= p.Y983= ENST00000294008 NM_032444.2 983 taC/taT 0 0.572 AGAGCTGTTCGTAATCCCCGG ABCC12 94160 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 16 48174762 48174762 + synonymous_variant Silent SNP G G A TCGA-DH-5140-01 TCGA-DH-5140-10 Untested Somatic Phase_I WXS none Illumina GAIIx 105 79 ENST00000311303.3:c.493C>T p.Leu165= p.L165= ENST00000311303 NM_033226.2 165 Ctg/Ttg 0 0.537 GCTATGCACAGTCCAATGCCA TP53 7157 hgsc.bcm.edu;broad.mit.edu GRCh37 17 7574035 7574035 + splice_acceptor_variant Splice_Site SNP T T G TCGA-DH-5140-01 TCGA-DH-5140-10 Untested Somatic Phase_I WXS none Illumina GAIIx 33 15 ENST00000269305.4:c.994-2A>C p.X332_splice ENST00000269305 NM_001126112.2 0 0.507 CCCACGGATCTGCAGCAACAG TP53 7157 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 7577572 7577572 + missense_variant Missense_Mutation SNP T T C TCGA-DH-5140-01 TCGA-DH-5140-10 Untested Somatic Phase_I WXS none Illumina GAIIx 77 45 ENST00000269305.4:c.709A>G p.Met237Val p.M237V ENST00000269305 NM_001126112.2 237 Atg/Gtg 0 0.572 CTGTTACACATGTAGTTGTAG NF1 4763 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 29556166 29556166 + missense_variant Missense_Mutation SNP T T C TCGA-DH-5140-01 TCGA-DH-5140-10 Untested Somatic Phase_I WXS none Illumina GAIIx 12 101 ENST00000358273.4:c.2533T>C p.Cys845Arg p.C845R ENST00000358273 NM_001042492.2 845 Tgt/Cgt 0 0.512 TGGCTTCCTTTGTGCCCTTGG CCDC40 55036 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 78032380 78032380 + missense_variant Missense_Mutation SNP G G A TCGA-DH-5140-01 TCGA-DH-5140-10 Untested Somatic Phase_I WXS none Illumina GAIIx 12 120 ENST00000397545.4:c.1247G>A p.Arg416His p.R416H ENST00000397545 NM_017950.3 416 cGc/cAc 0 0.537 GACGACATCCGCGTGATGACA PLIN4 729359 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 19 4511095 4511095 + synonymous_variant Silent SNP G G A TCGA-DH-5140-01 TCGA-DH-5140-10 Untested Somatic Phase_I WXS none Illumina GAIIx 83 34 ENST00000301286.3:c.2835C>T p.Gly945= p.G945= ENST00000301286 NM_001080400.1 945 ggC/ggT 0 0.592 CATCCTTAGCGCCACTCAGCA NOTCH3 4854 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 19 15281250 15281250 + missense_variant Missense_Mutation SNP C C T TCGA-DH-5140-01 TCGA-DH-5140-10 Untested Somatic Phase_I WXS none Illumina GAIIx 65 45 ENST00000263388.2:c.5006G>A p.Arg1669His p.R1669H ENST00000263388 NM_000435.2 1669 cGc/cAc 0 0.677 GCTGTGCTCGCGCTTGCGCCG SLC7A9 11136 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 19 33350866 33350866 + missense_variant Missense_Mutation SNP G G T TCGA-DH-5140-01 TCGA-DH-5140-10 Untested Somatic Phase_I WXS none Illumina GAIIx 80 21 ENST00000023064.4:c.754C>A p.Leu252Met p.L252M ENST00000023064 NM_014270.4 252 Ctg/Atg 0 0.602 GCCAAAGGCAGGTTTCTGGGA LPHN2 23266 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 82456736 82456736 + synonymous_variant Silent SNP T T C TCGA-DH-5140-01 TCGA-DH-5140-10 Untested Somatic Phase_I WXS none Illumina GAIIx 69 48 ENST00000319517.6:c.4119T>C p.Asn1373= p.N1373= ENST00000319517 NM_012302.2 1373 aaT/aaC 0 0.428 gcaggggcaatagtgatggtt RFWD2 64326 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 176132075 176132075 + missense_variant Missense_Mutation SNP T T C TCGA-DH-5140-01 TCGA-DH-5140-10 Untested Somatic Phase_I WXS none Illumina GAIIx 99 85 ENST00000367669.3:c.692A>G p.Asp231Gly p.D231G ENST00000367669 NM_022457.5 231 gAt/gGt 0 0.358 ATCAAGGTTATCTTGGTCAGT RBM11 54033 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 21 15599378 15599378 + missense_variant Missense_Mutation SNP G G A TCGA-DH-5140-01 TCGA-DH-5140-10 Untested Somatic Phase_I WXS none Illumina GAIIx 373 100 ENST00000400577.3:c.610G>A p.Ala204Thr p.A204T ENST00000400577 NM_144770.3 204 Gct/Act 0 0.463 TCAGATGACAGCTCCACTTCC APOB 338 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 21228172 21228172 + synonymous_variant Silent SNP G G A TCGA-DH-5140-01 TCGA-DH-5140-10 Untested Somatic Phase_I WXS none Illumina GAIIx 131 110 ENST00000233242.1:c.11568C>T p.Ile3856= p.I3856= ENST00000233242 NM_000384.2 3856 atC/atT 0 0.473 GCTCAGGCACGATGATGGTGG ACOXL 55289 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 111562956 111562956 + missense_variant Missense_Mutation SNP C C T TCGA-DH-5140-01 TCGA-DH-5140-10 Untested Somatic Phase_I WXS none Illumina GAIIx 121 76 ENST00000439055.1:c.737C>T p.Ala246Val p.A246V ENST00000439055 NM_001142807.1 246 gCt/gTt 0 0.453 GCTTTCCAAGCTATGGGTGCC NDUFAF3 25915 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 3 49059582 49059582 + missense_variant Missense_Mutation SNP C C G TCGA-DH-5140-01 TCGA-DH-5140-10 Untested Somatic Phase_I WXS none Illumina GAIIx 22 13 ENST00000326925.6:c.5C>G p.Ala2Gly p.A2G ENST00000326925 NM_199069.1 2 gCc/gGc 0 0.716 TCAGCCATGGCCACCGCTCTC UBXN7 26043 hgsc.bcm.edu;broad.mit.edu GRCh37 3 196094958 196094958 + missense_variant Missense_Mutation SNP C C T TCGA-DH-5140-01 TCGA-DH-5140-10 Untested Somatic Phase_I WXS none Illumina GAIIx 243 20 ENST00000296328.4:c.775G>A p.Gly259Ser p.G259S ENST00000296328 NM_015562.1 259 Ggt/Agt 0 0.398 CCATGTTCACCCAGAAATCCC HIST1H4G 8369 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 6 26247163 26247163 + missense_variant Missense_Mutation SNP C C T TCGA-DH-5140-01 TCGA-DH-5140-10 Untested Somatic Phase_I WXS none Illumina GAIIx 105 20 ENST00000244537.4:c.43G>A p.Gly15Ser p.G15S ENST00000244537 NM_003547.2 15 Ggt/Agt 0 0.517 CACTTGGCACCGCCTTTCCCA HLA-DQA2 3118 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 6 32713607 32713607 + missense_variant Missense_Mutation SNP C C T rs144060347 TCGA-DH-5140-01 TCGA-DH-5140-10 Untested Somatic Phase_I WXS none Illumina GAIIx 127 130 ENST00000374940.3:c.371C>T p.Thr124Met p.T124M ENST00000374940 NM_020056.4 124 aCg/aTg 0 0.507 TTTCCTGTGACGCTGGGTCAG SLC25A40 55972 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 7 87466058 87466058 + synonymous_variant Silent SNP G G A TCGA-DH-5140-01 TCGA-DH-5140-10 Untested Somatic Phase_I WXS none Illumina GAIIx 72 28 ENST00000341119.5:c.891C>T p.Ser297= p.S297= ENST00000341119 NM_018843.3 297 tcC/tcT 0 0.259 AAAATAATCCGGAAAATCCAT CPA1 1357 hgsc.bcm.edu;broad.mit.edu GRCh37 7 130024455 130024455 + missense_variant Missense_Mutation SNP G G A TCGA-DH-5140-01 TCGA-DH-5140-10 Untested Somatic Phase_I WXS none Illumina GAIIx 151 12 ENST00000011292.3:c.775G>A p.Ala259Thr p.A259T ENST00000011292 NM_001868.2 259 Gct/Act 0 0.602 GAACTGGGACGCTGGCTTTGG ZCRB1 85437 broad.mit.edu;ucsc.edu GRCh37 12 42711595 42711595 + missense_variant Missense_Mutation SNP G G T TCGA-DH-5140-01 TCGA-DH-5140-10 Untested Somatic Phase_I WXS none Illumina GAIIx 137 90 ENST00000266529.3:c.219C>A p.Asn73Lys p.N73K ENST00000266529 NM_033114.3 73 aaC/aaA 0 0.393 TTACCTGTTTGTTGTTTATTG UGGT1 56886 broad.mit.edu;hgsc.bcm.edu GRCh37 2 128938471 128938471 + frameshift_variant Frame_Shift_Del DEL T T - TCGA-DH-5140-01 TCGA-DH-5140-10 Untested Somatic Phase_I WXS none Illumina GAIIx 73 54 ENST00000259253.6:c.3908delT p.Ile1303AsnfsTer47 p.I1303Nfs*47 ENST00000259253 NM_020120.3 1303 aTa/aa 0 0.373 TAGGAGTTTATACCTTACATG TP63 8626 broad.mit.edu;hgsc.bcm.edu GRCh37 3 189612149 189612149 + frameshift_variant Frame_Shift_Del DEL G G - TCGA-DH-5140-01 TCGA-DH-5140-10 Untested Somatic Phase_I WXS none Illumina GAIIx 155 107 ENST00000264731.3:c.1904delG p.Gly635ValfsTer69 p.G635Vfs*69 ENST00000264731 NM_003722.4 634 cGg/cg 0 0.567 AGTGAGACCCGGGGTGAGCGT TP53 7157 broad.mit.edu;hgsc.bcm.edu GRCh37 17 7574025 7574025 + frameshift_variant Frame_Shift_Del DEL C C - TCGA-DH-5140-01 TCGA-DH-5140-10 Untested Somatic Phase_I WXS none Illumina GAIIx 38 19 ENST00000269305.4:c.1002delG p.Arg335ValfsTer10 p.R335Vfs*10 ENST00000269305 NM_001126112.2 334 ggG/gg 0 0.522 AGCGCTCACGCCCACGGATCT CCKBR 887 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 11 6292257 6292257 + synonymous_variant Silent SNP C C T TCGA-HT-7882-01 TCGA-HT-7882-10 Untested Somatic Phase_I WXS none Illumina GAIIx 117 14 ENST00000334619.2:c.828C>T p.Asn276= p.N276= ENST00000334619 NM_176875.3 276 aaC/aaT 0 0.662 TTCACCAGAACGGGCGTTGCC MADD 8567 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 11 47304014 47304014 + missense_variant Missense_Mutation SNP C C T TCGA-HT-7882-01 TCGA-HT-7882-10 Untested Somatic Phase_I WXS none Illumina GAIIx 95 10 ENST00000311027.5:c.1552C>T p.Arg518Trp p.R518W ENST00000311027 NM_003682.3 518 Cgg/Tgg 0 0.562 CCTCTTTCCTCGGCCTGTGGT OR5L1 219437 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 11 55579059 55579059 + missense_variant Missense_Mutation SNP G G T TCGA-HT-7882-01 TCGA-HT-7882-10 Untested Somatic Phase_I WXS none Illumina GAIIx 225 33 ENST00000333973.2:c.117G>T p.Leu39Phe p.L39F ENST00000333973 NM_001004738.1 39 ttG/ttT 0 0.507 GAGTCACGTTGTTAGCCAACC DYNC2H1 79659 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 11 102995846 102995846 + missense_variant Missense_Mutation SNP G G A TCGA-HT-7882-01 TCGA-HT-7882-10 Untested Somatic Phase_I WXS none Illumina GAIIx 16 8 ENST00000398093.3:c.1679G>A p.Arg560Gln p.R560Q ENST00000398093 560 cGa/cAa 0 0.333 GCTAGTAGTCGAATTATGGAA BRF1 2972 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 14 105688184 105688184 + synonymous_variant Silent SNP G G A TCGA-HT-7882-01 TCGA-HT-7882-10 Untested Somatic Phase_I WXS none Illumina GAIIx 23 4 ENST00000546474.1:c.1116C>T p.Ala372= p.A372= ENST00000546474 NM_001519.3 372 gcC/gcT 0 0.637 GGCTGGCCGCGGCTTCCAGCT NPAP1 23742 hgsc.bcm.edu;broad.mit.edu GRCh37 15 24921093 24921093 + missense_variant Missense_Mutation SNP C C A TCGA-HT-7882-01 TCGA-HT-7882-10 Untested Somatic Phase_I WXS none Illumina GAIIx 20 6 ENST00000329468.2:c.79C>A p.Pro27Thr p.P27T ENST00000329468 NM_018958.2 27 Ccc/Acc 0 0.701 CGCCCCCGCTCCCCTGTCCCG ATP10A 57194 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 15 25959052 25959052 + missense_variant Missense_Mutation SNP A A G TCGA-HT-7882-01 TCGA-HT-7882-10 Untested Somatic Phase_I WXS none Illumina GAIIx 91 22 ENST00000356865.6:c.2113T>C p.Tyr705His p.Y705H ENST00000356865 NM_024490.3 705 Tat/Cat 0 0.662 CTGGCCGCATACACCAGTGCG HS3ST6 64711 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 16 1962006 1962006 + missense_variant Missense_Mutation SNP C C T TCGA-HT-7882-01 TCGA-HT-7882-10 Untested Somatic Phase_I WXS none Illumina GAIIx 42 9 ENST00000443547.1:c.521G>A p.Arg174His p.R174H ENST00000443547 NM_001009606.2 174 cGc/cAc 0 0.716 GGCCAGGGCGCGGAAGCTGGG LPO 4025 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 56343663 56343663 + missense_variant Missense_Mutation SNP C C T TCGA-HT-7882-01 TCGA-HT-7882-10 Untested Somatic Phase_I WXS none Illumina GAIIx 63 8 ENST00000262290.4:c.1669C>T p.Arg557Cys p.R557C ENST00000262290 NM_006151.2 557 Cgt/Tgt 0 0.502 CAACACACAGCGTTGCCGGGA MAP1S 55201 hgsc.bcm.edu;broad.mit.edu GRCh37 19 17845112 17845112 + missense_variant Missense_Mutation SNP G G C rs71762031 TCGA-HT-7882-01 TCGA-HT-7882-10 Untested Somatic Phase_I WXS none Illumina GAIIx 64 6 ENST00000324096.4:c.3055G>C p.Ala1019Pro p.A1019P ENST00000324096 NM_018174.4 1019 Gcc/Ccc 0 0.657 CGACTCGGTGGCCATGCATAC ZNF536 9745 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 19 31040081 31040081 + synonymous_variant Silent SNP C C T TCGA-HT-7882-01 TCGA-HT-7882-10 Untested Somatic Phase_I WXS none Illumina GAIIx 72 9 ENST00000355537.3:c.3555C>T p.Thr1185= p.T1185= ENST00000355537 NM_014717.1 1185 acC/acT 0 0.572 ATGTTGAAACCGAACCGGAAA LILRB2 10288 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 19 54783825 54783825 + missense_variant Missense_Mutation SNP C C T rs141797988 TCGA-HT-7882-01 TCGA-HT-7882-10 Untested Somatic Phase_I WXS none Illumina GAIIx 182 24 ENST00000391749.4:c.176G>A p.Arg59His p.R59H ENST00000391749 NM_001278406.1 59 cGt/cAt 0 0.547 CCTATATAGACGGTACTCCTG LILRA3 11026 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 19 54803127 54803127 + missense_variant Missense_Mutation SNP C C T TCGA-HT-7882-01 TCGA-HT-7882-10 Untested Somatic Phase_I WXS none Illumina GAIIx 182 23 ENST00000251390.3:c.550G>A p.Val184Met p.V184M ENST00000251390 NM_006865.3 184 Gtg/Atg 0 0.567 ACGGGGCCCACGGAGAAGATG TAS1R2 80834 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 19181133 19181133 + synonymous_variant Silent SNP G G A TCGA-HT-7882-01 TCGA-HT-7882-10 Untested Somatic Phase_I WXS none Illumina GAIIx 47 6 ENST00000375371.3:c.831C>T p.Pro277= p.P277= ENST00000375371 NM_152232.2 277 ccC/ccT 0 0.632 GGGTCAGGTCGGGCGAGAACA GLIS1 148979 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 53995560 53995560 + synonymous_variant Silent SNP C C T TCGA-HT-7882-01 TCGA-HT-7882-10 Untested Somatic Phase_I WXS none Illumina GAIIx 68 11 ENST00000312233.2:c.861G>A p.Thr287= p.T287= ENST00000312233 NM_147193.2 287 acG/acA 0 0.637 GCTTCTCGCCCGTGTGGCTCC SRSF11 9295 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 70715634 70715634 + splice_acceptor_variant Splice_Site SNP G G C TCGA-HT-7882-01 TCGA-HT-7882-10 Untested Somatic Phase_I WXS none Illumina GAIIx 41 5 ENST00000370950.3:c.1023-1G>C p.X341_splice ENST00000370950 0 0.418 TGTGATTCTAGAGAGAGACGA FMO3 2328 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 171079965 171079965 + synonymous_variant Silent SNP C C G TCGA-HT-7882-01 TCGA-HT-7882-10 Untested Somatic Phase_I WXS none Illumina GAIIx 107 11 ENST00000367755.4:c.654C>G p.Ser218= p.S218= ENST00000367755 NM_001002294.2 218 tcC/tcG 0 0.473 GAAGTGGCTCCTGGGTGATGA CFH 3075 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 196716352 196716352 + missense_variant Missense_Mutation SNP A A T TCGA-HT-7882-01 TCGA-HT-7882-10 Untested Somatic Phase_I WXS none Illumina GAIIx 89 17 ENST00000367429.4:c.3605A>T p.Lys1202Ile p.K1202I ENST00000367429 NM_000186.3 1202 aAa/aTa 0 0.383 TTTGTGTGTAAACGGGGATAT KDM5B 10765 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 202702739 202702739 + synonymous_variant Silent SNP C C T TCGA-HT-7882-01 TCGA-HT-7882-10 Untested Somatic Phase_I WXS none Illumina GAIIx 73 16 ENST00000367265.3:c.3699G>A p.Leu1233= p.L1233= ENST00000367265 NM_006618.3 1233 ctG/ctA 0 0.532 CGAGCAGGGGCAGAATTTTCT OBSCN 84033 hgsc.bcm.edu;ucsc.edu GRCh37 1 228487678 228487678 + missense_variant Missense_Mutation SNP G G A TCGA-HT-7882-01 TCGA-HT-7882-10 Untested Somatic Phase_I WXS none Illumina GAIIx 59 10 ENST00000570156.2:c.13570G>A p.Val4524Met p.V4524M ENST00000570156 NM_001271223.2 4524 Gtg/Atg 0 0.557 GGCGGCCCCCGTGGAGTGGAG OR13G1 441933 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 247835492 247835492 + synonymous_variant Silent SNP C C T TCGA-HT-7882-01 TCGA-HT-7882-10 Untested Somatic Phase_I WXS none Illumina GAIIx 93 17 ENST00000359688.2:c.852G>A p.Pro284= p.P284= ENST00000359688 NM_001005487.1 284 ccG/ccA 0 0.438 TGTACACCATCGGGTTTAATG XKR7 343702 hgsc.bcm.edu;broad.mit.edu GRCh37 20 30584347 30584347 + missense_variant Missense_Mutation SNP C C T TCGA-HT-7882-01 TCGA-HT-7882-10 Untested Somatic Phase_I WXS none Illumina GAIIx 36 7 ENST00000562532.2:c.827C>T p.Thr276Met p.T276M ENST00000562532 NM_001011718.1 276 aCg/aTg 0 0.701 CTGGCCTGGACGCTGGCCTCC DPP10 57628 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 116497433 116497433 + synonymous_variant Silent SNP G G A TCGA-HT-7882-01 TCGA-HT-7882-10 Untested Somatic Phase_I WXS none Illumina GAIIx 134 22 ENST00000393147.2:c.828G>A p.Ala276= p.A276= ENST00000393147 NM_001178034.1 276 gcG/gcA 0 0.458 TTACTGGAGCGTTGTATCCCA CWC22 57703 hgsc.bcm.edu;broad.mit.edu GRCh37 2 180810177 180810177 + synonymous_variant Silent SNP A A G TCGA-HT-7882-01 TCGA-HT-7882-10 Untested Somatic Phase_I WXS none Illumina GAIIx 126 9 ENST00000410053.3:c.2406T>C p.Asn802= p.N802= ENST00000410053 NM_020943.2 802 aaT/aaC 0 0.353 GGTCTCTGTCATTCGCAACTC CEP97 79598 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 3 101476897 101476897 + missense_variant Missense_Mutation SNP C C T TCGA-HT-7882-01 TCGA-HT-7882-10 Untested Somatic Phase_I WXS none Illumina GAIIx 81 17 ENST00000341893.3:c.1447C>T p.Pro483Ser p.P483S ENST00000341893 483 Cct/Tct 0 0.378 TGGACTATTACCTTGTCCTGA PIK3CA 5290 hgsc.bcm.edu;broad.mit.edu GRCh37 3 178922364 178922364 + missense_variant Missense_Mutation SNP G G A TCGA-HT-7882-01 TCGA-HT-7882-10 Untested Somatic Phase_I WXS none Illumina GAIIx 52 4 ENST00000263967.3:c.1133G>A p.Cys378Tyr p.C378Y ENST00000263967 NM_006218.2 378 tGt/tAt 0 0.328 AGAGTACCTTGTTCCAATCCC B3GNT5 84002 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 3 182988131 182988131 + missense_variant Missense_Mutation SNP A A G TCGA-HT-7882-01 TCGA-HT-7882-10 Untested Somatic Phase_I WXS none Illumina GAIIx 82 19 ENST00000326505.3:c.545A>G p.Tyr182Cys p.Y182C ENST00000326505 NM_032047.4 182 tAt/tGt 0 0.333 GCAAATACCTATTGTCCACAT PDGFRA 5156 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 4 55131161 55131161 + missense_variant Missense_Mutation SNP G G A TCGA-HT-7882-01 TCGA-HT-7882-10 Untested Somatic Phase_I WXS none Illumina GAIIx 136 551 ENST00000257290.5:c.704G>A p.Cys235Tyr p.C235Y ENST00000257290 NM_006206.4 235 tGt/tAt 0 0.443 GTGGTCACCTGTGCTGTTTTT TET2 54790 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 4 106157894 106157894 + missense_variant Missense_Mutation SNP A A G TCGA-HT-7882-01 TCGA-HT-7882-10 Untested Somatic Phase_I WXS none Illumina GAIIx 43 12 ENST00000380013.4:c.2795A>G p.Asp932Gly p.D932G ENST00000380013 NM_001127208.2 932 gAc/gGc 0 0.453 CCTGTGCCTGACCAGGGAGGA SLC6A3 6531 hgsc.bcm.edu;broad.mit.edu GRCh37 5 1406358 1406358 + missense_variant Missense_Mutation SNP C C T TCGA-HT-7882-01 TCGA-HT-7882-10 Untested Somatic Phase_I WXS none Illumina GAIIx 131 10 ENST00000270349.9:c.1544G>A p.Arg515Gln p.R515Q ENST00000270349 NM_001044.4 515 cGg/cAg 0 0.652 CAGGCTGGGCCGCTGCCCGGT SLC6A3 6531 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 5 1406386 1406386 + missense_variant Missense_Mutation SNP C C T TCGA-HT-7882-01 TCGA-HT-7882-10 Untested Somatic Phase_I WXS none Illumina GAIIx 132 14 ENST00000270349.9:c.1516G>A p.Asp506Asn p.D506N ENST00000270349 NM_001044.4 506 Gac/Aac 0 0.642 TGGATGTCGTCGCTGAACTGC SLCO4C1 353189 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 5 101582955 101582955 + splice_donor_variant Splice_Site SNP C C A TCGA-HT-7882-01 TCGA-HT-7882-10 Untested Somatic Phase_I WXS none Illumina GAIIx 50 9 ENST00000310954.6:c.1811+1G>T p.X604_splice ENST00000310954 NM_180991.4 0 0.378 GTGCTACATACCTTAGGATAG PRSS35 167681 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 6 84233953 84233953 + stop_gained Nonsense_Mutation SNP C C T TCGA-HT-7882-01 TCGA-HT-7882-10 Untested Somatic Phase_I WXS none Illumina GAIIx 64 8 ENST00000536636.1:c.793C>T p.Arg265Ter p.R265* ENST00000536636 NM_001170423.1 265 Cga/Tga 0 0.527 GGGCTGGGCACGAGGAGGCAT SAMD3 154075 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 6 130497110 130497110 + missense_variant Missense_Mutation SNP C C T TCGA-HT-7882-01 TCGA-HT-7882-10 Untested Somatic Phase_I WXS none Illumina GAIIx 45 10 ENST00000368134.2:c.698G>A p.Arg233Gln p.R233Q ENST00000368134 NM_001258275.1 233 cGa/cAa 0 0.343 TATGGGTCTTCGAACATATTT PDE7B 27115 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 6 136494954 136494954 + missense_variant Missense_Mutation SNP A A G TCGA-HT-7882-01 TCGA-HT-7882-10 Untested Somatic Phase_I WXS none Illumina GAIIx 45 12 ENST00000308191.6:c.731A>G p.Asn244Ser p.N244S ENST00000308191 NM_018945.3 244 aAt/aGt 0 0.428 GTGCTGGAGAATCATCACTGG PPP1R3A 5506 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 7 113517983 113517983 + missense_variant Missense_Mutation SNP G G A TCGA-HT-7882-01 TCGA-HT-7882-10 Untested Somatic Phase_I WXS none Illumina GAIIx 162 18 ENST00000284601.3:c.3164C>T p.Pro1055Leu p.P1055L ENST00000284601 NM_002711.3 1055 cCt/cTt 0 0.363 TTCCTCAACAGGAAGACTAGT ASZ1 136991 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 7 117067417 117067417 + missense_variant Missense_Mutation SNP G G A rs113501399 TCGA-HT-7882-01 TCGA-HT-7882-10 Untested Somatic Phase_I WXS none Illumina GAIIx 164 25 ENST00000284629.2:c.98C>T p.Thr33Met p.T33M ENST00000284629 NM_130768.2 33 aCg/aTg 0 0.657 TACCTGAGACGTCCGGTCGAG KDM7A 80853 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 7 139810958 139810958 + missense_variant Missense_Mutation SNP A A C TCGA-HT-7882-01 TCGA-HT-7882-10 Untested Somatic Phase_I WXS none Illumina GAIIx 38 7 ENST00000397560.2:c.1365T>G p.Ile455Met p.I455M ENST00000397560 NM_030647.1 455 atT/atG 0 0.294 CATTGTCTGGAATTTCAAAGG TAS2R40 259286 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 7 142919425 142919425 + missense_variant Missense_Mutation SNP G G A TCGA-HT-7882-01 TCGA-HT-7882-10 Untested Somatic Phase_I WXS none Illumina GAIIx 119 12 ENST00000408947.3:c.254G>A p.Arg85Gln p.R85Q ENST00000408947 NM_176882.1 85 cGa/cAa 0 0.433 CTGCTATTCCGAATTGTTTAT EFCAB1 79645 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 8 49643961 49643961 + stop_gained Nonsense_Mutation SNP G G A TCGA-HT-7882-01 TCGA-HT-7882-10 Untested Somatic Phase_I WXS none Illumina GAIIx 32 6 ENST00000262103.3:c.160C>T p.Arg54Ter p.R54* ENST00000262103 NM_024593.3 54 Cga/Tga 0 0.393 AGGATGTTTCGAAATGCATTA ASS1 445 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 9 133333962 133333962 + missense_variant Missense_Mutation SNP G G A TCGA-HT-7882-01 TCGA-HT-7882-10 Untested Somatic Phase_I WXS none Illumina GAIIx 24 5 ENST00000372394.1:c.349G>A p.Gly117Ser p.G117S ENST00000372394 117 Ggc/Agc 0 0.657 TGTGTCCCACGGCGCCACAGG AKAP4 8852 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 49958224 49958224 + synonymous_variant Silent SNP G G A rs140947270 TCGA-HT-7882-01 TCGA-HT-7882-10 Untested Somatic Phase_I WXS none Illumina GAIIx 20 7 ENST00000358526.2:c.1140C>T p.Ser380= p.S380= ENST00000358526 NM_003886.2 380 tcC/tcT 0 0.463 CAATCAAATCGGACACAATCT C6orf10 10665 broad.mit.edu;ucsc.edu GRCh37 6 32261388 32261388 + synonymous_variant Silent SNP C C T TCGA-HT-7882-01 TCGA-HT-7882-10 Untested Somatic Phase_I WXS none Illumina GAIIx 126 21 ENST00000447241.2:c.1062G>A p.Thr354= p.T354= ENST00000447241 NM_006781.3 354 acG/acA 0 0.468 ACCCACTCTTCGTTACTTGGG TEAD3 7005 broad.mit.edu;ucsc.edu GRCh37 6 35445110 35445110 + synonymous_variant Silent SNP C C T TCGA-HT-7882-01 TCGA-HT-7882-10 Untested Somatic Phase_I WXS none Illumina GAIIx 23 3 ENST00000338863.7:c.570G>A p.Pro190= p.P190= ENST00000338863 NM_003214.3 190 ccG/ccA 0 0.627 GCGGCAGGGGCGGCTGGATGG HCK 3055 broad.mit.edu;ucsc.edu GRCh37 20 30667667 30667667 + synonymous_variant Silent SNP C C T TCGA-HT-7882-01 TCGA-HT-7882-10 Untested Somatic Phase_I WXS none Illumina GAIIx 25 4 ENST00000375852.2:c.519C>T p.Ser173= p.S173= ENST00000375852 173 agC/agT 0 0.612 TCCGGGATAGCGAGACCACTA IGHV3-53 28420 broad.mit.edu;ucsc.edu GRCh37 14 107048694 107048694 + missense_variant Missense_Mutation SNP G G A TCGA-HT-7882-01 TCGA-HT-7882-10 Untested Somatic Phase_I WXS none Illumina GAIIx 241 33 ENST00000390627.2:c.326C>T p.Thr109Met p.T109M ENST00000390627 109 aCg/aTg 0 0.552 ATACACGGCCGTGTCCTCGGC SURF2 6835 broad.mit.edu;ucsc.edu GRCh37 9 136227174 136227174 + missense_variant Missense_Mutation SNP C C T TCGA-HT-7882-01 TCGA-HT-7882-10 Untested Somatic Phase_I WXS none Illumina GAIIx 52 4 ENST00000371964.4:c.551C>T p.Thr184Met p.T184M ENST00000371964 NM_001278928.1 184 aCg/aTg 0 0.527 CTTGGAAGCACGGAGGATGGG CDC20B 166979 broad.mit.edu;ucsc.edu GRCh37 5 54424345 54424345 + missense_variant Missense_Mutation SNP G G T TCGA-HT-7882-01 TCGA-HT-7882-10 Untested Somatic Phase_I WXS none Illumina GAIIx 69 8 ENST00000381375.2:c.798C>A p.Asn266Lys p.N266K ENST00000381375 266 aaC/aaA 0 0.448 TTAAGTCTATGTTTTCAATCC MKI67 4288 broad.mit.edu;ucsc.edu GRCh37 10 129902797 129902797 + missense_variant Missense_Mutation SNP T T C TCGA-HT-7882-01 TCGA-HT-7882-10 Untested Somatic Phase_I WXS none Illumina GAIIx 103 25 ENST00000368654.3:c.7307A>G p.Asp2436Gly p.D2436G ENST00000368654 NM_002417.4 2436 gAc/gGc 0 0.473 GCCAACCAGGTCCTCTAGAGC PCDH11X 27328 broad.mit.edu;ucsc.edu GRCh37 X 91133911 91133911 + missense_variant Missense_Mutation SNP C C A TCGA-HT-7882-01 TCGA-HT-7882-10 Untested Somatic Phase_I WXS none Illumina GAIIx 44 15 ENST00000373094.1:c.2672C>A p.Thr891Asn p.T891N ENST00000373094 NM_032968.3 891 aCt/aAt 0 0.373 ATTGAAGAAACTAAGGCAGAT TTC17 55761 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 11 43423074 43423074 + missense_variant Missense_Mutation SNP G G A TCGA-HW-A5KL-01 TCGA-HW-A5KL-10 Untested Somatic Phase_I WXS none Illumina GAIIx 24 11 ENST00000039989.4:c.1298G>A p.Arg433His p.R433H ENST00000039989 NM_018259.5 433 cGt/cAt 0 0.373 CGCTATCATCGTGGAGATATC FANCM 57697 hgsc.bcm.edu;ucsc.edu GRCh37 14 45645153 45645153 + missense_variant Missense_Mutation SNP C C G TCGA-HW-A5KL-01 TCGA-HW-A5KL-10 Untested Somatic Phase_I WXS none Illumina GAIIx 35 4 ENST00000267430.5:c.3196C>G p.Leu1066Val p.L1066V ENST00000267430 NM_020937.2 1066 Ctt/Gtt 0 0.303 AAAAAGTTGCCTTTATGATAT CRAMP1L 57585 hgsc.bcm.edu;broad.mit.edu GRCh37 16 1718033 1718033 + missense_variant Missense_Mutation SNP C C T TCGA-HW-A5KL-01 TCGA-HW-A5KL-10 Untested Somatic Phase_I WXS none Illumina GAIIx 43 22 ENST00000397412.3:c.3173C>T p.Ser1058Phe p.S1058F ENST00000397412 1058 tCc/tTc 0 0.602 ATACCGCTGTCCTCGTCAGAG XYLT1 64131 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 16 17202869 17202869 + missense_variant Missense_Mutation SNP C C T TCGA-HW-A5KL-01 TCGA-HW-A5KL-10 Untested Somatic Phase_I WXS none Illumina GAIIx 40 50 ENST00000261381.6:c.2563G>A p.Ala855Thr p.A855T ENST00000261381 NM_022166.3 855 Gca/Aca 0 0.562 AGCTTCAGTGCCTCCTCTGAA TP53 7157 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 7577586 7577586 + missense_variant Missense_Mutation SNP A A C TCGA-HW-A5KL-01 TCGA-HW-A5KL-10 Untested Somatic Phase_I WXS none Illumina GAIIx 10 41 ENST00000269305.4:c.695T>G p.Ile232Ser p.I232S ENST00000269305 NM_001126112.2 232 aTc/aGc 0 0.552 GTTGTAGTGGATGGTGGTACA PLVAP 83483 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 19 17476154 17476154 + missense_variant Missense_Mutation SNP G G C TCGA-HW-A5KL-01 TCGA-HW-A5KL-10 Untested Somatic Phase_I WXS none Illumina GAIIx 72 44 ENST00000252590.4:c.1120C>G p.Gln374Glu p.Q374E ENST00000252590 NM_031310.1 374 Cag/Gag 0 0.622 ATCCTGAGCTGCTCCGCCTCC CYP2B6 1555 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 19 41515236 41515236 + missense_variant Missense_Mutation SNP G G A TCGA-HW-A5KL-01 TCGA-HW-A5KL-10 Untested Somatic Phase_I WXS none Illumina GAIIx 147 72 ENST00000324071.4:c.758G>A p.Arg253His p.R253H ENST00000324071 NM_000767.4 253 cGt/cAt 0 0.527 GAGAAGCACCGTGAAACCCTG IDH1 3417 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T rs121913500 TCGA-HW-A5KL-01 TCGA-HW-A5KL-10 Untested Somatic Phase_I WXS none Illumina GAIIx 43 19 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 0.393 ATAAGCATGACGACCTATGAT EFHC2 80258 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 44120532 44120532 + missense_variant Missense_Mutation SNP C C T TCGA-HW-A5KL-01 TCGA-HW-A5KL-10 Untested Somatic Phase_I WXS none Illumina GAIIx 35 23 ENST00000420999.1:c.395G>A p.Arg132Gln p.R132Q ENST00000420999 NM_025184.3 132 cGg/cAg 0 0.413 CCGATGACGCCGGATAGAAGT ALAS2 212 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 55052378 55052378 + missense_variant Missense_Mutation SNP G G A TCGA-HW-A5KL-01 TCGA-HW-A5KL-10 Untested Somatic Phase_I WXS none Illumina GAIIx 64 15 ENST00000330807.5:c.56C>T p.Thr19Ile p.T19I ENST00000330807 NM_000032.4 19 aCa/aTa 0 0.542 TAGGAGGCTTGTGGGGCCCCG UBQLN2 29978 hgsc.bcm.edu;ucsc.edu GRCh37 X 56590705 56590705 + synonymous_variant Silent SNP C C T TCGA-HW-A5KL-01 TCGA-HW-A5KL-10 Untested Somatic Phase_I WXS none Illumina GAIIx 55 8 ENST00000338222.5:c.399C>T p.Ser133= p.S133= ENST00000338222 NM_013444.3 133 tcC/tcT 0 0.572 GGAGTAACTCCACACCTATTT ATRX 546 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 76939961 76939961 + missense_variant Missense_Mutation SNP A A G TCGA-HW-A5KL-01 TCGA-HW-A5KL-10 Untested Somatic Phase_I WXS none Illumina GAIIx 109 117 ENST00000373344.5:c.787T>C p.Trp263Arg p.W263R ENST00000373344 NM_000489.3 263 Tgg/Cgg 0 0.393 TAGCAATACCATTGGTTGTTT DCAF12L2 340578 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 125299672 125299672 + missense_variant Missense_Mutation SNP G G A TCGA-HW-A5KL-01 TCGA-HW-A5KL-10 Untested Somatic Phase_I WXS none Illumina GAIIx 57 28 ENST00000538699.1:c.236C>T p.Ala79Val p.A79V ENST00000538699 NM_001013628.2 79 gCc/gTc 0 0.706 CCTCTGGACGGCGTAGCCCCG PLXNB3 5365 broad.mit.edu;ucsc.edu GRCh37 X 153039467 153039467 + missense_variant Missense_Mutation SNP C C A TCGA-HW-A5KL-01 TCGA-HW-A5KL-10 Untested Somatic Phase_I WXS none Illumina GAIIx 66 28 ENST00000538966.1:c.3502C>A p.Gln1168Lys p.Q1168K ENST00000538966 NM_001163257.1 1168 Cag/Aag 0 0.672 CTTCCTGTACCAGCCCAACCC OR1D2 4991 broad.mit.edu;ucsc.edu GRCh37 17 2995927 2995927 + missense_variant Missense_Mutation SNP G G A rs73300984 byFrequency TCGA-HW-A5KL-01 TCGA-HW-A5KL-10 Untested Somatic Phase_I WXS none Illumina GAIIx 105 21 ENST00000331459.1:c.364C>T p.Arg122Cys p.R122C ENST00000331459 NM_002548.2 122 Cgc/Tgc 0 0.537 GCCACATAGCGGTCATATGCC IPO8 10526 broad.mit.edu;ucsc.edu GRCh37 12 30827606 30827606 + missense_variant Missense_Mutation SNP G G A TCGA-HW-A5KL-01 TCGA-HW-A5KL-10 Untested Somatic Phase_I WXS none Illumina GAIIx 128 76 ENST00000256079.4:c.811C>T p.Arg271Trp p.R271W ENST00000256079 NM_006390.3 271 Cgg/Tgg 0 0.418 TCAAAGAGCCGAGCTACAATA GRIP2 80852 broad.mit.edu;ucsc.edu GRCh37 3 14535207 14535207 + non_coding_transcript_exon_variant RNA SNP C C T TCGA-HW-A5KL-01 TCGA-HW-A5KL-10 Untested Somatic Phase_I WXS none Illumina GAIIx 9 10 ENST00000273083.3:n.3163G>A *1055* ENST00000273083 0 0.672 GCCTGGCGATCGGGGGGCCCG RLIM 51132 broad.mit.edu;hgsc.bcm.edu GRCh37 X 73812199 73812200 + frameshift_variant Frame_Shift_Ins INS - - G rs61752449 TCGA-HW-A5KL-01 TCGA-HW-A5KL-10 Untested Somatic Phase_I WXS none Illumina GAIIx 33 30 ENST00000332687.6:c.950dupC p.Thr318AsnfsTer5 p.T318Nfs*5 ENST00000332687 NM_016120.3 317 cca/ccCa 0 0.48 GGACTATGGTTGGAGGTCTCTG GATA3 2625 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 10 8100386 8100386 + synonymous_variant Silent SNP G G A TCGA-HT-7604-01 TCGA-HT-7604-10 Untested Somatic Phase_I WXS none Illumina GAIIx 166 101 ENST00000346208.3:c.360G>A p.Thr120= p.T120= ENST00000346208 120 acG/acA 0 0.697 TCTCCAAGACGTCCATCCACC FRMD4A 55691 hgsc.bcm.edu;broad.mit.edu GRCh37 10 13698931 13698931 + synonymous_variant Silent SNP G G A TCGA-HT-7604-01 TCGA-HT-7604-10 Untested Somatic Phase_I WXS none Illumina GAIIx 8 4 ENST00000357447.2:c.2658C>T p.Gly886= p.G886= ENST00000357447 NM_018027.3 886 ggC/ggT 0 0.716 CGTCGCCGCCGCCGCCGCGCC OR4X2 119764 hgsc.bcm.edu;broad.mit.edu GRCh37 11 48267032 48267032 + missense_variant Missense_Mutation SNP C C G TCGA-HT-7604-01 TCGA-HT-7604-10 Untested Somatic Phase_I WXS none Illumina GAIIx 99 6 ENST00000302329.3:c.377C>G p.Thr126Ser p.T126S ENST00000302329 NM_001004727.1 126 aCc/aGc 0 0.498 AGCTACACCACCATCATGAAC CPSF7 79869 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 11 61178544 61178544 + synonymous_variant Silent SNP G G A TCGA-HT-7604-01 TCGA-HT-7604-10 Untested Somatic Phase_I WXS none Illumina GAIIx 86 58 ENST00000340437.4:c.1416C>T p.Ser472= p.S472= ENST00000340437 NM_024811.3 472 agC/agT 0 0.502 CCCGGGACCGGCTAGGTGACC TYR 7299 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 11 88961080 88961080 + missense_variant Missense_Mutation SNP C C G rs61754389 TCGA-HT-7604-01 TCGA-HT-7604-10 Untested Somatic Phase_I WXS none Illumina GAIIx 131 23 ENST00000263321.5:c.1126C>G p.Gln376Glu p.Q376E ENST00000263321 NM_000372.4 376 Cag/Gag 0 0.413 AACAATGTCCCAGGTACAGGG C11orf65 160140 hgsc.bcm.edu;broad.mit.edu GRCh37 11 108256655 108256655 + missense_variant Missense_Mutation SNP T T C TCGA-HT-7604-01 TCGA-HT-7604-10 Untested Somatic Phase_I WXS none Illumina GAIIx 236 14 ENST00000393084.1:c.779A>G p.Asn260Ser p.N260S ENST00000393084 NM_152587.3 260 aAc/aGc 0 0.333 ACCTTTGAAGTTAGCCGAAGA NNMT 4837 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 11 114182852 114182852 + missense_variant Missense_Mutation SNP G G A TCGA-HT-7604-01 TCGA-HT-7604-10 Untested Somatic Phase_I WXS none Illumina GAIIx 90 96 ENST00000535401.1:c.448G>A p.Gly150Arg p.G150R ENST00000535401 150 Ggg/Agg 0 0.602 CCAGCCACTGGGGGCCGTCCC ITPR2 3709 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 12 26985668 26985668 + missense_variant Missense_Mutation SNP G G A TCGA-HT-7604-01 TCGA-HT-7604-10 Untested Somatic Phase_I WXS none Illumina GAIIx 165 33 ENST00000381340.3:c.47C>T p.Ser16Phe p.S16F ENST00000381340 NM_002223.2 16 tCc/tTc 0 0.622 CGCGTACAGGGACACGATGTC IGDCC4 57722 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 15 65684524 65684524 + synonymous_variant Silent SNP C C T TCGA-HT-7604-01 TCGA-HT-7604-10 Untested Somatic Phase_I WXS none Illumina GAIIx 95 59 ENST00000352385.2:c.2070G>A p.Val690= p.V690= ENST00000352385 NM_020962.1 690 gtG/gtA 0 0.622 GGACAGGCCCCACATCCCAAG MGRN1 23295 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 16 4732911 4732911 + synonymous_variant Silent SNP C C T TCGA-HT-7604-01 TCGA-HT-7604-10 Untested Somatic Phase_I WXS none Illumina GAIIx 20 14 ENST00000262370.7:c.1446C>T p.Gly482= p.G482= ENST00000262370 NM_015246.3 482 ggC/ggT 0 0.701 CACTGGGTGGCGCAGAGCTGG IRF8 3394 hgsc.bcm.edu;broad.mit.edu GRCh37 16 85952180 85952180 + synonymous_variant Silent SNP G G A TCGA-HT-7604-01 TCGA-HT-7604-10 Untested Somatic Phase_I WXS none Illumina GAIIx 6 16 ENST00000268638.5:c.759G>A p.Pro253= p.P253= ENST00000268638 NM_002163.2 253 ccG/ccA 0 0.741 TGCGCTTCCCGCCGGCCGACG TP53 7157 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 7577570 7577570 + missense_variant Missense_Mutation SNP C C T TCGA-HT-7604-01 TCGA-HT-7604-10 Untested Somatic Phase_I WXS none Illumina GAIIx 72 51 ENST00000269305.4:c.711G>A p.Met237Ile p.M237I ENST00000269305 NM_001126112.2 237 atG/atA 0 0.567 AACTGTTACACATGTAGTTGT TP53 7157 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 7578263 7578263 + stop_gained Nonsense_Mutation SNP G G A TCGA-HT-7604-01 TCGA-HT-7604-10 Untested Somatic Phase_I WXS none Illumina GAIIx 50 24 ENST00000269305.4:c.586C>T p.Arg196Ter p.R196* ENST00000269305 NM_001126112.2 196 Cga/Tga 0 0.552 CCTTCCACTCGGATAAGATGC CLUL1 27098 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 18 618009 618009 + synonymous_variant Silent SNP G G A TCGA-HT-7604-01 TCGA-HT-7604-10 Untested Somatic Phase_I WXS none Illumina GAIIx 40 8 ENST00000400606.2:c.9G>A p.Pro3= p.P3= ENST00000400606 NM_014410.4 3 ccG/ccA 0 0.448 ACATGAAGCCGCCACTCTTGG LIPG 9388 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 18 47107968 47107968 + missense_variant Missense_Mutation SNP T T C TCGA-HT-7604-01 TCGA-HT-7604-10 Untested Somatic Phase_I WXS none Illumina GAIIx 91 69 ENST00000261292.4:c.977T>C p.Met326Thr p.M326T ENST00000261292 NM_006033.2 326 aTg/aCg 0 0.493 GCCAAGAAAATGAGGAACAAG NFATC1 4772 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 18 77227575 77227575 + synonymous_variant Silent SNP C C T TCGA-HT-7604-01 TCGA-HT-7604-10 Untested Somatic Phase_I WXS none Illumina GAIIx 61 28 ENST00000329101.4:c.2046C>T p.Pro682= p.P682= ENST00000329101 NM_172387.2 682 ccC/ccT 0 0.532 CCTACCTTCCCGCCAACGGTA MUC16 94025 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 19 9062722 9062722 + missense_variant Missense_Mutation SNP T T C TCGA-HT-7604-01 TCGA-HT-7604-10 Untested Somatic Phase_I WXS none Illumina GAIIx 32 33 ENST00000397910.4:c.24724A>G p.Thr8242Ala p.T8242A ENST00000397910 NM_024690.2 8242 Acc/Gcc 0 0.498 ACAAGAGTGGTCATCTCTGAG HKR1 284459 hgsc.bcm.edu;broad.mit.edu GRCh37 19 37838730 37838730 + missense_variant Missense_Mutation SNP C C T TCGA-HT-7604-01 TCGA-HT-7604-10 Untested Somatic Phase_I WXS none Illumina GAIIx 63 4 ENST00000324411.4:c.269C>T p.Ala90Val p.A90V ENST00000324411 NM_181786.2 90 gCg/gTg 0 0.493 CGAGGGGAAGCGCCCTGGAGA RYR1 6261 hgsc.bcm.edu;broad.mit.edu GRCh37 19 38995497 38995497 + missense_variant Missense_Mutation SNP A A G TCGA-HT-7604-01 TCGA-HT-7604-10 Untested Somatic Phase_I WXS none Illumina GAIIx 59 4 ENST00000359596.3:c.8177A>G p.Lys2726Arg p.K2726R ENST00000359596 2726 aAg/aGg 0 0.597 GCAGAGAAAAAGGCCACAGTG ZC3H4 23211 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 19 47593321 47593321 + synonymous_variant Silent SNP G G A TCGA-HT-7604-01 TCGA-HT-7604-10 Untested Somatic Phase_I WXS none Illumina GAIIx 84 45 ENST00000253048.5:c.618C>T p.Gly206= p.G206= ENST00000253048 NM_015168.1 206 ggC/ggT 0 0.577 CCTCCTCGTCGCCCTCATATT FASLG 356 hgsc.bcm.edu;broad.mit.edu GRCh37 1 172634805 172634805 + synonymous_variant Silent SNP C C A rs80358236 TCGA-HT-7604-01 TCGA-HT-7604-10 Untested Somatic Phase_I WXS none Illumina GAIIx 81 5 ENST00000367721.2:c.495C>A p.Thr165= p.T165= ENST00000367721 NM_000639.1 165 acC/acA 0 0.428 GGGAAGACACCTATGGAATTG C20orf194 25943 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 20 3356865 3356865 + missense_variant Missense_Mutation SNP T T C TCGA-HT-7604-01 TCGA-HT-7604-10 Untested Somatic Phase_I WXS none Illumina GAIIx 31 50 ENST00000252032.9:c.368A>G p.His123Arg p.H123R ENST00000252032 NM_001009984.2 123 cAt/cGt 0 0.368 ATTTCTCCAATGTGCCACATA PCK1 5105 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 20 56139236 56139236 + missense_variant Missense_Mutation SNP G G A TCGA-HT-7604-01 TCGA-HT-7604-10 Untested Somatic Phase_I WXS none Illumina GAIIx 47 12 ENST00000319441.4:c.973G>A p.Ala325Thr p.A325T ENST00000319441 NM_002591.3 325 Gcc/Acc 0 0.448 TCATTTAAGGGCCATCAACCC APOB 338 hgsc.bcm.edu;broad.mit.edu GRCh37 2 21230555 21230555 + stop_gained Nonsense_Mutation SNP A A C TCGA-HT-7604-01 TCGA-HT-7604-10 Untested Somatic Phase_I WXS none Illumina GAIIx 72 6 ENST00000233242.1:c.9185T>G p.Leu3062Ter p.L3062* ENST00000233242 NM_000384.2 3062 tTa/tGa 0 0.408 TGTTAACCTTAATGGAAAACG TEKT4 150483 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 95542422 95542422 + missense_variant Missense_Mutation SNP G G A TCGA-HT-7604-01 TCGA-HT-7604-10 Untested Somatic Phase_I WXS none Illumina GAIIx 45 23 ENST00000295201.4:c.1216G>A p.Ala406Thr p.A406T ENST00000295201 NM_144705.2 406 Gcc/Acc 0 0.592 GGACATTGCCGCCATGACCAA ZEB2 9839 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 145147369 145147369 + synonymous_variant Silent SNP T T C TCGA-HT-7604-01 TCGA-HT-7604-10 Untested Somatic Phase_I WXS none Illumina GAIIx 66 27 ENST00000558170.2:c.3294A>G p.Lys1098= p.K1098= ENST00000558170 NM_014795.3 1098 aaA/aaG 0 0.617 CCAAGTGCCCTTTCTCGCGCG LRP2 4036 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 170030513 170030513 + missense_variant Missense_Mutation SNP T T C TCGA-HT-7604-01 TCGA-HT-7604-10 Untested Somatic Phase_I WXS none Illumina GAIIx 54 37 ENST00000263816.3:c.10930A>G p.Asn3644Asp p.N3644D ENST00000263816 NM_004525.2 3644 Aat/Gat 0 0.542 CAGCGGCCATTAGCACACCGA IDH1 3417 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 209113113 209113113 + missense_variant Missense_Mutation SNP G G T rs121913499 TCGA-HT-7604-01 TCGA-HT-7604-10 Untested Somatic Phase_I WXS none Illumina GAIIx 56 67 ENST00000345146.2:c.394C>A p.Arg132Ser p.R132S ENST00000345146 NM_005896.2 132 Cgt/Agt 0 0.398 TAAGCATGACGACCTATGATG ZFAND2B 130617 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 220072487 220072487 + missense_variant Missense_Mutation SNP C C G TCGA-HT-7604-01 TCGA-HT-7604-10 Untested Somatic Phase_I WXS none Illumina GAIIx 97 12 ENST00000289528.5:c.268C>G p.Gln90Glu p.Q90E ENST00000289528 NM_001270999.1 90 Cag/Gag 0 0.557 TGATCCAGCACAGCAAAAACG OR5H1 26341 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 3 97852349 97852349 + missense_variant Missense_Mutation SNP C C G TCGA-HT-7604-01 TCGA-HT-7604-10 Untested Somatic Phase_I WXS none Illumina GAIIx 43 41 ENST00000354565.2:c.808C>G p.Gln270Glu p.Q270E ENST00000354565 NM_001005338.1 270 Caa/Gaa 0 0.428 AGCAGATGATCAAGATATGGT ACAD9 28976 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 3 128628194 128628194 + missense_variant Missense_Mutation SNP C C G TCGA-HT-7604-01 TCGA-HT-7604-10 Untested Somatic Phase_I WXS none Illumina GAIIx 113 57 ENST00000308982.7:c.1493C>G p.Ala498Gly p.A498G ENST00000308982 NM_014049.4 498 gCc/gGc 0 0.587 TAGGACAGTGCCAACAAGTTT AADACL2 344752 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 3 151461908 151461908 + missense_variant Missense_Mutation SNP G G C TCGA-HT-7604-01 TCGA-HT-7604-10 Untested Somatic Phase_I WXS none Illumina GAIIx 79 55 ENST00000356517.3:c.389G>C p.Arg130Thr p.R130T ENST00000356517 NM_207365.3 130 aGa/aCa 0 0.358 TTCCTGAATAGATGGACGGCA GPBP1 65056 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 5 56546841 56546841 + stop_gained Nonsense_Mutation SNP C C T TCGA-HT-7604-01 TCGA-HT-7604-10 Untested Somatic Phase_I WXS none Illumina GAIIx 32 18 ENST00000264779.6:c.1054C>T p.Arg352Ter p.R352* ENST00000264779 NM_001127236.2 352 Cga/Tga 0 0.353 GGATATAAACCGAAACTTCGA KIF6 221458 hgsc.bcm.edu;broad.mit.edu GRCh37 6 39513460 39513460 + missense_variant Missense_Mutation SNP C C G TCGA-HT-7604-01 TCGA-HT-7604-10 Untested Somatic Phase_I WXS none Illumina GAIIx 65 4 ENST00000287152.7:c.1186G>C p.Glu396Gln p.E396Q ENST00000287152 NM_145027.4 396 Gaa/Caa 0 0.338 ATTAGTTTTTCCAGCCTAAAA C6orf118 168090 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 6 165715396 165715396 + missense_variant Missense_Mutation SNP A A G TCGA-HT-7604-01 TCGA-HT-7604-10 Untested Somatic Phase_I WXS none Illumina GAIIx 135 21 ENST00000230301.8:c.415T>C p.Ser139Pro p.S139P ENST00000230301 NM_144980.3 139 Tcc/Ccc 0 0.627 GAAGTGTGGGAAAGAGAGGCC SDK1 221935 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 7 4185446 4185446 + missense_variant Missense_Mutation SNP G G A TCGA-HT-7604-01 TCGA-HT-7604-10 Untested Somatic Phase_I WXS none Illumina GAIIx 56 97 ENST00000404826.2:c.4321G>A p.Asp1441Asn p.D1441N ENST00000404826 NM_152744.3 1441 Gac/Aac 0 0.667 CACAGCCACCGACCTGGCCCC PKD1L1 168507 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 7 47897211 47897211 + missense_variant Missense_Mutation SNP G G A TCGA-HT-7604-01 TCGA-HT-7604-10 Untested Somatic Phase_I WXS none Illumina GAIIx 19 14 ENST00000289672.2:c.4582C>T p.Pro1528Ser p.P1528S ENST00000289672 NM_138295.3 1528 Cct/Tct 0 0.493 ACCTGCCCAGGAGCTTGGCTC PCLO 27445 hgsc.bcm.edu;broad.mit.edu GRCh37 7 82580131 82580131 + missense_variant Missense_Mutation SNP T T C TCGA-HT-7604-01 TCGA-HT-7604-10 Untested Somatic Phase_I WXS none Illumina GAIIx 153 11 ENST00000333891.9:c.9773A>G p.Glu3258Gly p.E3258G ENST00000333891 NM_033026.5 3258 gAg/gGg 0 0.453 CTGCAGCTCCTCCAACTTTTT ABCB1 5243 hgsc.bcm.edu;broad.mit.edu GRCh37 7 87214993 87214993 + missense_variant Missense_Mutation SNP G G A TCGA-HT-7604-01 TCGA-HT-7604-10 Untested Somatic Phase_I WXS none Illumina GAIIx 41 19 ENST00000265724.3:c.121C>T p.Arg41Cys p.R41C ENST00000265724 NM_000927.4 41 Cgc/Tgc 0 0.378 TTTGAATAGCGAAACTAAAAA DOCK4 9732 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 7 111617325 111617325 + missense_variant Missense_Mutation SNP T T A TCGA-HT-7604-01 TCGA-HT-7604-10 Untested Somatic Phase_I WXS none Illumina GAIIx 8 11 ENST00000437633.1:c.563A>T p.His188Leu p.H188L ENST00000437633 NM_014705.3 188 cAt/cTt 0 0.502 TTTCTTCCGATGTCGATGTTC SLC20A2 6575 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 8 42297083 42297083 + synonymous_variant Silent SNP C C T TCGA-HT-7604-01 TCGA-HT-7604-10 Untested Somatic Phase_I WXS none Illumina GAIIx 170 122 ENST00000342228.3:c.819G>A p.Glu273= p.E273= ENST00000342228 NM_006749.4 273 gaG/gaA 0 0.517 CACCTGGTAGCTCTTTAAATA XIAP 331 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 123034427 123034427 + missense_variant Missense_Mutation SNP A A G TCGA-HT-7604-01 TCGA-HT-7604-10 Untested Somatic Phase_I WXS none Illumina GAIIx 5 32 ENST00000355640.3:c.1184A>G p.Glu395Gly p.E395G ENST00000355640 395 gAa/gGa 0 0.368 ATAATGGAGGAAAAAATTCAG VPS13D 55187 broad.mit.edu;ucsc.edu GRCh37 1 12439544 12439544 + missense_variant,splice_region_variant Missense_Mutation SNP A A G TCGA-HT-7604-01 TCGA-HT-7604-10 Untested Somatic Phase_I WXS none Illumina GAIIx 60 40 ENST00000358136.3:c.11084A>G p.Tyr3695Cys p.Y3695C ENST00000358136 NM_015378.2 3695 tAc/tGc 0 0.498 TTTTCCAGATACGAGCCACTG PBX2 5089 broad.mit.edu;ucsc.edu GRCh37 6 32157564 32157564 + synonymous_variant Silent SNP C C A rs151067717 TCGA-HT-7604-01 TCGA-HT-7604-10 Untested Somatic Phase_I WXS none Illumina GAIIx 66 32 ENST00000375050.4:c.129G>T p.Gly43= p.G43= ENST00000375050 NM_002586.4 43 ggG/ggT 0 0.711 CTCCCGGGACCCCCCCGCTAC C12orf55 144535 broad.mit.edu;ucsc.edu GRCh37 12 97151344 97151344 + missense_variant Missense_Mutation SNP C C T TCGA-HT-7604-01 TCGA-HT-7604-10 Untested Somatic Phase_I WXS none Illumina GAIIx 16 5 ENST00000524981.4:c.8018C>T p.Ser2673Leu p.S2673L ENST00000524981 2673 tCa/tTa 0 0.303 ATAAAAATTTCAGGATCACCA FAM212B 55924 broad.mit.edu;ucsc.edu GRCh37 1 112270041 112270041 + missense_variant Missense_Mutation SNP C C T rs142952172 TCGA-HT-7604-01 TCGA-HT-7604-10 Untested Somatic Phase_I WXS none Illumina GAIIx 44 35 ENST00000357260.5:c.443G>A p.Arg148Gln p.R148Q ENST00000357260 NM_019099.4 148 cGg/cAg 0 0.587 ATTCCGGCCCCGGGACATCAA UHRF1BP1 54887 broad.mit.edu;ucsc.edu GRCh37 6 34827130 34827130 + synonymous_variant Silent SNP G G A rs73419681 by1000genomes TCGA-HT-7604-01 TCGA-HT-7604-10 Untested Somatic Phase_I WXS none Illumina GAIIx 54 31 ENST00000192788.5:c.2997G>A p.Glu999= p.E999= ENST00000192788 NM_017754.3 999 gaG/gaA 0 0.552 CTGGCAGGGAGACTGCTGTGA H2AFX 3014 broad.mit.edu;hgsc.bcm.edu GRCh37 11 118965808 118965809 + frameshift_variant Frame_Shift_Ins INS - - C TCGA-HT-7604-01 TCGA-HT-7604-10 Untested Somatic Phase_I WXS none Illumina GAIIx 191 73 ENST00000530167.1:c.296dupG p.Gly100ArgfsTer131 p.G100Rfs*131 ENST00000530167 NM_002105.2 99 ggc/ggGc 0 0.693 TCGTCACGCCGCCCAGCAGCTT ATRX 546 broad.mit.edu;hgsc.bcm.edu GRCh37 X 76937745 76937745 + frameshift_variant Frame_Shift_Del DEL T T - TCGA-HT-7604-01 TCGA-HT-7604-10 Untested Somatic Phase_I WXS none Illumina GAIIx 8 52 ENST00000373344.5:c.3003delA p.Val1002Ter p.V1002* ENST00000373344 NM_000489.3 1001 aaA/aa 0 0.338 TTTTAATTACTTTTTTCTTAA PIK3R1 5295 hgsc.bcm.edu GRCh37 5 67593256 67593256 + missense_variant Missense_Mutation SNP A A C TCGA-HT-7604-01 TCGA-HT-7604-10 Untested Somatic Phase_I WXS none Illumina GAIIx 93 18 ENST00000274335.5:c.2002A>C p.Lys668Gln p.K668Q ENST00000274335 668 Aag/Cag 0 0.423 CGGCGAAGTAAAGCATTGTGT IDI1 3422 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 10 1089327 1089327 + missense_variant Missense_Mutation SNP A A G TCGA-HW-7487-01 TCGA-HW-7487-10 Untested Somatic Phase_I WXS none Illumina GAIIx 27 22 ENST00000381344.3:c.320T>C p.Leu107Ser p.L107S ENST00000381344 NM_004508.2 107 tTg/tCg 0 0.348 AGCTCGATGCAATAATCCTGA OR4K15 81127 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 14 20444378 20444378 + missense_variant Missense_Mutation SNP C C T TCGA-HW-7487-01 TCGA-HW-7487-10 Untested Somatic Phase_I WXS none Illumina GAIIx 100 42 ENST00000305051.5:c.701C>T p.Ser234Phe p.S234F ENST00000305051 NM_001005486.1 234 tCc/tTc 0 0.453 TCTCTGAGTTCCTTTCTCCTC CHD8 57680 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 14 21868155 21868155 + missense_variant Missense_Mutation SNP C C T TCGA-HW-7487-01 TCGA-HW-7487-10 Untested Somatic Phase_I WXS none Illumina GAIIx 209 80 ENST00000399982.2:c.4802G>A p.Gly1601Glu p.G1601E ENST00000399982 NM_001170629.1 1601 gGg/gAg 0 0.423 AATCGCACCCCCTAACACCTT AHNAK2 113146 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 14 105420366 105420366 + synonymous_variant Silent SNP G G A TCGA-HW-7487-01 TCGA-HW-7487-10 Untested Somatic Phase_I WXS none Illumina GAIIx 52 8 ENST00000333244.5:c.1422C>T p.Gly474= p.G474= ENST00000333244 NM_138420.2 474 ggC/ggT 0 0.522 CAATCTGTGTGCCTCCTTCGG SPTBN5 51332 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 15 42164528 42164528 + missense_variant Missense_Mutation SNP G G A TCGA-HW-7487-01 TCGA-HW-7487-10 Untested Somatic Phase_I WXS none Illumina GAIIx 20 8 ENST00000320955.6:c.5137C>T p.Arg1713Trp p.R1713W ENST00000320955 NM_016642.3 1713 Cgg/Tgg 0 0.637 TGCAGTGCCCGCAGCTGCTCC LAMA3 3909 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 18 21330907 21330907 + missense_variant Missense_Mutation SNP G G A TCGA-HW-7487-01 TCGA-HW-7487-10 Untested Somatic Phase_I WXS none Illumina GAIIx 100 55 ENST00000313654.9:c.710G>A p.Arg237His p.R237H ENST00000313654 NM_198129.1 237 cGt/cAt 0 0.393 ATAAACGGTCGTCCAGGTGCA MISP 126353 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 19 757295 757295 + missense_variant Missense_Mutation SNP G G C TCGA-HW-7487-01 TCGA-HW-7487-10 Untested Somatic Phase_I WXS none Illumina GAIIx 21 12 ENST00000215582.6:c.349G>C p.Glu117Gln p.E117Q ENST00000215582 NM_173481.2 117 Gag/Cag 0 0.667 AGAGGACGGGGAGGACAAGGA CIC 23152 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 19 42791758 42791758 + missense_variant Missense_Mutation SNP G G A TCGA-HW-7487-01 TCGA-HW-7487-10 Untested Somatic Phase_I WXS none Illumina GAIIx 16 21 ENST00000575354.2:c.644G>A p.Arg215Gln p.R215Q ENST00000575354 NM_015125.3 215 cGg/cAg 0 0.612 AAGCGGCACCGGGCCCTGGTC NLRP9 338321 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 19 56249567 56249567 + synonymous_variant Silent SNP C C A TCGA-HW-7487-01 TCGA-HW-7487-10 Untested Somatic Phase_I WXS none Illumina GAIIx 180 196 ENST00000332836.2:c.174G>T p.Leu58= p.L58= ENST00000332836 NM_176820.2 58 ctG/ctT 0 0.458 GTTTGTCCAGCAGCTTTGCTA UMODL1 89766 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 21 43519136 43519136 + synonymous_variant Silent SNP C C T TCGA-HW-7487-01 TCGA-HW-7487-10 Untested Somatic Phase_I WXS none Illumina GAIIx 62 33 ENST00000408989.2:c.1032C>T p.Val344= p.V344= ENST00000408989 NM_173568.3 344 gtC/gtT 0 0.542 CTTTCCATGTCCGGGTTTACC TTN 7273 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 179433152 179433152 + missense_variant Missense_Mutation SNP C C T TCGA-HW-7487-01 TCGA-HW-7487-10 Untested Somatic Phase_I WXS none Illumina GAIIx 43 8 ENST00000589042.1:c.77707G>A p.Val25903Ile p.V25903I ENST00000589042 NM_001267550.1 25903 Gtc/Atc 0 0.403 TCAGCACTGACGTCATCAAAT IDH1 3417 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T rs121913500 TCGA-HW-7487-01 TCGA-HW-7487-10 Untested Somatic Phase_I WXS none Illumina GAIIx 77 19 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 0.393 ATAAGCATGACGACCTATGAT ITPR1 3708 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 3 4725122 4725122 + missense_variant Missense_Mutation SNP C C T TCGA-HW-7487-01 TCGA-HW-7487-10 Untested Somatic Phase_I WXS none Illumina GAIIx 149 63 ENST00000302640.8:c.3169C>T p.Arg1057Cys p.R1057C ENST00000302640 NM_001168272.1 1057 Cgt/Tgt 0 0.582 AACCTTTCTCCGTGTCCTGCT MYLK 4638 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 3 123419711 123419711 + synonymous_variant Silent SNP G G A TCGA-HW-7487-01 TCGA-HW-7487-10 Untested Somatic Phase_I WXS none Illumina GAIIx 81 34 ENST00000360304.3:c.2604C>T p.Asp868= p.D868= ENST00000360304 NM_053025.3 868 gaC/gaT 0 0.652 CCCCTCGCACGTCCTCGCCGT MARCH1 55016 hgsc.bcm.edu;broad.mit.edu GRCh37 4 164450155 164450155 + synonymous_variant Silent SNP G G C TCGA-HW-7487-01 TCGA-HW-7487-10 Untested Somatic Phase_I WXS none Illumina GAIIx 51 3 ENST00000503008.1:c.615C>G p.Ala205= p.A205= ENST00000503008 NM_001166373.1 205 gcC/gcG 0 0.438 TGAAGCCAATGGCTACCACAA TIFAB 497189 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 5 134785348 134785348 + synonymous_variant Silent SNP C C T TCGA-HW-7487-01 TCGA-HW-7487-10 Untested Somatic Phase_I WXS none Illumina GAIIx 131 51 ENST00000537858.1:c.282G>A p.Leu94= p.L94= ENST00000537858 NM_001099221.1 94 ctG/ctA 0 0.607 GGACCTGCTCCAGGTACCTCA TRPC7 57113 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 5 135693009 135693009 + missense_variant Missense_Mutation SNP G G A TCGA-HW-7487-01 TCGA-HW-7487-10 Untested Somatic Phase_I WXS none Illumina GAIIx 53 37 ENST00000513104.1:c.67C>T p.Arg23Cys p.R23C ENST00000513104 NM_020389.2 23 Cgc/Tgc 0 0.587 ATGGCCTGGCGACGGCCCTTC SSPO 23145 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 7 149486800 149486800 + non_coding_transcript_exon_variant RNA SNP C C T TCGA-HW-7487-01 TCGA-HW-7487-10 Untested Somatic Phase_I WXS none Illumina GAIIx 30 15 ENST00000378016.2:n.4574C>T *1525* ENST00000378016 0 0.682 GATGAGGGGCCGGGACACTGC CDKN2C 1031 broad.mit.edu;ucsc.edu GRCh37 1 51439758 51439758 + missense_variant Missense_Mutation SNP A A G TCGA-HW-7487-01 TCGA-HW-7487-10 Untested Somatic Phase_I WXS none Illumina GAIIx 9 8 ENST00000262662.1:c.323A>G p.His108Arg p.H108R ENST00000262662 108 cAc/cGc 0 0.552 CTGCCCTTGCACTTGGCTGCC DAO 1610 broad.mit.edu;ucsc.edu GRCh37 12 109294236 109294236 + synonymous_variant Silent SNP C C T TCGA-HW-7487-01 TCGA-HW-7487-10 Untested Somatic Phase_I WXS none Illumina GAIIx 91 18 ENST00000228476.3:c.969C>T p.Ala323= p.A323= ENST00000228476 NM_001917.4 323 gcC/gcT 0 0.572 GGGGATGTGCCCTGGAGGCAG FUBP1 8880 broad.mit.edu;hgsc.bcm.edu GRCh37 1 78426058 78426059 + stop_gained,frameshift_variant Nonsense_Mutation INS - - T TCGA-HW-7487-01 TCGA-HW-7487-10 Untested Somatic Phase_I WXS none Illumina GAIIx 6 13 ENST00000370768.2:c.1466dupA p.Tyr489Ter p.Y489* ENST00000370768 NM_003902.3 489 tat/taAt 0 0.545 GTCCAGGATTATAAGGTGCAGG ATAD1 84896 hgsc.bcm.edu;broad.mit.edu GRCh37 10 89536119 89536119 + missense_variant Missense_Mutation SNP T T G TCGA-FG-6690-01 TCGA-FG-6690-10 Untested Somatic Phase_I WXS none Illumina GAIIx 220 13 ENST00000308448.7:c.649A>C p.Met217Leu p.M217L ENST00000308448 NM_032810.2 217 Atg/Ctg 0 0.378 CAGAGACTCATAAACTGAGCT NPAT 4863 hgsc.bcm.edu;broad.mit.edu GRCh37 11 108043929 108043929 + synonymous_variant Silent SNP A A G TCGA-FG-6690-01 TCGA-FG-6690-10 Untested Somatic Phase_I WXS none Illumina GAIIx 131 9 ENST00000278612.8:c.1782T>C p.Asn594= p.N594= ENST00000278612 NM_002519.2 594 aaT/aaC 0 0.313 TATCTTGGCAATTTGATAGCT NCAM1 4684 hgsc.bcm.edu;broad.mit.edu GRCh37 11 113076288 113076288 + synonymous_variant Silent SNP G G A TCGA-FG-6690-01 TCGA-FG-6690-10 Untested Somatic Phase_I WXS none Illumina GAIIx 100 7 ENST00000524665.1:c.567G>A p.Arg189= p.R189= ENST00000524665 NM_000615.6 189 cgG/cgA 0 0.507 AGGAGTTCCGGGAGGGGGAAG KRT76 51350 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 12 53169301 53169301 + missense_variant Missense_Mutation SNP C C T TCGA-FG-6690-01 TCGA-FG-6690-10 Untested Somatic Phase_I WXS none Illumina GAIIx 115 80 ENST00000332411.2:c.686G>A p.Ser229Asn p.S229N ENST00000332411 NM_015848.4 229 aGc/aAc 0 0.557 AGGCTCCAGGCTGCTGGGCCC REM2 161253 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 14 23354069 23354069 + missense_variant Missense_Mutation SNP C C T TCGA-FG-6690-01 TCGA-FG-6690-10 Untested Somatic Phase_I WXS none Illumina GAIIx 94 14 ENST00000267396.4:c.290C>T p.Ser97Leu p.S97L ENST00000267396 NM_173527.2 97 tCg/tTg 0 0.612 TCCTCTGGCTCGTCTGACTCC CDC42BPB 9578 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 14 103430859 103430859 + synonymous_variant Silent SNP G G A TCGA-FG-6690-01 TCGA-FG-6690-10 Untested Somatic Phase_I WXS none Illumina GAIIx 63 16 ENST00000361246.2:c.2706C>T p.Asp902= p.D902= ENST00000361246 NM_006035.3 902 gaC/gaT 0 0.652 TGAGGTTGGCGTCCTTGACCT NDN 4692 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 15 23932264 23932264 + missense_variant Missense_Mutation SNP G G A TCGA-FG-6690-01 TCGA-FG-6690-10 Untested Somatic Phase_I WXS none Illumina GAIIx 27 7 ENST00000331837.4:c.101C>T p.Pro34Leu p.P34L ENST00000331837 NM_002487.2 34 cCg/cTg 0 0.692 GGTCGCGGACGGAGGAACCCC ITGA11 22801 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 15 68643096 68643096 + missense_variant Missense_Mutation SNP C C T TCGA-FG-6690-01 TCGA-FG-6690-10 Untested Somatic Phase_I WXS none Illumina GAIIx 86 29 ENST00000315757.7:c.919G>A p.Gly307Arg p.G307R ENST00000315757 NM_001004439.1 307 Ggg/Agg 0 0.502 GGATTGATCCCCCTGCGGTTG ATXN2L 11273 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 16 28846974 28846974 + synonymous_variant Silent SNP T T C TCGA-FG-6690-01 TCGA-FG-6690-10 Untested Somatic Phase_I WXS none Illumina GAIIx 72 9 ENST00000395547.2:c.2790T>C p.Pro930= p.P930= ENST00000395547 NM_148414.2 930 ccT/ccC 0 0.662 CACCGGGACCTTCTGCCCAGT TP53 7157 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 7577568 7577568 + missense_variant Missense_Mutation SNP C C T TCGA-FG-6690-01 TCGA-FG-6690-10 Untested Somatic Phase_I WXS none Illumina GAIIx 76 46 ENST00000269305.4:c.713G>A p.Cys238Tyr p.C238Y ENST00000269305 NM_001126112.2 238 tGt/tAt 0 0.572 GGAACTGTTACACATGTAGTT TP53 7157 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 7578263 7578263 + stop_gained Nonsense_Mutation SNP G G A TCGA-FG-6690-01 TCGA-FG-6690-10 Untested Somatic Phase_I WXS none Illumina GAIIx 35 27 ENST00000269305.4:c.586C>T p.Arg196Ter p.R196* ENST00000269305 NM_001126112.2 196 Cga/Tga 0 0.552 CCTTCCACTCGGATAAGATGC MUC16 94025 hgsc.bcm.edu;broad.mit.edu GRCh37 19 9086351 9086351 + missense_variant Missense_Mutation SNP T T A TCGA-FG-6690-01 TCGA-FG-6690-10 Untested Somatic Phase_I WXS none Illumina GAIIx 137 8 ENST00000397910.4:c.5464A>T p.Thr1822Ser p.T1822S ENST00000397910 NM_024690.2 1822 Act/Tct 0 0.483 ATTGATGGAGTTGGAGATGGA SMARCA4 6597 hgsc.bcm.edu;broad.mit.edu GRCh37 19 11098500 11098500 + missense_variant Missense_Mutation SNP G G A TCGA-FG-6690-01 TCGA-FG-6690-10 Untested Somatic Phase_I WXS none Illumina GAIIx 7 11 ENST00000344626.4:c.1018G>A p.Ala340Thr p.A340T ENST00000344626 NM_003072.3 340 Gcg/Acg 0 0.746 GGCCCAGCCCGCGCCCATGGT ATP4A 495 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 19 36054521 36054521 + missense_variant,splice_region_variant Missense_Mutation SNP G G A TCGA-FG-6690-01 TCGA-FG-6690-10 Untested Somatic Phase_I WXS none Illumina GAIIx 46 9 ENST00000262623.3:c.11C>T p.Ala4Val p.A4V ENST00000262623 NM_000704.2 4 gCc/gTc 0 0.652 CCCACTCACGGCCTTCCCCAT PANK4 55229 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 2440330 2440330 + missense_variant Missense_Mutation SNP G G A TCGA-FG-6690-01 TCGA-FG-6690-10 Untested Somatic Phase_I WXS none Illumina GAIIx 24 19 ENST00000378466.3:c.2278C>T p.Arg760Trp p.R760W ENST00000378466 NM_018216.1 760 Cgg/Tgg 0 0.622 CTGAAGAGCCGGCCGCCCAGC ZZZ3 26009 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 78041829 78041829 + missense_variant Missense_Mutation SNP G G A TCGA-FG-6690-01 TCGA-FG-6690-10 Untested Somatic Phase_I WXS none Illumina GAIIx 68 39 ENST00000370801.3:c.2255C>T p.Pro752Leu p.P752L ENST00000370801 NM_015534.4 752 cCg/cTg 0 0.378 ATACACTGGCGGTTCATGTGA RBMXL1 494115 hgsc.bcm.edu;broad.mit.edu GRCh37 1 89448635 89448635 + missense_variant Missense_Mutation SNP C C T TCGA-FG-6690-01 TCGA-FG-6690-10 Untested Somatic Phase_I WXS none Illumina GAIIx 301 19 ENST00000399794.2:c.875G>A p.Arg292His p.R292H ENST00000399794 NM_001162536.2 292 cGt/cAt 0 0.483 TGGAGCACTACGTGAGTTACC ZNF831 128611 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 20 57769660 57769660 + missense_variant Missense_Mutation SNP G G A TCGA-FG-6690-01 TCGA-FG-6690-10 Untested Somatic Phase_I WXS none Illumina GAIIx 24 25 ENST00000371030.2:c.3586G>A p.Ala1196Thr p.A1196T ENST00000371030 NM_178457.2 1196 Gcg/Acg 0 0.637 CCCTCTGCCCGCGGAGCAGAA IDH1 3417 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T rs121913500 TCGA-FG-6690-01 TCGA-FG-6690-10 Untested Somatic Phase_I WXS none Illumina GAIIx 75 24 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 0.393 ATAAGCATGACGACCTATGAT MSX2 4488 hgsc.bcm.edu;broad.mit.edu GRCh37 5 174156254 174156254 + missense_variant Missense_Mutation SNP G G A TCGA-FG-6690-01 TCGA-FG-6690-10 Untested Somatic Phase_I WXS none Illumina GAIIx 78 4 ENST00000239243.6:c.472G>A p.Glu158Lys p.E158K ENST00000239243 NM_002449.4 158 Gag/Aag 0 0.552 CCTCGCCCTGGAGCGCAAGTT DNAH8 1769 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 6 38976646 38976646 + missense_variant Missense_Mutation SNP A A G TCGA-FG-6690-01 TCGA-FG-6690-10 Untested Somatic Phase_I WXS none Illumina GAIIx 158 87 ENST00000359357.3:c.12620A>G p.Lys4207Arg p.K4207R ENST00000359357 4207 aAa/aGa 0 0.423 ATTCAACCCAAAGAGAGTGGA PHF10 55274 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 6 170112612 170112612 + missense_variant Missense_Mutation SNP T T C TCGA-FG-6690-01 TCGA-FG-6690-10 Untested Somatic Phase_I WXS none Illumina GAIIx 117 10 ENST00000339209.4:c.827A>G p.Tyr276Cys p.Y276C ENST00000339209 NM_133325.2 276 tAt/tGt 0 0.438 TAATGGCAGATACCGCAGCTC TNFSF15 9966 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 9 117552881 117552881 + missense_variant Missense_Mutation SNP C C T rs150498686 TCGA-FG-6690-01 TCGA-FG-6690-10 Untested Somatic Phase_I WXS none Illumina GAIIx 62 10 ENST00000374045.4:c.607G>A p.Glu203Lys p.E203K ENST00000374045 NM_005118.3 203 Gaa/Aaa 0 0.527 CTACCTACTTCGCATACAGAC ATRX 546 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 76939522 76939522 + stop_gained Nonsense_Mutation SNP A A T rs122445109 TCGA-FG-6690-01 TCGA-FG-6690-10 Untested Somatic Phase_I WXS none Illumina GAIIx 64 241 ENST00000373344.5:c.1226T>A p.Leu409Ter p.L409* ENST00000373344 NM_000489.3 409 tTg/tAg 0 0.363 GTCTTCTTCCAATGCAAGATG CCNB1IP1 57820 broad.mit.edu;ucsc.edu GRCh37 14 20779861 20779861 + missense_variant Missense_Mutation SNP C C T TCGA-FG-6690-01 TCGA-FG-6690-10 Untested Somatic Phase_I WXS none Illumina GAIIx 103 8 ENST00000398169.3:c.682G>A p.Asp228Asn p.D228N ENST00000398169 228 Gat/Aat 0 0.398 CCATCTCCATCGCCCCGATTT RIOK3 8780 broad.mit.edu;ucsc.edu GRCh37 18 21057190 21057190 + missense_variant Missense_Mutation SNP C C A rs56187215 TCGA-FG-6690-01 TCGA-FG-6690-10 Untested Somatic Phase_I WXS none Illumina GAIIx 70 53 ENST00000339486.3:c.1302C>A p.His434Gln p.H434Q ENST00000339486 NM_003831.3 434 caC/caA 0 0.413 CCCACCCTCACGGCCTGGAGT HSP90AB2P 391634 broad.mit.edu;ucsc.edu GRCh37 4 13339305 13339305 + non_coding_transcript_exon_variant RNA SNP A A T TCGA-FG-6690-01 TCGA-FG-6690-10 Untested Somatic Phase_I WXS none Illumina GAIIx 21 6 ENST00000507090.2:n.1200A>T *400* ENST00000507090 0 0.423 AAAATCTTCAAAGTCATTCAC MYH2 4620 broad.mit.edu;ucsc.edu GRCh37 17 10451106 10451106 + missense_variant Missense_Mutation SNP T T A TCGA-FG-6690-01 TCGA-FG-6690-10 Untested Somatic Phase_I WXS none Illumina GAIIx 122 83 ENST00000245503.5:c.132A>T p.Lys44Asn p.K44N ENST00000245503 NM_017534.5 44 aaA/aaT 0 0.537 CAAAGGATTCTTTGGGCTCCG MS4A3 932 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 11 59830060 59830060 + synonymous_variant Silent SNP G G A TCGA-HT-8108-01 TCGA-HT-8108-10 Untested Somatic Phase_I WXS none Illumina GAIIx 63 51 ENST00000278865.3:c.276G>A p.Pro92= p.P92= ENST00000278865 NM_006138.4 92 ccG/ccA 0 0.423 CAGGCTACCCGATTTGGGGTG IL18 3606 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 11 112014361 112014361 + missense_variant Missense_Mutation SNP C C A TCGA-HT-8108-01 TCGA-HT-8108-10 Untested Somatic Phase_I WXS none Illumina GAIIx 12 6 ENST00000280357.7:c.540G>T p.Leu180Phe p.L180F ENST00000280357 NM_001562.3 180 ttG/ttT 0 0.388 ATCTATCCCCCAATTCATCCT CADM1 23705 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 11 115109342 115109342 + missense_variant Missense_Mutation SNP T T C TCGA-HT-8108-01 TCGA-HT-8108-10 Untested Somatic Phase_I WXS none Illumina GAIIx 28 28 ENST00000452722.3:c.302A>G p.Asn101Ser p.N101S ENST00000452722 NM_014333.3 101 aAt/aGt 0 0.393 GCTAGAAAAATTCAGCAACTG KERA 11081 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 12 91445220 91445220 + missense_variant Missense_Mutation SNP T T C TCGA-HT-8108-01 TCGA-HT-8108-10 Untested Somatic Phase_I WXS none Illumina GAIIx 32 13 ENST00000266719.3:c.962A>G p.His321Arg p.H321R ENST00000266719 NM_007035.3 321 cAt/cGt 0 0.438 GTAGCGAAGATGAGGTCCATA CDK10 8558 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 16 89755723 89755723 + missense_variant Missense_Mutation SNP G G A TCGA-HT-8108-01 TCGA-HT-8108-10 Untested Somatic Phase_I WXS none Illumina GAIIx 48 30 ENST00000353379.7:c.151G>A p.Gly51Ser p.G51S ENST00000353379 NM_052988.4 51 Ggc/Agc 0 0.582 GGGTACCTACGGCATTGTGTG GNAL 2774 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 18 11880999 11880999 + synonymous_variant Silent SNP G G A TCGA-HT-8108-01 TCGA-HT-8108-10 Untested Somatic Phase_I WXS none Illumina GAIIx 53 31 ENST00000334049.6:c.1242G>A p.Thr414= p.T414= ENST00000334049 NM_182978.3 414 acG/acA 0 0.622 GGATCAGCACGGCCACCGGTG TTN 7273 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 179593263 179593263 + missense_variant Missense_Mutation SNP C C T TCGA-HT-8108-01 TCGA-HT-8108-10 Untested Somatic Phase_I WXS none Illumina GAIIx 15 5 ENST00000589042.1:c.19390G>A p.Gly6464Arg p.G6464R ENST00000589042 NM_001267550.1 6464 Gga/Aga 0 0.398 CTACTGCTTCCGAAGTCATTT IDH1 3417 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T rs121913500 TCGA-HT-8108-01 TCGA-HT-8108-10 Untested Somatic Phase_I WXS none Illumina GAIIx 54 35 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 0.393 ATAAGCATGACGACCTATGAT EIF4A2 1974 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 3 186501406 186501406 + missense_variant Missense_Mutation SNP G G T TCGA-HT-8108-01 TCGA-HT-8108-10 Untested Somatic Phase_I WXS none Illumina GAIIx 100 59 ENST00000323963.5:c.7G>T p.Gly3Cys p.G3C ENST00000323963 3 Ggt/Tgt 0 0.572 GATCATGTCTGGTGGCTCCGC BBS7 55212 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 4 122756377 122756377 + missense_variant Missense_Mutation SNP G G T TCGA-HT-8108-01 TCGA-HT-8108-10 Untested Somatic Phase_I WXS none Illumina GAIIx 47 18 ENST00000264499.4:c.1433C>A p.Pro478His p.P478H ENST00000264499 NM_176824.2 478 cCc/cAc 0 0.393 ACAGGTTTTGGGTTGAATTCT ROPN1L 83853 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 5 10461352 10461352 + synonymous_variant Silent SNP C C T TCGA-HT-8108-01 TCGA-HT-8108-10 Untested Somatic Phase_I WXS none Illumina GAIIx 99 60 ENST00000503804.1:c.474C>T p.Gly158= p.G158= ENST00000503804 158 ggC/ggT 0 0.567 ATCCGGAGGGCGGGCCCGCTC SIM1 6492 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 6 100911318 100911318 + synonymous_variant Silent SNP C C T TCGA-HT-8108-01 TCGA-HT-8108-10 Untested Somatic Phase_I WXS none Illumina GAIIx 162 32 ENST00000369208.3:c.27G>A p.Ala9= p.A9= ENST00000369208 9 gcG/gcA 0 0.423 TCCTAGTCCGCGCAGCATTTT OPHN1 4983 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 67414334 67414334 + missense_variant Missense_Mutation SNP G G C TCGA-HT-8108-01 TCGA-HT-8108-10 Untested Somatic Phase_I WXS none Illumina GAIIx 28 19 ENST00000355520.5:c.1111C>G p.His371Asp p.H371D ENST00000355520 NM_002547.2 371 Cac/Gac 0 0.348 ATAGGGCTGTGGTAGATCTAC IRS4 8471 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 107979043 107979043 + missense_variant Missense_Mutation SNP C C G TCGA-HT-8108-01 TCGA-HT-8108-10 Untested Somatic Phase_I WXS none Illumina GAIIx 75 30 ENST00000372129.2:c.532G>C p.Ala178Pro p.A178P ENST00000372129 NM_003604.2 178 Gcg/Ccg 0 0.612 GCCACCATCGCGAAGTATTCG TENM1 10178 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 123518058 123518058 + synonymous_variant Silent SNP C C T TCGA-HT-8108-01 TCGA-HT-8108-10 Untested Somatic Phase_I WXS none Illumina GAIIx 67 47 ENST00000422452.2:c.6723G>A p.Leu2241= p.L2241= ENST00000422452 NM_001163279.1 2241 ctG/ctA 0 0.458 AGGCTTTCTGCAGCAGGCCAT RENBP 5973 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 153208518 153208518 + missense_variant Missense_Mutation SNP T T G TCGA-HT-8108-01 TCGA-HT-8108-10 Untested Somatic Phase_I WXS none Illumina GAIIx 20 21 ENST00000393700.3:c.476A>C p.Glu159Ala p.E159A ENST00000393700 NM_002910.5 159 gAg/gCg 0 0.711 ATCCATCATCTCCACCGCTTC SYNE1 23345 broad.mit.edu;ucsc.edu GRCh37 6 152485384 152485384 + missense_variant Missense_Mutation SNP C C T TCGA-HT-8108-01 TCGA-HT-8108-10 Untested Somatic Phase_I WXS none Illumina GAIIx 25 57 ENST00000367255.5:c.23704G>A p.Ala7902Thr p.A7902T ENST00000367255 NM_182961.3 7902 Gct/Act 0 0.502 TCGATGTGAGCGAGCCAGGTC IL36B 27177 broad.mit.edu;ucsc.edu GRCh37 2 113788702 113788702 + missense_variant Missense_Mutation SNP C C T TCGA-HT-8108-01 TCGA-HT-8108-10 Untested Somatic Phase_I WXS none Illumina GAIIx 43 17 ENST00000259213.4:c.44G>A p.Arg15His p.R15H ENST00000259213 NM_014438.4 15 cGt/cAt 0 0.478 TCGAGAATCACGAATAGCATA TP53 7157 broad.mit.edu;hgsc.bcm.edu GRCh37 17 7578471 7578471 + frameshift_variant Frame_Shift_Del DEL G G - rs137852790 TCGA-HT-8108-01 TCGA-HT-8108-10 Untested Somatic Phase_I WXS none Illumina GAIIx 28 70 ENST00000269305.4:c.459delC p.Gly154AlafsTer16 p.G154Afs*16 ENST00000269305 NM_001126112.2 153 ccC/cc 0 0.612 CGCGGGTGCCGGGCGGGGGTG ATRX 546 broad.mit.edu;hgsc.bcm.edu GRCh37 X 76813062 76813063 + frameshift_variant Frame_Shift_Ins INS - - AG TCGA-HT-8108-01 TCGA-HT-8108-10 Untested Somatic Phase_I WXS none Illumina GAIIx 101 65 ENST00000373344.5:c.6557_6558dupCT p.Phe2187LeufsTer16 p.F2187Lfs*16 ENST00000373344 NM_000489.3 2186 -/CT 0 0.347 ACAACTCGAAAAGACAGTGACT KNDC1 85442 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 10 135038195 135038195 + missense_variant Missense_Mutation SNP C C T TCGA-E1-5318-01 TCGA-E1-5318-10 Untested Somatic Phase_I WXS none Illumina GAIIx 59 25 ENST00000304613.3:c.5051C>T p.Ala1684Val p.A1684V ENST00000304613 1684 gCg/gTg 0 0.597 CAGGTGCACGCGTTCCAGGAG OR52B6 340980 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 11 5602864 5602864 + missense_variant Missense_Mutation SNP G G A TCGA-E1-5318-01 TCGA-E1-5318-10 Untested Somatic Phase_I WXS none Illumina GAIIx 340 43 ENST00000345043.2:c.758G>A p.Arg253His p.R253H ENST00000345043 NM_001005162.2 253 cGc/cAc 0 0.507 CAAGATGCCCGCTCCAAGGCC MS4A6E 245802 hgsc.bcm.edu;broad.mit.edu GRCh37 11 60105367 60105367 + missense_variant Missense_Mutation SNP G G T TCGA-E1-5318-01 TCGA-E1-5318-10 Untested Somatic Phase_I WXS none Illumina GAIIx 199 14 ENST00000300182.4:c.301G>T p.Asp101Tyr p.D101Y ENST00000300182 NM_139249.2 101 Gat/Tat 0 0.403 TCTTTCTTATGATTATCATTC AHNAK 79026 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 11 62299210 62299210 + synonymous_variant Silent SNP C C T TCGA-E1-5318-01 TCGA-E1-5318-10 Untested Somatic Phase_I WXS none Illumina GAIIx 348 280 ENST00000378024.4:c.2679G>A p.Glu893= p.E893= ENST00000378024 NM_001620.2 893 gaG/gaA 0 0.517 CTTCTGGGCCCTCTGCTTTGA CWF19L2 143884 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 11 107224323 107224323 + missense_variant Missense_Mutation SNP T T C TCGA-E1-5318-01 TCGA-E1-5318-10 Untested Somatic Phase_I WXS none Illumina GAIIx 79 50 ENST00000282251.5:c.2012A>G p.Gln671Arg p.Q671R ENST00000282251 NM_152434.2 671 cAa/cGa 0 0.393 TTTTTCCATTTGTGCAGCAAG KSR2 283455 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 12 118016978 118016978 + missense_variant Missense_Mutation SNP G G A TCGA-E1-5318-01 TCGA-E1-5318-10 Untested Somatic Phase_I WXS none Illumina GAIIx 52 7 ENST00000339824.5:c.1271C>T p.Thr424Met p.T424M ENST00000339824 424 aCg/aTg 0 0.468 GACTGTGCACGTCTGAGACAT LMO7 4008 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 13 76382215 76382215 + missense_variant Missense_Mutation SNP G G A TCGA-E1-5318-01 TCGA-E1-5318-10 Untested Somatic Phase_I WXS none Illumina GAIIx 59 26 ENST00000465261.2:c.1097G>A p.Gly366Glu p.G366E ENST00000465261 NM_015842.2 366 gGa/gAa 0 0.498 TGGAAACTGGGAACTACCGTG CYP1A1 1543 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 15 75012968 75012968 + synonymous_variant Silent SNP G G C TCGA-E1-5318-01 TCGA-E1-5318-10 Untested Somatic Phase_I WXS none Illumina GAIIx 141 35 ENST00000379727.3:c.1401C>G p.Val467= p.V467= ENST00000379727 467 gtC/gtG 0 0.542 GGAAGAGAAAGACCTCCCAGC IDH2 3418 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 15 90631838 90631838 + missense_variant Missense_Mutation SNP C C A rs121913503 TCGA-E1-5318-01 TCGA-E1-5318-10 Untested Somatic Phase_I WXS none Illumina GAIIx 88 65 ENST00000330062.3:c.515G>T p.Arg172Met p.R172M ENST00000330062 NM_002168.2 172 aGg/aTg 0 0.632 ATGGGCGTGCCTGCCAATGGT CDH5 1003 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 16 66436644 66436644 + missense_variant Missense_Mutation SNP G G A TCGA-E1-5318-01 TCGA-E1-5318-10 Untested Somatic Phase_I WXS none Illumina GAIIx 17 5 ENST00000341529.3:c.1927G>A p.Val643Ile p.V643I ENST00000341529 NM_001795.3 643 Gtc/Atc 0 0.711 CGAGCAGCTGGTCACCTACGA KRT33B 3884 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 39521763 39521763 + missense_variant Missense_Mutation SNP C C T TCGA-E1-5318-01 TCGA-E1-5318-10 Untested Somatic Phase_I WXS none Illumina GAIIx 40 27 ENST00000251646.3:c.631G>A p.Val211Met p.V211M ENST00000251646 NM_002279.4 211 Gtg/Atg 0 0.522 TCCACCTCCACGTTGAGGCGG ELL 8178 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 19 18557617 18557617 + synonymous_variant Silent SNP G G A rs73923115 byFrequency TCGA-E1-5318-01 TCGA-E1-5318-10 Untested Somatic Phase_I WXS none Illumina GAIIx 55 13 ENST00000262809.4:c.1473C>T p.Asn491= p.N491= ENST00000262809 NM_006532.3 491 aaC/aaT 0 0.572 TGCAGGTTCCGTTTAAACCTA PRODH2 58510 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 19 36302867 36302867 + synonymous_variant Silent SNP C C T TCGA-E1-5318-01 TCGA-E1-5318-10 Untested Somatic Phase_I WXS none Illumina GAIIx 14 24 ENST00000301175.3:c.822G>A p.Gly274= p.G274= ENST00000301175 NM_021232.1 274 ggG/ggA 0 0.597 TCCTTACCTGCCCAGAGTCCA KLK4 9622 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 19 51411835 51411835 + missense_variant,splice_region_variant Missense_Mutation SNP C C T TCGA-E1-5318-01 TCGA-E1-5318-10 Untested Somatic Phase_I WXS none Illumina GAIIx 85 8 ENST00000324041.1:c.475G>A p.Gly159Ser p.G159S ENST00000324041 NM_004917.3 159 Ggc/Agc 0 0.637 GTGAGCTCACCGTTCGCCAGC HRNR 388697 hgsc.bcm.edu;broad.mit.edu GRCh37 1 152193228 152193228 + missense_variant Missense_Mutation SNP A A G TCGA-E1-5318-01 TCGA-E1-5318-10 Untested Somatic Phase_I WXS none Illumina GAIIx 317 15 ENST00000368801.2:c.877T>C p.Ser293Pro p.S293P ENST00000368801 NM_001009931.2 293 Tct/Cct 0 0.607 TGGCCCAAAGACTGACGGGAA SELE 6401 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 169698637 169698637 + missense_variant Missense_Mutation SNP G G A TCGA-E1-5318-01 TCGA-E1-5318-10 Untested Somatic Phase_I WXS none Illumina GAIIx 103 87 ENST00000333360.7:c.893C>T p.Thr298Met p.T298M ENST00000333360 NM_000450.2 298 aCg/aTg 0 0.443 ACCTTTACACGTTGGCTTCTC IL1RL2 8808 hgsc.bcm.edu;broad.mit.edu GRCh37 2 102805614 102805614 + missense_variant Missense_Mutation SNP C C A TCGA-E1-5318-01 TCGA-E1-5318-10 Untested Somatic Phase_I WXS none Illumina GAIIx 151 10 ENST00000264257.2:c.137C>A p.Pro46His p.P46H ENST00000264257 NM_003854.2 46 cCc/cAc 0 0.378 ACATTCCCTCCCATAACATCT NEB 4703 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 152521900 152521900 + missense_variant Missense_Mutation SNP T T A TCGA-E1-5318-01 TCGA-E1-5318-10 Untested Somatic Phase_I WXS none Illumina GAIIx 41 33 ENST00000397345.3:c.5185A>T p.Met1729Leu p.M1729L ENST00000397345 NM_001164508.1 1729 Atg/Ttg 0 0.507 ATTGTGTCCATGGCGTAAGTG KLHL30 377007 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 239051515 239051515 + missense_variant Missense_Mutation SNP G G A TCGA-E1-5318-01 TCGA-E1-5318-10 Untested Somatic Phase_I WXS none Illumina GAIIx 18 6 ENST00000409223.1:c.850G>A p.Ala284Thr p.A284T ENST00000409223 284 Gca/Aca 0 0.672 GGAGGAGGAGGCAGGTGAGGA SI 6476 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 3 164776970 164776970 + missense_variant Missense_Mutation SNP A A G rs148511215 by1000genomes TCGA-E1-5318-01 TCGA-E1-5318-10 Untested Somatic Phase_I WXS none Illumina GAIIx 102 16 ENST00000264382.3:c.1264T>C p.Tyr422His p.Y422H ENST00000264382 NM_001041.3 422 Tat/Cat 0 0.323 ATGATGACATATTTCTGTCCA FSTL5 56884 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 4 162577528 162577528 + stop_gained Nonsense_Mutation SNP C C T TCGA-E1-5318-01 TCGA-E1-5318-10 Untested Somatic Phase_I WXS none Illumina GAIIx 106 18 ENST00000306100.5:c.846G>A p.Trp282Ter p.W282* ENST00000306100 NM_001128427.2 282 tgG/tgA 0 0.353 TGTTCCTTTTCCAGATAATGG PSD3 23362 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 8 18725224 18725224 + missense_variant Missense_Mutation SNP T T C rs62636654 TCGA-E1-5318-01 TCGA-E1-5318-10 Untested Somatic Phase_I WXS none Illumina GAIIx 111 73 ENST00000327040.8:c.1594A>G p.Ile532Val p.I532V ENST00000327040 NM_015310.3 532 Atc/Gtc 0 0.507 TTCGTGTAGATGGAGTCGCTG KCNU1 157855 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 8 36671795 36671795 + missense_variant Missense_Mutation SNP A A G TCGA-E1-5318-01 TCGA-E1-5318-10 Untested Somatic Phase_I WXS none Illumina GAIIx 63 8 ENST00000399881.3:c.803A>G p.Tyr268Cys p.Y268C ENST00000399881 NM_001031836.2 268 tAc/tGc 0 0.433 GAGTCAATTTACCTGGTCATG KLHL9 55958 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 9 21333865 21333865 + missense_variant Missense_Mutation SNP G G A TCGA-E1-5318-01 TCGA-E1-5318-10 Untested Somatic Phase_I WXS none Illumina GAIIx 145 91 ENST00000359039.4:c.994C>T p.Pro332Ser p.P332S ENST00000359039 332 Cca/Tca 0 0.418 GCATCCATTGGGGCTAAAGAT SIT1 27240 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 9 35650242 35650242 + missense_variant,splice_region_variant Missense_Mutation SNP C C T TCGA-E1-5318-01 TCGA-E1-5318-10 Untested Somatic Phase_I WXS none Illumina GAIIx 78 55 ENST00000259608.3:c.296G>A p.Gly99Glu p.G99E ENST00000259608 NM_014450.2 99 gGa/gAa 0 0.627 AGACAGCCGTCCTGGGACGGG ARSE 415 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 2867631 2867631 + missense_variant Missense_Mutation SNP G G A TCGA-E1-5318-01 TCGA-E1-5318-10 Untested Somatic Phase_I WXS none Illumina GAIIx 77 9 ENST00000381134.3:c.568C>T p.Arg190Cys p.R190C ENST00000381134 NM_000047.2 190 Cgt/Tgt 0 0.527 AGGTTGACACGCTTCTCTGAG MAGEB2 4113 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 30237371 30237371 + missense_variant Missense_Mutation SNP A A T TCGA-E1-5318-01 TCGA-E1-5318-10 Untested Somatic Phase_I WXS none Illumina GAIIx 63 14 ENST00000378988.4:c.674A>T p.Glu225Val p.E225V ENST00000378988 NM_002364.4 225 gAa/gTa 0 0.483 GAGATCTGGGAATTCCTGAAT PGRMC1 10857 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 118370561 118370561 + missense_variant Missense_Mutation SNP C C T TCGA-E1-5318-01 TCGA-E1-5318-10 Untested Somatic Phase_I WXS none Illumina GAIIx 31 16 ENST00000217971.7:c.235C>T p.Arg79Trp p.R79W ENST00000217971 NM_006667.3 79 Cgg/Tgg 0 0.711 CGCCGAGCTGCGGCGCTTCGA LAMP2 3920 hgsc.bcm.edu;broad.mit.edu GRCh37 X 119581704 119581704 + stop_gained Nonsense_Mutation SNP G G A TCGA-E1-5318-01 TCGA-E1-5318-10 Untested Somatic Phase_I WXS none Illumina GAIIx 258 19 ENST00000434600.2:c.733C>T p.Gln245Ter p.Q245* ENST00000434600 NM_001122606.1 245 Cag/Tag 0 0.403 ACCTTATCCTGAGTGATGTTC NAIP 4671 broad.mit.edu;ucsc.edu GRCh37 5 70308387 70308387 + missense_variant Missense_Mutation SNP C C T TCGA-E1-5318-01 TCGA-E1-5318-10 Untested Somatic Phase_I WXS none Illumina GAIIx 98 65 ENST00000517649.1:c.356G>A p.Arg119Lys p.R119K ENST00000517649 NM_004536.2 119 aGg/aAg 0 0.473 TGGATGAAACCTCTTGTGGTC HTR7P1 93164 broad.mit.edu;ucsc.edu GRCh37 12 13155006 13155006 + non_coding_transcript_exon_variant RNA SNP G G C TCGA-E1-5318-01 TCGA-E1-5318-10 Untested Somatic Phase_I WXS none Illumina GAIIx 15 4 ENST00000331998.1:n.1458G>C *486* ENST00000331998 0 0.483 CGTACCCTATGAGGCAGAAGG PDHA1 5160 broad.mit.edu;ucsc.edu GRCh37 X 19368118 19368118 + missense_variant Missense_Mutation SNP G G C TCGA-E1-5318-01 TCGA-E1-5318-10 Untested Somatic Phase_I WXS none Illumina GAIIx 98 75 ENST00000379806.5:c.295G>C p.Gly99Arg p.G99R ENST00000379806 NM_001173454.1 99 Ggg/Cgg 0 0.453 CAGGGAGGATGGGCTCAAATA BRWD1 54014 broad.mit.edu;ucsc.edu GRCh37 21 40590181 40590181 + missense_variant Missense_Mutation SNP C C T rs75547980 TCGA-E1-5318-01 TCGA-E1-5318-10 Untested Somatic Phase_I WXS none Illumina GAIIx 145 23 ENST00000333229.2:c.3556G>A p.Ala1186Thr p.A1186T ENST00000333229 NM_018963.4 1186 Gca/Aca 0 0.368 ACAGGGCCTGCAAAAGCTGCT CIC 23152 broad.mit.edu;hgsc.bcm.edu GRCh37 19 42795241 42795242 + frameshift_variant Frame_Shift_Ins INS - - GCCCCCT TCGA-E1-5318-01 TCGA-E1-5318-10 Untested Somatic Phase_I WXS none Illumina GAIIx 30 10 ENST00000575354.2:c.2324_2330dupCCCCTGC p.Val778ProfsTer155 p.V778Pfs*155 ENST00000575354 NM_015125.3 774 gcg/gcGCCCCCTg 0 0.698 GGGGCCCCTGCGCCCCCTGCTG BCOR 54880 broad.mit.edu;hgsc.bcm.edu GRCh37 X 39933875 39933875 + frameshift_variant Frame_Shift_Del DEL C C - TCGA-E1-5318-01 TCGA-E1-5318-10 Untested Somatic Phase_I WXS none Illumina GAIIx 66 42 ENST00000378444.4:c.724delG p.Glu242SerfsTer24 p.E242Sfs*24 ENST00000378444 NM_001123385.1 242 Gag/ag 0 0.577 AGAAAGCGCTCCCCATTGGTG NOTCH1 4851 ucsc.edu GRCh37 9 139418186 139418186 + missense_variant Missense_Mutation SNP C C T TCGA-E1-5318-01 TCGA-E1-5318-10 Untested Somatic Phase_I WXS none Illumina GAIIx 16 2 ENST00000277541.6:c.386G>A p.Cys129Tyr p.C129Y ENST00000277541 NM_017617.3 129 tGc/tAc 0 0.697 GCCGGGCGGGCAGCGGCACTT KIAA1217 56243 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 10 24832988 24832988 + stop_gained Nonsense_Mutation SNP A A T TCGA-IK-8125-01 TCGA-IK-8125-10 Untested Somatic Phase_I WXS none Illumina GAIIx 122 13 ENST00000376454.3:c.4789A>T p.Lys1597Ter p.K1597* ENST00000376454 NM_019590.3 1597 Aag/Tag 0 0.463 TAAAACAGGGAAGAAGACTTT AGAP5 729092 hgsc.bcm.edu;broad.mit.edu GRCh37 10 75457306 75457306 + stop_gained Nonsense_Mutation SNP G G A TCGA-IK-8125-01 TCGA-IK-8125-10 Untested Somatic Phase_I WXS none Illumina GAIIx 197 15 ENST00000374094.4:c.208C>T p.Gln70Ter p.Q70* ENST00000374094 NM_001144000.1 70 Cag/Tag 0 0.592 GGCATCTCCTGGTCACGAATG HELLS 3070 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 10 96352241 96352241 + synonymous_variant Silent SNP G G A TCGA-IK-8125-01 TCGA-IK-8125-10 Untested Somatic Phase_I WXS none Illumina GAIIx 44 12 ENST00000348459.5:c.1941G>A p.Gly647= p.G647= ENST00000348459 NM_018063.3 647 ggG/ggA 0 0.343 GGCTTGATGGGTCCATGTCTT SLIT1 6585 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 10 98764460 98764460 + missense_variant Missense_Mutation SNP C C T TCGA-IK-8125-01 TCGA-IK-8125-10 Untested Somatic Phase_I WXS none Illumina GAIIx 65 15 ENST00000266058.4:c.3700G>A p.Ala1234Thr p.A1234T ENST00000266058 NM_003061.2 1234 Gcc/Acc 0 0.602 CTGTAGATGGCAGAGCTGGGG MAP3K12 7786 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 12 53877509 53877509 + splice_acceptor_variant Splice_Site SNP T T A TCGA-IK-8125-01 TCGA-IK-8125-10 Untested Somatic Phase_I WXS none Illumina GAIIx 64 8 ENST00000547035.1:c.1359-2A>T p.X453_splice ENST00000547035 0 0.507 AGGGCGTGTCTGCAACGGGCA SMUG1 23583 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 12 54577582 54577582 + missense_variant Missense_Mutation SNP G G A rs149806805 byFrequency TCGA-IK-8125-01 TCGA-IK-8125-10 Untested Somatic Phase_I WXS none Illumina GAIIx 55 6 ENST00000508394.2:c.143C>T p.Ser48Leu p.S48L ENST00000508394 NM_001243788.1 48 tCg/tTg 0 0.597 CACAGGCTCCGAAAACTGCAG TBX5 6910 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 12 114793348 114793348 + missense_variant Missense_Mutation SNP C C T TCGA-IK-8125-01 TCGA-IK-8125-10 Untested Somatic Phase_I WXS none Illumina GAIIx 56 8 ENST00000310346.4:c.1546G>A p.Asp516Asn p.D516N ENST00000310346 NM_000192.3 516 Gac/Aac 0 0.517 TAGCTATTGTCGCTCCACTCT TRPM1 4308 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 15 31359319 31359319 + missense_variant Missense_Mutation SNP C C T TCGA-IK-8125-01 TCGA-IK-8125-10 Untested Somatic Phase_I WXS none Illumina GAIIx 74 50 ENST00000542188.1:c.616G>A p.Gly206Arg p.G206R ENST00000542188 NM_001252020.1 206 Gga/Aga 0 0.453 GGAGCAATTCCTATAGCACAA SPPL2A 84888 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 15 51017471 51017471 + missense_variant Missense_Mutation SNP C C G TCGA-IK-8125-01 TCGA-IK-8125-10 Untested Somatic Phase_I WXS none Illumina GAIIx 120 52 ENST00000261854.5:c.1196G>C p.Ser399Thr p.S399T ENST00000261854 NM_032802.3 399 aGt/aCt 0 0.313 GAGGCACACACTCATTACTGA TPM1 7168 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 15 63336271 63336271 + missense_variant Missense_Mutation SNP G G A rs104894505 TCGA-IK-8125-01 TCGA-IK-8125-10 Untested Somatic Phase_I WXS none Illumina GAIIx 25 9 ENST00000358278.3:c.160G>A p.Glu54Lys p.E54K ENST00000358278 NM_001018006.1 54 Gaa/Aaa 0 0.562 CAAGGGCACCGAAGATGAACT NEO1 4756 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 15 73428355 73428355 + missense_variant Missense_Mutation SNP G G C TCGA-IK-8125-01 TCGA-IK-8125-10 Untested Somatic Phase_I WXS none Illumina GAIIx 32 17 ENST00000339362.5:c.1002G>C p.Glu334Asp p.E334D ENST00000339362 334 gaG/gaC 0 0.373 CTCAAGCAGAGCTTACAGTGC SMAD2 4087 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 18 45422914 45422914 + missense_variant Missense_Mutation SNP T T C TCGA-IK-8125-01 TCGA-IK-8125-10 Untested Somatic Phase_I WXS none Illumina GAIIx 86 9 ENST00000262160.6:c.214A>G p.Thr72Ala p.T72A ENST00000262160 NM_005901.5 72 Act/Gct 0 0.368 ACACATTTAGTATTACAGTTT DAPK3 1613 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 19 3964722 3964722 + synonymous_variant Silent SNP C C T TCGA-IK-8125-01 TCGA-IK-8125-10 Untested Somatic Phase_I WXS none Illumina GAIIx 133 17 ENST00000545797.2:c.330G>A p.Ser110= p.S110= ENST00000545797 110 tcG/tcA 0 0.592 CCTCCGTCAGCGACTCCTTCT C3 718 hgsc.bcm.edu;broad.mit.edu GRCh37 19 6718386 6718386 + missense_variant Missense_Mutation SNP C C T TCGA-IK-8125-01 TCGA-IK-8125-10 Untested Somatic Phase_I WXS none Illumina GAIIx 148 10 ENST00000245907.6:c.305G>A p.Arg102His p.R102H ENST00000245907 NM_000064.2 102 cGc/cAc 0 0.607 GAACTTGTTGCGCCCCTTTTC ZNF878 729747 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 19 12154973 12154973 + stop_gained Nonsense_Mutation SNP G G A TCGA-IK-8125-01 TCGA-IK-8125-10 Untested Somatic Phase_I WXS none Illumina GAIIx 34 13 ENST00000547628.1:c.1243C>T p.Arg415Ter p.R415* ENST00000547628 NM_001080404.2 415 Cga/Tga 0 0.433 GTGTGAGTTCGTATGTGCTTT NOTCH3 4854 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 19 15299837 15299837 + synonymous_variant Silent SNP G G A TCGA-IK-8125-01 TCGA-IK-8125-10 Untested Somatic Phase_I WXS none Illumina GAIIx 32 9 ENST00000263388.2:c.1341C>T p.Leu447= p.L447= ENST00000263388 NM_000435.2 447 ctC/ctT 0 0.667 CTATGCGGTCGAGGCACGTGG TEAD2 8463 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 19 49845721 49845721 + missense_variant Missense_Mutation SNP C C T TCGA-IK-8125-01 TCGA-IK-8125-10 Untested Somatic Phase_I WXS none Illumina GAIIx 35 27 ENST00000598810.1:c.1216G>A p.Val406Ile p.V406I ENST00000598810 NM_001256661.1 406 Gtc/Atc 0 0.572 TTTTCCAGGACGCTGTTCATC U2AF2 11338 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 19 56175034 56175034 + missense_variant Missense_Mutation SNP G G C TCGA-IK-8125-01 TCGA-IK-8125-10 Untested Somatic Phase_I WXS none Illumina GAIIx 106 10 ENST00000308924.4:c.666G>C p.Gln222His p.Q222H ENST00000308924 222 caG/caC 0 0.567 TCCAGGGCCAGTCACTAAAGA PRRC2C 23215 hgsc.bcm.edu;broad.mit.edu GRCh37 1 171511013 171511013 + missense_variant Missense_Mutation SNP C C G TCGA-IK-8125-01 TCGA-IK-8125-10 Untested Somatic Phase_I WXS none Illumina GAIIx 61 5 ENST00000338920.4:c.4402C>G p.Pro1468Ala p.P1468A ENST00000338920 NM_015172.3 1468 Cca/Gca 0 0.428 GGCTCAAGAACCAGTTAATAC BPIFB3 359710 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 20 31659936 31659936 + synonymous_variant Silent SNP C C T TCGA-IK-8125-01 TCGA-IK-8125-10 Untested Somatic Phase_I WXS none Illumina GAIIx 87 15 ENST00000375494.3:c.1287C>T p.Ser429= p.S429= ENST00000375494 NM_182658.1 429 agC/agT 0 0.532 AATGGCTCAGCCATGTGGTCG COL18A1 80781 hgsc.bcm.edu;broad.mit.edu GRCh37 21 46909433 46909433 + missense_variant,splice_region_variant Missense_Mutation SNP A A G TCGA-IK-8125-01 TCGA-IK-8125-10 Untested Somatic Phase_I WXS none Illumina GAIIx 12 10 ENST00000355480.5:c.2497A>G p.Lys833Glu p.K833E ENST00000355480 NM_030582.3 833 Aag/Gag 0 0.706 GCCGGGGGCGAAGGTAAGCGC PARVB 29780 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 22 44489821 44489821 + synonymous_variant Silent SNP G G A TCGA-IK-8125-01 TCGA-IK-8125-10 Untested Somatic Phase_I WXS none Illumina GAIIx 104 49 ENST00000406477.3:c.225G>A p.Gln75= p.Q75= ENST00000406477 NM_001003828.2 75 caG/caA 0 0.547 GTGACCTGCAGGAAGAAGGCA TTN 7273 hgsc.bcm.edu;broad.mit.edu GRCh37 2 179634978 179634978 + missense_variant Missense_Mutation SNP C C G TCGA-IK-8125-01 TCGA-IK-8125-10 Untested Somatic Phase_I WXS none Illumina GAIIx 95 8 ENST00000589042.1:c.8450G>C p.Ser2817Thr p.S2817T ENST00000589042 NM_001267550.1 2817 aGt/aCt 0 0.408 ATGGGAAACACTAACTTCAAA IDH1 3417 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T rs121913500 TCGA-IK-8125-01 TCGA-IK-8125-10 Untested Somatic Phase_I WXS none Illumina GAIIx 65 20 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 0.393 ATAAGCATGACGACCTATGAT NGEF 25791 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 233759484 233759484 + missense_variant Missense_Mutation SNP A A G TCGA-IK-8125-01 TCGA-IK-8125-10 Untested Somatic Phase_I WXS none Illumina GAIIx 82 31 ENST00000264051.3:c.971T>C p.Val324Ala p.V324A ENST00000264051 NM_019850.2 324 gTg/gCg 0 0.602 GACAGCCAGCACGTCCAGGAC FLNB 2317 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 3 58097875 58097875 + splice_acceptor_variant Splice_Site SNP G G A TCGA-IK-8125-01 TCGA-IK-8125-10 Untested Somatic Phase_I WXS none Illumina GAIIx 137 83 ENST00000490882.1:c.2576-1G>A p.X859_splice ENST00000490882 NM_001164317.1 0 0.522 TATCTTTCCAGGTGTGGAAAA CRYBG3 131544 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 3 97596597 97596597 + stop_gained Nonsense_Mutation SNP C C T TCGA-IK-8125-01 TCGA-IK-8125-10 Untested Somatic Phase_I WXS none Illumina GAIIx 22 12 ENST00000182096.4:c.715C>T p.Gln239Ter p.Q239* ENST00000182096 NM_153605.3 239 Cag/Tag 0 0.468 CCCTGATGACCAGGAGAGCGT ENAM 10117 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 4 71508741 71508741 + missense_variant Missense_Mutation SNP C C T TCGA-IK-8125-01 TCGA-IK-8125-10 Untested Somatic Phase_I WXS none Illumina GAIIx 63 32 ENST00000396073.3:c.1598C>T p.Thr533Ile p.T533I ENST00000396073 NM_031889.2 533 aCt/aTt 0 0.413 GAATCAGAAACTAATCAGTCA NAF1 92345 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 4 164050323 164050323 + missense_variant Missense_Mutation SNP T T C TCGA-IK-8125-01 TCGA-IK-8125-10 Untested Somatic Phase_I WXS none Illumina GAIIx 50 10 ENST00000274054.2:c.1211A>G p.Gln404Arg p.Q404R ENST00000274054 NM_138386.2 404 cAg/cGg 0 0.458 TGAAGTCTCCTGAGATACCAT FAT1 2195 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 4 187521295 187521295 + missense_variant Missense_Mutation SNP C C T TCGA-IK-8125-01 TCGA-IK-8125-10 Untested Somatic Phase_I WXS none Illumina GAIIx 46 6 ENST00000441802.2:c.11860G>A p.Gly3954Ser p.G3954S ENST00000441802 NM_005245.3 3954 Ggc/Agc 0 0.483 CGGATGTGGCCACCAAAAAAC MAML1 9794 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 5 179192669 179192669 + missense_variant Missense_Mutation SNP C C T TCGA-IK-8125-01 TCGA-IK-8125-10 Untested Somatic Phase_I WXS none Illumina GAIIx 46 5 ENST00000292599.3:c.658C>T p.Pro220Ser p.P220S ENST00000292599 NM_014757.4 220 Cct/Tct 0 0.517 GAAGCAGGAGCCTGTCGAAGA NOTCH4 4855 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 6 32166813 32166813 + synonymous_variant Silent SNP G G A TCGA-IK-8125-01 TCGA-IK-8125-10 Untested Somatic Phase_I WXS none Illumina GAIIx 46 32 ENST00000375023.3:c.4425C>T p.Arg1475= p.R1475= ENST00000375023 NM_004557.3 1475 cgC/cgT 0 0.677 CATGCTCTCGGCGTCGACGCC NOTCH4 4855 hgsc.bcm.edu;broad.mit.edu GRCh37 6 32190325 32190325 + synonymous_variant Silent SNP C C T TCGA-IK-8125-01 TCGA-IK-8125-10 Untested Somatic Phase_I WXS none Illumina GAIIx 69 8 ENST00000375023.3:c.414G>A p.Ser138= p.S138= ENST00000375023 NM_004557.3 138 tcG/tcA 0 0.647 GTGGGCGGCCCGAGGCCTGGA PNPLA1 285848 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 6 36262065 36262065 + synonymous_variant Silent SNP C C A TCGA-IK-8125-01 TCGA-IK-8125-10 Untested Somatic Phase_I WXS none Illumina GAIIx 138 24 ENST00000394571.2:c.603C>A p.Pro201= p.P201= ENST00000394571 NM_001145717.1 201 ccC/ccA 0 0.607 ACATCTGTCCCCGGGACTGCC PPP2R5D 5528 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 6 42974286 42974286 + missense_variant Missense_Mutation SNP C C T TCGA-IK-8125-01 TCGA-IK-8125-10 Untested Somatic Phase_I WXS none Illumina GAIIx 130 76 ENST00000485511.1:c.191C>T p.Pro64Leu p.P64L ENST00000485511 NM_001270476.1 64 cCg/cTg 0 0.622 AATAGCACGCCGCCCCCCACG TTBK1 84630 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 6 43251409 43251409 + synonymous_variant Silent SNP G G A TCGA-IK-8125-01 TCGA-IK-8125-10 Untested Somatic Phase_I WXS none Illumina GAIIx 32 26 ENST00000259750.4:c.2931G>A p.Ala977= p.A977= ENST00000259750 NM_032538.1 977 gcG/gcA 0 0.697 GGGCCCGAGCGCCCCTGGAGA ZNF292 23036 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 6 87943087 87943087 + missense_variant Missense_Mutation SNP A A G TCGA-IK-8125-01 TCGA-IK-8125-10 Untested Somatic Phase_I WXS none Illumina GAIIx 22 9 ENST00000369577.3:c.583A>G p.Arg195Gly p.R195G ENST00000369577 NM_015021.1 195 Aga/Gga 0 0.308 GTTGGATATGAGAATTAAACA RUNX1T1 862 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 8 92972658 92972658 + missense_variant Missense_Mutation SNP C C G TCGA-IK-8125-01 TCGA-IK-8125-10 Untested Somatic Phase_I WXS none Illumina GAIIx 40 10 ENST00000436581.2:c.1660G>C p.Asp554His p.D554H ENST00000436581 554 Gac/Cac 0 0.567 TTCTCCCAGTCTTTGTGCTGG PLEC 5339 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 8 144995732 144995732 + missense_variant Missense_Mutation SNP C C T TCGA-IK-8125-01 TCGA-IK-8125-10 Untested Somatic Phase_I WXS none Illumina GAIIx 44 30 ENST00000322810.4:c.8668G>A p.Ala2890Thr p.A2890T ENST00000322810 NM_201380.2 2890 Gct/Act 0 0.687 TCCTTCACAGCCTCGTTGACG GNE 10020 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 9 36249251 36249251 + synonymous_variant Silent SNP G G A rs147290887 TCGA-IK-8125-01 TCGA-IK-8125-10 Untested Somatic Phase_I WXS none Illumina GAIIx 65 9 ENST00000396594.3:c.195C>T p.Thr65= p.T65= ENST00000396594 NM_001128227.2 65 acC/acT 0 0.408 ACTCAGGTTCGGTTTTAATGC ALDH1A1 216 hgsc.bcm.edu;ucsc.edu GRCh37 9 75520933 75520933 + synonymous_variant Silent SNP G G A TCGA-IK-8125-01 TCGA-IK-8125-10 Untested Somatic Phase_I WXS none Illumina GAIIx 37 6 ENST00000297785.3:c.1374C>T p.Gly458= p.G458= ENST00000297785 NM_000689.4 458 ggC/ggT 0 0.348 CACTTACCACGCCATAGCAAT FPGS 2356 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 9 130570869 130570869 + synonymous_variant Silent SNP C C G TCGA-IK-8125-01 TCGA-IK-8125-10 Untested Somatic Phase_I WXS none Illumina GAIIx 29 20 ENST00000373247.2:c.855C>G p.Ala285= p.A285= ENST00000373247 NM_004957.4 285 gcC/gcG 0 0.687 TGCTGGAGGCCCTCGAGGAAG NOTCH1 4851 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 9 139412597 139412597 + missense_variant Missense_Mutation SNP C C A TCGA-IK-8125-01 TCGA-IK-8125-10 Untested Somatic Phase_I WXS none Illumina GAIIx 10 9 ENST00000277541.6:c.1247G>T p.Cys416Phe p.C416F ENST00000277541 NM_017617.3 416 tGc/tTc 0 0.672 ACCCAGCGAGCACTCATCCAC FTSJ1 24140 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 48339829 48339829 + missense_variant Missense_Mutation SNP G G T TCGA-IK-8125-01 TCGA-IK-8125-10 Untested Somatic Phase_I WXS none Illumina GAIIx 11 30 ENST00000348411.2:c.484G>T p.Asp162Tyr p.D162Y ENST00000348411 NM_012280.2 162 Gat/Tat 0 0.602 CCGAGGCCGGGATGTGACGCT LHFPL1 340596 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 111914414 111914414 + missense_variant Missense_Mutation SNP G G A TCGA-IK-8125-01 TCGA-IK-8125-10 Untested Somatic Phase_I WXS none Illumina GAIIx 69 36 ENST00000371968.3:c.205C>T p.Arg69Cys p.R69C ENST00000371968 NM_178175.3 69 Cgc/Tgc 0 0.592 CTGGCATAGCGCCCACATTCT NSDHL 50814 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 152037637 152037637 + missense_variant Missense_Mutation SNP C C T TCGA-IK-8125-01 TCGA-IK-8125-10 Untested Somatic Phase_I WXS none Illumina GAIIx 29 11 ENST00000370274.3:c.1099C>T p.Arg367Cys p.R367C ENST00000370274 NM_015922.2 367 Cgc/Tgc 0 0.552 GCAGAGCTTTCGCCACCTGCG ABI3BP 25890 broad.mit.edu;ucsc.edu GRCh37 3 100523693 100523693 + missense_variant Missense_Mutation SNP G G A TCGA-IK-8125-01 TCGA-IK-8125-10 Untested Somatic Phase_I WXS none Illumina GAIIx 40 13 ENST00000284322.5:c.1690C>T p.Arg564Cys p.R564C ENST00000284322 NM_015429.3 564 Cgt/Tgt 0 0.398 GCAGTAACACGCTGGGGCACC CRIP3 401262 broad.mit.edu;ucsc.edu GRCh37 6 43275627 43275627 + missense_variant Missense_Mutation SNP C C T TCGA-IK-8125-01 TCGA-IK-8125-10 Untested Somatic Phase_I WXS none Illumina GAIIx 35 4 ENST00000372569.3:c.146G>A p.Gly49Glu p.G49E ENST00000372569 NM_206922.2 49 gGg/gAg 0 0.607 GTATGGCCTCCCATTGTGCTG KPRP 448834 broad.mit.edu;ucsc.edu GRCh37 1 152733157 152733157 + missense_variant Missense_Mutation SNP G G A TCGA-IK-8125-01 TCGA-IK-8125-10 Untested Somatic Phase_I WXS none Illumina GAIIx 84 13 ENST00000368773.1:c.1093G>A p.Ala365Thr p.A365T ENST00000368773 NM_001025231.1 365 Gcc/Acc 0 0.662 CTCCTGGGGCGCCTCCTGCCC TTC12 54970 broad.mit.edu;ucsc.edu GRCh37 11 113215006 113215006 + missense_variant Missense_Mutation SNP G G A TCGA-IK-8125-01 TCGA-IK-8125-10 Untested Somatic Phase_I WXS none Illumina GAIIx 126 73 ENST00000529221.1:c.998G>A p.Arg333His p.R333H ENST00000529221 NM_017868.3 333 cGt/cAt 0 0.532 GAAAACCAGCGTGTGCTAGTG THSD7B 80731 broad.mit.edu;ucsc.edu GRCh37 2 137814593 137814593 + stop_gained Nonsense_Mutation SNP G G A TCGA-IK-8125-01 TCGA-IK-8125-10 Untested Somatic Phase_I WXS none Illumina GAIIx 59 39 ENST00000272643.3:c.743G>A p.Trp248Ter p.W248* ENST00000272643 248 tGg/tAg 0 0.413 GTTGGACCATGGAGTAAATGC DIXDC1 85458 broad.mit.edu;ucsc.edu GRCh37 11 111835363 111835363 + missense_variant Missense_Mutation SNP C C T TCGA-IK-8125-01 TCGA-IK-8125-10 Untested Somatic Phase_I WXS none Illumina GAIIx 9 7 ENST00000440460.2:c.151C>T p.Arg51Trp p.R51W ENST00000440460 NM_001037954.3 51 Cgg/Tgg 0 0.517 ACAAGATCTCCGGGATGGGGT HFM1 164045 broad.mit.edu;hgsc.bcm.edu GRCh37 1 91781979 91781980 + frameshift_variant Frame_Shift_Ins INS - - T TCGA-IK-8125-01 TCGA-IK-8125-10 Untested Somatic Phase_I WXS none Illumina GAIIx 20 29 ENST00000370425.3:c.2866dupA p.Ile956AsnfsTer10 p.I956Nfs*10 ENST00000370425 NM_001017975.3 956 ata/aAta 0 0.292 TGTCTCTTCTATTTTTTTAAAG KIAA1147 57189 broad.mit.edu;hgsc.bcm.edu GRCh37 7 141362626 141362626 + frameshift_variant Frame_Shift_Del DEL T T - TCGA-IK-8125-01 TCGA-IK-8125-10 Untested Somatic Phase_I WXS none Illumina GAIIx 2 10 ENST00000536163.1:c.1198delA p.Ile400TyrfsTer16 p.I400Yfs*16 ENST00000536163 NM_001080392.1 400 Ata/ta 0 0.502 GTCTGAAATATCCGGTTGTTT CIC 23152 broad.mit.edu;hgsc.bcm.edu GRCh37 19 42797750 42797750 + frameshift_variant Frame_Shift_Del DEL A A - TCGA-IK-8125-01 TCGA-IK-8125-10 Untested Somatic Phase_I WXS none Illumina GAIIx 21 25 ENST00000575354.2:c.3804delA p.Lys1268AsnfsTer34 p.K1268Nfs*34 ENST00000575354 NM_015125.3 1268 Aaa/aa 0 0.637 CCAGGCCAGCAAATTCCCCAG TP53 7157 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 7577545 7577545 + missense_variant Missense_Mutation SNP T T C TCGA-HT-7880-01 TCGA-HT-7880-10 Untested Somatic Phase_I WXS none Illumina GAIIx 91 10 ENST00000269305.4:c.736A>G p.Met246Val p.M246V ENST00000269305 NM_001126112.2 246 Atg/Gtg 0 0.577 CTCCGGTTCATGCCGCCCATG PTPN14 5784 hgsc.bcm.edu;broad.mit.edu GRCh37 1 214557534 214557534 + missense_variant Missense_Mutation SNP G G A TCGA-HT-7880-01 TCGA-HT-7880-10 Untested Somatic Phase_I WXS none Illumina GAIIx 124 10 ENST00000366956.5:c.1664C>T p.Thr555Met p.T555M ENST00000366956 NM_005401.4 555 aCg/aTg 0 0.637 CATGTGGGCCGTGCTGTAGTT IDH1 3417 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T rs121913500 TCGA-HT-7880-01 TCGA-HT-7880-10 Untested Somatic Phase_I WXS none Illumina GAIIx 56 15 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 0.393 ATAAGCATGACGACCTATGAT PKN3 29941 hgsc.bcm.edu;broad.mit.edu GRCh37 9 131475882 131475882 + synonymous_variant Silent SNP G G C TCGA-HT-7880-01 TCGA-HT-7880-10 Untested Somatic Phase_I WXS none Illumina GAIIx 88 6 ENST00000291906.4:c.1197G>C p.Leu399= p.L399= ENST00000291906 NM_013355.3 399 ctG/ctC 0 0.632 GTCACCAACTGTCCCTCAGCC ATRX 546 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 76937900 76937900 + stop_gained Nonsense_Mutation SNP T T A TCGA-HT-7880-01 TCGA-HT-7880-10 Untested Somatic Phase_I WXS none Illumina GAIIx 79 18 ENST00000373344.5:c.2848A>T p.Lys950Ter p.K950* ENST00000373344 NM_000489.3 950 Aaa/Taa 0 0.358 GTTTTGGTTTTGAGATGCTTG ATRX 546 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 76938788 76938788 + synonymous_variant Silent SNP G G T TCGA-HT-7880-01 TCGA-HT-7880-10 Untested Somatic Phase_I WXS none Illumina GAIIx 115 19 ENST00000373344.5:c.1960C>A p.Arg654= p.R654= ENST00000373344 NM_000489.3 654 Cga/Aga 0 0.393 GGGGATCTTCGAAGATCAGAT AFF2 2334 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 148037448 148037448 + missense_variant Missense_Mutation SNP A A G TCGA-HT-7880-01 TCGA-HT-7880-10 Untested Somatic Phase_I WXS none Illumina GAIIx 110 16 ENST00000370460.2:c.1873A>G p.Thr625Ala p.T625A ENST00000370460 NM_002025.3 625 Aca/Gca 0 0.443 GTCTCAAAGGACAATTGGGAA NF1 4763 broad.mit.edu GRCh37 17 29562657 29562660 + frameshift_variant Frame_Shift_Del DEL TGTT TGTT - TCGA-HT-7880-01 TCGA-HT-7880-10 Untested Somatic Phase_I WXS none Illumina GAIIx 226 20 ENST00000358273.4:c.3739_3742delTTTG p.Phe1247IlefsTer18 p.F1247Ifs*18 ENST00000358273 NM_001042492.2 1246 cTGTTt/ct 0 0.412 CTGGTTACTCTGTTTGATTCTCGG NAV2 89797 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 11 19970369 19970369 + synonymous_variant Silent SNP C C T TCGA-HW-A5KK-01 TCGA-HW-A5KK-10 Untested Somatic Phase_I WXS none Illumina GAIIx 78 11 ENST00000396087.3:c.2457C>T p.Asp819= p.D819= ENST00000396087 NM_001244963.1 819 gaC/gaT 0 0.617 AAGCAGGAGACGCCCCCTCAA ADAMTS15 170689 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 11 130332501 130332501 + synonymous_variant Silent SNP C C T TCGA-HW-A5KK-01 TCGA-HW-A5KK-10 Untested Somatic Phase_I WXS none Illumina GAIIx 129 17 ENST00000299164.2:c.1368C>T p.Ser456= p.S456= ENST00000299164 NM_139055.2 456 tcC/tcT 0 0.647 GCGTGGGCTCCAAGCCCTGTC PRB3 5544 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 12 11420209 11420209 + missense_variant Missense_Mutation SNP G G A TCGA-HW-A5KK-01 TCGA-HW-A5KK-10 Untested Somatic Phase_I WXS none Illumina GAIIx 220 36 ENST00000381842.3:c.847C>T p.Pro283Ser p.P283S ENST00000381842 NM_006249.4 283 Ccc/Tcc 0 0.622 TTTCCAGCGGGAGGTGGCAGA MGAT4C 25834 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 12 86374059 86374059 + missense_variant Missense_Mutation SNP G G A TCGA-HW-A5KK-01 TCGA-HW-A5KK-10 Untested Somatic Phase_I WXS none Illumina GAIIx 78 12 ENST00000604798.1:c.445C>T p.Arg149Cys p.R149C ENST00000604798 149 Cgt/Tgt 0 0.398 ATGGCATCACGCCAGGAAGAA SLC13A2 9058 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 26817446 26817446 + missense_variant Missense_Mutation SNP C C T TCGA-HW-A5KK-01 TCGA-HW-A5KK-10 Untested Somatic Phase_I WXS none Illumina GAIIx 264 40 ENST00000444914.3:c.353C>T p.Pro118Leu p.P118L ENST00000444914 NM_001145975.1 118 cCg/cTg 0 0.612 GTCTTCCCGCCGCTCAGCCAT LRRC37B 114659 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 30349672 30349672 + missense_variant Missense_Mutation SNP G G A TCGA-HW-A5KK-01 TCGA-HW-A5KK-10 Untested Somatic Phase_I WXS none Illumina GAIIx 115 23 ENST00000341671.7:c.1507G>A p.Val503Met p.V503M ENST00000341671 NM_052888.2 503 Gtg/Atg 0 0.507 GGATTCATTGGTGCAGTCTGA ZNF521 25925 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 18 22805969 22805969 + missense_variant Missense_Mutation SNP T T G TCGA-HW-A5KK-01 TCGA-HW-A5KK-10 Untested Somatic Phase_I WXS none Illumina GAIIx 147 23 ENST00000361524.3:c.1913A>C p.Gln638Pro p.Q638P ENST00000361524 NM_015461.2 638 cAa/cCa 0 0.478 AGCACCACATTGATTACAGAT ZNF426 79088 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 19 9646905 9646905 + missense_variant Missense_Mutation SNP C C T TCGA-HW-A5KK-01 TCGA-HW-A5KK-10 Untested Somatic Phase_I WXS none Illumina GAIIx 74 11 ENST00000535489.1:c.4G>A p.Ala2Thr p.A2T ENST00000535489 2 Gca/Aca 0 0.463 TCAGCAGCTGCCATCCCGCGA EHD2 30846 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 19 48229108 48229108 + missense_variant Missense_Mutation SNP G G A TCGA-HW-A5KK-01 TCGA-HW-A5KK-10 Untested Somatic Phase_I WXS none Illumina GAIIx 52 10 ENST00000263277.3:c.542G>A p.Arg181His p.R181H ENST00000263277 NM_014601.3 181 cGc/cAc 0 0.637 TTCGCGGAGCGCGTGGACCTC KIAA0754 23499 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 39876726 39876726 + synonymous_variant Silent SNP A A G TCGA-HW-A5KK-01 TCGA-HW-A5KK-10 Untested Somatic Phase_I WXS none Illumina GAIIx 29 10 ENST00000530275.1:c.381A>G p.Thr127= p.T127= ENST00000530275 NM_015038.1 127 acA/acG 0 0.512 CGAGGGCCACAAAAAGTTTAG CEP250 11190 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 20 34059913 34059913 + synonymous_variant Silent SNP T T C TCGA-HW-A5KK-01 TCGA-HW-A5KK-10 Untested Somatic Phase_I WXS none Illumina GAIIx 186 33 ENST00000397527.1:c.987T>C p.Ser329= p.S329= ENST00000397527 NM_007186.3 329 tcT/tcC 0 0.423 ATGAAGCATCTCTTAGTAGGA YTHDF1 54915 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 20 61833842 61833842 + missense_variant Missense_Mutation SNP C C T TCGA-HW-A5KK-01 TCGA-HW-A5KK-10 Untested Somatic Phase_I WXS none Illumina GAIIx 82 15 ENST00000370339.3:c.1450G>A p.Val484Ile p.V484I ENST00000370339 NM_017798.3 484 Gta/Ata 0 0.537 TTATTGGGTACATCCTTAACA VAMP5 10791 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 85818866 85818866 + missense_variant Missense_Mutation SNP C C T TCGA-HW-A5KK-01 TCGA-HW-A5KK-10 Untested Somatic Phase_I WXS none Illumina GAIIx 102 20 ENST00000306384.4:c.22C>T p.Arg8Trp p.R8W ENST00000306384 NM_006634.2 8 Cgg/Tgg 0 0.602 AGAGTTGGAGCGGTGCCAGCA AMER3 205147 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 131521800 131521800 + stop_gained Nonsense_Mutation SNP C C T TCGA-HW-A5KK-01 TCGA-HW-A5KK-10 Untested Somatic Phase_I WXS none Illumina GAIIx 45 12 ENST00000423981.1:c.2155C>T p.Gln719Ter p.Q719* ENST00000423981 NM_001105194.1 719 Cag/Tag 0 0.632 CATGCTGGAGCAGAAACAGTC FN1 2335 hgsc.bcm.edu;ucsc.edu GRCh37 2 216288193 216288193 + missense_variant Missense_Mutation SNP G G C TCGA-HW-A5KK-01 TCGA-HW-A5KK-10 Untested Somatic Phase_I WXS none Illumina GAIIx 55 6 ENST00000354785.4:c.1273C>G p.Leu425Val p.L425V ENST00000354785 425 Cta/Gta 0 0.463 TTGTTGTATAGGAAGGGGAAG RARB 5915 hgsc.bcm.edu;ucsc.edu GRCh37 3 25470378 25470378 + splice_region_variant,synonymous_variant Splice_Region SNP A A G TCGA-HW-A5KK-01 TCGA-HW-A5KK-10 Untested Somatic Phase_I WXS none Illumina GAIIx 40 6 ENST00000330688.4:c.156A>G p.Gln52= p.Q52= ENST00000330688 NM_000965.3 52 caA/caG 0 0.433 ACACTGCTCAATGTAGGTTTA CELSR3 1951 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 3 48678778 48678778 + missense_variant Missense_Mutation SNP G G A TCGA-HW-A5KK-01 TCGA-HW-A5KK-10 Untested Somatic Phase_I WXS none Illumina GAIIx 125 25 ENST00000164024.4:c.9004C>T p.Arg3002Trp p.R3002W ENST00000164024 NM_001407.2 3002 Cgg/Tgg 0 0.652 CGCTGGGCCCGGCCCAGAGAA COPB2 9276 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 3 139085462 139085462 + missense_variant Missense_Mutation SNP G G A TCGA-HW-A5KK-01 TCGA-HW-A5KK-10 Untested Somatic Phase_I WXS none Illumina GAIIx 45 11 ENST00000333188.5:c.1832C>T p.Pro611Leu p.P611L ENST00000333188 NM_004766.2 611 cCt/cTt 0 0.398 TGGAATGGTAGGAAGGACCTT DNAJB14 79982 hgsc.bcm.edu;ucsc.edu GRCh37 4 100822294 100822294 + missense_variant Missense_Mutation SNP T T C TCGA-HW-A5KK-01 TCGA-HW-A5KK-10 Untested Somatic Phase_I WXS none Illumina GAIIx 59 8 ENST00000442697.2:c.1031A>G p.Tyr344Cys p.Y344C ENST00000442697 NM_001278310.1 344 tAt/tGt 0 0.373 TTTTGCTGCATACTGCATATC ABLIM3 22885 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 5 148617131 148617131 + missense_variant Missense_Mutation SNP T T C TCGA-HW-A5KK-01 TCGA-HW-A5KK-10 Untested Somatic Phase_I WXS none Illumina GAIIx 117 29 ENST00000506113.1:c.1009T>C p.Ser337Pro p.S337P ENST00000506113 337 Tcc/Ccc 0 0.522 CAGATACATGTCCGACGAGAT ATP10B 23120 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 5 160049524 160049524 + synonymous_variant Silent SNP G G T TCGA-HW-A5KK-01 TCGA-HW-A5KK-10 Untested Somatic Phase_I WXS none Illumina GAIIx 89 17 ENST00000327245.5:c.1689C>A p.Thr563= p.T563= ENST00000327245 NM_025153.2 563 acC/acA 0 0.488 TGTCTGACAAGGTCTCCAACC PKHD1 5314 hgsc.bcm.edu;ucsc.edu GRCh37 6 51897876 51897876 + missense_variant Missense_Mutation SNP A A T TCGA-HW-A5KK-01 TCGA-HW-A5KK-10 Untested Somatic Phase_I WXS none Illumina GAIIx 56 6 ENST00000371117.3:c.3316T>A p.Leu1106Ile p.L1106I ENST00000371117 NM_138694.3 1106 Tta/Ata 0 0.383 ACTGGATTTAAGGAAGAGACA MAP7 9053 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 6 136710581 136710581 + stop_gained Nonsense_Mutation SNP T T A TCGA-HW-A5KK-01 TCGA-HW-A5KK-10 Untested Somatic Phase_I WXS none Illumina GAIIx 135 25 ENST00000454590.1:c.385A>T p.Lys129Ter p.K129* ENST00000454590 NM_001198614.1 129 Aag/Tag 0 0.542 AACCTCTTCTTCCGCTCTTCC SYNE1 23345 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 6 152651648 152651648 + synonymous_variant Silent SNP C C T TCGA-HW-A5KK-01 TCGA-HW-A5KK-10 Untested Somatic Phase_I WXS none Illumina GAIIx 60 11 ENST00000367255.5:c.14172G>A p.Ala4724= p.A4724= ENST00000367255 NM_182961.3 4724 gcG/gcA 0 0.552 CCCCAAGGCCCGCCACCTCGT CDK13 8621 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 7 40102644 40102644 + missense_variant Missense_Mutation SNP A A G TCGA-HW-A5KK-01 TCGA-HW-A5KK-10 Untested Somatic Phase_I WXS none Illumina GAIIx 73 14 ENST00000181839.4:c.2725A>G p.Thr909Ala p.T909A ENST00000181839 NM_031267.3 909 Act/Gct 0 0.333 CGAACTCTTCACTAAAAAACC POM121L12 285877 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 7 53103839 53103839 + missense_variant Missense_Mutation SNP C C T TCGA-HW-A5KK-01 TCGA-HW-A5KK-10 Untested Somatic Phase_I WXS none Illumina GAIIx 47 11 ENST00000408890.4:c.475C>T p.Arg159Cys p.R159C ENST00000408890 NM_182595.3 159 Cgc/Tgc 0 0.721 ACAGAGAgcccgccccgcagg VDAC3 7419 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 8 42259491 42259491 + missense_variant Missense_Mutation SNP C C T TCGA-HW-A5KK-01 TCGA-HW-A5KK-10 Untested Somatic Phase_I WXS none Illumina GAIIx 57 9 ENST00000521158.1:c.512C>T p.Ala171Val p.A171V ENST00000521158 171 gCc/gTc 0 0.463 AATAATTTCGCCCTGGGTTAC GSDMD 79792 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 8 144642132 144642132 + missense_variant Missense_Mutation SNP C C T TCGA-HW-A5KK-01 TCGA-HW-A5KK-10 Untested Somatic Phase_I WXS none Illumina GAIIx 55 9 ENST00000526406.1:c.403C>T p.His135Tyr p.H135Y ENST00000526406 NM_001166237.1 135 Cat/Tat 0 0.537 GACTCTGCTCCATGAGAGGTG SLC24A2 25769 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 9 19786146 19786146 + missense_variant Missense_Mutation SNP C C G TCGA-HW-A5KK-01 TCGA-HW-A5KK-10 Untested Somatic Phase_I WXS none Illumina GAIIx 86 10 ENST00000341998.2:c.719G>C p.Arg240Pro p.R240P ENST00000341998 NM_001193288.2 240 cGa/cCa 0 0.393 AGACACATCTCGAAAGAGCGG EXTL1 2134 broad.mit.edu;ucsc.edu GRCh37 1 26360306 26360306 + synonymous_variant Silent SNP C C T rs137944707 byFrequency TCGA-HW-A5KK-01 TCGA-HW-A5KK-10 Untested Somatic Phase_I WXS none Illumina GAIIx 78 17 ENST00000374280.3:c.1638C>T p.Asn546= p.N546= ENST00000374280 NM_004455.2 546 aaC/aaT 0 0.597 AGAGGACCAACGAATTCTCCA SPRYD3 84926 broad.mit.edu;ucsc.edu GRCh37 12 53468957 53468957 + missense_variant Missense_Mutation SNP A A C TCGA-HW-A5KK-01 TCGA-HW-A5KK-10 Untested Somatic Phase_I WXS none Illumina GAIIx 173 27 ENST00000301463.4:c.293T>G p.Leu98Arg p.L98R ENST00000301463 NM_032840.2 98 cTg/cGg 0 0.562 CTGAGGGACCAGCCCCACAGC LZTR1 8216 broad.mit.edu;ucsc.edu GRCh37 22 21347144 21347144 + missense_variant Missense_Mutation SNP G G A TCGA-HW-A5KK-01 TCGA-HW-A5KK-10 Untested Somatic Phase_I WXS none Illumina GAIIx 12 3 ENST00000215739.8:c.1211G>A p.Gly404Glu p.G404E ENST00000215739 NM_006767.3 404 gGg/gAg 0 0.652 TACATCTTCGGGGGCACGGTG GSDMD 79792 broad.mit.edu;ucsc.edu GRCh37 8 144645068 144645068 + synonymous_variant Silent SNP C C A TCGA-HW-A5KK-01 TCGA-HW-A5KK-10 Untested Somatic Phase_I WXS none Illumina GAIIx 30 5 ENST00000526406.1:c.1449C>A p.Pro483= p.P483= ENST00000526406 NM_001166237.1 483 ccC/ccA 0 0.667 GCCAGGAGCCCCACTAGCCTG BMPR1B 658 broad.mit.edu;hgsc.bcm.edu GRCh37 4 96046194 96046194 + frameshift_variant Frame_Shift_Del DEL C C - TCGA-HW-A5KK-01 TCGA-HW-A5KK-10 Untested Somatic Phase_I WXS none Illumina GAIIx 50 15 ENST00000440890.2:c.597delC p.Tyr199Ter p.Y199* ENST00000440890 199 taC/ta 0 0.408 ATGAAACTTACATTCCTCCTG FOLH1 2346 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 11 49207240 49207240 + synonymous_variant Silent SNP T T C TCGA-CS-6665-01 TCGA-CS-6665-10 Untested Somatic Phase_I WXS none Illumina GAIIx 33 14 ENST00000256999.2:c.807A>G p.Thr269= p.T269= ENST00000256999 NM_004476.1 269 acA/acG 0 0.428 GGTAACCTGGTGTGAGAGGGT OR5D14 219436 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 11 55563532 55563532 + synonymous_variant Silent SNP G G T TCGA-CS-6665-01 TCGA-CS-6665-10 Untested Somatic Phase_I WXS none Illumina GAIIx 191 37 ENST00000335605.1:c.501G>T p.Arg167= p.R167= ENST00000335605 NM_001004735.1 167 cgG/cgT 0 0.502 ATGCTCTCCGGTTAAACTTCT APOA1 335 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 11 116707048 116707048 + missense_variant Missense_Mutation SNP C C T TCGA-CS-6665-01 TCGA-CS-6665-10 Untested Somatic Phase_I WXS none Illumina GAIIx 88 23 ENST00000236850.4:c.280G>A p.Glu94Lys p.E94K ENST00000236850 NM_000039.1 94 Gag/Aag 0 0.592 TCCCAGAACTCCTGGGTCACA IRAK3 11213 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 12 66638280 66638280 + missense_variant Missense_Mutation SNP T T C TCGA-CS-6665-01 TCGA-CS-6665-10 Untested Somatic Phase_I WXS none Illumina GAIIx 55 18 ENST00000261233.4:c.902T>C p.Leu301Ser p.L301S ENST00000261233 NM_007199.2 301 tTg/tCg 0 0.393 AACATCCTTTTGGATGATCAG KERA 11081 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 12 91449807 91449807 + synonymous_variant Silent SNP T T C TCGA-CS-6665-01 TCGA-CS-6665-10 Untested Somatic Phase_I WXS none Illumina GAIIx 80 13 ENST00000266719.3:c.252A>G p.Glu84= p.E84= ENST00000266719 NM_007035.3 84 gaA/gaG 0 0.348 CAGGAATGGTTTCTATCAGGT TMCC3 57458 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 12 94975589 94975589 + synonymous_variant Silent SNP G G A TCGA-CS-6665-01 TCGA-CS-6665-10 Untested Somatic Phase_I WXS none Illumina GAIIx 107 24 ENST00000261226.4:c.804C>T p.Asn268= p.N268= ENST00000261226 NM_020698.2 268 aaC/aaT 0 0.592 ACTGGTTTCCGTTACTGTCGG ATP8A2 51761 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 13 26411309 26411309 + synonymous_variant Silent SNP C C A TCGA-CS-6665-01 TCGA-CS-6665-10 Untested Somatic Phase_I WXS none Illumina GAIIx 121 61 ENST00000381655.2:c.2763C>A p.Thr921= p.T921= ENST00000381655 NM_016529.4 921 acC/acA 0 0.498 AGATTTTCACCGCTTTGCCGC MYO16 23026 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 13 109318372 109318372 + missense_variant Missense_Mutation SNP G G A TCGA-CS-6665-01 TCGA-CS-6665-10 Untested Somatic Phase_I WXS none Illumina GAIIx 45 14 ENST00000356711.2:c.101G>A p.Arg34His p.R34H ENST00000356711 NM_015011.1 34 cGc/cAc 0 0.527 TACTATGAGCGCGAGAAGGCT CASC5 57082 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 15 40914116 40914116 + missense_variant Missense_Mutation SNP T T C TCGA-CS-6665-01 TCGA-CS-6665-10 Untested Somatic Phase_I WXS none Illumina GAIIx 50 10 ENST00000346991.5:c.1732T>C p.Ser578Pro p.S578P ENST00000346991 578 Tca/Cca 0 0.358 GCAGAGCCTGTCAAATCCTTT TUBGCP4 27229 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 15 43695930 43695930 + missense_variant Missense_Mutation SNP C C T rs149549954 by1000genomes TCGA-CS-6665-01 TCGA-CS-6665-10 Untested Somatic Phase_I WXS none Illumina GAIIx 21 23 ENST00000564079.1:c.1781C>T p.Ser594Leu p.S594L ENST00000564079 NM_014444.2 594 tCg/tTg 0 0.527 AGTTTTTGTTCGCTGGTCAGT AP4E1 23431 hgsc.bcm.edu;broad.mit.edu GRCh37 15 51260560 51260560 + missense_variant Missense_Mutation SNP T T G TCGA-CS-6665-01 TCGA-CS-6665-10 Untested Somatic Phase_I WXS none Illumina GAIIx 15 6 ENST00000261842.5:c.1952T>G p.Leu651Arg p.L651R ENST00000261842 NM_001252127.1 651 cTt/cGt 0 0.373 GAGGAAAAGCTTTCTCAGGAA ACSM1 116285 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 16 20635526 20635526 + synonymous_variant Silent SNP G G A TCGA-CS-6665-01 TCGA-CS-6665-10 Untested Somatic Phase_I WXS none Illumina GAIIx 79 22 ENST00000307493.4:c.1539C>T p.Ala513= p.A513= ENST00000307493 NM_052956.2 513 gcC/gcT 0 0.473 GGACAATAAAGGCCTTCACCA DNAH2 146754 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 7643864 7643864 + synonymous_variant Silent SNP C C T TCGA-CS-6665-01 TCGA-CS-6665-10 Untested Somatic Phase_I WXS none Illumina GAIIx 129 20 ENST00000572933.1:c.1503C>T p.Arg501= p.R501= ENST00000572933 501 cgC/cgT 0 0.672 TTGCCTCCCGCGAGGTGCGGC DNAJC7 7266 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 40140910 40140910 + missense_variant Missense_Mutation SNP G G A TCGA-CS-6665-01 TCGA-CS-6665-10 Untested Somatic Phase_I WXS none Illumina GAIIx 96 51 ENST00000457167.4:c.758C>T p.Ala253Val p.A253V ENST00000457167 NM_003315.3 253 gCc/gTc 0 0.423 GAGTGCTTTGGCATTCTACAG CSHL1 1444 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 61987091 61987091 + missense_variant Missense_Mutation SNP C C T TCGA-CS-6665-01 TCGA-CS-6665-10 Untested Somatic Phase_I WXS none Illumina GAIIx 73 42 ENST00000309894.5:c.649G>A p.Glu217Lys p.E217K ENST00000309894 NM_022579.1 217 Gag/Aag 0 0.632 CAGCTGCCCTCCACAGAGCGG LGALS3BP 3959 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 76967757 76967757 + synonymous_variant Silent SNP C C T TCGA-CS-6665-01 TCGA-CS-6665-10 Untested Somatic Phase_I WXS none Illumina GAIIx 55 25 ENST00000262776.3:c.1659G>A p.Ser553= p.S553= ENST00000262776 NM_005567.3 553 tcG/tcA 0 0.612 AGGTGCTCTTCGAGCTGTTGG LAMA3 3909 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 18 21489195 21489195 + missense_variant Missense_Mutation SNP A A G TCGA-CS-6665-01 TCGA-CS-6665-10 Untested Somatic Phase_I WXS none Illumina GAIIx 73 13 ENST00000313654.9:c.7094A>G p.Asn2365Ser p.N2365S ENST00000313654 NM_198129.1 2365 aAc/aGc 0 0.453 CCCTTGGGAAACATCTCTGAC TRAPPC8 22878 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 18 29433858 29433858 + missense_variant Missense_Mutation SNP G G C TCGA-CS-6665-01 TCGA-CS-6665-10 Untested Somatic Phase_I WXS none Illumina GAIIx 42 10 ENST00000283351.4:c.3387C>G p.Ser1129Arg p.S1129R ENST00000283351 NM_014939.3 1129 agC/agG 0 0.328 TCCAGTGTTTGCTACTACTTG S1PR2 9294 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 19 10334891 10334891 + synonymous_variant Silent SNP G G A TCGA-CS-6665-01 TCGA-CS-6665-10 Untested Somatic Phase_I WXS none Illumina GAIIx 36 15 ENST00000590320.1:c.691C>T p.Leu231= p.L231= ENST00000590320 NM_004230.3 231 Ctg/Ttg 0 0.617 GTCTTGAGCAGGGCTAGCGTC ZNF585B 92285 hgsc.bcm.edu;broad.mit.edu GRCh37 19 37676803 37676803 + missense_variant Missense_Mutation SNP C C T TCGA-CS-6665-01 TCGA-CS-6665-10 Untested Somatic Phase_I WXS none Illumina GAIIx 109 18 ENST00000532828.2:c.1636G>A p.Gly546Arg p.G546R ENST00000532828 NM_152279.3 546 Gga/Aga 0 0.383 TGTCTCTCTCCAGTGTGAATT FCGBP 8857 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 19 40368357 40368357 + missense_variant Missense_Mutation SNP C C T TCGA-CS-6665-01 TCGA-CS-6665-10 Untested Somatic Phase_I WXS none Illumina GAIIx 293 32 ENST00000221347.6:c.12991G>A p.Ala4331Thr p.A4331T ENST00000221347 NM_003890.2 4331 Gcc/Acc 0 0.647 GCCTGGCAGGCGGCCACGTAG AJAP1 55966 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 4832380 4832380 + missense_variant Missense_Mutation SNP C C T TCGA-CS-6665-01 TCGA-CS-6665-10 Untested Somatic Phase_I WXS none Illumina GAIIx 69 11 ENST00000378191.4:c.958C>T p.Arg320Trp p.R320W ENST00000378191 NM_018836.3 320 Cgg/Tgg 0 0.607 CAGCCACCAGCGGAAGACCAA CLSTN1 22883 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 9794036 9794036 + missense_variant Missense_Mutation SNP A A C TCGA-CS-6665-01 TCGA-CS-6665-10 Untested Somatic Phase_I WXS none Illumina GAIIx 97 19 ENST00000377298.4:c.2275T>G p.Phe759Val p.F759V ENST00000377298 NM_001009566.1 759 Ttc/Gtc 0 0.612 TTACCTGTGAAGGTCATGCCC SPRR2G 6706 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 153122438 153122438 + missense_variant Missense_Mutation SNP G G A TCGA-CS-6665-01 TCGA-CS-6665-10 Untested Somatic Phase_I WXS none Illumina GAIIx 120 23 ENST00000368748.4:c.149C>T p.Pro50Leu p.P50L ENST00000368748 NM_001014291.3 50 cCa/cTa 0 0.567 ATCCTGGCATGGTGGAGGTGG CD244 51744 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 160811431 160811431 + stop_gained Nonsense_Mutation SNP C C A TCGA-CS-6665-01 TCGA-CS-6665-10 Untested Somatic Phase_I WXS none Illumina GAIIx 102 26 ENST00000368033.3:c.322G>T p.Glu108Ter p.E108* ENST00000368033 108 Gag/Tag 0 0.453 CTGGTGACCTCCAGGCAGTAG RXRG 6258 hgsc.bcm.edu;broad.mit.edu GRCh37 1 165398112 165398112 + missense_variant Missense_Mutation SNP A A C TCGA-CS-6665-01 TCGA-CS-6665-10 Untested Somatic Phase_I WXS none Illumina GAIIx 66 5 ENST00000359842.5:c.141T>G p.Asp47Glu p.D47E ENST00000359842 NM_001256570.1 47 gaT/gaG 0 0.607 TCACTGGGGTATCTGTGTAGC SELE 6401 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 169697059 169697059 + missense_variant Missense_Mutation SNP C C T TCGA-CS-6665-01 TCGA-CS-6665-10 Untested Somatic Phase_I WXS none Illumina GAIIx 137 34 ENST00000333360.7:c.1289G>A p.Cys430Tyr p.C430Y ENST00000333360 NM_000450.2 430 tGc/tAc 0 0.498 GACAGCATCGCATCTCACAGC EDEM3 80267 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 184695449 184695449 + synonymous_variant Silent SNP T T C TCGA-CS-6665-01 TCGA-CS-6665-10 Untested Somatic Phase_I WXS none Illumina GAIIx 61 15 ENST00000318130.8:c.687A>G p.Ala229= p.A229= ENST00000318130 NM_025191.3 229 gcA/gcG 0 0.388 TCAAGGTACCTGCACAAGCTG GPR137B 7107 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 236341829 236341829 + stop_gained Nonsense_Mutation SNP C C T TCGA-CS-6665-01 TCGA-CS-6665-10 Untested Somatic Phase_I WXS none Illumina GAIIx 180 58 ENST00000366592.3:c.580C>T p.Arg194Ter p.R194* ENST00000366592 NM_003272.3 194 Cga/Tga 0 0.478 CGTCTCTGTGCGAGTGGCCAT RYR2 6262 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 237804239 237804239 + missense_variant Missense_Mutation SNP C C G TCGA-CS-6665-01 TCGA-CS-6665-10 Untested Somatic Phase_I WXS none Illumina GAIIx 50 8 ENST00000366574.2:c.7158C>G p.Asn2386Lys p.N2386K ENST00000366574 NM_001035.2 2386 aaC/aaG 0 0.443 ACATGGGGAACGCGATCATGA BCL11A 53335 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 60679728 60679728 + downstream_gene_variant 3'Flank SNP C C T TCGA-CS-6665-01 TCGA-CS-6665-10 Untested Somatic Phase_I WXS none Illumina GAIIx 119 38 ENST00000335712 NM_022893.3 0 0.557 TAAGGGCTCTCGAGCTTCCAT RND3 390 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 151326607 151326607 + missense_variant Missense_Mutation SNP G G A TCGA-CS-6665-01 TCGA-CS-6665-10 Untested Somatic Phase_I WXS none Illumina GAIIx 125 34 ENST00000375734.2:c.629C>T p.Ser210Leu p.S210L ENST00000375734 NM_001254738.1 210 tCa/tTa 0 0.458 GGCTCTCTGTGATTTGTTCCG IDH1 3417 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T rs121913500 TCGA-CS-6665-01 TCGA-CS-6665-10 Untested Somatic Phase_I WXS none Illumina GAIIx 74 18 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 0.393 ATAAGCATGACGACCTATGAT BSN 8927 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 3 49691512 49691512 + missense_variant Missense_Mutation SNP C C T TCGA-CS-6665-01 TCGA-CS-6665-10 Untested Somatic Phase_I WXS none Illumina GAIIx 72 11 ENST00000296452.4:c.4523C>T p.Thr1508Met p.T1508M ENST00000296452 NM_003458.3 1508 aCg/aTg 0 0.622 TCTACACAGACGCCAAGTCCA BSN 8927 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 3 49694614 49694614 + missense_variant Missense_Mutation SNP C C T TCGA-CS-6665-01 TCGA-CS-6665-10 Untested Somatic Phase_I WXS none Illumina GAIIx 41 14 ENST00000296452.4:c.7625C>T p.Thr2542Met p.T2542M ENST00000296452 NM_003458.3 2542 aCg/aTg 0 0.632 TCACTGCAAACGGAGGAGCAG CACNA2D3 55799 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 3 54596855 54596855 + missense_variant Missense_Mutation SNP G G T TCGA-CS-6665-01 TCGA-CS-6665-10 Untested Somatic Phase_I WXS none Illumina GAIIx 40 10 ENST00000474759.1:c.573G>T p.Trp191Cys p.W191C ENST00000474759 NM_018398.2 191 tgG/tgT 0 0.403 GGGTTTATTGGTCTGAATCTC SEL1L3 23231 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 4 25849135 25849135 + missense_variant Missense_Mutation SNP T T C TCGA-CS-6665-01 TCGA-CS-6665-10 Untested Somatic Phase_I WXS none Illumina GAIIx 73 9 ENST00000399878.3:c.514A>G p.Ile172Val p.I172V ENST00000399878 NM_015187.3 172 Ata/Gta 0 0.408 GCGCGTACTATCACTGCAGAT SHROOM3 57619 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 4 77661578 77661578 + missense_variant Missense_Mutation SNP C C T TCGA-CS-6665-01 TCGA-CS-6665-10 Untested Somatic Phase_I WXS none Illumina GAIIx 33 5 ENST00000296043.6:c.2252C>T p.Pro751Leu p.P751L ENST00000296043 NM_020859.3 751 cCg/cTg 0 0.692 CCCTCGCACCCGCACACATCC FRAS1 80144 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 4 79400621 79400621 + missense_variant Missense_Mutation SNP T T G TCGA-CS-6665-01 TCGA-CS-6665-10 Untested Somatic Phase_I WXS none Illumina GAIIx 41 15 ENST00000264895.6:c.8192T>G p.Phe2731Cys p.F2731C ENST00000264895 NM_025074.6 2731 tTt/tGt 0 0.463 GGCTCTGATTTTAAATCTAGA USP53 54532 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 4 120214081 120214081 + missense_variant Missense_Mutation SNP T T A TCGA-CS-6665-01 TCGA-CS-6665-10 Untested Somatic Phase_I WXS none Illumina GAIIx 50 9 ENST00000450251.1:c.2937T>A p.Asp979Glu p.D979E ENST00000450251 979 gaT/gaA 0 0.393 ATATGAATGATGAAAGACATA PRDM5 11107 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 4 121698363 121698363 + missense_variant Missense_Mutation SNP A A C TCGA-CS-6665-01 TCGA-CS-6665-10 Untested Somatic Phase_I WXS none Illumina GAIIx 155 35 ENST00000264808.3:c.1517T>G p.Val506Gly p.V506G ENST00000264808 NM_018699.2 506 gTt/gGt 0 0.383 CCGGATATGAACTCTGAGTGT GMDS 2762 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 6 1726688 1726688 + missense_variant Missense_Mutation SNP C C T TCGA-CS-6665-01 TCGA-CS-6665-10 Untested Somatic Phase_I WXS none Illumina GAIIx 194 37 ENST00000380815.4:c.949G>A p.Val317Met p.V317M ENST00000380815 NM_001500.3 317 Gtg/Atg 0 0.507 TCCACAGTCACGTGAACTTTG GPR116 221395 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 6 46826760 46826760 + synonymous_variant Silent SNP C C T TCGA-CS-6665-01 TCGA-CS-6665-10 Untested Somatic Phase_I WXS none Illumina GAIIx 114 16 ENST00000283296.7:c.2880G>A p.Arg960= p.R960= ENST00000283296 NM_001098518.1 960 agG/agA 0 0.478 TGTTGGCAAGCCTGAAGTTCC NT5E 4907 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 6 86203685 86203685 + missense_variant Missense_Mutation SNP T T C TCGA-CS-6665-01 TCGA-CS-6665-10 Untested Somatic Phase_I WXS none Illumina GAIIx 103 14 ENST00000257770.3:c.1688T>C p.Leu563Pro p.L563P ENST00000257770 NM_002526.3 563 cTt/cCt 0 0.353 TTAATATTTCTTTCACTTTGG RNGTT 8732 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 6 89563379 89563379 + missense_variant Missense_Mutation SNP C C T TCGA-CS-6665-01 TCGA-CS-6665-10 Untested Somatic Phase_I WXS none Illumina GAIIx 108 13 ENST00000369485.4:c.1001G>A p.Arg334His p.R334H ENST00000369485 NM_003800.3 334 cGt/cAt 0 0.289 TAAATGCATACGAAGATCTTT TMEM200A 114801 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 6 130761742 130761742 + missense_variant Missense_Mutation SNP T T C TCGA-CS-6665-01 TCGA-CS-6665-10 Untested Somatic Phase_I WXS none Illumina GAIIx 93 61 ENST00000392429.1:c.175T>C p.Ser59Pro p.S59P ENST00000392429 NM_052913.2 59 Tcc/Ccc 0 0.478 CCGGCTTTATTCCCCATCTGG FOXP2 93986 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 7 114282537 114282537 + missense_variant Missense_Mutation SNP G G A TCGA-CS-6665-01 TCGA-CS-6665-10 Untested Somatic Phase_I WXS none Illumina GAIIx 61 35 ENST00000408937.3:c.923G>A p.Gly308Asp p.G308D ENST00000408937 NM_014491.3 308 gGc/gAc 0 0.428 GAAGACAATGGCATTAAACAT WNT2 7472 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 7 116960776 116960776 + missense_variant Missense_Mutation SNP C C T TCGA-CS-6665-01 TCGA-CS-6665-10 Untested Somatic Phase_I WXS none Illumina GAIIx 37 10 ENST00000265441.3:c.155G>A p.Arg52Gln p.R52Q ENST00000265441 NM_003391.2 52 cGg/cAg 0 0.597 ACACAGCTGCCGCTGGCTGCT AKR1B10 57016 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 7 134212705 134212705 + synonymous_variant Silent SNP C C T TCGA-CS-6665-01 TCGA-CS-6665-10 Untested Somatic Phase_I WXS none Illumina GAIIx 97 19 ENST00000359579.4:c.42C>T p.Pro14= p.P14= ENST00000359579 NM_020299.4 14 ccC/ccT 0 0.502 CCAAGATGCCCATTGTGGGCC POLR3D 661 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 8 22107627 22107627 + missense_variant Missense_Mutation SNP C C A TCGA-CS-6665-01 TCGA-CS-6665-10 Untested Somatic Phase_I WXS none Illumina GAIIx 59 36 ENST00000397802.4:c.961C>A p.Leu321Met p.L321M ENST00000397802 321 Ctg/Atg 0 0.542 CCTGGCTGACCTGACAGAGGG DOCK5 80005 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 8 25154057 25154057 + missense_variant Missense_Mutation SNP G G C TCGA-CS-6665-01 TCGA-CS-6665-10 Untested Somatic Phase_I WXS none Illumina GAIIx 20 4 ENST00000276440.7:c.499G>C p.Asp167His p.D167H ENST00000276440 NM_024940.6 167 Gat/Cat 0 0.512 GGTGGTGCGAGATGACAATGG NRG1 3084 hgsc.bcm.edu;ucsc.edu GRCh37 8 32600199 32600199 + synonymous_variant Silent SNP A A T TCGA-CS-6665-01 TCGA-CS-6665-10 Untested Somatic Phase_I WXS none Illumina GAIIx 205 39 ENST00000356819.4:c.639A>T p.Pro213= p.P213= ENST00000356819 NM_013956.3 213 ccA/ccT 0 0.423 TCAGGTGCCCAAATGAGTTTA ANK1 286 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 8 41543690 41543690 + missense_variant Missense_Mutation SNP C C T rs138642972 byFrequency TCGA-CS-6665-01 TCGA-CS-6665-10 Untested Somatic Phase_I WXS none Illumina GAIIx 81 29 ENST00000265709.8:c.4493G>A p.Arg1498His p.R1498H ENST00000265709 NM_001142446.1 1498 cGt/cAt 0 0.522 TTGGCCTTCACGGATGACCCA CLVS1 157807 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 8 62371030 62371030 + synonymous_variant Silent SNP C C T TCGA-CS-6665-01 TCGA-CS-6665-10 Untested Somatic Phase_I WXS none Illumina GAIIx 55 24 ENST00000519846.1:c.906C>T p.Ser302= p.S302= ENST00000519846 302 tcC/tcT 0 0.502 CTCACACATCCTATAATGCAA COL5A1 1289 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 9 137591840 137591840 + synonymous_variant Silent SNP C C T TCGA-CS-6665-01 TCGA-CS-6665-10 Untested Somatic Phase_I WXS none Illumina GAIIx 131 29 ENST00000371817.3:c.363C>T p.Asn121= p.N121= ENST00000371817 NM_001278074.1 121 aaC/aaT 0 0.587 CCATCTACAACGAGCAGGGTA GYG2 8908 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 2799186 2799186 + missense_variant Missense_Mutation SNP C C T TCGA-CS-6665-01 TCGA-CS-6665-10 Untested Somatic Phase_I WXS none Illumina GAIIx 32 7 ENST00000381163.3:c.1438C>T p.Arg480Cys p.R480C ENST00000381163 NM_001079855.1 480 Cgt/Tgt 0 0.572 GGAGGAAGGCCGTATCGACTA PRPS2 5634 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 12838861 12838861 + missense_variant Missense_Mutation SNP C C T TCGA-CS-6665-01 TCGA-CS-6665-10 Untested Somatic Phase_I WXS none Illumina GAIIx 76 19 ENST00000398491.2:c.812C>T p.Ala271Val p.A271V ENST00000398491 271 gCt/gTt 0 0.483 GCCTTTGAGGCTGTTGTCGTC RS1 6247 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 18660177 18660177 + missense_variant Missense_Mutation SNP C C T TCGA-CS-6665-01 TCGA-CS-6665-10 Untested Somatic Phase_I WXS none Illumina GAIIx 70 28 ENST00000379984.3:c.622G>A p.Val208Ile p.V208I ENST00000379984 NM_000330.3 208 Gtc/Atc 0 0.657 GCAATGCGGACGTGCCAGCCC POLA1 5422 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 24830876 24830876 + synonymous_variant Silent SNP G G A TCGA-CS-6665-01 TCGA-CS-6665-10 Untested Somatic Phase_I WXS none Illumina GAIIx 50 24 ENST00000379059.3:c.3174G>A p.Leu1058= p.L1058= ENST00000379059 NM_016937.3 1058 ctG/ctA 0 0.393 ACGCTGCTCTGGTTGTTGAGC FAM47B 170062 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 34962025 34962025 + synonymous_variant Silent SNP C C T TCGA-CS-6665-01 TCGA-CS-6665-10 Untested Somatic Phase_I WXS none Illumina GAIIx 60 21 ENST00000329357.5:c.1077C>T p.Asp359= p.D359= ENST00000329357 NM_152631.2 359 gaC/gaT 0 0.537 AGCTGGAAGACGCACGGGCTC FAM120C 54954 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 54209051 54209051 + missense_variant Missense_Mutation SNP G G A TCGA-CS-6665-01 TCGA-CS-6665-10 Untested Somatic Phase_I WXS none Illumina GAIIx 17 7 ENST00000375180.2:c.581C>T p.Ala194Val p.A194V ENST00000375180 NM_017848.4 194 gCg/gTg 0 0.721 GATCAGTTGCGCTGTCTGCCG USP51 158880 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 55514135 55514135 + missense_variant Missense_Mutation SNP G G A TCGA-CS-6665-01 TCGA-CS-6665-10 Untested Somatic Phase_I WXS none Illumina GAIIx 48 15 ENST00000500968.3:c.1238C>T p.Ser413Leu p.S413L ENST00000500968 NM_201286.3 413 tCg/tTg 0 0.438 ATGAAAAAGCGAAGACATTTC KIAA2022 340533 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 73963361 73963361 + missense_variant Missense_Mutation SNP G G T TCGA-CS-6665-01 TCGA-CS-6665-10 Untested Somatic Phase_I WXS none Illumina GAIIx 72 17 ENST00000055682.6:c.1031C>A p.Thr344Asn p.T344N ENST00000055682 NM_001008537.2 344 aCc/aAc 0 0.463 CTTGGGGCAGGTAGTAAAGAC AMMECR1 9949 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 109459855 109459855 + missense_variant Missense_Mutation SNP A A G TCGA-CS-6665-01 TCGA-CS-6665-10 Untested Somatic Phase_I WXS none Illumina GAIIx 101 21 ENST00000262844.5:c.590T>C p.Leu197Pro p.L197P ENST00000262844 NM_015365.2 197 cTt/cCt 0 0.378 GCTATCTTTAAGGGCACTGTT CFP 5199 broad.mit.edu;ucsc.edu GRCh37 X 47487019 47487019 + missense_variant Missense_Mutation SNP C C A TCGA-CS-6665-01 TCGA-CS-6665-10 Untested Somatic Phase_I WXS none Illumina GAIIx 17 7 ENST00000247153.3:c.425G>T p.Trp142Leu p.W142L ENST00000247153 NM_002621.2 142 tGg/tTg 0 0.632 CCAGGGCCCCCAGCCAGACCA OBSCN 84033 broad.mit.edu;ucsc.edu GRCh37 1 228404888 228404888 + missense_variant Missense_Mutation SNP C C T TCGA-CS-6665-01 TCGA-CS-6665-10 Untested Somatic Phase_I WXS none Illumina GAIIx 113 15 ENST00000570156.2:c.2552C>T p.Thr851Met p.T851M ENST00000570156 NM_001271223.2 851 aCg/aTg 0 0.652 GATGTGGGGACGCGGCACCGG ZDBF2 57683 broad.mit.edu;ucsc.edu GRCh37 2 207169761 207169761 + missense_variant Missense_Mutation SNP C C T TCGA-CS-6665-01 TCGA-CS-6665-10 Untested Somatic Phase_I WXS none Illumina GAIIx 37 9 ENST00000374423.3:c.509C>T p.Ala170Val p.A170V ENST00000374423 NM_020923.1 170 gCt/gTt 0 0.423 ATTGGTCAGGCTACAAATAAT SP100 6672 broad.mit.edu;ucsc.edu GRCh37 2 231367785 231367785 + synonymous_variant Silent SNP A A G TCGA-CS-6665-01 TCGA-CS-6665-10 Untested Somatic Phase_I WXS none Illumina GAIIx 92 18 ENST00000340126.4:c.1725A>G p.Arg575= p.R575= ENST00000340126 NM_001080391.1 575 agA/agG 0 0.289 TCTCAGGAAGAAAAGCCAACA SERPINB11 89778 broad.mit.edu;ucsc.edu GRCh37 18 61387343 61387343 + missense_variant Missense_Mutation SNP A A T TCGA-CS-6665-01 TCGA-CS-6665-10 Untested Somatic Phase_I WXS none Illumina GAIIx 33 8 ENST00000544088.1:c.572A>T p.Lys191Ile p.K191I ENST00000544088 NM_080475.2 191 aAa/aTa 0 0.348 TGGCAAAATAAATTTCAAGTA SELENOF 9403 broad.mit.edu;ucsc.edu GRCh37 1 87369113 87369113 + stop_gained Nonsense_Mutation SNP C C A TCGA-CS-6665-01 TCGA-CS-6665-10 Untested Somatic Phase_I WXS none Illumina GAIIx 20 12 ENST00000331835.5:c.94G>T p.Glu32Ter p.E32* ENST00000331835 NM_004261.3 32 Gag/Tag 0 0.418 GATGAAAACTCTGCCCCAAAA OR9G1 390174 broad.mit.edu;ucsc.edu GRCh37 11 56468417 56468417 + missense_variant Missense_Mutation SNP A A G TCGA-CS-6665-01 TCGA-CS-6665-10 Untested Somatic Phase_I WXS none Illumina GAIIx 130 29 ENST00000312153.1:c.554A>G p.Glu185Gly p.E185G ENST00000312153 NM_001005213.1 185 gAg/gGg 0 0.463 CCCTTGGTGGAGCTGGCCTGT ADAMTS18 170692 broad.mit.edu;ucsc.edu GRCh37 16 77401350 77401350 + stop_gained Nonsense_Mutation SNP G G A TCGA-CS-6665-01 TCGA-CS-6665-10 Untested Somatic Phase_I WXS none Illumina GAIIx 78 20 ENST00000282849.5:c.766C>T p.Arg256Ter p.R256* ENST00000282849 NM_199355.2 256 Cga/Tga 0 0.443 TTCTTGCGTCGTCCACAAAAA PCSK2 5126 broad.mit.edu;ucsc.edu GRCh37 20 17446133 17446133 + missense_variant Missense_Mutation SNP G G T TCGA-CS-6665-01 TCGA-CS-6665-10 Untested Somatic Phase_I WXS none Illumina GAIIx 48 6 ENST00000262545.2:c.1365G>T p.Met455Ile p.M455I ENST00000262545 NM_002594.3 455 atG/atT 0 0.567 TGGTGAAAATGGCTAAAGACT CISH 1154 broad.mit.edu;ucsc.edu GRCh37 3 50645154 50645154 + missense_variant Missense_Mutation SNP G G A TCGA-CS-6665-01 TCGA-CS-6665-10 Untested Somatic Phase_I WXS none Illumina GAIIx 104 23 ENST00000443053.2:c.712C>T p.Arg238Cys p.R238C ENST00000443053 NM_013324.5 238 Cgc/Tgc 0 0.622 TGCAGGCTGCGGGCACTGCTT HTR1E 3354 broad.mit.edu;ucsc.edu GRCh37 6 87725427 87725427 + synonymous_variant Silent SNP C C A TCGA-CS-6665-01 TCGA-CS-6665-10 Untested Somatic Phase_I WXS none Illumina GAIIx 129 18 ENST00000305344.5:c.375C>A p.Thr125= p.T125= ENST00000305344 NM_000865.2 125 acC/acA 0 0.562 GGGCCATCACCAATGCTATTG TNXB 7148 broad.mit.edu;ucsc.edu GRCh37 6 32049264 32049264 + upstream_gene_variant 5'Flank SNP G G A TCGA-CS-6665-01 TCGA-CS-6665-10 Untested Somatic Phase_I WXS none Illumina GAIIx 19 4 ENST00000516703 0 0.617 CTCATCCCCCGCAACAGGCAC TP53 7157 broad.mit.edu;hgsc.bcm.edu GRCh37 17 7577105 7577105 + frameshift_variant Frame_Shift_Del DEL G G - TCGA-CS-6665-01 TCGA-CS-6665-10 Untested Somatic Phase_I WXS none Illumina GAIIx 13 38 ENST00000269305.4:c.833delC p.Pro278LeufsTer67 p.P278Lfs*67 ENST00000269305 NM_001126112.2 278 cCt/ct 0 0.552 GTCTCTCCCAGGACAGGCACA EMILIN2 84034 broad.mit.edu;hgsc.bcm.edu GRCh37 18 2891806 2891806 + frameshift_variant Frame_Shift_Del DEL C C - TCGA-CS-6665-01 TCGA-CS-6665-10 Untested Somatic Phase_I WXS none Illumina GAIIx 62 23 ENST00000254528.3:c.1682delC p.Pro561LeufsTer23 p.P561Lfs*23 ENST00000254528 NM_032048.2 561 Cct/ct 0 0.502 CCAGGGAAAGCCTCATGGGAT CYTH4 27128 broad.mit.edu;hgsc.bcm.edu GRCh37 22 37705324 37705326 + inframe_deletion In_Frame_Del DEL CTT CTT - TCGA-CS-6665-01 TCGA-CS-6665-10 Untested Somatic Phase_I WXS none Illumina GAIIx 80 45 ENST00000248901.6:c.772_774delTTC p.Phe258del p.F258del ENST00000248901 NM_013385.3 256 acCTTc/acc 0 0.567 TCACTCACACCTTCTTCAATCCA AK7 122481 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 14 96944967 96944967 + missense_variant Missense_Mutation SNP T T C TCGA-HT-7686-01 TCGA-HT-7686-10 Untested Somatic Phase_I WXS none Illumina GAIIx 60 43 ENST00000267584.4:c.1721T>C p.Phe574Ser p.F574S ENST00000267584 NM_152327.3 574 tTt/tCt 0 0.478 TTCAACTATTTTGATGAACTT TP53 7157 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 7577120 7577120 + missense_variant Missense_Mutation SNP C C T rs28934576 by1000genomes TCGA-HT-7686-01 TCGA-HT-7686-10 Untested Somatic Phase_I WXS none Illumina GAIIx 4 14 ENST00000269305.4:c.818G>A p.Arg273His p.R273H ENST00000269305 NM_001126112.2 273 cGt/cAt 0 0.542 GGCACAAACACGCACCTCAAA MYH2 4620 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 10429940 10429940 + missense_variant Missense_Mutation SNP C C T TCGA-HT-7686-01 TCGA-HT-7686-10 Untested Somatic Phase_I WXS none Illumina GAIIx 195 61 ENST00000245503.5:c.4163G>A p.Arg1388His p.R1388H ENST00000245503 NM_017534.5 1388 cGc/cAc 0 0.512 CTCCTCTGTGCGCTGGATGGC TUBG1 7283 hgsc.bcm.edu;broad.mit.edu GRCh37 17 40767042 40767042 + missense_variant Missense_Mutation SNP G G A TCGA-HT-7686-01 TCGA-HT-7686-10 Untested Somatic Phase_I WXS none Illumina GAIIx 42 4 ENST00000251413.3:c.1339G>A p.Gly447Ser p.G447S ENST00000251413 NM_001070.4 447 Ggc/Agc 0 0.582 CATCTCCTGGGGCACCCAGGA PRDM16 63976 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 3342279 3342279 + missense_variant Missense_Mutation SNP G G A TCGA-HT-7686-01 TCGA-HT-7686-10 Untested Somatic Phase_I WXS none Illumina GAIIx 156 16 ENST00000270722.5:c.3074G>A p.Arg1025Gln p.R1025Q ENST00000270722 1025 cGg/cAg 0 0.662 AACCTGGACCGGCACCTCAAG SLC16A4 9122 hgsc.bcm.edu;ucsc.edu GRCh37 1 110921952 110921952 + missense_variant Missense_Mutation SNP C C T rs35157487 byFrequency TCGA-HT-7686-01 TCGA-HT-7686-10 Untested Somatic Phase_I WXS none Illumina GAIIx 45 16 ENST00000369779.4:c.553G>A p.Ala185Thr p.A185T ENST00000369779 NM_001201547.1 185 Gca/Aca 0 0.378 AAATTCAATGCGATAGCTCCA IDH1 3417 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T rs121913500 TCGA-HT-7686-01 TCGA-HT-7686-10 Untested Somatic Phase_I WXS none Illumina GAIIx 63 38 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 0.393 ATAAGCATGACGACCTATGAT PLCH1 23007 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 3 155200712 155200712 + missense_variant Missense_Mutation SNP T T C TCGA-HT-7686-01 TCGA-HT-7686-10 Untested Somatic Phase_I WXS none Illumina GAIIx 69 41 ENST00000340059.7:c.3127A>G p.Ile1043Val p.I1043V ENST00000340059 NM_001130960.1 1043 Att/Gtt 0 0.458 GTAGATACAATGGTGTCCCCT ANXA10 11199 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 4 169105805 169105805 + synonymous_variant Silent SNP T T C TCGA-HT-7686-01 TCGA-HT-7686-10 Untested Somatic Phase_I WXS none Illumina GAIIx 96 57 ENST00000359299.3:c.879T>C p.Tyr293= p.Y293= ENST00000359299 NM_007193.4 293 taT/taC 0 0.353 AAGAGCGATATGGAAAATCCC PRDM9 56979 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 5 23526872 23526872 + missense_variant Missense_Mutation SNP C C T TCGA-HT-7686-01 TCGA-HT-7686-10 Untested Somatic Phase_I WXS none Illumina GAIIx 92 31 ENST00000296682.3:c.1675C>T p.Arg559Trp p.R559W ENST00000296682 NM_020227.2 559 Cgg/Tgg 0 0.527 GGAGTGTGGGCGGGGCTTTAG HCN1 348980 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 5 45262356 45262356 + synonymous_variant Silent SNP G G T TCGA-HT-7686-01 TCGA-HT-7686-10 Untested Somatic Phase_I WXS none Illumina GAIIx 42 21 ENST00000303230.4:c.2340C>A p.Thr780= p.T780= ENST00000303230 NM_021072.3 780 acC/acA 0 0.632 TGACTTCCCGGGTCAGGTTGG DHX29 54505 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 5 54577281 54577281 + synonymous_variant Silent SNP G G C TCGA-HT-7686-01 TCGA-HT-7686-10 Untested Somatic Phase_I WXS none Illumina GAIIx 65 40 ENST00000251636.5:c.2028C>G p.Leu676= p.L676= ENST00000251636 NM_019030.2 676 ctC/ctG 0 0.393 TTGTACAATAGAGTAACCTGG UNC5CL 222643 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 6 40996311 40996311 + missense_variant Missense_Mutation SNP G G T TCGA-HT-7686-01 TCGA-HT-7686-10 Untested Somatic Phase_I WXS none Illumina GAIIx 79 34 ENST00000244565.3:c.1358C>A p.Pro453His p.P453H ENST00000244565 NM_173561.2 453 cCc/cAc 0 0.672 GGCCGCTGCGGGGCTGCGCTG ADAM28 10863 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 8 24201057 24201057 + synonymous_variant Silent SNP A A G TCGA-HT-7686-01 TCGA-HT-7686-10 Untested Somatic Phase_I WXS none Illumina GAIIx 66 34 ENST00000265769.4:c.1950A>G p.Gly650= p.G650= ENST00000265769 NM_014265.4 650 ggA/ggG 0 0.498 GTGAGGAAGGATGGATCCCTC PKHD1L1 93035 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 8 110408325 110408325 + missense_variant Missense_Mutation SNP T T C TCGA-HT-7686-01 TCGA-HT-7686-10 Untested Somatic Phase_I WXS none Illumina GAIIx 16 12 ENST00000378402.5:c.881T>C p.Phe294Ser p.F294S ENST00000378402 NM_177531.4 294 tTc/tCc 0 0.403 AGTGGGCGTTTCTTTGATCAG EPPK1 83481 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 8 144941387 144941387 + missense_variant Missense_Mutation SNP G G T TCGA-HT-7686-01 TCGA-HT-7686-10 Untested Somatic Phase_I WXS none Illumina GAIIx 22 15 ENST00000525985.1:c.6035C>A p.Ala2012Asp p.A2012D ENST00000525985 NM_031308.2 2012 gCc/gAc 0 0.627 ACCCCCCGTGGCCACCTGCAC CCNB3 85417 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 50055581 50055581 + missense_variant Missense_Mutation SNP T T A TCGA-HT-7686-01 TCGA-HT-7686-10 Untested Somatic Phase_I WXS none Illumina GAIIx 156 23 ENST00000376042.1:c.3372T>A p.Ser1124Arg p.S1124R ENST00000376042 1124 agT/agA 0 0.383 GTGATCCAAGTTTCAACCCAA UBAP1 51271 broad.mit.edu;ucsc.edu GRCh37 9 34250662 34250662 + missense_variant Missense_Mutation SNP G G T TCGA-HT-7686-01 TCGA-HT-7686-10 Untested Somatic Phase_I WXS none Illumina GAIIx 35 19 ENST00000545103.1:c.1465G>T p.Asp489Tyr p.D489Y ENST00000545103 NM_001171201.1 489 Gac/Tac 0 0.468 TTAGATTCTCGACTATCTCTT ATRX 546 broad.mit.edu;hgsc.bcm.edu GRCh37 X 76920224 76920224 + frameshift_variant Frame_Shift_Del DEL A A - TCGA-HT-7686-01 TCGA-HT-7686-10 Untested Somatic Phase_I WXS none Illumina GAIIx 50 13 ENST00000373344.5:c.3853delT p.Ser1285ProfsTer61 p.S1285Pfs*61 ENST00000373344 NM_000489.3 1285 Tcc/cc 0 0.373 TCATCAGAGGAAAGATTGGCT MPP7 143098 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 10 28345529 28345529 + synonymous_variant Silent SNP T T C TCGA-HW-8319-01 TCGA-HW-8319-10 Untested Somatic Phase_I WXS none Illumina GAIIx 49 50 ENST00000337532.5:c.1431A>G p.Leu477= p.L477= ENST00000337532 NM_173496.3 477 ctA/ctG 0 0.333 GCTTAAATTCTAGTGTCCTTA OR52I2 143502 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 11 4608789 4608789 + missense_variant Missense_Mutation SNP C C G TCGA-HW-8319-01 TCGA-HW-8319-10 Untested Somatic Phase_I WXS none Illumina GAIIx 46 64 ENST00000312614.4:c.747C>G p.Ile249Met p.I249M ENST00000312614 NM_001005170.2 249 atC/atG 0 0.488 CCTCCTATATCTTAATTCTCA OR51L1 119682 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 11 5021019 5021019 + synonymous_variant Silent SNP T T C TCGA-HW-8319-01 TCGA-HW-8319-10 Untested Somatic Phase_I WXS none Illumina GAIIx 34 5 ENST00000321543.1:c.807T>C p.His269= p.H269= ENST00000321543 NM_001004755.1 269 caT/caC 0 0.463 TTGGGAAGCATCTGTCTCCCA MRGPRX3 117195 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 11 18159642 18159642 + missense_variant Missense_Mutation SNP C C T TCGA-HW-8319-01 TCGA-HW-8319-10 Untested Somatic Phase_I WXS none Illumina GAIIx 11 28 ENST00000396275.2:c.893C>T p.Thr298Met p.T298M ENST00000396275 NM_054031.3 298 aCg/aTg 0 0.562 CTGCAGGACACGCCTGAGGTG OR9G4 283189 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 11 56510829 56510829 + synonymous_variant Silent SNP G G A rs149257582 TCGA-HW-8319-01 TCGA-HW-8319-10 Untested Somatic Phase_I WXS none Illumina GAIIx 191 15 ENST00000302957.3:c.459C>T p.Thr153= p.T153= ENST00000302957 NM_001005284.1 153 acC/acT 0 0.478 TACAGAGGGCGGTGGACATGG PTGR2 145482 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 14 74347933 74347933 + missense_variant Missense_Mutation SNP A A G TCGA-HW-8319-01 TCGA-HW-8319-10 Untested Somatic Phase_I WXS none Illumina GAIIx 66 51 ENST00000555661.1:c.877A>G p.Lys293Glu p.K293E ENST00000555661 293 Aaa/Gaa 0 0.358 ATTAAATTATAAAGACAAATT ISLR 3671 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 15 74467824 74467824 + missense_variant Missense_Mutation SNP G G A TCGA-HW-8319-01 TCGA-HW-8319-10 Untested Somatic Phase_I WXS none Illumina GAIIx 52 14 ENST00000249842.3:c.625G>A p.Ala209Thr p.A209T ENST00000249842 NM_005545.3 209 Gcc/Acc 0 0.652 GGACAACATCGCCTGCACCTC CRAMP1L 57585 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 16 1706072 1706072 + synonymous_variant Silent SNP C C T TCGA-HW-8319-01 TCGA-HW-8319-10 Untested Somatic Phase_I WXS none Illumina GAIIx 16 10 ENST00000397412.3:c.1314C>T p.Asp438= p.D438= ENST00000397412 438 gaC/gaT 0 0.706 GTGCCAAGGACGCCCACGTGC TP53 7157 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 7577538 7577538 + missense_variant Missense_Mutation SNP C C T rs11540652 TCGA-HW-8319-01 TCGA-HW-8319-10 Untested Somatic Phase_I WXS none Illumina GAIIx 41 26 ENST00000269305.4:c.743G>A p.Arg248Gln p.R248Q ENST00000269305 NM_001126112.2 248 cGg/cAg 0 0.572 GATGGGCCTCCGGTTCATGCC TP53 7157 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 7578263 7578263 + stop_gained Nonsense_Mutation SNP G G A TCGA-HW-8319-01 TCGA-HW-8319-10 Untested Somatic Phase_I WXS none Illumina GAIIx 22 25 ENST00000269305.4:c.586C>T p.Arg196Ter p.R196* ENST00000269305 NM_001126112.2 196 Cga/Tga 0 0.552 CCTTCCACTCGGATAAGATGC ZC3H4 23211 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 19 47570840 47570840 + synonymous_variant Silent SNP G G A TCGA-HW-8319-01 TCGA-HW-8319-10 Untested Somatic Phase_I WXS none Illumina GAIIx 19 13 ENST00000253048.5:c.2685C>T p.Ala895= p.A895= ENST00000253048 NM_015168.1 895 gcC/gcT 0 0.701 AGGTGGGCAGGGCGCGAGCCA HIVEP3 59269 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 41978828 41978828 + missense_variant Missense_Mutation SNP C C T TCGA-HW-8319-01 TCGA-HW-8319-10 Untested Somatic Phase_I WXS none Illumina GAIIx 39 31 ENST00000372583.1:c.6064G>A p.Gly2022Ser p.G2022S ENST00000372583 NM_024503.4 2022 Ggc/Agc 0 0.632 GGGAGAGCGCCCATGCCCCTT CD1E 913 hgsc.bcm.edu;ucsc.edu GRCh37 1 158325319 158325319 + synonymous_variant Silent SNP G G A TCGA-HW-8319-01 TCGA-HW-8319-10 Untested Somatic Phase_I WXS none Illumina GAIIx 33 4 ENST00000368167.3:c.585G>A p.Ala195= p.A195= ENST00000368167 NM_030893.3 195 gcG/gcA 0 0.478 GATTTCTAGCGGGGCTCATGG OR2T1 26696 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 248570030 248570030 + synonymous_variant Silent SNP C C T rs148427102 TCGA-HW-8319-01 TCGA-HW-8319-10 Untested Somatic Phase_I WXS none Illumina GAIIx 49 36 ENST00000366474.1:c.735C>T p.Tyr245= p.Y245= ENST00000366474 NM_030904.1 245 taC/taT 0 0.493 CAGCCCTCTACGAGACAGTGA MYH7B 57644 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 20 33581234 33581234 + missense_variant Missense_Mutation SNP G G A TCGA-HW-8319-01 TCGA-HW-8319-10 Untested Somatic Phase_I WXS none Illumina GAIIx 19 14 ENST00000262873.7:c.2531G>A p.Arg844His p.R844H ENST00000262873 NM_020884.3 844 cGc/cAc 0 0.672 AGCCGTGGCCGCCTCATGCGC DGCR2 9993 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 22 19026633 19026633 + splice_region_variant,synonymous_variant Splice_Region SNP G G A rs146027196 TCGA-HW-8319-01 TCGA-HW-8319-10 Untested Somatic Phase_I WXS none Illumina GAIIx 33 14 ENST00000263196.7:c.1398C>T p.Asp466= p.D466= ENST00000263196 NM_001184781.1 466 gaC/gaT 0 0.622 AAGCATCATCGTCTGCAGGAA APOB 338 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 21226157 21226157 + missense_variant Missense_Mutation SNP C C T rs149273387 TCGA-HW-8319-01 TCGA-HW-8319-10 Untested Somatic Phase_I WXS none Illumina GAIIx 242 122 ENST00000233242.1:c.12137G>A p.Arg4046Gln p.R4046Q ENST00000233242 NM_000384.2 4046 cGg/cAg 0 0.408 ATCAGATTCCCGGACCCTCAA SCN2A 6326 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 166211024 166211024 + missense_variant Missense_Mutation SNP G G C TCGA-HW-8319-01 TCGA-HW-8319-10 Untested Somatic Phase_I WXS none Illumina GAIIx 52 30 ENST00000357398.3:c.3242G>C p.Ser1081Thr p.S1081T ENST00000357398 1081 aGt/aCt 0 0.388 ATAGGCAGCAGTGTAGAAAAA IDH1 3417 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T rs121913500 TCGA-HW-8319-01 TCGA-HW-8319-10 Untested Somatic Phase_I WXS none Illumina GAIIx 50 28 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 0.393 ATAAGCATGACGACCTATGAT ANKRD28 23243 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 3 15719776 15719776 + missense_variant Missense_Mutation SNP C C T TCGA-HW-8319-01 TCGA-HW-8319-10 Untested Somatic Phase_I WXS none Illumina GAIIx 17 17 ENST00000399451.2:c.2557G>A p.Asp853Asn p.D853N ENST00000399451 NM_015199.3 853 Gac/Aac 0 0.398 CCTGTAGAGTCCACAGAATTG SATB1 6304 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 3 18435971 18435971 + missense_variant Missense_Mutation SNP C C A TCGA-HW-8319-01 TCGA-HW-8319-10 Untested Somatic Phase_I WXS none Illumina GAIIx 104 47 ENST00000417717.2:c.1189G>T p.Ala397Ser p.A397S ENST00000417717 NM_001195470.1 397 Gct/Tct 0 0.433 CTGTTAAAAGCCACACGTGCA SLC4A7 9497 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 3 27439832 27439832 + missense_variant Missense_Mutation SNP G G C TCGA-HW-8319-01 TCGA-HW-8319-10 Untested Somatic Phase_I WXS none Illumina GAIIx 48 50 ENST00000295736.5:c.2413C>G p.Leu805Val p.L805V ENST00000295736 NM_003615.4 805 Ctt/Gtt 0 0.363 ACACCACGAAGTTTTTTACAT MYH15 22989 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 3 108195254 108195254 + missense_variant Missense_Mutation SNP G G A TCGA-HW-8319-01 TCGA-HW-8319-10 Untested Somatic Phase_I WXS none Illumina GAIIx 26 28 ENST00000273353.3:c.1283C>T p.Thr428Ile p.T428I ENST00000273353 NM_014981.1 428 aCt/aTt 0 0.338 CTGTTCTATAGTTTGACCTCT HCN1 348980 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 5 45262407 45262407 + synonymous_variant Silent SNP C C T TCGA-HW-8319-01 TCGA-HW-8319-10 Untested Somatic Phase_I WXS none Illumina GAIIx 35 33 ENST00000303230.4:c.2289G>A p.Pro763= p.P763= ENST00000303230 NM_021072.3 763 ccG/ccA 0 0.652 CTTCATTTTTCGGCGTGGAGC ERAP2 64167 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 5 96215430 96215430 + missense_variant Missense_Mutation SNP C C T TCGA-HW-8319-01 TCGA-HW-8319-10 Untested Somatic Phase_I WXS none Illumina GAIIx 92 8 ENST00000437043.3:c.41C>T p.Pro14Leu p.P14L ENST00000437043 NM_001130140.1 14 cCa/cTa 0 0.373 CACAGAAAACCAATGTTTAAC LIMK1 3984 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 7 73511062 73511062 + missense_variant Missense_Mutation SNP C C G TCGA-HW-8319-01 TCGA-HW-8319-10 Untested Somatic Phase_I WXS none Illumina GAIIx 40 18 ENST00000336180.2:c.263C>G p.Ser88Cys p.S88C ENST00000336180 NM_002314.3 88 tCt/tGt 0 0.597 CATGGGTGCTCTGAGCAAATC LRRCC1 85444 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 8 86021973 86021973 + missense_variant Missense_Mutation SNP T T G TCGA-HW-8319-01 TCGA-HW-8319-10 Untested Somatic Phase_I WXS none Illumina GAIIx 12 9 ENST00000360375.3:c.248T>G p.Leu83Arg p.L83R ENST00000360375 NM_033402.4 83 cTa/cGa 0 0.323 ATTGAAGGACTAAACACACTG RASEF 158158 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 9 85607825 85607825 + missense_variant Missense_Mutation SNP G G C TCGA-HW-8319-01 TCGA-HW-8319-10 Untested Somatic Phase_I WXS none Illumina GAIIx 184 82 ENST00000376447.3:c.2036C>G p.Ala679Gly p.A679G ENST00000376447 NM_152573.3 679 gCc/gGc 0 0.473 TCTTACCATGGCCAGTTTCTC ZNF189 7743 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 9 104170609 104170609 + missense_variant Missense_Mutation SNP C C T TCGA-HW-8319-01 TCGA-HW-8319-10 Untested Somatic Phase_I WXS none Illumina GAIIx 112 37 ENST00000339664.2:c.559C>T p.Arg187Cys p.R187C ENST00000339664 NM_001278240.1 187 Cgc/Tgc 0 0.413 AAGTTTTAGTCGCAGTTCATT CAMSAP1 157922 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 9 138713009 138713009 + synonymous_variant Silent SNP G G A TCGA-HW-8319-01 TCGA-HW-8319-10 Untested Somatic Phase_I WXS none Illumina GAIIx 112 107 ENST00000389532.4:c.3498C>T p.Phe1166= p.F1166= ENST00000389532 NM_015447.3 1166 ttC/ttT 0 0.567 TGTAACTGTCGAAGAGACACT PBDC1 51260 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 75396760 75396760 + missense_variant Missense_Mutation SNP C C G TCGA-HW-8319-01 TCGA-HW-8319-10 Untested Somatic Phase_I WXS none Illumina GAIIx 88 34 ENST00000373358.3:c.342C>G p.Asp114Glu p.D114E ENST00000373358 NM_016500.3 114 gaC/gaG 0 0.423 TTGTTGAAGACTTCAACTATG ATRX 546 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 76940431 76940431 + missense_variant,splice_region_variant Missense_Mutation SNP C C T TCGA-HW-8319-01 TCGA-HW-8319-10 Untested Somatic Phase_I WXS none Illumina GAIIx 71 36 ENST00000373344.5:c.662G>A p.Arg221Lys p.R221K ENST00000373344 NM_000489.3 221 aGg/aAg 0 0.328 TATTACCTACCTACATTGTTC PLS3 5358 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 114882253 114882253 + missense_variant Missense_Mutation SNP T T G TCGA-HW-8319-01 TCGA-HW-8319-10 Untested Somatic Phase_I WXS none Illumina GAIIx 108 66 ENST00000420625.2:c.1676T>G p.Ile559Ser p.I559S ENST00000420625 NM_001136025.3 559 aTt/aGt 0 0.403 GTGGATTTAATTGATGCCATC ZNF275 10838 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 152612569 152612569 + synonymous_variant Silent SNP G G A TCGA-HW-8319-01 TCGA-HW-8319-10 Untested Somatic Phase_I WXS none Illumina GAIIx 19 19 ENST00000370251.3:c.426G>A p.Ala142= p.A142= ENST00000370251 NM_001080485.3 142 gcG/gcA 0 0.607 GGGGGGTGGCGGAGTTTAATG CANT1 124583 broad.mit.edu;ucsc.edu GRCh37 17 76991172 76991172 + missense_variant Missense_Mutation SNP C C T TCGA-HW-8319-01 TCGA-HW-8319-10 Untested Somatic Phase_I WXS none Illumina GAIIx 3 3 ENST00000302345.2:c.763G>A p.Gly255Ser p.G255S ENST00000302345 NM_001159773.1 255 Ggc/Agc 0 0.652 TCCACGCTGCCCTTGTAGCCC AKAP5 9495 broad.mit.edu;hgsc.bcm.edu GRCh37 14 64936370 64936374 + frameshift_variant Frame_Shift_Del DEL AATAA AATAA - TCGA-HW-8319-01 TCGA-HW-8319-10 Untested Somatic Phase_I WXS none Illumina GAIIx 86 21 ENST00000394718.4:c.1264_1268delATAAA p.Ile422GlnfsTer18 p.I422Qfs*18 ENST00000394718 NM_004857.3 420 AATAAa/a 0 0.341 CTCTGATGATAATAAAATAAACAAT FAM186B 84070 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 12 49992644 49992644 + missense_variant Missense_Mutation SNP A A G rs140386687 byFrequency TCGA-DB-5280-01 TCGA-DB-5280-10 Untested Somatic Phase_I WXS none Illumina GAIIx 79 66 ENST00000257894.2:c.2258T>C p.Ile753Thr p.I753T ENST00000257894 NM_032130.2 753 aTt/aCt 0 0.537 CAGGCGGTCAATGTTTTCCAG VRK1 7443 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 14 97321577 97321577 + missense_variant Missense_Mutation SNP A A G TCGA-DB-5280-01 TCGA-DB-5280-10 Untested Somatic Phase_I WXS none Illumina GAIIx 106 78 ENST00000216639.3:c.593A>G p.Tyr198Cys p.Y198C ENST00000216639 NM_003384.2 198 tAt/tGt 0 0.393 TTGGTAGATTATGGCCTTGCT TNFAIP2 7127 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 14 103599762 103599762 + missense_variant Missense_Mutation SNP C C T TCGA-DB-5280-01 TCGA-DB-5280-10 Untested Somatic Phase_I WXS none Illumina GAIIx 59 43 ENST00000560869.1:c.1609C>T p.Arg537Cys p.R537C ENST00000560869 537 Cgc/Tgc 0 0.622 CAGCAAGGGGCGCCTGGTCCT TAT 6898 hgsc.bcm.edu;broad.mit.edu GRCh37 16 71602180 71602180 + missense_variant Missense_Mutation SNP T T C TCGA-DB-5280-01 TCGA-DB-5280-10 Untested Somatic Phase_I WXS none Illumina GAIIx 63 3 ENST00000355962.4:c.1232A>G p.Glu411Gly p.E411G ENST00000355962 NM_000353.2 411 gAg/gGg 0 0.502 ATTCGGGTACTCAAAGCACTG TP53 7157 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 7577120 7577120 + missense_variant Missense_Mutation SNP C C T rs28934576 by1000genomes TCGA-DB-5280-01 TCGA-DB-5280-10 Untested Somatic Phase_I WXS none Illumina GAIIx 31 30 ENST00000269305.4:c.818G>A p.Arg273His p.R273H ENST00000269305 NM_001126112.2 273 cGt/cAt 0 0.542 GGCACAAACACGCACCTCAAA TP53 7157 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 7578466 7578466 + missense_variant Missense_Mutation SNP G G T TCGA-DB-5280-01 TCGA-DB-5280-10 Untested Somatic Phase_I WXS none Illumina GAIIx 47 49 ENST00000269305.4:c.464C>A p.Thr155Asn p.T155N ENST00000269305 NM_001126112.2 155 aCc/aAc 0 0.612 GCGGACGCGGGTGCCGGGCGG DSG4 147409 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 18 28983444 28983444 + missense_variant Missense_Mutation SNP C C T TCGA-DB-5280-01 TCGA-DB-5280-10 Untested Somatic Phase_I WXS none Illumina GAIIx 34 28 ENST00000359747.4:c.1483C>T p.Pro495Ser p.P495S ENST00000359747 NM_001134453.1 495 Cca/Tca 0 0.383 TGATTATTGTCCAAACATTTT NUMBL 9253 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 19 41183289 41183289 + missense_variant Missense_Mutation SNP G G C TCGA-DB-5280-01 TCGA-DB-5280-10 Untested Somatic Phase_I WXS none Illumina GAIIx 27 18 ENST00000252891.4:c.578C>G p.Ala193Gly p.A193G ENST00000252891 NM_004756.3 193 gCc/gGc 0 0.697 CAGGCAGGCGGCAAAAGCACA ITPKC 80271 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 19 41223412 41223412 + synonymous_variant Silent SNP A A C TCGA-DB-5280-01 TCGA-DB-5280-10 Untested Somatic Phase_I WXS none Illumina GAIIx 80 42 ENST00000263370.2:c.372A>C p.Leu124= p.L124= ENST00000263370 NM_025194.2 124 ctA/ctC 0 0.607 GGACGCATCTAGAATGGAGCT LILRA2 11027 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 19 55086405 55086405 + missense_variant Missense_Mutation SNP C C T rs74454618 TCGA-DB-5280-01 TCGA-DB-5280-10 Untested Somatic Phase_I WXS none Illumina GAIIx 109 99 ENST00000251377.3:c.560C>T p.Pro187Leu p.P187L ENST00000251377 187 cCg/cTg 0 0.587 CCCGTGAGCCCGAGTCGCAGG MYOM3 127294 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 24419503 24419503 + missense_variant Missense_Mutation SNP G G A TCGA-DB-5280-01 TCGA-DB-5280-10 Untested Somatic Phase_I WXS none Illumina GAIIx 20 19 ENST00000374434.3:c.1024C>T p.Leu342Phe p.L342F ENST00000374434 NM_152372.3 342 Ctc/Ttc 0 0.637 ACCATGTAGAGCCCCTCGTCC ZCCHC11 23318 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 52889613 52889613 + synonymous_variant Silent SNP C C T TCGA-DB-5280-01 TCGA-DB-5280-10 Untested Somatic Phase_I WXS none Illumina GAIIx 19 16 ENST00000257177.4:c.4932G>A p.Ser1644= p.S1644= ENST00000257177 1644 tcG/tcA 0 0.507 CGCATTACTCCGACACGTTTC FCRL3 115352 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 157665373 157665373 + missense_variant Missense_Mutation SNP G G T TCGA-DB-5280-01 TCGA-DB-5280-10 Untested Somatic Phase_I WXS none Illumina GAIIx 47 24 ENST00000368184.3:c.1157C>A p.Thr386Asn p.T386N ENST00000368184 NM_052939.3 386 aCc/aAc 0 0.557 AGCCCTGAAGGTGAGGACAGG FMO1 2326 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 171254528 171254528 + missense_variant Missense_Mutation SNP G G A TCGA-DB-5280-01 TCGA-DB-5280-10 Untested Somatic Phase_I WXS none Illumina GAIIx 69 41 ENST00000354841.4:c.1444G>A p.Glu482Lys p.E482K ENST00000354841 NM_001282692.1 482 Gaa/Aaa 0 0.502 AGGAAAATGGGAAGGAGCCAG IDH1 3417 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T rs121913500 TCGA-DB-5280-01 TCGA-DB-5280-10 Untested Somatic Phase_I WXS none Illumina GAIIx 66 40 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 0.393 ATAAGCATGACGACCTATGAT IL17RC 84818 hgsc.bcm.edu;broad.mit.edu GRCh37 3 9959040 9959040 + missense_variant Missense_Mutation SNP G G A rs112532783 byFrequency TCGA-DB-5280-01 TCGA-DB-5280-10 Untested Somatic Phase_I WXS none Illumina GAIIx 91 6 ENST00000295981.3:c.41G>A p.Arg14Gln p.R14Q ENST00000295981 NM_153461.3 14 cGa/cAa 0 0.657 GCACTGGGCCGAAGCCCAGTG HMGN3 9324 hgsc.bcm.edu;ucsc.edu GRCh37 6 79944270 79944270 + missense_variant Missense_Mutation SNP T T G TCGA-DB-5280-01 TCGA-DB-5280-10 Untested Somatic Phase_I WXS none Illumina GAIIx 178 17 ENST00000344726.5:c.8A>C p.Lys3Thr p.K3T ENST00000344726 NM_004242.3 3 aAg/aCg 0 0.502 TACCTTTCTCTTCGGCATAAT LINGO2 158038 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 9 27950110 27950110 + missense_variant Missense_Mutation SNP C C T TCGA-DB-5280-01 TCGA-DB-5280-10 Untested Somatic Phase_I WXS none Illumina GAIIx 65 45 ENST00000379992.2:c.560G>A p.Cys187Tyr p.C187Y ENST00000379992 NM_152570.2 187 tGc/tAc 0 0.483 TGTTAAGTTGCATTTCTCCAG MYO10 4651 broad.mit.edu;ucsc.edu GRCh37 5 16694555 16694555 + missense_variant Missense_Mutation SNP C C T TCGA-DB-5280-01 TCGA-DB-5280-10 Untested Somatic Phase_I WXS none Illumina GAIIx 179 24 ENST00000513610.1:c.3725G>A p.Arg1242His p.R1242H ENST00000513610 NM_012334.2 1242 cGc/cAc 0 0.567 CTTGGACTGGCGGAGGACAAA LACC1 144811 broad.mit.edu;hgsc.bcm.edu GRCh37 13 44455647 44455647 + frameshift_variant Frame_Shift_Del DEL G G - TCGA-DB-5280-01 TCGA-DB-5280-10 Untested Somatic Phase_I WXS none Illumina GAIIx 97 51 ENST00000441843.1:c.527delG p.Gly176GlufsTer3 p.G176Efs*3 ENST00000441843 NM_001128303.1 176 Gga/ga 0 0.328 AGCACTGAGAGGAAAATTAAC ATRX 546 broad.mit.edu;hgsc.bcm.edu GRCh37 X 76938749 76938765 + frameshift_variant Frame_Shift_Del DEL GTCGCCTCAAGGGTGTA GTCGCCTCAAGGGTGTA - TCGA-DB-5280-01 TCGA-DB-5280-10 Untested Somatic Phase_I WXS none Illumina GAIIx 92 90 ENST00000373344.5:c.1983_1999delTACACCCTTGAGGCGAC p.Thr662AspfsTer4 p.T662Dfs*4 ENST00000373344 NM_000489.3 661 acTACACCCTTGAGGCGACcg/accg 0 0.373 GTTTCTGTCGGTCGCCTCAAGGGTGTAGTCTTTACAC ATRX 546 hgsc.bcm.edu GRCh37 X 76938765 76938765 + synonymous_variant Silent SNP A A G TCGA-DB-5280-01 TCGA-DB-5280-10 Untested Somatic Phase_I WXS none Illumina GAIIx 48 6 ENST00000373344.5:c.1983T>C p.Thr661= p.T661= ENST00000373344 NM_000489.3 661 acT/acC 0 0.383 TCAAGGGTGTAGTCTTTACAC RET 5979 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 10 43609023 43609023 + synonymous_variant Silent SNP A A G TCGA-E1-5322-01 TCGA-E1-5322-10 Untested Somatic Phase_I WXS none Illumina GAIIx 21 8 ENST00000355710.3:c.1779A>G p.Gly593= p.G593= ENST00000355710 NM_020975.4 593 ggA/ggG 0 0.642 TTGTTGGGGGACACGAGCCTG ABTB2 25841 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 11 34176285 34176285 + missense_variant Missense_Mutation SNP G G A TCGA-E1-5322-01 TCGA-E1-5322-10 Untested Somatic Phase_I WXS none Illumina GAIIx 139 108 ENST00000435224.2:c.2729C>T p.Thr910Ile p.T910I ENST00000435224 NM_145804.2 910 aCa/aTa 0 0.592 CATGGATTCTGTTCCTCCGTA CTTN 2017 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 11 70261803 70261803 + missense_variant Missense_Mutation SNP A A G TCGA-E1-5322-01 TCGA-E1-5322-10 Untested Somatic Phase_I WXS none Illumina GAIIx 362 212 ENST00000376561.3:c.437A>G p.Glu146Gly p.E146G ENST00000376561 NM_001184740.1 146 gAg/gGg 0 0.532 GGGAAGACTGAGAAGCATGCC CWF19L2 143884 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 11 107299708 107299708 + missense_variant Missense_Mutation SNP G G T TCGA-E1-5322-01 TCGA-E1-5322-10 Untested Somatic Phase_I WXS none Illumina GAIIx 527 42 ENST00000282251.5:c.1250C>A p.Thr417Lys p.T417K ENST00000282251 NM_152434.2 417 aCa/aAa 0 0.418 ACTCCATGATGTTAATCTTTC LRIG3 121227 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 12 59271321 59271321 + synonymous_variant Silent SNP C C T TCGA-E1-5322-01 TCGA-E1-5322-10 Untested Somatic Phase_I WXS none Illumina GAIIx 81 52 ENST00000320743.3:c.2397G>A p.Ser799= p.S799= ENST00000320743 NM_153377.4 799 tcG/tcA 0 0.562 CATCGTCTAACGATGGGGCTG TNRC6A 27327 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 16 24826581 24826581 + missense_variant Missense_Mutation SNP C C T TCGA-E1-5322-01 TCGA-E1-5322-10 Untested Somatic Phase_I WXS none Illumina GAIIx 112 71 ENST00000395799.3:c.4786C>T p.Arg1596Cys p.R1596C ENST00000395799 NM_014494.2 1596 Cgt/Tgt 0 0.448 TGGCTGGCCACGTGCCAAATC TP53 7157 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 7578442 7578442 + missense_variant Missense_Mutation SNP T T C rs148924904 TCGA-E1-5322-01 TCGA-E1-5322-10 Untested Somatic Phase_I WXS none Illumina GAIIx 20 139 ENST00000269305.4:c.488A>G p.Tyr163Cys p.Y163C ENST00000269305 NM_001126112.2 163 tAc/tGc 0 0.622 TGACTGCTTGTAGATGGCCAT NEK8 284086 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 27065006 27065006 + synonymous_variant Silent SNP C C T TCGA-E1-5322-01 TCGA-E1-5322-10 Untested Somatic Phase_I WXS none Illumina GAIIx 57 45 ENST00000268766.6:c.1059C>T p.Leu353= p.L353= ENST00000268766 NM_178170.2 353 ctC/ctT 0 0.701 CTGGGCGTCTCATCCTGTGGG SESN2 83667 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 28598956 28598956 + synonymous_variant Silent SNP C C T TCGA-E1-5322-01 TCGA-E1-5322-10 Untested Somatic Phase_I WXS none Illumina GAIIx 100 63 ENST00000253063.3:c.516C>T p.Leu172= p.L172= ENST00000253063 NM_031459.4 172 ctC/ctT 0 0.652 GGCCATGGCTCATCACCAAGG HRNR 388697 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 152192510 152192510 + missense_variant Missense_Mutation SNP C C T TCGA-E1-5322-01 TCGA-E1-5322-10 Untested Somatic Phase_I WXS none Illumina GAIIx 414 45 ENST00000368801.2:c.1595G>A p.Arg532Gln p.R532Q ENST00000368801 NM_001009931.2 532 cGa/cAa 0 0.567 AGACCCATGTCGGCTGTGTCC IDH1 3417 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T rs121913500 TCGA-E1-5322-01 TCGA-E1-5322-10 Untested Somatic Phase_I WXS none Illumina GAIIx 118 54 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 0.393 ATAAGCATGACGACCTATGAT DAW1 164781 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 228750104 228750104 + missense_variant Missense_Mutation SNP G G C TCGA-E1-5322-01 TCGA-E1-5322-10 Untested Somatic Phase_I WXS none Illumina GAIIx 258 19 ENST00000309931.2:c.78G>C p.Lys26Asn p.K26N ENST00000309931 NM_178821.1 26 aaG/aaC 0 0.343 GAGAATTAAAGACTAAGTCCA OR5H6 79295 hgsc.bcm.edu;broad.mit.edu GRCh37 3 97983515 97983515 + synonymous_variant Silent SNP T T C TCGA-E1-5322-01 TCGA-E1-5322-10 Untested Somatic Phase_I WXS none Illumina GAIIx 290 26 ENST00000383696.2:c.387T>C p.Phe129= p.F129= ENST00000383696 NM_001005479.1 129 ttT/ttC 0 0.368 CAGAATGTTTTCTCTTGGCAA PDE6B 5158 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 4 659049 659049 + synonymous_variant Silent SNP A A G TCGA-E1-5322-01 TCGA-E1-5322-10 Untested Somatic Phase_I WXS none Illumina GAIIx 56 21 ENST00000496514.1:c.2199A>G p.Ala733= p.A733= ENST00000496514 733 gcA/gcG 0 0.627 TCCAGGTCGCACTTCTCGTGG FOXP4 116113 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 6 41554783 41554783 + missense_variant Missense_Mutation SNP C C T TCGA-E1-5322-01 TCGA-E1-5322-10 Untested Somatic Phase_I WXS none Illumina GAIIx 71 9 ENST00000373060.1:c.547C>T p.Leu183Phe p.L183F ENST00000373060 NM_001012426.1 183 Ctc/Ttc 0 0.662 CCAGCAGCAGCTCCTGCAAAT LAMA2 3908 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 6 129475728 129475728 + missense_variant Missense_Mutation SNP G G A TCGA-E1-5322-01 TCGA-E1-5322-10 Untested Somatic Phase_I WXS none Illumina GAIIx 111 83 ENST00000421865.2:c.1106G>A p.Arg369His p.R369H ENST00000421865 NM_001079823.1 369 cGt/cAt 0 0.388 TTGAATATACGTGGAAAGTAC MACC1 346389 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 7 20198861 20198861 + missense_variant Missense_Mutation SNP A A G TCGA-E1-5322-01 TCGA-E1-5322-10 Untested Somatic Phase_I WXS none Illumina GAIIx 95 66 ENST00000400331.5:c.1123T>C p.Tyr375His p.Y375H ENST00000400331 NM_182762.3 375 Tat/Cat 0 0.398 TTGGGTCCATAAATTCCAATT SH2D3C 10044 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 9 130507277 130507277 + missense_variant Missense_Mutation SNP C C T TCGA-E1-5322-01 TCGA-E1-5322-10 Untested Somatic Phase_I WXS none Illumina GAIIx 189 24 ENST00000314830.8:c.1366G>A p.Ala456Thr p.A456T ENST00000314830 NM_170600.2 456 Gcc/Acc 0 0.662 GTCTTTGGGGCACTTCCGGGA MAP7D3 79649 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 135323365 135323365 + missense_variant Missense_Mutation SNP T T A TCGA-E1-5322-01 TCGA-E1-5322-10 Untested Somatic Phase_I WXS none Illumina GAIIx 137 91 ENST00000316077.9:c.489A>T p.Arg163Ser p.R163S ENST00000316077 NM_024597.3 163 agA/agT 0 0.323 CCCATGACCATCTTTTTTGCT FLOT1 10211 broad.mit.edu;ucsc.edu GRCh37 6 30708275 30708275 + missense_variant,splice_region_variant Missense_Mutation SNP G G A rs139987312 byFrequency TCGA-E1-5322-01 TCGA-E1-5322-10 Untested Somatic Phase_I WXS none Illumina GAIIx 143 106 ENST00000376389.3:c.568C>T p.Arg190Trp p.R190W ENST00000376389 NM_005803.2 190 Cgg/Tgg 0 0.532 TCTCTCACCCGGATCCCAGCA WNT9B 7484 broad.mit.edu;ucsc.edu GRCh37 17 44953783 44953783 + missense_variant Missense_Mutation SNP G G A rs149931425 by1000genomes TCGA-E1-5322-01 TCGA-E1-5322-10 Untested Somatic Phase_I WXS none Illumina GAIIx 89 54 ENST00000290015.2:c.773G>A p.Arg258His p.R258H ENST00000290015 NM_003396.1 258 cGc/cAc 0 0.642 GCCTTGGGCCGCCTAGAGCTG LIMCH1 22998 broad.mit.edu;ucsc.edu GRCh37 4 41646515 41646515 + splice_acceptor_variant Splice_Site SNP A A C TCGA-E1-5322-01 TCGA-E1-5322-10 Untested Somatic Phase_I WXS none Illumina GAIIx 9 10 ENST00000313860.7:c.972-2A>C p.X324_splice ENST00000313860 NM_014988.2 0 0.672 CTCCACACTCAGGAGCACCAG C3P1 388503 broad.mit.edu;ucsc.edu GRCh37 19 10165979 10165979 + non_coding_transcript_exon_variant RNA SNP G G A TCGA-E1-5322-01 TCGA-E1-5322-10 Untested Somatic Phase_I WXS none Illumina GAIIx 116 16 ENST00000497718.1:n.2693G>A *898* ENST00000497718 0 0.592 CACCTCCAAGGGGAACCCAGG OR2T1 26696 broad.mit.edu;hgsc.bcm.edu GRCh37 1 248570073 248570073 + frameshift_variant Frame_Shift_Del DEL C C - TCGA-E1-5322-01 TCGA-E1-5322-10 Untested Somatic Phase_I WXS none Illumina GAIIx 164 36 ENST00000366474.1:c.779delC p.Pro260LeufsTer4 p.P260Lfs*4 ENST00000366474 NM_030904.1 260 Cct/ct 0 0.507 GCTGCTGATTCCTTTCTCTGT FAM208B 54906 broad.mit.edu;hgsc.bcm.edu GRCh37 10 5784139 5784140 + frameshift_variant Frame_Shift_Del DEL AA AA - TCGA-E1-5322-01 TCGA-E1-5322-10 Untested Somatic Phase_I WXS none Illumina GAIIx 217 70 ENST00000328090.5:c.2407_2408delAA p.Asn803SerfsTer25 p.N803Sfs*25 ENST00000328090 NM_017782.4 803 AAt/t 0 0.396 GTTTTACAGCAATCAGAACAAA ATRX 546 broad.mit.edu;hgsc.bcm.edu GRCh37 X 76944356 76944356 + frameshift_variant Frame_Shift_Del DEL T T - TCGA-E1-5322-01 TCGA-E1-5322-10 Untested Somatic Phase_I WXS none Illumina GAIIx 231 157 ENST00000373344.5:c.549delA p.Asp184IlefsTer22 p.D184Ifs*22 ENST00000373344 NM_000489.3 183 aaA/aa 0 0.353 AAATGGAATCTTTTTGAAAAT ANKK1 255239 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 11 113267965 113267965 + synonymous_variant Silent SNP C C T TCGA-HT-7857-01 TCGA-HT-7857-10 Untested Somatic Phase_I WXS none Illumina GAIIx 42 10 ENST00000303941.3:c.858C>T p.Asp286= p.D286= ENST00000303941 NM_178510.1 286 gaC/gaT 0 0.582 TCGAGACAGACATACTGCTGT FMNL3 91010 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 12 50043069 50043069 + synonymous_variant Silent SNP A A G TCGA-HT-7857-01 TCGA-HT-7857-10 Untested Somatic Phase_I WXS none Illumina GAIIx 99 18 ENST00000335154.5:c.2358T>C p.Tyr786= p.Y786= ENST00000335154 NM_175736.4 786 taT/taC 0 0.572 GCTTGAAGCCATACACAGCTC PTPN11 5781 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 12 112888197 112888197 + missense_variant Missense_Mutation SNP T T A TCGA-HT-7857-01 TCGA-HT-7857-10 Untested Somatic Phase_I WXS none Illumina GAIIx 101 50 ENST00000351677.2:c.213T>A p.Phe71Leu p.F71L ENST00000351677 NM_002834.3 71 ttT/ttA 0 0.418 GGGAGAAATTTGCCACTTTGG NPAP1 23742 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 15 24921605 24921605 + synonymous_variant Silent SNP C C T TCGA-HT-7857-01 TCGA-HT-7857-10 Untested Somatic Phase_I WXS none Illumina GAIIx 47 6 ENST00000329468.2:c.591C>T p.Asp197= p.D197= ENST00000329468 NM_018958.2 197 gaC/gaT 0 0.592 CCCAGGGAGACGTGGCCTCCT VPS9D1 9605 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 16 89785502 89785502 + synonymous_variant Silent SNP G G A TCGA-HT-7857-01 TCGA-HT-7857-10 Untested Somatic Phase_I WXS none Illumina GAIIx 114 19 ENST00000389386.3:c.108C>T p.Tyr36= p.Y36= ENST00000389386 NM_004913.2 36 taC/taT 0 0.552 GGTATTCCGTGTATGCCTCCT NF1 4763 hgsc.bcm.edu;broad.mit.edu GRCh37 17 29576001 29576001 + splice_acceptor_variant Splice_Site SNP G G A TCGA-HT-7857-01 TCGA-HT-7857-10 Untested Somatic Phase_I WXS none Illumina GAIIx 38 48 ENST00000358273.4:c.3975-1G>A p.X1325_splice ENST00000358273 NM_001042492.2 0 0.368 TTTTTTTGTAGGTTAGAACCA DMRTC2 63946 hgsc.bcm.edu;ucsc.edu GRCh37 19 42354645 42354645 + synonymous_variant Silent SNP C C T TCGA-HT-7857-01 TCGA-HT-7857-10 Untested Somatic Phase_I WXS none Illumina GAIIx 50 28 ENST00000269945.3:c.868C>T p.Leu290= p.L290= ENST00000269945 NM_001040283.1 290 Ctg/Ttg 0 0.637 AGAGTGGCAGCTGCAGCAAGA ABCA4 24 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 94528252 94528252 + synonymous_variant Silent SNP G G T TCGA-HT-7857-01 TCGA-HT-7857-10 Untested Somatic Phase_I WXS none Illumina GAIIx 38 10 ENST00000370225.3:c.1818C>A p.Gly606= p.G606= ENST00000370225 NM_000350.2 606 ggC/ggA 0 0.562 AGGCAAACCCGCCCCAGATGT TET2 54790 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 4 106155166 106155166 + missense_variant Missense_Mutation SNP C C T TCGA-HT-7857-01 TCGA-HT-7857-10 Untested Somatic Phase_I WXS none Illumina GAIIx 43 11 ENST00000380013.4:c.67C>T p.Pro23Ser p.P23S ENST00000380013 NM_001127208.2 23 Ccc/Tcc 0 0.527 ACCATCACCTCCCATTTGCCA NAA15 80155 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 4 140262069 140262069 + stop_gained Nonsense_Mutation SNP G G A TCGA-HT-7857-01 TCGA-HT-7857-10 Untested Somatic Phase_I WXS none Illumina GAIIx 53 26 ENST00000296543.5:c.248G>A p.Trp83Ter p.W83* ENST00000296543 NM_057175.3 83 tGg/tAg 0 0.363 TCTTTAGGTTGGCACGTTTAT DUSP22 56940 hgsc.bcm.edu;broad.mit.edu GRCh37 6 348272 348272 + stop_gained,splice_region_variant Nonsense_Mutation SNP C C T TCGA-HT-7857-01 TCGA-HT-7857-10 Untested Somatic Phase_I WXS none Illumina GAIIx 140 15 ENST00000344450.5:c.433C>T p.Gln145Ter p.Q145* ENST00000344450 NM_020185.3 145 Cag/Tag 0 0.577 TGAGGTCCATCAGGTAAGCAG DNAH8 1769 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 6 38810444 38810444 + missense_variant Missense_Mutation SNP G G A TCGA-HT-7857-01 TCGA-HT-7857-10 Untested Somatic Phase_I WXS none Illumina GAIIx 68 25 ENST00000359357.3:c.3959G>A p.Arg1320His p.R1320H ENST00000359357 1320 cGt/cAt 0 0.323 GAAAGATGTCGTAAACTTCCA EXOC4 60412 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 7 133749244 133749244 + missense_variant Missense_Mutation SNP A A G TCGA-HT-7857-01 TCGA-HT-7857-10 Untested Somatic Phase_I WXS none Illumina GAIIx 80 21 ENST00000253861.4:c.2888A>G p.Lys963Arg p.K963R ENST00000253861 NM_021807.3 963 aAg/aGg 0 0.572 GCTGCCATCAAGCAAGCCACC UBR5 51366 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 8 103266680 103266680 + synonymous_variant Silent SNP G G A TCGA-HT-7857-01 TCGA-HT-7857-10 Untested Somatic Phase_I WXS none Illumina GAIIx 77 11 ENST00000520539.1:c.8250C>T p.Pro2750= p.P2750= ENST00000520539 NM_015902.5 2750 ccC/ccT 0 0.408 TTGTGATTGAGGGCATAGGCT KLHL25 64410 broad.mit.edu;ucsc.edu GRCh37 15 86311637 86311637 + missense_variant Missense_Mutation SNP C C T TCGA-HT-7857-01 TCGA-HT-7857-10 Untested Somatic Phase_I WXS none Illumina GAIIx 140 17 ENST00000337975.5:c.1405G>A p.Glu469Lys p.E469K ENST00000337975 NM_022480.3 469 Gag/Aag 0 0.602 CACCTGTTCTCCGAGGGGTCA OR10C1 442194 broad.mit.edu;ucsc.edu GRCh37 6 29407957 29407957 + missense_variant Missense_Mutation SNP G G T TCGA-HT-7857-01 TCGA-HT-7857-10 Untested Somatic Phase_I WXS none Illumina GAIIx 164 20 ENST00000444197.2:c.165G>T p.Gln55His p.Q55H ENST00000444197 NM_013941.3 55 caG/caT 0 0.567 CTGCCCTCCAGTCCCCTATGT EMC10 284361 broad.mit.edu;ucsc.edu GRCh37 19 50981247 50981247 + stop_gained Nonsense_Mutation SNP C C G TCGA-HT-7857-01 TCGA-HT-7857-10 Untested Somatic Phase_I WXS none Illumina GAIIx 33 3 ENST00000334976.6:c.176C>G p.Ser59Ter p.S59* ENST00000334976 NM_206538.2 59 tCa/tGa 0 0.607 CTGGAGCACTCATTTGAGATC PSME4 23198 broad.mit.edu;hgsc.bcm.edu GRCh37 2 54148047 54148049 + inframe_deletion In_Frame_Del DEL AGG AGG - TCGA-HT-7857-01 TCGA-HT-7857-10 Untested Somatic Phase_I WXS none Illumina GAIIx 75 22 ENST00000404125.1:c.2239_2241delCCT p.Pro747del p.P747del ENST00000404125 NM_014614.2 747 CCT/- 0 0.374 AGTATTCAGAAGGAGGCTTGTCA PLA2G15 23659 broad.mit.edu;hgsc.bcm.edu GRCh37 16 68293167 68293171 + frameshift_variant Frame_Shift_Del DEL CGTGC CGTGC - rs142263893 TCGA-HT-7857-01 TCGA-HT-7857-10 Untested Somatic Phase_I WXS none Illumina GAIIx 67 16 ENST00000219345.5:c.846_850delCGTGC p.Phe282LeufsTer22 p.F282Lfs*22 ENST00000219345 NM_012320.3 282 ttCGTGCag/ttag 0 0.58 AGAAGGTGTTCGTGCAGACACCCAC ATRX 546 broad.mit.edu GRCh37 X 76814303 76814306 + frameshift_variant Frame_Shift_Del DEL ATAA ATAA - TCGA-HT-7857-01 TCGA-HT-7857-10 Untested Somatic Phase_I WXS none Illumina GAIIx 68 18 ENST00000373344.5:c.6338_6341delTTAT p.Phe2113SerfsTer9 p.F2113Sfs*9 ENST00000373344 NM_000489.3 2113 tTTATc/tc 0 0.289 AGTAGAAATGATAAATAATCGTCC CNNM1 26507 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 10 101124220 101124220 + missense_variant Missense_Mutation SNP A A G TCGA-QH-A65Z-01 TCGA-QH-A65Z-10 Untested Somatic Phase_I WXS none Illumina GAIIx 17 9 ENST00000356713.4:c.2075A>G p.Asn692Ser p.N692S ENST00000356713 NM_020348.2 692 aAt/aGt 0 0.423 CGCTTTGAAAATGGAGCCTTT ACACB 32 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 12 109616926 109616926 + missense_variant Missense_Mutation SNP C C G TCGA-QH-A65Z-01 TCGA-QH-A65Z-10 Untested Somatic Phase_I WXS none Illumina GAIIx 31 17 ENST00000338432.7:c.1471C>G p.Leu491Val p.L491V ENST00000338432 491 Ctc/Gtc 0 0.562 GCCCATCTTTCTCATGAAGCT ACSF3 197322 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 16 89180794 89180794 + missense_variant Missense_Mutation SNP A A G TCGA-QH-A65Z-01 TCGA-QH-A65Z-10 Untested Somatic Phase_I WXS none Illumina GAIIx 104 33 ENST00000317447.4:c.1025A>G p.Lys342Arg p.K342R ENST00000317447 NM_174917.3 342 aAg/aGg 0 0.647 GTGCTGGAGAAGTGGAAGAAC MED24 9862 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 38188968 38188968 + missense_variant Missense_Mutation SNP G G T TCGA-QH-A65Z-01 TCGA-QH-A65Z-10 Untested Somatic Phase_I WXS none Illumina GAIIx 24 23 ENST00000394128.2:c.870C>A p.Phe290Leu p.F290L ENST00000394128 NM_014815.3 290 ttC/ttA 0 0.577 TGAGCCCCACGAAGCAAGCTT ARRDC5 645432 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 19 4891396 4891396 + missense_variant Missense_Mutation SNP G G C TCGA-QH-A65Z-01 TCGA-QH-A65Z-10 Untested Somatic Phase_I WXS none Illumina GAIIx 39 13 ENST00000381781.2:c.691C>G p.Gln231Glu p.Q231E ENST00000381781 NM_001080523.1 231 Cag/Gag 0 0.587 CCCTCGTACTGTATGTGGGCA PPP1R13L 10848 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 19 45895364 45895364 + missense_variant Missense_Mutation SNP G G A TCGA-QH-A65Z-01 TCGA-QH-A65Z-10 Untested Somatic Phase_I WXS none Illumina GAIIx 59 12 ENST00000418234.2:c.1589C>T p.Ala530Val p.A530V ENST00000418234 NM_001142502.1 530 gCc/gTc 0 0.687 CACAGCAGGGGCCTGCTCCAT EXTL1 2134 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 26349229 26349229 + missense_variant Missense_Mutation SNP G G A TCGA-QH-A65Z-01 TCGA-QH-A65Z-10 Untested Somatic Phase_I WXS none Illumina GAIIx 11 31 ENST00000374280.3:c.92G>A p.Arg31His p.R31H ENST00000374280 NM_004455.2 31 cGc/cAc 0 0.657 TCCCTTCTCCGCCTGGCATTG G0S2 50486 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 209849305 209849305 + synonymous_variant Silent SNP C C T TCGA-QH-A65Z-01 TCGA-QH-A65Z-10 Untested Somatic Phase_I WXS none Illumina GAIIx 28 13 ENST00000367029.4:c.276C>T p.Gly92= p.G92= ENST00000367029 NM_015714.3 92 ggC/ggT 0 0.667 CGGTCCTCGGCGGCCGGGCCC RYR2 6262 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 237957283 237957283 + synonymous_variant Silent SNP C C T TCGA-QH-A65Z-01 TCGA-QH-A65Z-10 Untested Somatic Phase_I WXS none Illumina GAIIx 21 16 ENST00000366574.2:c.13899C>T p.Leu4633= p.L4633= ENST00000366574 NM_001035.2 4633 ctC/ctT 0 0.363 GGGATAGACTCGTAATCAACA LAMA5 3911 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 20 60888747 60888747 + synonymous_variant Silent SNP G G A TCGA-QH-A65Z-01 TCGA-QH-A65Z-10 Untested Somatic Phase_I WXS none Illumina GAIIx 96 76 ENST00000252999.3:c.8616C>T p.Asp2872= p.D2872= ENST00000252999 NM_005560.4 2872 gaC/gaT 0 0.662 AGACGAAGTCGTCTGGCCGCA FZD7 8324 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 202900715 202900715 + missense_variant Missense_Mutation SNP C C T TCGA-QH-A65Z-01 TCGA-QH-A65Z-10 Untested Somatic Phase_I WXS none Illumina GAIIx 103 41 ENST00000286201.1:c.1345C>T p.Arg449Cys p.R449C ENST00000286201 NM_003507.1 449 Cgt/Tgt 0 0.612 GTCCCTCTTCCGTATCCGCAC IDH1 3417 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T rs121913500 TCGA-QH-A65Z-01 TCGA-QH-A65Z-10 Untested Somatic Phase_I WXS none Illumina GAIIx 39 25 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 0.393 ATAAGCATGACGACCTATGAT ECT2 1894 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 3 172501694 172501694 + missense_variant Missense_Mutation SNP C C T TCGA-QH-A65Z-01 TCGA-QH-A65Z-10 Untested Somatic Phase_I WXS none Illumina GAIIx 23 18 ENST00000392692.3:c.1723C>T p.Leu575Phe p.L575F ENST00000392692 NM_001258315.1 575 Ctc/Ttc 0 0.274 TCATGCTTTTCTCAAGGTAAT ABCE1 6059 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 4 146044497 146044497 + missense_variant Missense_Mutation SNP G G A TCGA-QH-A65Z-01 TCGA-QH-A65Z-10 Untested Somatic Phase_I WXS none Illumina GAIIx 33 41 ENST00000296577.4:c.1505G>A p.Arg502Gln p.R502Q ENST00000296577 NM_002940.2 502 cGa/cAa 0 0.383 ATGGCAGCTCGAGTTGTCAAA PHF3 23469 hgsc.bcm.edu;broad.mit.edu GRCh37 6 64423124 64423124 + synonymous_variant Silent SNP C C G TCGA-QH-A65Z-01 TCGA-QH-A65Z-10 Untested Somatic Phase_I WXS none Illumina GAIIx 155 12 ENST00000262043.3:c.5640C>G p.Gly1880= p.G1880= ENST00000262043 1880 ggC/ggG 0 0.507 GGTATATAGGCCCGCAGAATT SLC26A4 5172 hgsc.bcm.edu;broad.mit.edu GRCh37 7 107314667 107314667 + synonymous_variant Silent SNP C C T TCGA-QH-A65Z-01 TCGA-QH-A65Z-10 Untested Somatic Phase_I WXS none Illumina GAIIx 85 5 ENST00000265715.3:c.474C>T p.Asp158= p.D158= ENST00000265715 NM_000441.1 158 gaC/gaT 0 0.433 TGGCCCCCGACGAACACTTTC SVEP1 79987 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 9 113194246 113194246 + missense_variant Missense_Mutation SNP A A G TCGA-QH-A65Z-01 TCGA-QH-A65Z-10 Untested Somatic Phase_I WXS none Illumina GAIIx 75 29 ENST00000401783.2:c.5302T>C p.Tyr1768His p.Y1768H ENST00000401783 NM_153366.3 1768 Tac/Cac 0 0.378 GAACATATGTAGGATCCATCT XPNPEP2 7512 broad.mit.edu;ucsc.edu GRCh37 X 128879232 128879232 + synonymous_variant Silent SNP A A T TCGA-QH-A65Z-01 TCGA-QH-A65Z-10 Untested Somatic Phase_I WXS none Illumina GAIIx 31 3 ENST00000371106.3:c.288A>T p.Thr96= p.T96= ENST00000371106 NM_003399.5 96 acA/acT 0 0.488 CAGGCTTTACAGGGTCTGCAG TACR3 6870 broad.mit.edu;ucsc.edu GRCh37 4 104510918 104510918 + missense_variant Missense_Mutation SNP G G A TCGA-QH-A65Z-01 TCGA-QH-A65Z-10 Untested Somatic Phase_I WXS none Illumina GAIIx 107 70 ENST00000304883.2:c.1319C>T p.Ser440Phe p.S440F ENST00000304883 NM_001059.2 440 tCt/tTt 0 0.478 ATTCCTGCGAGAGCAGCCATT CREB3 10488 broad.mit.edu;ucsc.edu GRCh37 9 35736644 35736644 + missense_variant Missense_Mutation SNP A A C TCGA-QH-A65Z-01 TCGA-QH-A65Z-10 Untested Somatic Phase_I WXS none Illumina GAIIx 199 75 ENST00000353704.2:c.1037A>C p.Gln346Pro p.Q346P ENST00000353704 NM_006368.4 346 cAg/cCg 0 0.567 CTCCCCCTGCAGGCAAATCTC ITSN1 6453 broad.mit.edu;ucsc.edu GRCh37 21 35183494 35183494 + synonymous_variant Silent SNP G G A TCGA-QH-A65Z-01 TCGA-QH-A65Z-10 Untested Somatic Phase_I WXS none Illumina GAIIx 105 40 ENST00000381318.3:c.2535G>A p.Thr845= p.T845= ENST00000381318 NM_003024.2 845 acG/acA 0 0.547 AGCCCTCCACGACCCCTAATA SLC1A7 6512 broad.mit.edu;hgsc.bcm.edu GRCh37 1 53553683 53553684 + frameshift_variant,stop_lost Frame_Shift_Del DEL AG AG - TCGA-QH-A65Z-01 TCGA-QH-A65Z-10 Untested Somatic Phase_I WXS none Illumina GAIIx 20 18 ENST00000371494.4:c.1680_1681delCT p.Ter561SerfsTer41 p.*561Sfs*41 ENST00000371494 NM_006671.4 560 gtCTga/gtga 0 0.663 CCGCAGGCTCAGACATTGGTCT CTNNB1 1499 broad.mit.edu;hgsc.bcm.edu GRCh37 3 41275294 41275294 + frameshift_variant Frame_Shift_Del DEL T T - TCGA-QH-A65Z-01 TCGA-QH-A65Z-10 Untested Somatic Phase_I WXS none Illumina GAIIx 164 105 ENST00000349496.5:c.1461delT p.His488ThrfsTer19 p.H488Tfs*19 ENST00000349496 NM_001904.3 487 cTt/ct 0 0.493 GCAGTTCGCCTTCACTATGGA PRAG1 157285 broad.mit.edu;hgsc.bcm.edu GRCh37 8 8234817 8234819 + inframe_deletion In_Frame_Del DEL TCA TCA - TCGA-QH-A65Z-01 TCGA-QH-A65Z-10 Untested Somatic Phase_I WXS none Illumina GAIIx 26 15 ENST00000520004.1:c.1100_1102delTGA p.Met367del p.M367del ENST00000520004 367 aTGAag/aag 0 0.68 GCAGGTTCCTTCATGAGGGAGCA KAT6B 23522 broad.mit.edu;hgsc.bcm.edu GRCh37 10 76784946 76784949 + frameshift_variant Frame_Shift_Del DEL ACAA ACAA - TCGA-QH-A65Z-01 TCGA-QH-A65Z-10 Untested Somatic Phase_I WXS none Illumina GAIIx 37 14 ENST00000287239.4:c.3606_3609delAACA p.Thr1203ArgfsTer21 p.T1203Rfs*21 ENST00000287239 NM_001256468.1 1201 agACAA/ag 0 0.451 GGAAGAAAAGACAAACAGAGGAAG RBBP6 5930 broad.mit.edu;hgsc.bcm.edu GRCh37 16 24567746 24567747 + stop_gained,frameshift_variant Nonsense_Mutation INS - - A TCGA-QH-A65Z-01 TCGA-QH-A65Z-10 Untested Somatic Phase_I WXS none Illumina GAIIx 50 14 ENST00000319715.4:c.653dupA p.Tyr218Ter p.Y218* ENST00000319715 NM_006910.4 218 tat/tAat 0 0.401 CACTGGAAAATATGCAATACCA ZACN 353174 broad.mit.edu;hgsc.bcm.edu GRCh37 17 74075804 74075805 + frameshift_variant Frame_Shift_Ins INS - - CC TCGA-QH-A65Z-01 TCGA-QH-A65Z-10 Untested Somatic Phase_I WXS none Illumina GAIIx 55 21 ENST00000334586.5:c.245_246dupCC p.Ser83ProfsTer58 p.S83Pfs*58 ENST00000334586 NM_180990.3 82 tcc/tCCcc 0 0.569 ATACACAATGTCCTCCATGCTG CIC 23152 broad.mit.edu;hgsc.bcm.edu GRCh37 19 42797776 42797777 + frameshift_variant Frame_Shift_Del DEL GC GC - TCGA-QH-A65Z-01 TCGA-QH-A65Z-10 Untested Somatic Phase_I WXS none Illumina GAIIx 7 10 ENST00000575354.2:c.3831_3832delCG p.Val1278ProfsTer65 p.V1278Pfs*65 ENST00000575354 NM_015125.3 1276 tgGCgc/tggc 0 0.649 CTTCAGACTGGCGCGTCCCTGG CIC 23152 broad.mit.edu GRCh37 19 42798989 42798990 + frameshift_variant Frame_Shift_Ins INS - - A rs148444899 TCGA-QH-A65Z-01 TCGA-QH-A65Z-10 Untested Somatic Phase_I WXS none Illumina GAIIx 71 8 ENST00000575354.2:c.4473_4474insA p.Ala1492SerfsTer22 p.A1492Sfs*22 ENST00000575354 NM_015125.3 1491 -/A 0 0.574 AGGCCACAGCCGCCTTCCAGGC CAMK1D 57118 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 10 12803041 12803041 + missense_variant Missense_Mutation SNP G G A TCGA-DU-6407-01 TCGA-DU-6407-10 Untested Somatic Phase_I WXS none Illumina GAIIx 23 13 ENST00000378847.3:c.394G>A p.Val132Met p.V132M ENST00000378847 NM_153498.2 132 Gtg/Atg 0 0.577 CTTGGACGCCGTGTACTATCT MYO3A 53904 hgsc.bcm.edu;broad.mit.edu GRCh37 10 26359114 26359114 + synonymous_variant Silent SNP T T C TCGA-DU-6407-01 TCGA-DU-6407-10 Untested Somatic Phase_I WXS none Illumina GAIIx 75 4 ENST00000265944.5:c.1245T>C p.Tyr415= p.Y415= ENST00000265944 NM_017433.4 415 taT/taC 0 0.318 ACTTAGGATATCAATCTATGA HPS1 3257 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 10 100185433 100185433 + missense_variant Missense_Mutation SNP A A C TCGA-DU-6407-01 TCGA-DU-6407-10 Untested Somatic Phase_I WXS none Illumina GAIIx 25 15 ENST00000325103.6:c.1200T>G p.Asp400Glu p.D400E ENST00000325103 NM_000195.3 400 gaT/gaG 0 0.692 TGGAGAAGCCATCCATCAGCT CBX5 23468 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 12 54635636 54635636 + missense_variant Missense_Mutation SNP C C T TCGA-DU-6407-01 TCGA-DU-6407-10 Untested Somatic Phase_I WXS none Illumina GAIIx 72 45 ENST00000209875.4:c.479G>A p.Cys160Tyr p.C160Y ENST00000209875 NM_012117.2 160 tGt/tAt 0 0.398 AATTTGTGGACATTTCACATT MIPEP 4285 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 13 24444199 24444199 + missense_variant Missense_Mutation SNP C C T TCGA-DU-6407-01 TCGA-DU-6407-10 Untested Somatic Phase_I WXS none Illumina GAIIx 62 54 ENST00000382172.3:c.739G>A p.Asp247Asn p.D247N ENST00000382172 NM_005932.3 247 Gat/Aat 0 0.393 ATGATATGATCCCCAGCAGAT ZDHHC7 55625 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 16 85010046 85010046 + missense_variant Missense_Mutation SNP C C T TCGA-DU-6407-01 TCGA-DU-6407-10 Untested Somatic Phase_I WXS none Illumina GAIIx 24 17 ENST00000564466.1:c.941G>A p.Gly314Glu p.G314E ENST00000564466 NM_001145548.1 314 gGg/gAg 0 0.572 TGAGGGGGGCCCCCCAAAGAC TP53 7157 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 7579362 7579362 + missense_variant Missense_Mutation SNP A A C TCGA-DU-6407-01 TCGA-DU-6407-10 Untested Somatic Phase_I WXS none Illumina GAIIx 7 54 ENST00000269305.4:c.325T>G p.Phe109Val p.F109V ENST00000269305 NM_001126112.2 109 Ttc/Gtc 0 0.612 CCCAGACGGAAACCGTAGCTG ACACA 31 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 35640173 35640173 + missense_variant Missense_Mutation SNP T T C TCGA-DU-6407-01 TCGA-DU-6407-10 Untested Somatic Phase_I WXS none Illumina GAIIx 45 15 ENST00000353139.5:c.605A>G p.Asn202Ser p.N202S ENST00000353139 NM_198834.1 202 aAt/aGt 0 0.408 CTCACCTGCATTGGCTTTAAG HNF1B 6928 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 36059196 36059196 + synonymous_variant Silent SNP G G A TCGA-DU-6407-01 TCGA-DU-6407-10 Untested Somatic Phase_I WXS none Illumina GAIIx 43 7 ENST00000225893.4:c.1539C>T p.Tyr513= p.Y513= ENST00000225893 NM_001165923.1 513 taC/taT 0 0.532 GCTTGTGTGCGTACACTGGAG FPGT 8790 hgsc.bcm.edu;ucsc.edu GRCh37 1 74670899 74670899 + missense_variant Missense_Mutation SNP C C A TCGA-DU-6407-01 TCGA-DU-6407-10 Untested Somatic Phase_I WXS none Illumina GAIIx 68 11 ENST00000609362.1:c.1168C>A p.Pro390Thr p.P390T ENST00000609362 390 Cca/Aca 0 0.388 TAGTATCTTTCCAGATATACC USP25 29761 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 21 17246819 17246819 + missense_variant Missense_Mutation SNP T T C TCGA-DU-6407-01 TCGA-DU-6407-10 Untested Somatic Phase_I WXS none Illumina GAIIx 182 34 ENST00000285679.6:c.2773T>C p.Ser925Pro p.S925P ENST00000285679 NM_013396.3 925 Tca/Cca 0 0.328 AGAATTGATATCACATTATAG CYP26B1 56603 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 72359586 72359586 + missense_variant Missense_Mutation SNP C C T TCGA-DU-6407-01 TCGA-DU-6407-10 Untested Somatic Phase_I WXS none Illumina GAIIx 17 20 ENST00000001146.2:c.1309G>A p.Gly437Ser p.G437S ENST00000001146 NM_019885.3 437 Ggt/Agt 0 0.647 GTCCGGACACCGCCACCGAAC SCN1A 6323 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 166872165 166872165 + missense_variant Missense_Mutation SNP C C T rs146374754 TCGA-DU-6407-01 TCGA-DU-6407-10 Untested Somatic Phase_I WXS none Illumina GAIIx 87 54 ENST00000303395.4:c.3502G>A p.Val1168Ile p.V1168I ENST00000303395 1168 Gta/Ata 0 0.413 GGTTCCACTACGGGCTGTTCT IDH1 3417 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T rs121913500 TCGA-DU-6407-01 TCGA-DU-6407-10 Untested Somatic Phase_I WXS none Illumina GAIIx 38 24 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 0.393 ATAAGCATGACGACCTATGAT LMCD1 29995 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 3 8590439 8590439 + synonymous_variant Silent SNP C C T TCGA-DU-6407-01 TCGA-DU-6407-10 Untested Somatic Phase_I WXS none Illumina GAIIx 70 34 ENST00000157600.3:c.573C>T p.Ser191= p.S191= ENST00000157600 NM_014583.3 191 agC/agT 0 0.587 AATATAAGAGCGAGGCCCTCG FAM134B 54463 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 5 16475174 16475174 + synonymous_variant Silent SNP C C T TCGA-DU-6407-01 TCGA-DU-6407-10 Untested Somatic Phase_I WXS none Illumina GAIIx 52 38 ENST00000306320.9:c.1170G>A p.Thr390= p.T390= ENST00000306320 NM_001034850.2 390 acG/acA 0 0.493 CTGCTGATTGCGTCTCTTTGC CHDC2 286464 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 36091355 36091355 + missense_variant Missense_Mutation SNP C C A TCGA-DU-6407-01 TCGA-DU-6407-10 Untested Somatic Phase_I WXS none Illumina GAIIx 64 30 ENST00000313548.4:c.290C>A p.Ser97Tyr p.S97Y ENST00000313548 NM_173695.2 97 tCt/tAt 0 0.433 CAATTCCTTTCTCTTGAGGAA HNRNPH2 3188 hgsc.bcm.edu;broad.mit.edu GRCh37 X 100667035 100667035 + missense_variant Missense_Mutation SNP G G T TCGA-DU-6407-01 TCGA-DU-6407-10 Untested Somatic Phase_I WXS none Illumina GAIIx 99 5 ENST00000316594.5:c.59G>T p.Trp20Leu p.W20L ENST00000316594 NM_001199974.1 20 tGg/tTg 0 0.527 GGCCTACCCTGGTCCTGCTCA IGF2R 3482 broad.mit.edu;ucsc.edu GRCh37 6 160501242 160501242 + missense_variant Missense_Mutation SNP C C T TCGA-DU-6407-01 TCGA-DU-6407-10 Untested Somatic Phase_I WXS none Illumina GAIIx 50 44 ENST00000356956.1:c.5768C>T p.Ala1923Val p.A1923V ENST00000356956 NM_000876.2 1923 gCg/gTg 0 0.557 GAGAGCAGGGCGAAGCTGTGG GATA3 2625 broad.mit.edu;ucsc.edu GRCh37 10 8100437 8100437 + synonymous_variant Silent SNP G G A TCGA-DU-6407-01 TCGA-DU-6407-10 Untested Somatic Phase_I WXS none Illumina GAIIx 39 33 ENST00000346208.3:c.411G>A p.Ser137= p.S137= ENST00000346208 137 tcG/tcA 0 0.716 CCCCGGCCTCGTCCTCCTCCT HELZ 9931 broad.mit.edu;ucsc.edu GRCh37 17 65105677 65105677 + synonymous_variant Silent SNP A A G TCGA-DU-6407-01 TCGA-DU-6407-10 Untested Somatic Phase_I WXS none Illumina GAIIx 42 43 ENST00000358691.5:c.4044T>C p.Ala1348= p.A1348= ENST00000358691 NM_014877.3 1348 gcT/gcC 0 0.473 GTGCGTGGGGAGCAGGAAGGG PDK1 5163 broad.mit.edu;ucsc.edu GRCh37 2 173423525 173423525 + missense_variant Missense_Mutation SNP C C G TCGA-DU-6407-01 TCGA-DU-6407-10 Untested Somatic Phase_I WXS none Illumina GAIIx 42 30 ENST00000282077.3:c.286C>G p.Leu96Val p.L96V ENST00000282077 96 Ctc/Gtc 0 0.393 AGAAATAAGTCTCCTTCCAGA ATRX 546 broad.mit.edu;hgsc.bcm.edu GRCh37 X 76939340 76939343 + frameshift_variant Frame_Shift_Del DEL CTAC CTAC - TCGA-DU-6407-01 TCGA-DU-6407-10 Untested Somatic Phase_I WXS none Illumina GAIIx 277 132 ENST00000373344.5:c.1405_1408delGTAG p.Val469IlefsTer44 p.V469Ifs*44 ENST00000373344 NM_000489.3 469 GTAGat/at 0 0.358 TGCTCACTATCTACCTGTTTTCTT PLAC9 219348 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 10 81901857 81901857 + synonymous_variant Silent SNP T T A TCGA-HT-7477-01 TCGA-HT-7477-10 Untested Somatic Phase_I WXS none Illumina GAIIx 57 10 ENST00000372263.3:c.84T>A p.Pro28= p.P28= ENST00000372263 NM_001012973.1 28 ccT/ccA 0 0.532 CCTTCAGCCCTCCGCGAGGAG OR4S2 219431 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 11 55419308 55419308 + missense_variant Missense_Mutation SNP G G T TCGA-HT-7477-01 TCGA-HT-7477-10 Untested Somatic Phase_I WXS none Illumina GAIIx 90 62 ENST00000312422.2:c.929G>T p.Gly310Val p.G310V ENST00000312422 NM_001004059.2 310 gGg/gTg 0 0.363 GAGGCTAAAGGGAAATAGTTG FAT3 120114 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 11 92624025 92624025 + missense_variant Missense_Mutation SNP G G T TCGA-HT-7477-01 TCGA-HT-7477-10 Untested Somatic Phase_I WXS none Illumina GAIIx 40 23 ENST00000298047.6:c.13516G>T p.Val4506Leu p.V4506L ENST00000298047 4506 Gtg/Ttg 0 0.582 AACGGATTTGGTGGGCCCGCC TUBGCP3 10426 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 13 113181323 113181323 + synonymous_variant Silent SNP A A C TCGA-HT-7477-01 TCGA-HT-7477-10 Untested Somatic Phase_I WXS none Illumina GAIIx 42 9 ENST00000261965.3:c.1488T>G p.Val496= p.V496= ENST00000261965 NM_006322.4 496 gtT/gtG 0 0.398 GATCATGACAAACTTGGTGCA DLGAP5 9787 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 14 55643912 55643912 + missense_variant Missense_Mutation SNP G G A TCGA-HT-7477-01 TCGA-HT-7477-10 Untested Somatic Phase_I WXS none Illumina GAIIx 13 19 ENST00000247191.2:c.917C>T p.Ser306Phe p.S306F ENST00000247191 NM_014750.4 306 tCc/tTc 0 0.383 AGGTGCAAAGGAATTCTTCCC TP53 7157 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 7578394 7578394 + missense_variant Missense_Mutation SNP T T C TCGA-HT-7477-01 TCGA-HT-7477-10 Untested Somatic Phase_I WXS none Illumina GAIIx 9 74 ENST00000269305.4:c.536A>G p.His179Arg p.H179R ENST00000269305 NM_001126112.2 179 cAt/cGt 0 0.642 GCAGCGCTCATGGTGGGGGCA MYO15A 51168 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 18022907 18022907 + missense_variant Missense_Mutation SNP G G A TCGA-HT-7477-01 TCGA-HT-7477-10 Untested Somatic Phase_I WXS none Illumina GAIIx 68 41 ENST00000205890.5:c.793G>A p.Gly265Ser p.G265S ENST00000205890 NM_016239.3 265 Ggc/Agc 0 0.652 GGCGGGCCTCGGCCCCTACAG VEZF1 7716 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 56060673 56060673 + missense_variant Missense_Mutation SNP C C G TCGA-HT-7477-01 TCGA-HT-7477-10 Untested Somatic Phase_I WXS none Illumina GAIIx 94 77 ENST00000581208.1:c.115G>C p.Asp39His p.D39H ENST00000581208 NM_007146.2 39 Gat/Cat 0 0.473 GGTTTCTGATCAGGGGGCTCC DNAI2 64446 hgsc.bcm.edu;broad.mit.edu GRCh37 17 72301394 72301394 + missense_variant Missense_Mutation SNP G G A TCGA-HT-7477-01 TCGA-HT-7477-10 Untested Somatic Phase_I WXS none Illumina GAIIx 111 11 ENST00000446837.2:c.1024G>A p.Val342Ile p.V342I ENST00000446837 342 Gtc/Atc 0 0.577 GCAGGGCATCGTCATCTCCTG NUDT19 390916 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 19 33183087 33183087 + missense_variant Missense_Mutation SNP C C T TCGA-HT-7477-01 TCGA-HT-7477-10 Untested Somatic Phase_I WXS none Illumina GAIIx 36 9 ENST00000397061.3:c.221C>T p.Ala74Val p.A74V ENST00000397061 NM_001105570.1 74 gCg/gTg 0 0.751 GACCGCTCGGCGGACTGGCTG CROCC 9696 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 17264170 17264170 + missense_variant Missense_Mutation SNP G G C rs141704732 TCGA-HT-7477-01 TCGA-HT-7477-10 Untested Somatic Phase_I WXS none Illumina GAIIx 34 6 ENST00000375541.5:c.1228G>C p.Glu410Gln p.E410Q ENST00000375541 NM_014675.3 410 Gag/Cag 0 0.572 GAAGCGTCTTGAGAAGCAGAA FCRL5 83416 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 157514077 157514077 + missense_variant Missense_Mutation SNP G G T TCGA-HT-7477-01 TCGA-HT-7477-10 Untested Somatic Phase_I WXS none Illumina GAIIx 155 134 ENST00000361835.3:c.819C>A p.Ser273Arg p.S273R ENST00000361835 NM_001195388.1 273 agC/agA 0 0.512 AGGATCTCGGGCTGTCAGATA PTGS2 5743 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 186643728 186643728 + synonymous_variant Silent SNP A A G TCGA-HT-7477-01 TCGA-HT-7477-10 Untested Somatic Phase_I WXS none Illumina GAIIx 111 21 ENST00000367468.5:c.1572T>C p.Val524= p.V524= ENST00000367468 NM_000963.2 524 gtT/gtC 0 0.458 GAGAACATATAACATTACCCA LAD1 3898 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 201352455 201352455 + missense_variant Missense_Mutation SNP G G A TCGA-HT-7477-01 TCGA-HT-7477-10 Untested Somatic Phase_I WXS none Illumina GAIIx 201 70 ENST00000391967.2:c.1238C>T p.Thr413Met p.T413M ENST00000391967 NM_005558.3 413 aCg/aTg 0 0.597 CCGTATGGCCGTGTGGTATCT RYR2 6262 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 237804274 237804274 + missense_variant Missense_Mutation SNP T T C TCGA-HT-7477-01 TCGA-HT-7477-10 Untested Somatic Phase_I WXS none Illumina GAIIx 14 19 ENST00000366574.2:c.7193T>C p.Leu2398Pro p.L2398P ENST00000366574 NM_001035.2 2398 cTc/cCc 0 0.453 TTGATTGACCTCTTGGGACGC SPATA2 9825 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 20 48523042 48523042 + missense_variant Missense_Mutation SNP G G A TCGA-HT-7477-01 TCGA-HT-7477-10 Untested Somatic Phase_I WXS none Illumina GAIIx 51 18 ENST00000422556.1:c.677C>T p.Ser226Leu p.S226L ENST00000422556 NM_001135773.1 226 tCa/tTa 0 0.672 TGCCACTCGTGACATGGAGGC SCUBE1 80274 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 22 43606074 43606074 + synonymous_variant Silent SNP G G A TCGA-HT-7477-01 TCGA-HT-7477-10 Untested Somatic Phase_I WXS none Illumina GAIIx 16 47 ENST00000360835.4:c.2556C>T p.Gly852= p.G852= ENST00000360835 NM_173050.3 852 ggC/ggT 0 0.632 CCAGAACATCGCCGCACTCAT GPR45 11250 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 105858985 105858985 + missense_variant Missense_Mutation SNP A A G TCGA-HT-7477-01 TCGA-HT-7477-10 Untested Somatic Phase_I WXS none Illumina GAIIx 67 23 ENST00000258456.1:c.670A>G p.Lys224Glu p.K224E ENST00000258456 NM_007227.3 224 Aag/Gag 0 0.672 CACGGTCCGCAAGAACGCCGT TTN 7273 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 179588855 179588855 + missense_variant Missense_Mutation SNP G G A TCGA-HT-7477-01 TCGA-HT-7477-10 Untested Somatic Phase_I WXS none Illumina GAIIx 8 13 ENST00000589042.1:c.21131C>T p.Pro7044Leu p.P7044L ENST00000589042 NM_001267550.1 7044 cCc/cTc 0 0.423 TGTGAAAGAGGGAGGAACTGC DNAH7 56171 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 196749379 196749379 + missense_variant Missense_Mutation SNP G G A TCGA-HT-7477-01 TCGA-HT-7477-10 Untested Somatic Phase_I WXS none Illumina GAIIx 45 16 ENST00000312428.6:c.5693C>T p.Thr1898Ile p.T1898I ENST00000312428 NM_018897.2 1898 aCa/aTa 0 0.358 CTTTGAGGATGTTTGCTCAGT IDH1 3417 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T rs121913500 TCGA-HT-7477-01 TCGA-HT-7477-10 Untested Somatic Phase_I WXS none Illumina GAIIx 26 28 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 0.393 ATAAGCATGACGACCTATGAT ANKMY1 51281 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 241468460 241468460 + missense_variant Missense_Mutation SNP T T G TCGA-HT-7477-01 TCGA-HT-7477-10 Untested Somatic Phase_I WXS none Illumina GAIIx 124 26 ENST00000391987.1:c.680A>C p.Lys227Thr p.K227T ENST00000391987 227 aAg/aCg 0 0.522 TCACCTGAACTTGTAAGTTTG NBEAL2 23218 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 3 47038035 47038035 + missense_variant Missense_Mutation SNP T T C TCGA-HT-7477-01 TCGA-HT-7477-10 Untested Somatic Phase_I WXS none Illumina GAIIx 16 7 ENST00000450053.3:c.2426T>C p.Phe809Ser p.F809S ENST00000450053 NM_015175.2 809 tTt/tCt 0 0.657 GTGGCCATCTTTCACGAAGCC P2RY12 64805 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 3 151056104 151056104 + missense_variant Missense_Mutation SNP A A T TCGA-HT-7477-01 TCGA-HT-7477-10 Untested Somatic Phase_I WXS none Illumina GAIIx 54 22 ENST00000302632.3:c.530T>A p.Phe177Tyr p.F177Y ENST00000302632 NM_022788.4 177 tTc/tAc 0 0.368 TGATTTAAGGAAAGAGCATTT RGS12 6002 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 4 3318009 3318009 + missense_variant Missense_Mutation SNP G G A TCGA-HT-7477-01 TCGA-HT-7477-10 Untested Somatic Phase_I WXS none Illumina GAIIx 184 19 ENST00000344733.5:c.112G>A p.Gly38Arg p.G38R ENST00000344733 NM_198229.2 38 Gga/Aga 0 0.637 CACGCTTTCGGGACAGGCACC FRYL 285527 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 4 48536663 48536663 + synonymous_variant Silent SNP G G A TCGA-HT-7477-01 TCGA-HT-7477-10 Untested Somatic Phase_I WXS none Illumina GAIIx 16 37 ENST00000358350.4:c.6604C>T p.Leu2202= p.L2202= ENST00000358350 NM_015030.1 2202 Cta/Tta 0 0.313 ATAATCTGTAGTAATGATTGC C4orf21 55345 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 4 113475127 113475127 + missense_variant Missense_Mutation SNP C C A TCGA-HT-7477-01 TCGA-HT-7477-10 Untested Somatic Phase_I WXS none Illumina GAIIx 133 16 ENST00000505019.1:c.5210G>T p.Gly1737Val p.G1737V ENST00000505019 NM_018392.4 1737 gGc/gTc 0 0.313 ATTTTCTGAGCCAGCATGCAA BBS12 166379 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 4 123664898 123664898 + synonymous_variant Silent SNP A A G TCGA-HT-7477-01 TCGA-HT-7477-10 Untested Somatic Phase_I WXS none Illumina GAIIx 45 16 ENST00000542236.1:c.1851A>G p.Thr617= p.T617= ENST00000542236 NM_001178007.1 617 acA/acG 0 0.363 AAGCCAGCACATACATTCAAC TRIML2 205860 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 4 189018488 189018488 + missense_variant Missense_Mutation SNP A A G TCGA-HT-7477-01 TCGA-HT-7477-10 Untested Somatic Phase_I WXS none Illumina GAIIx 64 44 ENST00000512729.1:c.484T>C p.Ser162Pro p.S162P ENST00000512729 NM_173553.1 162 Tct/Cct 0 0.383 CTTTCTAAAGAGTATTTTGCA CDH9 1007 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 5 26881636 26881636 + missense_variant Missense_Mutation SNP T T C TCGA-HT-7477-01 TCGA-HT-7477-10 Untested Somatic Phase_I WXS none Illumina GAIIx 131 40 ENST00000231021.4:c.1979A>G p.Asn660Ser p.N660S ENST00000231021 NM_016279.3 660 aAc/aGc 0 0.428 GCCTTCATCGTTGTAGGTCAC EGFLAM 133584 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 5 38338820 38338820 + synonymous_variant Silent SNP C C T rs142461042 TCGA-HT-7477-01 TCGA-HT-7477-10 Untested Somatic Phase_I WXS none Illumina GAIIx 29 27 ENST00000354891.3:c.228C>T p.Gly76= p.G76= ENST00000354891 NM_001205301.1 76 ggC/ggT 0 0.532 CTGAGGTTGGCGCAGATAAAT SLC26A2 1836 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 5 149357883 149357883 + missense_variant Missense_Mutation SNP G G A TCGA-HT-7477-01 TCGA-HT-7477-10 Untested Somatic Phase_I WXS none Illumina GAIIx 39 49 ENST00000286298.4:c.668G>A p.Ser223Asn p.S223N ENST00000286298 NM_000112.3 223 aGc/aAc 0 0.353 ATGGTTGGCAGCACTGTAACC PGK2 5232 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 6 49754106 49754106 + synonymous_variant Silent SNP G G A TCGA-HT-7477-01 TCGA-HT-7477-10 Untested Somatic Phase_I WXS none Illumina GAIIx 143 26 ENST00000304801.3:c.795C>T p.Ile265= p.I265= ENST00000304801 NM_138733.4 265 atC/atT 0 0.418 TATCTTTAACGATCTTGGCTC RIMS1 22999 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 6 72967911 72967911 + missense_variant Missense_Mutation SNP C C T TCGA-HT-7477-01 TCGA-HT-7477-10 Untested Somatic Phase_I WXS none Illumina GAIIx 20 12 ENST00000521978.1:c.2854C>T p.Arg952Cys p.R952C ENST00000521978 NM_014989.5 952 Cgt/Tgt 0 0.463 TCACCGCTCACGTTCAGTATC TTK 7272 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 6 80720598 80720598 + missense_variant Missense_Mutation SNP G G A TCGA-HT-7477-01 TCGA-HT-7477-10 Untested Somatic Phase_I WXS none Illumina GAIIx 44 22 ENST00000369798.2:c.537G>A p.Met179Ile p.M179I ENST00000369798 NM_003318.4 179 atG/atA 0 0.348 CACTAGAAATGCTGGAAATTG CARD11 84433 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 7 2963945 2963945 + missense_variant Missense_Mutation SNP G G A TCGA-HT-7477-01 TCGA-HT-7477-10 Untested Somatic Phase_I WXS none Illumina GAIIx 71 32 ENST00000396946.4:c.1862C>T p.Ser621Phe p.S621F ENST00000396946 NM_032415.4 621 tCc/tTc 0 0.607 TTGGTGGGAGGAGGAGGAGGA DBNL 28988 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 7 44097451 44097451 + missense_variant Missense_Mutation SNP A A G TCGA-HT-7477-01 TCGA-HT-7477-10 Untested Somatic Phase_I WXS none Illumina GAIIx 46 27 ENST00000468694.1:c.545A>G p.Lys182Arg p.K182R ENST00000468694 NM_001122956.1 182 aAa/aGa 0 0.547 TTCTGGGCCAAAGCAGAGGTG TRIP6 7205 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 7 100465834 100465834 + synonymous_variant Silent SNP G G A TCGA-HT-7477-01 TCGA-HT-7477-10 Untested Somatic Phase_I WXS none Illumina GAIIx 44 23 ENST00000200457.4:c.342G>A p.Ala114= p.A114= ENST00000200457 NM_003302.2 114 gcG/gcA 0 0.662 GGGGTCATGCGTCACGGCGAC LRRC4 64101 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 7 127668930 127668930 + synonymous_variant Silent SNP G G C rs139849197 TCGA-HT-7477-01 TCGA-HT-7477-10 Untested Somatic Phase_I WXS none Illumina GAIIx 23 20 ENST00000249363.3:c.1764C>G p.Ser588= p.S588= ENST00000249363 NM_022143.4 588 tcC/tcG 0 0.547 CTGATACACCGGACGGAgctg PSD3 23362 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 8 18729531 18729531 + synonymous_variant Silent SNP T T A TCGA-HT-7477-01 TCGA-HT-7477-10 Untested Somatic Phase_I WXS none Illumina GAIIx 119 24 ENST00000327040.8:c.843A>T p.Pro281= p.P281= ENST00000327040 NM_015310.3 281 ccA/ccT 0 0.567 CACATCCCCCTGGGTGCTCTC FUT10 84750 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 8 33246920 33246920 + missense_variant Missense_Mutation SNP T T C TCGA-HT-7477-01 TCGA-HT-7477-10 Untested Somatic Phase_I WXS none Illumina GAIIx 88 66 ENST00000327671.5:c.773A>G p.Asn258Ser p.N258S ENST00000327671 NM_032664.3 258 aAt/aGt 0 0.438 AGAGGCTGGATTTTTCAGCTG ADAM2 2515 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 8 39624672 39624672 + splice_region_variant,synonymous_variant Splice_Region SNP T T C TCGA-HT-7477-01 TCGA-HT-7477-10 Untested Somatic Phase_I WXS none Illumina GAIIx 88 80 ENST00000265708.4:c.1311A>G p.Leu437= p.L437= ENST00000265708 NM_001464.4 437 ctA/ctG 0 0.343 AAGCTCTTACTAGACAGTTTT FPGS 2356 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 9 130569293 130569293 + missense_variant Missense_Mutation SNP A A G TCGA-HT-7477-01 TCGA-HT-7477-10 Untested Somatic Phase_I WXS none Illumina GAIIx 151 40 ENST00000373247.2:c.428A>G p.Asn143Ser p.N143S ENST00000373247 NM_004957.4 143 aAt/aGt 0 0.657 ATCCGCATCAATGGGCAGCCC ZER1 10444 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 9 131503855 131503855 + missense_variant Missense_Mutation SNP G G A TCGA-HT-7477-01 TCGA-HT-7477-10 Untested Somatic Phase_I WXS none Illumina GAIIx 187 39 ENST00000291900.2:c.1696C>T p.Leu566Phe p.L566F ENST00000291900 NM_006336.3 566 Ctc/Ttc 0 0.567 TTGAAATTGAGGAACATCTCG ATRX 546 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 76940500 76940500 + splice_acceptor_variant Splice_Site SNP T T G TCGA-HT-7477-01 TCGA-HT-7477-10 Untested Somatic Phase_I WXS none Illumina GAIIx 5 47 ENST00000373344.5:c.595-2A>C p.X199_splice ENST00000373344 NM_000489.3 0 0.294 AAAGCAATTCTATTAAAAGAA ACTRT1 139741 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 127185376 127185376 + synonymous_variant Silent SNP G G T TCGA-HT-7477-01 TCGA-HT-7477-10 Untested Somatic Phase_I WXS none Illumina GAIIx 30 49 ENST00000371124.3:c.810C>A p.Ile270= p.I270= ENST00000371124 NM_138289.3 270 atC/atA 0 0.512 CTGGGCTGTGGATGCCCAGCT OR51D1 390038 broad.mit.edu;ucsc.edu GRCh37 11 4661741 4661741 + missense_variant Missense_Mutation SNP C C A TCGA-HT-7477-01 TCGA-HT-7477-10 Untested Somatic Phase_I WXS none Illumina GAIIx 38 17 ENST00000357605.2:c.721C>A p.Leu241Met p.L241M ENST00000357605 NM_001004751.2 241 Ctg/Atg 0 0.512 TGTTTTGGAGCTGTCCTCTCG KCNK18 338567 hgsc.bcm.edu;broad.mit.edu GRCh37 10 118957048 118957048 + synonymous_variant Silent SNP C C T TCGA-HT-7608-01 TCGA-HT-7608-10 Untested Somatic Phase_I WXS none Illumina GAIIx 76 5 ENST00000334549.1:c.49C>T p.Leu17= p.L17= ENST00000334549 NM_181840.1 17 Ctg/Ttg 0 0.632 CCCAGAGGCCCTGGGAAAGCT PRPF40B 25766 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 12 50036431 50036431 + synonymous_variant Silent SNP C C G TCGA-HT-7608-01 TCGA-HT-7608-10 Untested Somatic Phase_I WXS none Illumina GAIIx 32 29 ENST00000548825.2:c.2091C>G p.Leu697= p.L697= ENST00000548825 NM_001031698.2 697 ctC/ctG 0 0.557 GGATCCGGCTCTTCCGGGAGT EIF2B1 1967 hgsc.bcm.edu;broad.mit.edu GRCh37 12 124111689 124111689 + synonymous_variant Silent SNP G G A rs146748240 byFrequency TCGA-HT-7608-01 TCGA-HT-7608-10 Untested Somatic Phase_I WXS none Illumina GAIIx 138 9 ENST00000424014.2:c.384C>T p.His128= p.H128= ENST00000424014 NM_001414.3 128 caC/caT 0 0.562 TGGAGTAGGCGTGAGTCAATA TSHR 7253 hgsc.bcm.edu;broad.mit.edu GRCh37 14 81609744 81609744 + missense_variant Missense_Mutation SNP G G A rs146403935 by1000genomes TCGA-HT-7608-01 TCGA-HT-7608-10 Untested Somatic Phase_I WXS none Illumina GAIIx 202 14 ENST00000298171.2:c.1342G>A p.Val448Ile p.V448I ENST00000298171 NM_000369.2 448 Gtc/Atc 0 0.517 CAAACTGAACGTCCCCCGCTT KLHL25 64410 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 15 86312652 86312652 + synonymous_variant Silent SNP G G A TCGA-HT-7608-01 TCGA-HT-7608-10 Untested Somatic Phase_I WXS none Illumina GAIIx 60 10 ENST00000337975.5:c.390C>T p.His130= p.H130= ENST00000337975 NM_022480.3 130 caC/caT 0 0.622 CCCGCACATCGTGGAACTGCA MYH8 4626 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 10299697 10299697 + stop_gained Nonsense_Mutation SNP G G A TCGA-HT-7608-01 TCGA-HT-7608-10 Untested Somatic Phase_I WXS none Illumina GAIIx 28 6 ENST00000403437.2:c.4603C>T p.Gln1535Ter p.Q1535* ENST00000403437 NM_002472.2 1535 Caa/Taa 0 0.383 TGTTCTACTTGCTTCTTTATT KRT15 3866 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 39673185 39673185 + missense_variant Missense_Mutation SNP C C T rs138271368 TCGA-HT-7608-01 TCGA-HT-7608-10 Untested Somatic Phase_I WXS none Illumina GAIIx 89 14 ENST00000254043.3:c.613G>A p.Val205Ile p.V205I ENST00000254043 NM_002275.3 205 Gtt/Att 0 0.612 TCAGCCTCAACGCCCTGGCGC DNM2 1785 hgsc.bcm.edu;ucsc.edu GRCh37 19 10908139 10908139 + missense_variant Missense_Mutation SNP G G T TCGA-HT-7608-01 TCGA-HT-7608-10 Untested Somatic Phase_I WXS none Illumina GAIIx 78 24 ENST00000389253.4:c.1280G>T p.Cys427Phe p.C427F ENST00000389253 NM_001005361.2 427 tGt/tTt 0 0.517 AGTTTGAAGTGTGTTGATCTC AXL 558 hgsc.bcm.edu;broad.mit.edu GRCh37 19 41763470 41763470 + missense_variant Missense_Mutation SNP G G A TCGA-HT-7608-01 TCGA-HT-7608-10 Untested Somatic Phase_I WXS none Illumina GAIIx 116 6 ENST00000301178.4:c.2269G>A p.Glu757Lys p.E757K ENST00000301178 NM_021913.4 757 Gag/Aag 0 0.557 GGAGAACAGCGAGATTTATGA C1orf65 164127 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 223567391 223567391 + missense_variant Missense_Mutation SNP C C T TCGA-HT-7608-01 TCGA-HT-7608-10 Untested Somatic Phase_I WXS none Illumina GAIIx 82 64 ENST00000366875.3:c.574C>T p.Arg192Trp p.R192W ENST00000366875 NM_152610.2 192 Cgg/Tgg 0 0.597 TCCCTCGGAGCGGTCTTCTGT RIPK4 54101 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 21 43161859 43161859 + synonymous_variant Silent SNP G G A TCGA-HT-7608-01 TCGA-HT-7608-10 Untested Somatic Phase_I WXS none Illumina GAIIx 136 12 ENST00000332512.3:c.1494C>T p.Asn498= p.N498= ENST00000332512 NM_020639.2 498 aaC/aaT 0 0.632 CATCCTTGGCGTTGACACTGA TOP3B 8940 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 22 22322990 22322990 + splice_donor_variant Splice_Site SNP C C A TCGA-HT-7608-01 TCGA-HT-7608-10 Untested Somatic Phase_I WXS none Illumina GAIIx 76 22 ENST00000398793.2:c.738+1G>T p.X246_splice ENST00000398793 NM_003935.3 0 0.552 AGGCAAGGAACCTTGGCCTGC RASD2 23551 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 22 35947956 35947956 + synonymous_variant Silent SNP C C T rs144245051 TCGA-HT-7608-01 TCGA-HT-7608-10 Untested Somatic Phase_I WXS none Illumina GAIIx 52 24 ENST00000216127.4:c.678C>T p.Asp226= p.D226= ENST00000216127 NM_014310.3 226 gaC/gaT 0 0.642 AGGAGATGGACGCCTATGGCA IDH1 3417 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T rs121913500 TCGA-HT-7608-01 TCGA-HT-7608-10 Untested Somatic Phase_I WXS none Illumina GAIIx 79 43 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 0.393 ATAAGCATGACGACCTATGAT OTOP1 133060 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 4 4199681 4199681 + missense_variant Missense_Mutation SNP G G A TCGA-HT-7608-01 TCGA-HT-7608-10 Untested Somatic Phase_I WXS none Illumina GAIIx 91 38 ENST00000296358.4:c.880C>T p.Arg294Cys p.R294C ENST00000296358 NM_177998.1 294 Cgc/Tgc 0 0.567 TCAACTTTGCGCCCGATGTTC IL17F 112744 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 6 52103580 52103580 + missense_variant Missense_Mutation SNP C C T TCGA-HT-7608-01 TCGA-HT-7608-10 Untested Somatic Phase_I WXS none Illumina GAIIx 52 35 ENST00000336123.4:c.202G>A p.Val68Ile p.V68I ENST00000336123 NM_052872.3 68 Gtt/Att 0 0.448 GACATGGAAACGCGCTGGTTT AP1S1 1174 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 7 100799992 100799992 + missense_variant Missense_Mutation SNP G G C TCGA-HT-7608-01 TCGA-HT-7608-10 Untested Somatic Phase_I WXS none Illumina GAIIx 19 5 ENST00000337619.5:c.121G>C p.Ala41Pro p.A41P ENST00000337619 NM_001283.3 41 Gct/Cct 0 0.537 GGTTGTCCTGGCTCGAAAGCC TIGIT 201633 broad.mit.edu;ucsc.edu GRCh37 3 114026861 114026861 + synonymous_variant Silent SNP A A G TCGA-HT-7608-01 TCGA-HT-7608-10 Untested Somatic Phase_I WXS none Illumina GAIIx 91 45 ENST00000486257.1:c.618A>G p.Ala206= p.A206= ENST00000486257 206 gcA/gcG 0 0.572 CAGAAGCTGCACCTGCTGGGC LMNA 4000 broad.mit.edu;ucsc.edu GRCh37 1 156104684 156104684 + missense_variant Missense_Mutation SNP A A G TCGA-HT-7608-01 TCGA-HT-7608-10 Untested Somatic Phase_I WXS none Illumina GAIIx 85 20 ENST00000368300.4:c.728A>G p.Asp243Gly p.D243G ENST00000368300 NM_170707.3 243 gAt/gGt 0 0.582 CGGCTGGCGGATGCGCTGCAG FUBP1 8880 broad.mit.edu;hgsc.bcm.edu GRCh37 1 78422268 78422269 + frameshift_variant Frame_Shift_Ins INS - - T TCGA-HT-7608-01 TCGA-HT-7608-10 Untested Somatic Phase_I WXS none Illumina GAIIx 41 54 ENST00000370768.2:c.1693dupA p.Thr565AsnfsTer2 p.T565Nfs*2 ENST00000370768 NM_003902.3 565 act/aAct 0 0.406 TTGTCCATTAGTTTGAGTTGTA CIC 23152 broad.mit.edu GRCh37 19 42792020 42792021 + frameshift_variant Frame_Shift_Del DEL AG AG - TCGA-HT-7608-01 TCGA-HT-7608-10 Untested Somatic Phase_I WXS none Illumina GAIIx 5 5 ENST00000575354.2:c.825_826delGA p.Lys276ValfsTer38 p.K276Vfs*38 ENST00000575354 NM_015125.3 275 aAG/a 0 0.649 AAGGACCGAAAGAAGTCCAGCT LRRC32 2615 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 11 76371010 76371010 + synonymous_variant Silent SNP G G A TCGA-P5-A5EW-01 TCGA-P5-A5EW-10 Untested Somatic Phase_I WXS none Illumina GAIIx 73 14 ENST00000407242.2:c.1627C>T p.Leu543= p.L543= ENST00000407242 NM_005512.2 543 Ctg/Ttg 0 0.637 TTGTTTCGCAGGTCCAGCACC TP53 7157 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 7577120 7577120 + missense_variant Missense_Mutation SNP C C T rs28934576 by1000genomes TCGA-P5-A5EW-01 TCGA-P5-A5EW-10 Untested Somatic Phase_I WXS none Illumina GAIIx 3 42 ENST00000269305.4:c.818G>A p.Arg273His p.R273H ENST00000269305 NM_001126112.2 273 cGt/cAt 0 0.542 GGCACAAACACGCACCTCAAA KRI1 65095 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 19 10668901 10668901 + synonymous_variant Silent SNP G G A TCGA-P5-A5EW-01 TCGA-P5-A5EW-10 Untested Somatic Phase_I WXS none Illumina GAIIx 79 23 ENST00000312962.6:c.1227C>T p.Asp409= p.D409= ENST00000312962 NM_023008.3 409 gaC/gaT 0 0.602 CGTAGTACTCGTCCCCAAAGC CCDC105 126402 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 19 15133702 15133702 + missense_variant Missense_Mutation SNP G G T TCGA-P5-A5EW-01 TCGA-P5-A5EW-10 Untested Somatic Phase_I WXS none Illumina GAIIx 16 9 ENST00000292574.3:c.1271G>T p.Cys424Phe p.C424F ENST00000292574 NM_173482.2 424 tGc/tTc 0 0.617 AAGCTGCAGTGCCACATCACG TMCC2 9911 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 205210633 205210633 + missense_variant,splice_region_variant Missense_Mutation SNP A A G TCGA-P5-A5EW-01 TCGA-P5-A5EW-10 Untested Somatic Phase_I WXS none Illumina GAIIx 38 40 ENST00000358024.3:c.208A>G p.Lys70Glu p.K70E ENST00000358024 NM_014858.3 70 Aaa/Gaa 0 0.557 CCCCCTTAAGAAAATCCAGCA OR2B11 127623 hgsc.bcm.edu;broad.mit.edu GRCh37 1 247614765 247614765 + missense_variant Missense_Mutation SNP C C T TCGA-P5-A5EW-01 TCGA-P5-A5EW-10 Untested Somatic Phase_I WXS none Illumina GAIIx 54 4 ENST00000318749.6:c.520G>A p.Gly174Arg p.G174R ENST00000318749 NM_001004492.1 174 Ggg/Agg 0 0.597 ACCTGCCGCCCGCAGAATGGC IDH1 3417 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T rs121913500 TCGA-P5-A5EW-01 TCGA-P5-A5EW-10 Untested Somatic Phase_I WXS none Illumina GAIIx 31 26 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 0.393 ATAAGCATGACGACCTATGAT CDCP1 64866 hgsc.bcm.edu;broad.mit.edu GRCh37 3 45127212 45127212 + missense_variant Missense_Mutation SNP T T C TCGA-P5-A5EW-01 TCGA-P5-A5EW-10 Untested Somatic Phase_I WXS none Illumina GAIIx 144 12 ENST00000296129.1:c.2429A>G p.His810Arg p.H810R ENST00000296129 NM_022842.4 810 cAt/cGt 0 0.552 ATTGTTGGGATGGGAGAAGGT PCDHGA1 56114 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 5 140711256 140711256 + synonymous_variant Silent SNP C C A TCGA-P5-A5EW-01 TCGA-P5-A5EW-10 Untested Somatic Phase_I WXS none Illumina GAIIx 62 35 ENST00000517417.1:c.1005C>A p.Ile335= p.I335= ENST00000517417 NM_018912.2 335 atC/atA 0 0.418 AGGTACTGATCAAAGTTTTGG GABRP 2568 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 5 170236583 170236583 + missense_variant Missense_Mutation SNP G G A TCGA-P5-A5EW-01 TCGA-P5-A5EW-10 Untested Somatic Phase_I WXS none Illumina GAIIx 91 83 ENST00000518525.1:c.844G>A p.Val282Met p.V282M ENST00000518525 282 Gtg/Atg 0 0.517 AGTGACGACCGTGTTATCAAT FBXL6 26233 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 8 145580132 145580132 + synonymous_variant Silent SNP G G A TCGA-P5-A5EW-01 TCGA-P5-A5EW-10 Untested Somatic Phase_I WXS none Illumina GAIIx 61 59 ENST00000331890.5:c.1053C>T p.Pro351= p.P351= ENST00000331890 NM_012162.3 351 ccC/ccT 0 0.652 AGCCTGGTCCGGGAGCCACCC OPHN1 4983 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 67413796 67413796 + splice_acceptor_variant Splice_Site SNP T T C TCGA-P5-A5EW-01 TCGA-P5-A5EW-10 Untested Somatic Phase_I WXS none Illumina GAIIx 34 15 ENST00000355520.5:c.1139-2A>G p.X380_splice ENST00000355520 NM_002547.2 0 0.408 TTAGCTCCACTGTTTCAAGCA RGPD3 653489 broad.mit.edu;ucsc.edu GRCh37 2 107029596 107029596 + missense_variant Missense_Mutation SNP T T C TCGA-P5-A5EW-01 TCGA-P5-A5EW-10 Untested Somatic Phase_I WXS none Illumina GAIIx 9 81 ENST00000409886.3:c.5210A>G p.Asn1737Ser p.N1737S ENST00000409886 NM_001144013.1 1737 aAt/aGt 0 0.438 CAACATCGTATTTATAACAGG CYP39A1 51302 broad.mit.edu;ucsc.edu GRCh37 6 46518143 46518143 + missense_variant Missense_Mutation SNP G G A TCGA-P5-A5EW-01 TCGA-P5-A5EW-10 Untested Somatic Phase_I WXS none Illumina GAIIx 42 19 ENST00000275016.2:c.1370C>T p.Pro457Leu p.P457L ENST00000275016 NM_001278739.1 457 cCg/cTg 0 0.458 TTGCCCTTCCGGCTGGGGGAC ATRX 546 broad.mit.edu;hgsc.bcm.edu GRCh37 X 76939758 76939762 + frameshift_variant Frame_Shift_Del DEL TTTCT TTTCT - TCGA-P5-A5EW-01 TCGA-P5-A5EW-10 Untested Somatic Phase_I WXS none Illumina GAIIx 37 23 ENST00000373344.5:c.986_990delAGAAA p.Lys329IlefsTer3 p.K329Ifs*3 ENST00000373344 NM_000489.3 329 aAGAAA/a 0 0.341 AATCATCTAATTTCTTTTCTTCTCC MAGEA6 4105 broad.mit.edu;hgsc.bcm.edu GRCh37 X 151870011 151870011 + frameshift_variant Frame_Shift_Del DEL G G - TCGA-P5-A5EW-01 TCGA-P5-A5EW-10 Untested Somatic Phase_I WXS none Illumina GAIIx 219 144 ENST00000329342.5:c.703delG p.Glu235LysfsTer50 p.E235Kfs*50 ENST00000329342 NM_005363.2 234 aGg/ag 0 0.532 TTTGAGGGGAGGGAAGACAGT ADARB2 105 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 10 1779285 1779285 + missense_variant Missense_Mutation SNP G G C TCGA-FG-8185-01 TCGA-FG-8185-10 Untested Somatic Phase_I WXS none Illumina GAIIx 328 55 ENST00000381312.1:c.60C>G p.Cys20Trp p.C20W ENST00000381312 NM_018702.3 20 tgC/tgG 0 0.701 TCTTGGACTTGCATTTGAGTT SLC17A6 57084 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 11 22360149 22360149 + missense_variant Missense_Mutation SNP C C G TCGA-FG-8185-01 TCGA-FG-8185-10 Untested Somatic Phase_I WXS none Illumina GAIIx 31 9 ENST00000263160.3:c.70C>G p.Leu24Val p.L24V ENST00000263160 NM_020346.2 24 Ctc/Gtc 0 0.473 TGGAAAATCACTCGGCCAGAT OR5D14 219436 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 11 55563737 55563737 + missense_variant Missense_Mutation SNP C C T rs145440752 byFrequency TCGA-FG-8185-01 TCGA-FG-8185-10 Untested Somatic Phase_I WXS none Illumina GAIIx 63 35 ENST00000335605.1:c.706C>T p.Arg236Cys p.R236C ENST00000335605 NM_001004735.1 236 Cgc/Tgc 0 0.463 TGTTAGTGGGCGCCACAAAGC MMP20 9313 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 11 102465488 102465488 + splice_region_variant,synonymous_variant Splice_Region SNP C C G TCGA-FG-8185-01 TCGA-FG-8185-10 Untested Somatic Phase_I WXS none Illumina GAIIx 24 16 ENST00000260228.2:c.954G>C p.Arg318= p.R318= ENST00000260228 NM_004771.3 318 cgG/cgC 0 0.418 TCCAGAAAATCCTATGGGACA MDM2 4193 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 12 69230521 69230521 + missense_variant Missense_Mutation SNP T T C TCGA-FG-8185-01 TCGA-FG-8185-10 Untested Somatic Phase_I WXS none Illumina GAIIx 52 28 ENST00000462284.1:c.910T>C p.Ser304Pro p.S304P ENST00000462284 NM_002392.5 304 Tcc/Ccc 0 0.308 TCCTGAAATTTCCTTAGCTGT GALC 2581 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 14 88454494 88454494 + missense_variant Missense_Mutation SNP T T A TCGA-FG-8185-01 TCGA-FG-8185-10 Untested Somatic Phase_I WXS none Illumina GAIIx 41 18 ENST00000261304.2:c.322A>T p.Thr108Ser p.T108S ENST00000261304 NM_000153.3 108 Aca/Tca 0 0.358 CTACCTGTTGTCTGCCCATCA LIPC 3990 hgsc.bcm.edu;broad.mit.edu GRCh37 15 58855814 58855814 + missense_variant Missense_Mutation SNP C C T TCGA-FG-8185-01 TCGA-FG-8185-10 Untested Somatic Phase_I WXS none Illumina GAIIx 95 7 ENST00000356113.6:c.1280C>T p.Ala427Val p.A427V ENST00000356113 427 gCc/gTc 0 0.507 GCAGTGTGGGCCAATGTCTGG LINS 55180 hgsc.bcm.edu;broad.mit.edu GRCh37 15 101109585 101109585 + missense_variant Missense_Mutation SNP C C G rs148450316 TCGA-FG-8185-01 TCGA-FG-8185-10 Untested Somatic Phase_I WXS none Illumina GAIIx 100 6 ENST00000314742.8:c.2132G>C p.Arg711Thr p.R711T ENST00000314742 NM_001040616.2 711 aGa/aCa 0 0.383 TTTTACTATTCTGTAAAATAT ANKRD11 29123 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 16 89351668 89351668 + missense_variant Missense_Mutation SNP G G C TCGA-FG-8185-01 TCGA-FG-8185-10 Untested Somatic Phase_I WXS none Illumina GAIIx 147 11 ENST00000301030.4:c.1282C>G p.Leu428Val p.L428V ENST00000301030 NM_001256183.1 428 Ctc/Gtc 0 0.488 TGTGCCGAGAGTCTCAGCTTC TP53 7157 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 7578203 7578203 + missense_variant Missense_Mutation SNP C C A TCGA-FG-8185-01 TCGA-FG-8185-10 Untested Somatic Phase_I WXS none Illumina GAIIx 33 28 ENST00000269305.4:c.646G>T p.Val216Leu p.V216L ENST00000269305 NM_001126112.2 216 Gtg/Ttg 0 0.537 GGCACCACCACACTATGTCGA TP53 7157 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 7578265 7578265 + missense_variant Missense_Mutation SNP A A T TCGA-FG-8185-01 TCGA-FG-8185-10 Untested Somatic Phase_I WXS none Illumina GAIIx 56 38 ENST00000269305.4:c.584T>A p.Ile195Asn p.I195N ENST00000269305 NM_001126112.2 195 aTc/aAc 0 0.552 TTCCACTCGGATAAGATGCTG EFCAB5 374786 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 28409944 28409944 + synonymous_variant Silent SNP C C T TCGA-FG-8185-01 TCGA-FG-8185-10 Untested Somatic Phase_I WXS none Illumina GAIIx 206 34 ENST00000394835.3:c.3462C>T p.Tyr1154= p.Y1154= ENST00000394835 NM_198529.3 1154 taC/taT 0 0.398 CCTATCACTACGTCCACAGCC CCL11 6356 hgsc.bcm.edu;broad.mit.edu GRCh37 17 32612839 32612839 + synonymous_variant Silent SNP C C T TCGA-FG-8185-01 TCGA-FG-8185-10 Untested Somatic Phase_I WXS none Illumina GAIIx 248 14 ENST00000305869.3:c.12C>T p.Ser4= p.S4= ENST00000305869 NM_002986.2 4 tcC/tcT 0 0.597 TGAAGGTCTCCGCAGCACTTC LAMA1 284217 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 18 7023260 7023260 + synonymous_variant Silent SNP C C A TCGA-FG-8185-01 TCGA-FG-8185-10 Untested Somatic Phase_I WXS none Illumina GAIIx 43 34 ENST00000389658.3:c.2604G>T p.Gly868= p.G868= ENST00000389658 NM_005559.3 868 ggG/ggT 0 0.602 TCAGGCACTCCCCGGTGACTG STARD6 147323 hgsc.bcm.edu;broad.mit.edu GRCh37 18 51858176 51858176 + synonymous_variant Silent SNP G G A TCGA-FG-8185-01 TCGA-FG-8185-10 Untested Somatic Phase_I WXS none Illumina GAIIx 70 4 ENST00000581310.1:c.321C>T p.Ser107= p.S107= ENST00000581310 107 tcC/tcT 0 0.368 AGTCTCGAGGGGAAATGGAGC TSHZ1 10194 hgsc.bcm.edu;broad.mit.edu GRCh37 18 72999933 72999933 + synonymous_variant Silent SNP G G A TCGA-FG-8185-01 TCGA-FG-8185-10 Untested Somatic Phase_I WXS none Illumina GAIIx 63 4 ENST00000322038.5:c.2436G>A p.Thr812= p.T812= ENST00000322038 NM_005786.5 812 acG/acA 0 0.602 AGTCCTCCACGCCCTCCACAG CSNK1G2 1455 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 19 1979554 1979554 + missense_variant Missense_Mutation SNP A A G TCGA-FG-8185-01 TCGA-FG-8185-10 Untested Somatic Phase_I WXS none Illumina GAIIx 52 42 ENST00000255641.8:c.914A>G p.Tyr305Cys p.Y305C ENST00000255641 NM_001319.6 305 tAt/tGt 0 0.652 AAGCCCGACTATGACTACCTG ICAM1 3383 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 19 10394873 10394873 + missense_variant Missense_Mutation SNP G G A TCGA-FG-8185-01 TCGA-FG-8185-10 Untested Somatic Phase_I WXS none Illumina GAIIx 50 30 ENST00000264832.3:c.802G>A p.Asp268Asn p.D268N ENST00000264832 NM_000201.2 268 Gac/Aac 0 0.632 CTATGGCAACGACTCCTTCTC AKAP8 10270 hgsc.bcm.edu;broad.mit.edu GRCh37 19 15472624 15472624 + missense_variant Missense_Mutation SNP C C G TCGA-FG-8185-01 TCGA-FG-8185-10 Untested Somatic Phase_I WXS none Illumina GAIIx 34 3 ENST00000269701.2:c.1312G>C p.Val438Leu p.V438L ENST00000269701 NM_005858.3 438 Gta/Cta 0 0.458 TTTCTGTTTACAATGTATTCC ADCK4 79934 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 19 41197999 41197999 + missense_variant Missense_Mutation SNP C C G TCGA-FG-8185-01 TCGA-FG-8185-10 Untested Somatic Phase_I WXS none Illumina GAIIx 25 18 ENST00000324464.3:c.1576G>C p.Asp526His p.D526H ENST00000324464 NM_024876.3 526 Gac/Cac 0 0.672 GTGGCTGCGTCTGGCTGGCGA ZNF460 10794 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 19 57802257 57802257 + missense_variant Missense_Mutation SNP G G C TCGA-FG-8185-01 TCGA-FG-8185-10 Untested Somatic Phase_I WXS none Illumina GAIIx 65 38 ENST00000360338.3:c.348G>C p.Glu116Asp p.E116D ENST00000360338 NM_006635.3 116 gaG/gaC 0 0.473 CACAGAGTGAGAAACTCCATG TCHH 7062 hgsc.bcm.edu;broad.mit.edu GRCh37 1 152084077 152084077 + missense_variant Missense_Mutation SNP C C G TCGA-FG-8185-01 TCGA-FG-8185-10 Untested Somatic Phase_I WXS none Illumina GAIIx 290 17 ENST00000368804.1:c.1616G>C p.Arg539Thr p.R539T ENST00000368804 NM_007113.3 539 aGa/aCa 0 0.652 CTGCTCGCGTCTTAGTTGTTG LAMC1 3915 hgsc.bcm.edu;broad.mit.edu GRCh37 1 183086809 183086809 + missense_variant Missense_Mutation SNP G G A TCGA-FG-8185-01 TCGA-FG-8185-10 Untested Somatic Phase_I WXS none Illumina GAIIx 91 5 ENST00000258341.4:c.1828G>A p.Ala610Thr p.A610T ENST00000258341 NM_002293.3 610 Gct/Act 0 0.483 ACCCTTGATCGCTCAGGGCAA MIA3 375056 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 222803484 222803484 + synonymous_variant Silent SNP C C G TCGA-FG-8185-01 TCGA-FG-8185-10 Untested Somatic Phase_I WXS none Illumina GAIIx 28 21 ENST00000344922.5:c.2922C>G p.Val974= p.V974= ENST00000344922 NM_198551.2 974 gtC/gtG 0 0.428 TGGAAAAAGTCCTAGATAAGG MYH7B 57644 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 20 33567544 33567544 + synonymous_variant Silent SNP G G A TCGA-FG-8185-01 TCGA-FG-8185-10 Untested Somatic Phase_I WXS none Illumina GAIIx 90 54 ENST00000262873.7:c.405G>A p.Thr135= p.T135= ENST00000262873 NM_020884.3 135 acG/acA 0 0.637 CCATGATGACGCACCTGAACG KCNB1 3745 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 20 48098819 48098819 + missense_variant Missense_Mutation SNP C C G TCGA-FG-8185-01 TCGA-FG-8185-10 Untested Somatic Phase_I WXS none Illumina GAIIx 51 7 ENST00000371741.4:c.199G>C p.Asp67His p.D67H ENST00000371741 NM_004975.2 67 Gac/Cac 0 0.662 AGCAGCGAGTCGTGCGTGTTG APOB 338 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 21228306 21228306 + missense_variant Missense_Mutation SNP C C G TCGA-FG-8185-01 TCGA-FG-8185-10 Untested Somatic Phase_I WXS none Illumina GAIIx 91 77 ENST00000233242.1:c.11434G>C p.Glu3812Gln p.E3812Q ENST00000233242 NM_000384.2 3812 Gag/Cag 0 0.423 ACGGTTATCTCAAAAAAGGGA IDH1 3417 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 209113113 209113113 + missense_variant Missense_Mutation SNP G G A rs121913499 TCGA-FG-8185-01 TCGA-FG-8185-10 Untested Somatic Phase_I WXS none Illumina GAIIx 50 32 ENST00000345146.2:c.394C>T p.Arg132Cys p.R132C ENST00000345146 NM_005896.2 132 Cgt/Tgt 0 0.398 TAAGCATGACGACCTATGATG VHL 7428 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 3 10191622 10191622 + synonymous_variant Silent SNP C C T TCGA-FG-8185-01 TCGA-FG-8185-10 Untested Somatic Phase_I WXS none Illumina GAIIx 19 16 ENST00000256474.2:c.615C>T p.Arg205= p.R205= ENST00000256474 NM_000551.3 205 cgC/cgT 0 0.468 CACAGGAGCGCATTGCACATC MED23 9439 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 6 131929091 131929091 + missense_variant Missense_Mutation SNP C C T TCGA-FG-8185-01 TCGA-FG-8185-10 Untested Somatic Phase_I WXS none Illumina GAIIx 23 17 ENST00000368068.3:c.1198G>A p.Asp400Asn p.D400N ENST00000368068 NM_004830.3 400 Gac/Aac 0 0.343 TATAGCAAGTCGAAGAGCTTC RBAK 57786 hgsc.bcm.edu;ucsc.edu GRCh37 7 5104674 5104674 + missense_variant Missense_Mutation SNP C C G TCGA-FG-8185-01 TCGA-FG-8185-10 Untested Somatic Phase_I WXS none Illumina GAIIx 61 22 ENST00000396912.1:c.1587C>G p.His529Gln p.H529Q ENST00000396912 NM_021163.3 529 caC/caG 0 0.383 TCGATGGGCACCAGCCACTTC HEPACAM2 253012 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 7 92838050 92838050 + missense_variant Missense_Mutation SNP C C G TCGA-FG-8185-01 TCGA-FG-8185-10 Untested Somatic Phase_I WXS none Illumina GAIIx 24 32 ENST00000394468.2:c.855G>C p.Arg285Ser p.R285S ENST00000394468 NM_001039372.1 285 agG/agC 0 0.443 TATTGTCAGTCCTCCTAATCC KIAA1429 25962 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 8 95530133 95530133 + missense_variant Missense_Mutation SNP C C T TCGA-FG-8185-01 TCGA-FG-8185-10 Untested Somatic Phase_I WXS none Illumina GAIIx 16 12 ENST00000297591.5:c.2551G>A p.Ala851Thr p.A851T ENST00000297591 NM_015496.4 851 Gca/Aca 0 0.318 AGTATGCATGCGTAATTATAA SVEP1 79987 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 9 113139603 113139603 + synonymous_variant Silent SNP G G C TCGA-FG-8185-01 TCGA-FG-8185-10 Untested Somatic Phase_I WXS none Illumina GAIIx 79 35 ENST00000401783.2:c.10452C>G p.Arg3484= p.R3484= ENST00000401783 NM_153366.3 3484 cgC/cgG 0 0.502 AAGCATTTGGGCGTTGGCAGA CACNA1B 774 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 9 140946550 140946550 + synonymous_variant Silent SNP C C G TCGA-FG-8185-01 TCGA-FG-8185-10 Untested Somatic Phase_I WXS none Illumina GAIIx 17 9 ENST00000371372.1:c.3717C>G p.Ser1239= p.S1239= ENST00000371372 NM_001243812.1 1239 tcC/tcG 0 0.582 CTAGAGGATCCAAAGGGAAAG AMPD1 270 broad.mit.edu;ucsc.edu GRCh37 1 115216305 115216305 + synonymous_variant Silent SNP G G A TCGA-FG-8185-01 TCGA-FG-8185-10 Untested Somatic Phase_I WXS none Illumina GAIIx 42 40 ENST00000520113.2:c.2139C>T p.Cys713= p.C713= ENST00000520113 713 tgC/tgT 0 0.438 TTGCCACTTCGCACATATCAC FRMD7 90167 broad.mit.edu;ucsc.edu GRCh37 X 131214292 131214292 + missense_variant,splice_region_variant Missense_Mutation SNP C C G TCGA-FG-8185-01 TCGA-FG-8185-10 Untested Somatic Phase_I WXS none Illumina GAIIx 13 3 ENST00000298542.4:c.908G>C p.Gly303Ala p.G303A ENST00000298542 NM_194277.2 303 gGa/gCa 0 0.373 TTGGGTTCGTCCACTATCATA MMP24 10893 broad.mit.edu;ucsc.edu GRCh37 20 33862232 33862232 + synonymous_variant Silent SNP C C T TCGA-FG-8185-01 TCGA-FG-8185-10 Untested Somatic Phase_I WXS none Illumina GAIIx 135 90 ENST00000246186.6:c.1758C>T p.Asp586= p.D586= ENST00000246186 NM_006690.3 586 gaC/gaT 0 0.657 CCCAGGACGACGTGGACATCA GABRG2 2566 broad.mit.edu;ucsc.edu GRCh37 5 161569181 161569181 + missense_variant Missense_Mutation SNP G G T TCGA-FG-8185-01 TCGA-FG-8185-10 Untested Somatic Phase_I WXS none Illumina GAIIx 92 36 ENST00000414552.2:c.901G>T p.Val301Phe p.V301F ENST00000414552 NM_198903.2 301 Gtc/Ttc 0 0.403 AGATTATGTGGTCATGTCTGT TFPT 29844 broad.mit.edu;hgsc.bcm.edu GRCh37 19 54611378 54611379 + frameshift_variant Frame_Shift_Ins INS - - CCATC TCGA-FG-8185-01 TCGA-FG-8185-10 Untested Somatic Phase_I WXS none Illumina GAIIx 152 30 ENST00000391759.1:c.592_596dupGATGG p.Arg200MetfsTer9 p.R200Mfs*9 ENST00000391759 NM_013342.3 199 gga/ggGATGGa 0 0.713 CTGCTCGGCGTCCATCCCGTGG ATRX 546 broad.mit.edu;hgsc.bcm.edu GRCh37 X 76939914 76939915 + frameshift_variant Frame_Shift_Del DEL AG AG - TCGA-FG-8185-01 TCGA-FG-8185-10 Untested Somatic Phase_I WXS none Illumina GAIIx 21 70 ENST00000373344.5:c.833_834delCT p.Thr278SerfsTer3 p.T278Sfs*3 ENST00000373344 NM_000489.3 278 aCT/a 0 0.371 TGTTACATGCAGTGACCAAGTC MYO3A 53904 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 10 26463288 26463288 + missense_variant Missense_Mutation SNP G G T TCGA-HT-7688-01 TCGA-HT-7688-10 Untested Somatic Phase_I WXS none Illumina GAIIx 118 21 ENST00000265944.5:c.4095G>T p.Gln1365His p.Q1365H ENST00000265944 NM_017433.4 1365 caG/caT 0 0.438 GAAGGCAGCAGTTGAGGAAGG CYP2C19 1557 hgsc.bcm.edu;broad.mit.edu GRCh37 10 96535297 96535297 + splice_donor_variant Splice_Site SNP G G C rs77576043 TCGA-HT-7688-01 TCGA-HT-7688-10 Untested Somatic Phase_I WXS none Illumina GAIIx 184 11 ENST00000371321.3:c.481+1G>C p.X161_splice ENST00000371321 NM_000769.1 0 0.498 AAAACCAAGGGTGGGTGAACA WDR96 80217 hgsc.bcm.edu;broad.mit.edu GRCh37 10 105990460 105990460 + synonymous_variant Silent SNP G G A TCGA-HT-7688-01 TCGA-HT-7688-10 Untested Somatic Phase_I WXS none Illumina GAIIx 87 5 ENST00000357060.3:c.207C>T p.Gly69= p.G69= ENST00000357060 NM_025145.5 69 ggC/ggT 0 0.408 TTGCCATGACGCCCACAATTC DCHS1 8642 hgsc.bcm.edu;broad.mit.edu GRCh37 11 6645159 6645159 + missense_variant Missense_Mutation SNP C C G TCGA-HT-7688-01 TCGA-HT-7688-10 Untested Somatic Phase_I WXS none Illumina GAIIx 185 10 ENST00000299441.3:c.7748G>C p.Ser2583Thr p.S2583T ENST00000299441 NM_003737.2 2583 aGc/aCc 0 0.537 CACGACTGAGCTTTGGGGTGG DCHS1 8642 hgsc.bcm.edu;broad.mit.edu GRCh37 11 6645181 6645181 + missense_variant Missense_Mutation SNP C C G TCGA-HT-7688-01 TCGA-HT-7688-10 Untested Somatic Phase_I WXS none Illumina GAIIx 119 6 ENST00000299441.3:c.7726G>C p.Asp2576His p.D2576H ENST00000299441 NM_003737.2 2576 Gac/Cac 0 0.562 TGCCCACGGTCAGCTGCAGCC RPUSD4 84881 hgsc.bcm.edu;broad.mit.edu GRCh37 11 126075477 126075477 + missense_variant Missense_Mutation SNP C C T rs143531642 TCGA-HT-7688-01 TCGA-HT-7688-10 Untested Somatic Phase_I WXS none Illumina GAIIx 121 9 ENST00000298317.4:c.682G>A p.Asp228Asn p.D228N ENST00000298317 NM_032795.2 228 Gat/Aat 0 0.557 ATTTTCCCATCGTCCATGCGG CUL4A 8451 hgsc.bcm.edu;broad.mit.edu GRCh37 13 113891149 113891149 + synonymous_variant Silent SNP T T C TCGA-HT-7688-01 TCGA-HT-7688-10 Untested Somatic Phase_I WXS none Illumina GAIIx 70 4 ENST00000375440.4:c.861T>C p.Ile287= p.I287= ENST00000375440 NM_001008895.2 287 atT/atC 0 0.358 AACCACTGATTGCTTGTGTGG SUPT16H 11198 hgsc.bcm.edu;broad.mit.edu GRCh37 14 21838616 21838616 + missense_variant Missense_Mutation SNP A A G TCGA-HT-7688-01 TCGA-HT-7688-10 Untested Somatic Phase_I WXS none Illumina GAIIx 62 4 ENST00000216297.2:c.362T>C p.Met121Thr p.M121T ENST00000216297 NM_007192.3 121 aTg/aCg 0 0.383 GGCTTCAATCATTTTGTCAAA CHD8 57680 hgsc.bcm.edu;broad.mit.edu GRCh37 14 21861840 21861840 + synonymous_variant Silent SNP T T G TCGA-HT-7688-01 TCGA-HT-7688-10 Untested Somatic Phase_I WXS none Illumina GAIIx 60 5 ENST00000399982.2:c.6114A>C p.Pro2038= p.P2038= ENST00000399982 NM_001170629.1 2038 ccA/ccC 0 0.547 CATAGTCTTGTGGGGTTGGTC TRIM9 114088 hgsc.bcm.edu;broad.mit.edu GRCh37 14 51446210 51446210 + synonymous_variant Silent SNP T T C TCGA-HT-7688-01 TCGA-HT-7688-10 Untested Somatic Phase_I WXS none Illumina GAIIx 222 13 ENST00000298355.3:c.1965A>G p.Arg655= p.R655= ENST00000298355 NM_015163.5 655 agA/agG 0 0.453 TCAAGTTTTTTCTATTTAAGT GATM 2628 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 15 45658331 45658331 + synonymous_variant Silent SNP T T C TCGA-HT-7688-01 TCGA-HT-7688-10 Untested Somatic Phase_I WXS none Illumina GAIIx 68 23 ENST00000396659.3:c.891A>G p.Lys297= p.K297= ENST00000396659 NM_001482.2 297 aaA/aaG 0 0.428 GATTGGGATCTTTAAAGGAGA SEMA6D 80031 hgsc.bcm.edu;broad.mit.edu GRCh37 15 48052514 48052514 + stop_gained Nonsense_Mutation SNP T T A TCGA-HT-7688-01 TCGA-HT-7688-10 Untested Somatic Phase_I WXS none Illumina GAIIx 59 3 ENST00000316364.5:c.123T>A p.Tyr41Ter p.Y41* ENST00000316364 NM_153618.1 41 taT/taA 0 0.418 CAAGGCAATATCCGGTTTTTA PDE8A 5151 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 15 85619979 85619979 + missense_variant Missense_Mutation SNP G G C TCGA-HT-7688-01 TCGA-HT-7688-10 Untested Somatic Phase_I WXS none Illumina GAIIx 150 14 ENST00000310298.4:c.507G>C p.Glu169Asp p.E169D ENST00000310298 169 gaG/gaC 0 0.294 ATAGAGAAGAGTTGTCCGTAA TP53 7157 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 7578394 7578394 + missense_variant Missense_Mutation SNP T T C TCGA-HT-7688-01 TCGA-HT-7688-10 Untested Somatic Phase_I WXS none Illumina GAIIx 50 65 ENST00000269305.4:c.536A>G p.His179Arg p.H179R ENST00000269305 NM_001126112.2 179 cAt/cGt 0 0.642 GCAGCGCTCATGGTGGGGGCA ZNF207 7756 hgsc.bcm.edu;broad.mit.edu GRCh37 17 30696691 30696691 + synonymous_variant Silent SNP G G A TCGA-HT-7688-01 TCGA-HT-7688-10 Untested Somatic Phase_I WXS none Illumina GAIIx 65 7 ENST00000394670.4:c.1398G>A p.Pro466= p.P466= ENST00000394670 NM_001098507.1 466 ccG/ccA 0 0.527 GGCAGGGACCGCCAATGGTGC CCR7 1236 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 38715155 38715155 + missense_variant Missense_Mutation SNP A A G TCGA-HT-7688-01 TCGA-HT-7688-10 Untested Somatic Phase_I WXS none Illumina GAIIx 61 7 ENST00000246657.2:c.50T>C p.Val17Ala p.V17A ENST00000246657 NM_001838.3 17 gTc/gCc 0 0.498 CTGGAAAATGACAAGGAGAGC C17orf47 5414 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 56620229 56620229 + missense_variant Missense_Mutation SNP C C T TCGA-HT-7688-01 TCGA-HT-7688-10 Untested Somatic Phase_I WXS none Illumina GAIIx 89 48 ENST00000321691.3:c.1319G>A p.Ser440Asn p.S440N ENST00000321691 NM_001038704.2 440 aGc/aAc 0 0.507 TGTCAGCTGGCTTTGGGGTGT ABCA6 23460 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 67080574 67080574 + missense_variant,splice_region_variant Missense_Mutation SNP T T C TCGA-HT-7688-01 TCGA-HT-7688-10 Untested Somatic Phase_I WXS none Illumina GAIIx 387 159 ENST00000284425.2:c.4259A>G p.Lys1420Arg p.K1420R ENST00000284425 NM_080284.2 1420 aAg/aGg 0 0.453 CGCACGTACCTTTCTCGTGAT SLC26A11 284129 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 78199637 78199637 + missense_variant,splice_region_variant Missense_Mutation SNP A A G TCGA-HT-7688-01 TCGA-HT-7688-10 Untested Somatic Phase_I WXS none Illumina GAIIx 163 26 ENST00000361193.3:c.515A>G p.Asn172Ser p.N172S ENST00000361193 NM_001166347.1 172 aAc/aGc 0 0.587 TTTGGACAGAACCTGCTGGGA ASXL3 80816 hgsc.bcm.edu;broad.mit.edu GRCh37 18 31325552 31325552 + missense_variant Missense_Mutation SNP G G C TCGA-HT-7688-01 TCGA-HT-7688-10 Untested Somatic Phase_I WXS none Illumina GAIIx 116 5 ENST00000269197.5:c.5740G>C p.Asp1914His p.D1914H ENST00000269197 NM_030632.1 1914 Gac/Cac 0 0.532 ATTTCATGTTGACAAGAATGG MC4R 4160 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 18 58038877 58038877 + missense_variant Missense_Mutation SNP G G A TCGA-HT-7688-01 TCGA-HT-7688-10 Untested Somatic Phase_I WXS none Illumina GAIIx 61 11 ENST00000299766.3:c.706C>T p.Arg236Cys p.R236C ENST00000299766 NM_005912.2 236 Cgc/Tgc 0 0.517 GCACCTTGGCGGATGGCACCA KRI1 65095 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 19 10671046 10671046 + missense_variant Missense_Mutation SNP G G A TCGA-HT-7688-01 TCGA-HT-7688-10 Untested Somatic Phase_I WXS none Illumina GAIIx 57 7 ENST00000312962.6:c.760C>T p.Arg254Cys p.R254C ENST00000312962 NM_023008.3 254 Cgc/Tgc 0 0.552 tcctcATAGCGTTTGTTGAGG CYP4F22 126410 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 19 15651449 15651449 + missense_variant Missense_Mutation SNP G G A rs146265982 TCGA-HT-7688-01 TCGA-HT-7688-10 Untested Somatic Phase_I WXS none Illumina GAIIx 80 25 ENST00000269703.3:c.860G>A p.Arg287His p.R287H ENST00000269703 NM_173483.3 287 cGt/cAt 0 0.632 CGGGCACTGCGTCAGCAGGGG NPHS1 4868 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 19 36340183 36340183 + synonymous_variant Silent SNP G G A TCGA-HT-7688-01 TCGA-HT-7688-10 Untested Somatic Phase_I WXS none Illumina GAIIx 31 14 ENST00000378910.5:c.795C>T p.Cys265= p.C265= ENST00000378910 NM_004646.3 265 tgC/tgT 0 0.657 CTCGGGCCACGCACGGCAGCT SIPA1L3 23094 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 19 38643516 38643516 + synonymous_variant Silent SNP T T C TCGA-HT-7688-01 TCGA-HT-7688-10 Untested Somatic Phase_I WXS none Illumina GAIIx 202 47 ENST00000222345.6:c.3570T>C p.Asp1190= p.D1190= ENST00000222345 NM_015073.1 1190 gaT/gaC 0 0.617 TATCTCTTGATCCCCACTTCA ZNF17 7565 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 19 57932608 57932608 + missense_variant Missense_Mutation SNP A A G TCGA-HT-7688-01 TCGA-HT-7688-10 Untested Somatic Phase_I WXS none Illumina GAIIx 36 10 ENST00000601808.1:c.1748A>G p.Lys583Arg p.K583R ENST00000601808 NM_006959.2 583 aAa/aGa 0 0.428 AGAACTTACAAATGCAGCAAA TAS1R2 80834 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 19181078 19181078 + missense_variant Missense_Mutation SNP C C T TCGA-HT-7688-01 TCGA-HT-7688-10 Untested Somatic Phase_I WXS none Illumina GAIIx 54 15 ENST00000375371.3:c.886G>A p.Ala296Thr p.A296T ENST00000375371 NM_152232.2 296 Gcc/Acc 0 0.637 ATCCACACGGCGCCAGTGAAG SNRNP40 9410 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 31744294 31744294 + missense_variant Missense_Mutation SNP T T C TCGA-HT-7688-01 TCGA-HT-7688-10 Untested Somatic Phase_I WXS none Illumina GAIIx 63 7 ENST00000263694.4:c.707A>G p.Asp236Gly p.D236G ENST00000263694 NM_004814.2 236 gAt/gGt 0 0.448 AGTCACTGAATCTGCATGGCC RLF 6018 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 40702367 40702367 + missense_variant Missense_Mutation SNP C C G TCGA-HT-7688-01 TCGA-HT-7688-10 Untested Somatic Phase_I WXS none Illumina GAIIx 111 51 ENST00000372771.4:c.1993C>G p.Leu665Val p.L665V ENST00000372771 NM_012421.3 665 Ctg/Gtg 0 0.418 AGATTGCCACCTGCAAGACAG AGL 178 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 100353559 100353559 + missense_variant Missense_Mutation SNP G G A TCGA-HT-7688-01 TCGA-HT-7688-10 Untested Somatic Phase_I WXS none Illumina GAIIx 57 6 ENST00000294724.4:c.2707G>A p.Glu903Lys p.E903K ENST00000294724 NM_000028.2 903 Gag/Aag 0 0.373 AACTTTGGCTGAGCTAAATCA SYCP1 6847 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 115487052 115487052 + missense_variant Missense_Mutation SNP A A G TCGA-HT-7688-01 TCGA-HT-7688-10 Untested Somatic Phase_I WXS none Illumina GAIIx 31 4 ENST00000369522.3:c.2019A>G p.Ile673Met p.I673M ENST00000369522 NM_003176.2 673 atA/atG 0 0.279 ACAAAAAGATATCAGAAGAAA CD1E 913 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 158325321 158325321 + missense_variant Missense_Mutation SNP G G A rs142840776 TCGA-HT-7688-01 TCGA-HT-7688-10 Untested Somatic Phase_I WXS none Illumina GAIIx 48 7 ENST00000368167.3:c.587G>A p.Gly196Glu p.G196E ENST00000368167 NM_030893.3 196 gGg/gAg 0 0.473 TTTCTAGCGGGGCTCATGGAA SCYL3 57147 hgsc.bcm.edu;broad.mit.edu GRCh37 1 169823532 169823532 + missense_variant Missense_Mutation SNP A A G TCGA-HT-7688-01 TCGA-HT-7688-10 Untested Somatic Phase_I WXS none Illumina GAIIx 121 7 ENST00000367772.4:c.2048T>C p.Ile683Thr p.I683T ENST00000367772 NM_181093.3 683 aTt/aCt 0 0.393 AGAAGGCTTAATTTCTGGGAT MROH9 80133 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 170928725 170928725 + missense_variant Missense_Mutation SNP T T C TCGA-HT-7688-01 TCGA-HT-7688-10 Untested Somatic Phase_I WXS none Illumina GAIIx 55 8 ENST00000367759.4:c.275T>C p.Ile92Thr p.I92T ENST00000367759 NM_001163629.1 92 aTt/aCt 0 0.363 TATGAGTACATTGAGGACATG OR2M7 391196 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 248486965 248486965 + missense_variant Missense_Mutation SNP C C A TCGA-HT-7688-01 TCGA-HT-7688-10 Untested Somatic Phase_I WXS none Illumina GAIIx 71 8 ENST00000317965.2:c.906G>T p.Met302Ile p.M302I ENST00000317965 NM_001004691.1 302 atG/atT 0 0.403 CTAAGATTTTCATTAATGCTC TGM6 343641 hgsc.bcm.edu;broad.mit.edu GRCh37 20 2411182 2411182 + missense_variant Missense_Mutation SNP T T C TCGA-HT-7688-01 TCGA-HT-7688-10 Untested Somatic Phase_I WXS none Illumina GAIIx 63 4 ENST00000202625.2:c.1769T>C p.Val590Ala p.V590A ENST00000202625 NM_198994.2 590 gTc/gCc 0 0.458 ATGTGCCTTGTCACCAAAGGA TPX2 22974 hgsc.bcm.edu;broad.mit.edu GRCh37 20 30388772 30388772 + splice_acceptor_variant Splice_Site SNP G G C TCGA-HT-7688-01 TCGA-HT-7688-10 Untested Somatic Phase_I WXS none Illumina GAIIx 166 10 ENST00000300403.6:c.2134-1G>C p.X712_splice ENST00000300403 NM_012112.4 0 0.398 TTACTTTGCAGGTGCATAAGG EIF2AK3 9451 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 88913303 88913303 + missense_variant Missense_Mutation SNP T T C TCGA-HT-7688-01 TCGA-HT-7688-10 Untested Somatic Phase_I WXS none Illumina GAIIx 137 10 ENST00000303236.3:c.377A>G p.Lys126Arg p.K126R ENST00000303236 NM_004836.5 126 aAg/aGg 0 0.353 ATCCCACTGCTTTTTACCATG PTPN4 5775 hgsc.bcm.edu;broad.mit.edu GRCh37 2 120709680 120709680 + synonymous_variant Silent SNP A A G TCGA-HT-7688-01 TCGA-HT-7688-10 Untested Somatic Phase_I WXS none Illumina GAIIx 117 7 ENST00000263708.2:c.1788A>G p.Glu596= p.E596= ENST00000263708 NM_002830.3 596 gaA/gaG 0 0.403 ATTCTGGGGAACTCATGCTTC TTN 7273 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 179463964 179463964 + synonymous_variant Silent SNP G G A TCGA-HT-7688-01 TCGA-HT-7688-10 Untested Somatic Phase_I WXS none Illumina GAIIx 137 29 ENST00000589042.1:c.56556C>T p.Gly18852= p.G18852= ENST00000589042 NM_001267550.1 18852 ggC/ggT 0 0.428 CATATTCATGGCCTTCTAGCA IDH1 3417 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T rs121913500 TCGA-HT-7688-01 TCGA-HT-7688-10 Untested Somatic Phase_I WXS none Illumina GAIIx 73 26 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 0.393 ATAAGCATGACGACCTATGAT NEK4 6787 hgsc.bcm.edu;broad.mit.edu GRCh37 3 52802575 52802575 + missense_variant Missense_Mutation SNP G G A TCGA-HT-7688-01 TCGA-HT-7688-10 Untested Somatic Phase_I WXS none Illumina GAIIx 127 7 ENST00000233027.5:c.139C>T p.Arg47Trp p.R47W ENST00000233027 NM_001193533.1 47 Cgg/Tgg 0 0.453 GCAGCTCGCCGCTCTCGGCTA CWH43 80157 hgsc.bcm.edu;broad.mit.edu GRCh37 4 49000535 49000535 + missense_variant Missense_Mutation SNP C C G TCGA-HT-7688-01 TCGA-HT-7688-10 Untested Somatic Phase_I WXS none Illumina GAIIx 152 11 ENST00000226432.4:c.772C>G p.Arg258Gly p.R258G ENST00000226432 NM_025087.2 258 Cgt/Ggt 0 0.443 TTTGTGGTTTCGTGGTACTGG KDR 3791 hgsc.bcm.edu;broad.mit.edu GRCh37 4 55981079 55981079 + missense_variant Missense_Mutation SNP T T C TCGA-HT-7688-01 TCGA-HT-7688-10 Untested Somatic Phase_I WXS none Illumina GAIIx 58 4 ENST00000263923.4:c.620A>G p.Glu207Gly p.E207G ENST00000263923 NM_002253.2 207 gAa/gGa 0 0.373 CTGGTAACTTTCATCATTAAT DNAH5 1767 hgsc.bcm.edu;broad.mit.edu GRCh37 5 13792273 13792273 + missense_variant Missense_Mutation SNP T T C TCGA-HT-7688-01 TCGA-HT-7688-10 Untested Somatic Phase_I WXS none Illumina GAIIx 70 4 ENST00000265104.4:c.8278A>G p.Arg2760Gly p.R2760G ENST00000265104 NM_001369.2 2760 Aga/Gga 0 0.423 ACAGAATCTCTCACTTCTTCT PDZD2 23037 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 5 32090257 32090257 + missense_variant Missense_Mutation SNP C C T rs147353592 TCGA-HT-7688-01 TCGA-HT-7688-10 Untested Somatic Phase_I WXS none Illumina GAIIx 491 48 ENST00000438447.1:c.6703C>T p.Arg2235Trp p.R2235W ENST00000438447 2235 Cgg/Tgg 0 0.632 CCATTTTGGACGGGAGGGTCA MAP1B 4131 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 5 71493611 71493611 + missense_variant Missense_Mutation SNP A A G TCGA-HT-7688-01 TCGA-HT-7688-10 Untested Somatic Phase_I WXS none Illumina GAIIx 36 16 ENST00000296755.7:c.4429A>G p.Lys1477Glu p.K1477E ENST00000296755 NM_005909.3 1477 Aaa/Gaa 0 0.403 CCAAGAAAAGAAAACTGATGA AQPEP 206338 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 5 115298645 115298645 + synonymous_variant Silent SNP C C T TCGA-HT-7688-01 TCGA-HT-7688-10 Untested Somatic Phase_I WXS none Illumina GAIIx 97 24 ENST00000357872.4:c.331C>T p.Leu111= p.L111= ENST00000357872 NM_173800.4 111 Ctg/Ttg 0 0.701 CGATCTGGAGCTGTGGCCGCA FOXQ1 94234 hgsc.bcm.edu;broad.mit.edu GRCh37 6 1313391 1313391 + missense_variant Missense_Mutation SNP G G A TCGA-HT-7688-01 TCGA-HT-7688-10 Untested Somatic Phase_I WXS none Illumina GAIIx 78 4 ENST00000296839.2:c.452G>A p.Gly151Asp p.G151D ENST00000296839 NM_033260.3 151 gGc/gAc 0 0.652 TACCTCATGGGCAAGTTCCCC TREML2 79865 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 6 41160191 41160191 + missense_variant Missense_Mutation SNP G G A TCGA-HT-7688-01 TCGA-HT-7688-10 Untested Somatic Phase_I WXS none Illumina GAIIx 46 7 ENST00000483722.1:c.940C>T p.Pro314Ser p.P314S ENST00000483722 NM_024807.2 314 Ccc/Tcc 0 0.587 TCCACATAGGGCTCTGGTCTT PRDM1 639 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 6 106553291 106553291 + missense_variant Missense_Mutation SNP G G A TCGA-HT-7688-01 TCGA-HT-7688-10 Untested Somatic Phase_I WXS none Illumina GAIIx 65 10 ENST00000369096.4:c.1256G>A p.Gly419Asp p.G419D ENST00000369096 NM_001198.3 419 gGc/gAc 0 0.587 CCCCCCTACGGCATGAATTGT IL6 3569 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 7 22769188 22769188 + missense_variant Missense_Mutation SNP A A T TCGA-HT-7688-01 TCGA-HT-7688-10 Untested Somatic Phase_I WXS none Illumina GAIIx 72 11 ENST00000404625.1:c.380A>T p.Glu127Val p.E127V ENST00000404625 127 gAg/gTg 0 0.458 GTATACCTAGAGTACCTCCAG GRB10 2887 hgsc.bcm.edu;broad.mit.edu GRCh37 7 50686969 50686969 + synonymous_variant Silent SNP T T C TCGA-HT-7688-01 TCGA-HT-7688-10 Untested Somatic Phase_I WXS none Illumina GAIIx 123 6 ENST00000398812.2:c.675A>G p.Glu225= p.E225= ENST00000398812 NM_005311.4 225 gaA/gaG 0 0.443 GCTCATGGTCTTCCAAGCACC INTS9 55756 hgsc.bcm.edu;broad.mit.edu GRCh37 8 28625815 28625815 + missense_variant Missense_Mutation SNP C C G TCGA-HT-7688-01 TCGA-HT-7688-10 Untested Somatic Phase_I WXS none Illumina GAIIx 196 11 ENST00000521022.1:c.1825G>C p.Glu609Gln p.E609Q ENST00000521022 NM_018250.3 609 Gag/Cag 0 0.502 GCTGTGTCCTCCACCTTAATA TG 7038 hgsc.bcm.edu;broad.mit.edu GRCh37 8 133912511 133912511 + synonymous_variant Silent SNP G G A TCGA-HT-7688-01 TCGA-HT-7688-10 Untested Somatic Phase_I WXS none Illumina GAIIx 58 5 ENST00000220616.4:c.3360G>A p.Ser1120= p.S1120= ENST00000220616 NM_003235.4 1120 tcG/tcA 0 0.622 TGCAGGCATCGGGGGCTGGCA RORB 6096 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 9 77257632 77257632 + stop_gained Nonsense_Mutation SNP C C T TCGA-HT-7688-01 TCGA-HT-7688-10 Untested Somatic Phase_I WXS none Illumina GAIIx 68 11 ENST00000376896.3:c.538C>T p.Gln180Ter p.Q180* ENST00000376896 NM_006914.3 180 Caa/Taa 0 0.468 ACAGATAAAGCAAGAACCTAT MSL3 10943 hgsc.bcm.edu;ucsc.edu GRCh37 X 11783854 11783854 + splice_region_variant,intron_variant Splice_Region SNP T T C TCGA-HT-7688-01 TCGA-HT-7688-10 Untested Somatic Phase_I WXS none Illumina GAIIx 136 25 ENST00000312196.4:c.1171+6T>C p.X391_splice ENST00000312196 NM_078629.3 0 0.587 AAAGAGTAGGTTCATTCTCGG FMR1NB 158521 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 147084823 147084823 + missense_variant Missense_Mutation SNP A A G TCGA-HT-7688-01 TCGA-HT-7688-10 Untested Somatic Phase_I WXS none Illumina GAIIx 23 7 ENST00000370467.3:c.380A>G p.Asn127Ser p.N127S ENST00000370467 NM_152578.2 127 aAt/aGt 0 0.373 GCTTTGCTGAATTTTTTCTTT UTY 7404 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 Y 15522901 15522901 + missense_variant Missense_Mutation SNP A A G TCGA-HT-7688-01 TCGA-HT-7688-10 Untested Somatic Phase_I WXS none Illumina GAIIx 37 22 ENST00000331397.4:c.527T>C p.Val176Ala p.V176A ENST00000331397 NM_001258267.1 176 gTg/gCg 0 0.413 GTCTGTGTTCACTTTGAACAT TMEM175 84286 broad.mit.edu;ucsc.edu GRCh37 4 944293 944293 + missense_variant Missense_Mutation SNP G G C TCGA-HT-7688-01 TCGA-HT-7688-10 Untested Somatic Phase_I WXS none Illumina GAIIx 106 11 ENST00000264771.4:c.277G>C p.Ala93Pro p.A93P ENST00000264771 NM_032326.2 93 Gca/Cca 0 0.597 AGTGGCCTGGGCAGCACACAC MKI67 4288 broad.mit.edu;ucsc.edu GRCh37 10 129923863 129923863 + missense_variant Missense_Mutation SNP G G C TCGA-HT-7688-01 TCGA-HT-7688-10 Untested Somatic Phase_I WXS none Illumina GAIIx 122 14 ENST00000368654.3:c.69C>G p.Ser23Arg p.S23R ENST00000368654 NM_002417.4 23 agC/agG 0 0.517 AGGTGCTGAGGCTCAGGGGAA MBL2 4153 broad.mit.edu;ucsc.edu GRCh37 10 54531233 54531233 + missense_variant Missense_Mutation SNP T T C TCGA-HT-7688-01 TCGA-HT-7688-10 Untested Somatic Phase_I WXS none Illumina GAIIx 93 11 ENST00000373968.3:c.163A>G p.Thr55Ala p.T55A ENST00000373968 NM_000242.2 55 Acc/Gcc 0 0.537 TCTCCCTTGGTGCCATCACGC HOXC4 3221 broad.mit.edu;ucsc.edu GRCh37 12 54447735 54447735 + missense_variant Missense_Mutation SNP C C G TCGA-HT-7688-01 TCGA-HT-7688-10 Untested Somatic Phase_I WXS none Illumina GAIIx 76 10 ENST00000430889.2:c.29C>G p.Ser10Cys p.S10C ENST00000430889 NM_153633.2 10 tCt/tGt 0 0.423 TTGATGGACTCTAACTACATC ARID1A 8289 broad.mit.edu;hgsc.bcm.edu GRCh37 1 27100176 27100176 + frameshift_variant Frame_Shift_Del DEL C C - TCGA-HT-7688-01 TCGA-HT-7688-10 Untested Somatic Phase_I WXS none Illumina GAIIx 129 23 ENST00000324856.7:c.3977delC p.Pro1326ArgfsTer155 p.P1326Rfs*155 ENST00000324856 NM_006015.4 1324 taC/ta 0 0.597 CTAGCCGCTACCCCCCgcagc CAD 790 broad.mit.edu;hgsc.bcm.edu GRCh37 2 27462334 27462334 + frameshift_variant Frame_Shift_Del DEL G G - TCGA-HT-7688-01 TCGA-HT-7688-10 Untested Somatic Phase_I WXS none Illumina GAIIx 69 25 ENST00000264705.4:c.5391delG p.Gln1798ArgfsTer33 p.Q1798Rfs*33 ENST00000264705 NM_004341.3 1797 Ggg/gg 0 0.567 CTATATCGATGGGCAGGTACG FBN2 2201 broad.mit.edu;hgsc.bcm.edu GRCh37 5 127782200 127782203 + frameshift_variant Frame_Shift_Del DEL TGTT TGTT - TCGA-HT-7688-01 TCGA-HT-7688-10 Untested Somatic Phase_I WXS none Illumina GAIIx 75 16 ENST00000508053.1:c.923_926delAACA p.Lys308ArgfsTer42 p.K308Rfs*42 ENST00000508053 308 aAACAg/ag 0 0.426 AGTTTCACTCTGTTTGTGACCAGC EPB41L2 2037 broad.mit.edu;hgsc.bcm.edu GRCh37 6 131229973 131229976 + frameshift_variant Frame_Shift_Del DEL TCTT TCTT - TCGA-HT-7688-01 TCGA-HT-7688-10 Untested Somatic Phase_I WXS none Illumina GAIIx 38 16 ENST00000337057.3:c.838_841delAAGA p.Lys280AspfsTer3 p.K280Dfs*3 ENST00000337057 NM_001431.3 280 AAGAga/ga 0 0.284 CTCAGTTGTCTCTTTATTTCTTTA NCOA4 8031 broad.mit.edu;hgsc.bcm.edu GRCh37 10 51585027 51585029 + inframe_deletion In_Frame_Del DEL AAG AAG - TCGA-HT-7688-01 TCGA-HT-7688-10 Untested Somatic Phase_I WXS none Illumina GAIIx 22 13 ENST00000452682.1:c.1176_1178delGAA p.Lys393del p.K393del ENST00000452682 NM_001145260.1 392 AAG/- 0 0.522 CTTGGAGGCCAAGAAACCATTGT ARID5B 84159 broad.mit.edu;hgsc.bcm.edu GRCh37 10 63845531 63845531 + frameshift_variant Frame_Shift_Del DEL A A - TCGA-HT-7688-01 TCGA-HT-7688-10 Untested Somatic Phase_I WXS none Illumina GAIIx 91 58 ENST00000279873.7:c.1272delA p.Lys424AsnfsTer55 p.K424Nfs*55 ENST00000279873 NM_032199.2 424 Aaa/aa 0 0.358 CAAACCTCGGAAACAGGAGAA CDON 50937 broad.mit.edu;hgsc.bcm.edu GRCh37 11 125891236 125891237 + frameshift_variant Frame_Shift_Del DEL AA AA - TCGA-HT-7688-01 TCGA-HT-7688-10 Untested Somatic Phase_I WXS none Illumina GAIIx 73 19 ENST00000392693.3:c.255_256delTT p.Leu87GlnfsTer15 p.L87Qfs*15 ENST00000392693 NM_001243597.1 85 ctTTct/ctct 0 0.475 GAGTTGAGAGAAAGAATTGTCA PTPRR 5801 broad.mit.edu;hgsc.bcm.edu GRCh37 12 71050530 71050532 + inframe_deletion In_Frame_Del DEL CTT CTT - TCGA-HT-7688-01 TCGA-HT-7688-10 Untested Somatic Phase_I WXS none Illumina GAIIx 159 43 ENST00000283228.2:c.1832_1834delAAG p.Glu611del p.E611del ENST00000283228 NM_002849.3 611 gAAGga/gga 0 0.433 TCCACAACTCCTTCTTCTTTCAG C14orf37 145407 broad.mit.edu;hgsc.bcm.edu GRCh37 14 58605972 58605974 + inframe_deletion In_Frame_Del DEL CCT CCT - TCGA-HT-7688-01 TCGA-HT-7688-10 Untested Somatic Phase_I WXS none Illumina GAIIx 110 36 ENST00000267485.7:c.103_105delAGG p.Arg35del p.R35del ENST00000267485 NM_001001872.2 35 AGG/- 0 0.478 GTGCTATCTCCCTCCTCCTTTCT SMARCA4 6597 broad.mit.edu;hgsc.bcm.edu GRCh37 19 11106926 11106928 + inframe_deletion In_Frame_Del DEL AGA AGA - TCGA-HT-7688-01 TCGA-HT-7688-10 Untested Somatic Phase_I WXS none Illumina GAIIx 145 29 ENST00000344626.4:c.1636_1638delAAG p.Lys546del p.K546del ENST00000344626 NM_003072.3 544 cAGAag/cag 0 0.576 CTCATCGACCAGAAGAAGGACAA ATRX 546 broad.mit.edu GRCh37 X 76875860 76875861 + splice_donor_variant,intron_variant Splice_Site DEL CA CA - TCGA-HT-7688-01 TCGA-HT-7688-10 Untested Somatic Phase_I WXS none Illumina GAIIx 34 9 ENST00000373344.5:c.5272+2_5272+3delTG p.X1758_splice ENST00000373344 NM_000489.3 0 0.317 GATATTAACTCACACTCAATTA ADARB2 105 hgsc.bcm.edu;broad.mit.edu GRCh37 10 1405304 1405304 + synonymous_variant Silent SNP C C T TCGA-DB-A64W-01 TCGA-DB-A64W-10 Untested Somatic Phase_I WXS none Illumina GAIIx 7 10 ENST00000381312.1:c.996G>A p.Ala332= p.A332= ENST00000381312 NM_018702.3 332 gcG/gcA 0 0.746 GTGCGGCCTGCGCGGCCTGAC PRF1 5551 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 10 72358832 72358832 + synonymous_variant Silent SNP A A C TCGA-DB-A64W-01 TCGA-DB-A64W-10 Untested Somatic Phase_I WXS none Illumina GAIIx 44 30 ENST00000441259.1:c.645T>G p.Leu215= p.L215= ENST00000441259 NM_005041.4 215 ctT/ctG 0 0.662 AGTTGGAGATAAGCCTGAGGT PDE6C 5146 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 10 95425134 95425134 + missense_variant Missense_Mutation SNP G G A TCGA-DB-A64W-01 TCGA-DB-A64W-10 Untested Somatic Phase_I WXS none Illumina GAIIx 34 9 ENST00000371447.3:c.2536G>A p.Gly846Ser p.G846S ENST00000371447 NM_006204.3 846 Ggt/Agt 0 0.313 AGATTCAGGAGGTGGTGATGA OR52B4 143496 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 11 4388941 4388941 + synonymous_variant Silent SNP T T C TCGA-DB-A64W-01 TCGA-DB-A64W-10 Untested Somatic Phase_I WXS none Illumina GAIIx 52 28 ENST00000408920.2:c.585A>G p.Arg195= p.R195= ENST00000408920 NM_001005161.3 195 cgA/cgG 0 0.343 AAATGTTTATTCGAATGTCAT SDS 10993 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 12 113830761 113830761 + synonymous_variant Silent SNP A A G TCGA-DB-A64W-01 TCGA-DB-A64W-10 Untested Somatic Phase_I WXS none Illumina GAIIx 214 163 ENST00000257549.4:c.972T>C p.Asn324= p.N324= ENST00000257549 NM_006843.2 324 aaT/aaC 0 0.617 TGGGCAACCTATTTGTCATGC KLF5 688 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 13 73636332 73636332 + missense_variant Missense_Mutation SNP G G A TCGA-DB-A64W-01 TCGA-DB-A64W-10 Untested Somatic Phase_I WXS none Illumina GAIIx 44 46 ENST00000377687.4:c.595G>A p.Ala199Thr p.A199T ENST00000377687 NM_001730.3 199 Gca/Aca 0 0.532 ACACCAGACCGCAGCTCCAGA CLEC14A 161198 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 14 38723787 38723787 + missense_variant Missense_Mutation SNP C C T TCGA-DB-A64W-01 TCGA-DB-A64W-10 Untested Somatic Phase_I WXS none Illumina GAIIx 117 50 ENST00000342213.2:c.1441G>A p.Ala481Thr p.A481T ENST00000342213 NM_175060.2 481 Gcg/Acg 0 0.547 GGGGACTCCGCCAGCAAGGCA TELO2 9894 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 16 1557703 1557703 + missense_variant Missense_Mutation SNP G G A TCGA-DB-A64W-01 TCGA-DB-A64W-10 Untested Somatic Phase_I WXS none Illumina GAIIx 30 15 ENST00000262319.6:c.2393G>A p.Arg798Gln p.R798Q ENST00000262319 NM_016111.3 798 cGg/cAg 0 0.647 CTGGAAGCCCGGTCCTGGCTG PDILT 204474 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 16 20387485 20387485 + stop_gained Nonsense_Mutation SNP G G A rs139247719 TCGA-DB-A64W-01 TCGA-DB-A64W-10 Untested Somatic Phase_I WXS none Illumina GAIIx 36 33 ENST00000302451.4:c.448C>T p.Arg150Ter p.R150* ENST00000302451 NM_174924.1 150 Cga/Tga 0 0.463 CTAATTTGTCGTCTCAACCAA ATXN2L 11273 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 16 28847394 28847394 + synonymous_variant Silent SNP A A G TCGA-DB-A64W-01 TCGA-DB-A64W-10 Untested Somatic Phase_I WXS none Illumina GAIIx 106 71 ENST00000395547.2:c.3036A>G p.Ala1012= p.A1012= ENST00000395547 NM_148414.2 1012 gcA/gcG 0 0.687 GGGTGCCTGCACTCTCAGCTT SEZ6L2 26470 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 16 29888271 29888271 + missense_variant,splice_region_variant Missense_Mutation SNP T T G TCGA-DB-A64W-01 TCGA-DB-A64W-10 Untested Somatic Phase_I WXS none Illumina GAIIx 40 17 ENST00000308713.5:c.1910A>C p.Glu637Ala p.E637A ENST00000308713 NM_001114099.2 637 gAg/gCg 0 0.667 CCTCGGGACCTCTGCAGGGGA TSNAXIP1 55815 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 16 67859118 67859118 + missense_variant Missense_Mutation SNP G G A TCGA-DB-A64W-01 TCGA-DB-A64W-10 Untested Somatic Phase_I WXS none Illumina GAIIx 63 45 ENST00000388833.3:c.595G>A p.Ala199Thr p.A199T ENST00000388833 NM_018430.2 199 Gca/Aca 0 0.542 GATCCTCATCGCAGACCTGAA NEURL4 84461 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 7231068 7231068 + missense_variant Missense_Mutation SNP G G A TCGA-DB-A64W-01 TCGA-DB-A64W-10 Untested Somatic Phase_I WXS none Illumina GAIIx 98 69 ENST00000399464.2:c.418C>T p.Arg140Cys p.R140C ENST00000399464 NM_032442.2 140 Cgc/Tgc 0 0.642 AACACAGAGCGTCCATCTCTC PRKAR1A 5573 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 66526499 66526499 + missense_variant Missense_Mutation SNP G G A TCGA-DB-A64W-01 TCGA-DB-A64W-10 Untested Somatic Phase_I WXS none Illumina GAIIx 74 55 ENST00000358598.2:c.1055G>A p.Arg352Gln p.R352Q ENST00000358598 NM_212471.2 352 cGa/cAa 0 0.488 AAGCTGGACCGACCTAGATTT SMCHD1 23347 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 18 2732375 2732375 + missense_variant Missense_Mutation SNP A A G TCGA-DB-A64W-01 TCGA-DB-A64W-10 Untested Somatic Phase_I WXS none Illumina GAIIx 53 33 ENST00000320876.6:c.3161A>G p.His1054Arg p.H1054R ENST00000320876 NM_015295.2 1054 cAt/cGt 0 0.363 CAGATCAAACATCAGGATGAG PRSS57 400668 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 19 691902 691902 + missense_variant Missense_Mutation SNP C C T TCGA-DB-A64W-01 TCGA-DB-A64W-10 Untested Somatic Phase_I WXS none Illumina GAIIx 48 21 ENST00000329267.7:c.337G>A p.Asp113Asn p.D113N ENST00000329267 NM_214710.3 113 Gac/Aac 0 0.622 GGGTGGTAGTCGGGGTGTGTG CIC 23152 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 19 42791817 42791817 + missense_variant Missense_Mutation SNP G G T TCGA-DB-A64W-01 TCGA-DB-A64W-10 Untested Somatic Phase_I WXS none Illumina GAIIx 23 41 ENST00000575354.2:c.703G>T p.Gly235Cys p.G235C ENST00000575354 NM_015125.3 235 Ggc/Tgc 0 0.612 CAAGATCCTGGGCGAGTGGTG RBMXL1 494115 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 89448560 89448560 + missense_variant Missense_Mutation SNP C C T TCGA-DB-A64W-01 TCGA-DB-A64W-10 Untested Somatic Phase_I WXS none Illumina GAIIx 43 122 ENST00000399794.2:c.950G>A p.Arg317His p.R317H ENST00000399794 NM_001162536.2 317 cGt/cAt 0 0.498 ATATCCATCACGTGAGCTGCT DENND2D 79961 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 111738675 111738675 + missense_variant Missense_Mutation SNP G G C TCGA-DB-A64W-01 TCGA-DB-A64W-10 Untested Somatic Phase_I WXS none Illumina GAIIx 7 32 ENST00000357640.4:c.508C>G p.Leu170Val p.L170V ENST00000357640 NM_024901.4 170 Ctg/Gtg 0 0.552 ACTTCATCCAGGATCTGCAGG OR6N2 81442 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 158746704 158746704 + missense_variant Missense_Mutation SNP C C T TCGA-DB-A64W-01 TCGA-DB-A64W-10 Untested Somatic Phase_I WXS none Illumina GAIIx 25 22 ENST00000339258.1:c.722G>A p.Cys241Tyr p.C241Y ENST00000339258 NM_001005278.1 241 tGt/tAt 0 0.433 ATGTGAGGCACAGGTAGAAAA EPRS 2058 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 220142262 220142262 + synonymous_variant Silent SNP T T A TCGA-DB-A64W-01 TCGA-DB-A64W-10 Untested Somatic Phase_I WXS none Illumina GAIIx 47 36 ENST00000366923.3:c.4425A>T p.Gly1475= p.G1475= ENST00000366923 NM_004446.2 1475 ggA/ggT 0 0.433 GGCTTTTAGCTCCCATGGATG TLR5 7100 hgsc.bcm.edu;ucsc.edu GRCh37 1 223286129 223286129 + missense_variant Missense_Mutation SNP G G T rs764535 byFrequency TCGA-DB-A64W-01 TCGA-DB-A64W-10 Untested Somatic Phase_I WXS none Illumina GAIIx 55 35 ENST00000540964.1:c.245C>A p.Thr82Asn p.T82N ENST00000540964 82 aCc/aAc 0 0.498 AGTCAAGGGGGTATACTGGCT MMP9 4318 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 20 44641108 44641108 + missense_variant Missense_Mutation SNP C C T TCGA-DB-A64W-01 TCGA-DB-A64W-10 Untested Somatic Phase_I WXS none Illumina GAIIx 56 37 ENST00000372330.3:c.1217C>T p.Ala406Val p.A406V ENST00000372330 NM_004994.2 406 gCg/gTg 0 0.637 TTCGGCCACGCGCTGGGCTTA IDH1 3417 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T rs121913500 TCGA-DB-A64W-01 TCGA-DB-A64W-10 Untested Somatic Phase_I WXS none Illumina GAIIx 36 25 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 0.393 ATAAGCATGACGACCTATGAT ZBTB11 27107 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 3 101373567 101373567 + stop_gained Nonsense_Mutation SNP G G A TCGA-DB-A64W-01 TCGA-DB-A64W-10 Untested Somatic Phase_I WXS none Illumina GAIIx 41 32 ENST00000312938.4:c.2290C>T p.Arg764Ter p.R764* ENST00000312938 NM_014415.3 764 Cga/Tga 0 0.363 TGATAGCCTCGAACCTCAGGC ZBTB20 26137 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 3 114058129 114058129 + missense_variant Missense_Mutation SNP T T C TCGA-DB-A64W-01 TCGA-DB-A64W-10 Untested Somatic Phase_I WXS none Illumina GAIIx 154 79 ENST00000474710.1:c.1949A>G p.Asn650Ser p.N650S ENST00000474710 NM_001164342.1 650 aAc/aGc 0 0.527 CATGTGCACGTTGAGGGAGCT IGSF10 285313 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 3 151162901 151162901 + missense_variant Missense_Mutation SNP T T C TCGA-DB-A64W-01 TCGA-DB-A64W-10 Untested Somatic Phase_I WXS none Illumina GAIIx 65 51 ENST00000282466.3:c.4868A>G p.Lys1623Arg p.K1623R ENST00000282466 NM_178822.4 1623 aAg/aGg 0 0.438 AACTGGTTTCTTATCAAAGTC PIK3CA 5290 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 3 178936082 178936082 + missense_variant Missense_Mutation SNP G G A rs121913273 TCGA-DB-A64W-01 TCGA-DB-A64W-10 Untested Somatic Phase_I WXS none Illumina GAIIx 23 17 ENST00000263967.3:c.1624G>A p.Glu542Lys p.E542K ENST00000263967 NM_006218.2 542 Gaa/Aaa 0 0.333 TCCTCTCTCTGAAATCACTGA PCDHGC3 5098 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 5 140857769 140857769 + missense_variant Missense_Mutation SNP C C A TCGA-DB-A64W-01 TCGA-DB-A64W-10 Untested Somatic Phase_I WXS none Illumina GAIIx 279 208 ENST00000308177.3:c.2086C>A p.Leu696Ile p.L696I ENST00000308177 NM_002588.2 696 Ctt/Att 0 0.488 TTATCTACTTCTTTCTCTAAT EZR 7430 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 6 159188410 159188410 + synonymous_variant Silent SNP G G A TCGA-DB-A64W-01 TCGA-DB-A64W-10 Untested Somatic Phase_I WXS none Illumina GAIIx 104 51 ENST00000367075.3:c.1479C>T p.Gly493= p.G493= ENST00000367075 NM_001111077.1 493 ggC/ggT 0 0.642 TGGGCTCTGCGCCCTCATCCT AGR3 155465 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 7 16918142 16918142 + missense_variant Missense_Mutation SNP A A G TCGA-DB-A64W-01 TCGA-DB-A64W-10 Untested Somatic Phase_I WXS none Illumina GAIIx 32 19 ENST00000310398.2:c.101T>C p.Leu34Pro p.L34P ENST00000310398 NM_176813.3 34 cTc/cCc 0 0.383 ACCTCTTGAGAGTGTCTGAGG SKAP2 8935 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 7 26729921 26729921 + missense_variant Missense_Mutation SNP C C T TCGA-DB-A64W-01 TCGA-DB-A64W-10 Untested Somatic Phase_I WXS none Illumina GAIIx 49 25 ENST00000345317.2:c.857G>A p.Ser286Asn p.S286N ENST00000345317 NM_003930.3 286 aGt/aAt 0 0.378 GTGATGGACACTATCCTGACT MCPH1 79648 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 8 6301937 6301937 + missense_variant Missense_Mutation SNP C C T TCGA-DB-A64W-01 TCGA-DB-A64W-10 Untested Somatic Phase_I WXS none Illumina GAIIx 38 22 ENST00000344683.5:c.694C>T p.His232Tyr p.H232Y ENST00000344683 NM_024596.3 232 Cac/Tac 0 0.338 TGGTGGCTTACACTCATCTTT WNK2 65268 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 9 96018613 96018613 + synonymous_variant Silent SNP C C T TCGA-DB-A64W-01 TCGA-DB-A64W-10 Untested Somatic Phase_I WXS none Illumina GAIIx 14 7 ENST00000297954.4:c.2067C>T p.Pro689= p.P689= ENST00000297954 NM_001282394.1 689 ccC/ccT 0 0.751 TCCCGGCCCCCGCCTGCCCTC AGPAT2 10555 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 9 139571516 139571516 + missense_variant Missense_Mutation SNP C C T TCGA-DB-A64W-01 TCGA-DB-A64W-10 Untested Somatic Phase_I WXS none Illumina GAIIx 134 75 ENST00000371696.2:c.389G>A p.Gly130Asp p.G130D ENST00000371696 NM_006412.3 130 gGc/gAc 0 0.637 CATGATGAGGCCCACGGGCCC ASMTL 8623 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 1551213 1551213 + missense_variant Missense_Mutation SNP G G A TCGA-DB-A64W-01 TCGA-DB-A64W-10 Untested Somatic Phase_I WXS none Illumina GAIIx 20 33 ENST00000381317.3:c.458C>T p.Ser153Leu p.S153L ENST00000381317 NM_004192.3 153 tCg/tTg 0 0.637 GGACAGCTCCGAGAACTTCAC NHS 4810 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 17744930 17744930 + stop_gained Nonsense_Mutation SNP G G T TCGA-DB-A64W-01 TCGA-DB-A64W-10 Untested Somatic Phase_I WXS none Illumina GAIIx 80 68 ENST00000380060.3:c.2641G>T p.Glu881Ter p.E881* ENST00000380060 NM_198270.2 881 Gaa/Taa 0 0.468 TTCTCGAATGGAAAACGCCAA GK 2710 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 30739086 30739086 + missense_variant Missense_Mutation SNP G G A TCGA-DB-A64W-01 TCGA-DB-A64W-10 Untested Somatic Phase_I WXS none Illumina GAIIx 29 23 ENST00000378943.3:c.1457G>A p.Arg486Gln p.R486Q ENST00000378943 NM_001128127.2 486 cGg/cAg 0 0.502 ACGATGGAGCGGTTTGAACCT TRO 7216 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 54957391 54957391 + missense_variant Missense_Mutation SNP A A T TCGA-DB-A64W-01 TCGA-DB-A64W-10 Untested Somatic Phase_I WXS none Illumina GAIIx 30 25 ENST00000173898.7:c.4234A>T p.Thr1412Ser p.T1412S ENST00000173898 NM_001039705.2 1412 Acc/Tcc 0 0.587 TGGACCGAGCACCAGTGCTGG PBDC1 51260 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 75397598 75397598 + missense_variant Missense_Mutation SNP A A T TCGA-DB-A64W-01 TCGA-DB-A64W-10 Untested Somatic Phase_I WXS none Illumina GAIIx 16 11 ENST00000373358.3:c.557A>T p.Asn186Ile p.N186I ENST00000373358 NM_016500.3 186 aAc/aTc 0 0.413 gaagaagagaacaccaagaat USP26 83844 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 132159579 132159579 + synonymous_variant Silent SNP T T C TCGA-DB-A64W-01 TCGA-DB-A64W-10 Untested Somatic Phase_I WXS none Illumina GAIIx 43 30 ENST00000511190.1:c.2670A>G p.Glu890= p.E890= ENST00000511190 NM_031907.1 890 gaA/gaG 0 0.458 TCAACATCTCTTCAAAGATCT GPR112 139378 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 135405392 135405392 + missense_variant Missense_Mutation SNP C C T TCGA-DB-A64W-01 TCGA-DB-A64W-10 Untested Somatic Phase_I WXS none Illumina GAIIx 98 85 ENST00000394143.1:c.526C>T p.Arg176Cys p.R176C ENST00000394143 NM_153834.3 176 Cgt/Tgt 0 0.448 AAGCATGATGCGTAGCTTTCC AFF2 2334 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 148068962 148068962 + missense_variant Missense_Mutation SNP A A G TCGA-DB-A64W-01 TCGA-DB-A64W-10 Untested Somatic Phase_I WXS none Illumina GAIIx 91 67 ENST00000370460.2:c.3689A>G p.Asn1230Ser p.N1230S ENST00000370460 NM_002025.3 1230 aAt/aGt 0 0.532 AACTGTAACAATGGCCCAGTC COL8A1 1295 broad.mit.edu;ucsc.edu GRCh37 3 99513494 99513494 + missense_variant Missense_Mutation SNP C C T TCGA-DB-A64W-01 TCGA-DB-A64W-10 Untested Somatic Phase_I WXS none Illumina GAIIx 129 68 ENST00000261037.3:c.749C>T p.Ala250Val p.A250V ENST00000261037 NM_001850.4 250 gCg/gTg 0 0.642 ATGCCAGGTGCGCCAGGTGTA HECW1 23072 broad.mit.edu;ucsc.edu GRCh37 7 43483866 43483866 + synonymous_variant Silent SNP G G A TCGA-DB-A64W-01 TCGA-DB-A64W-10 Untested Somatic Phase_I WXS none Illumina GAIIx 47 21 ENST00000395891.2:c.1095G>A p.Gln365= p.Q365= ENST00000395891 NM_015052.3 365 caG/caA 0 0.532 CCCAAATTCAGGACAGCCCCA TDGF1P3 6998 broad.mit.edu;ucsc.edu GRCh37 X 109764561 109764561 + non_coding_transcript_exon_variant RNA SNP G G A TCGA-DB-A64W-01 TCGA-DB-A64W-10 Untested Somatic Phase_I WXS none Illumina GAIIx 55 47 ENST00000602699.1:n.1022G>A *341* ENST00000602699 0 0.572 AGCGTGTGCTGCCCATGGGAA ZCCHC10 54819 broad.mit.edu;hgsc.bcm.edu GRCh37 5 132334445 132334446 + frameshift_variant Frame_Shift_Ins INS - - T TCGA-DB-A64W-01 TCGA-DB-A64W-10 Untested Somatic Phase_I WXS none Illumina GAIIx 22 12 ENST00000324170.3:c.342dupA p.Glu115ArgfsTer4 p.E115Rfs*4 ENST00000324170 NM_017665.1 114 -/A 0 0.48 TCACTGTCCTCTGAGGAGGAAG ZNF292 23036 broad.mit.edu;hgsc.bcm.edu GRCh37 6 87964502 87964503 + frameshift_variant Frame_Shift_Ins INS - - A TCGA-DB-A64W-01 TCGA-DB-A64W-10 Untested Somatic Phase_I WXS none Illumina GAIIx 39 19 ENST00000369577.3:c.1158dupA p.Arg387ThrfsTer7 p.R387Tfs*7 ENST00000369577 NM_015021.1 385 -/A 0 0.376 ATCTGGAAGTTAAACGTGCTTG BCOR 54880 broad.mit.edu;hgsc.bcm.edu GRCh37 X 39930292 39930292 + frameshift_variant Frame_Shift_Del DEL G G - TCGA-DB-A64W-01 TCGA-DB-A64W-10 Untested Somatic Phase_I WXS none Illumina GAIIx 58 40 ENST00000378444.4:c.3172delC p.Gln1058ArgfsTer55 p.Q1058Rfs*55 ENST00000378444 NM_001123385.1 1058 Cag/ag 0 0.493 TTTTTGTCCTGATTTCCTTTC PPFIA1 8500 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 11 70208264 70208264 + synonymous_variant Silent SNP G G A TCGA-E1-5311-01 TCGA-E1-5311-10 Untested Somatic Phase_I WXS none Illumina GAIIx 109 71 ENST00000253925.7:c.2646G>A p.Thr882= p.T882= ENST00000253925 NM_003626.3 882 acG/acA 0 0.448 ACGGGCCAACGGTTGTGGTCT SSH2 85464 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 27994187 27994187 + synonymous_variant Silent SNP G G A TCGA-E1-5311-01 TCGA-E1-5311-10 Untested Somatic Phase_I WXS none Illumina GAIIx 114 53 ENST00000269033.3:c.783C>T p.Ile261= p.I261= ENST00000269033 NM_033389.2 261 atC/atT 0 0.383 TCTGCATCATGATCTCCCTTA CIC 23152 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 19 42791718 42791718 + missense_variant Missense_Mutation SNP C C T TCGA-E1-5311-01 TCGA-E1-5311-10 Untested Somatic Phase_I WXS none Illumina GAIIx 28 54 ENST00000575354.2:c.604C>T p.Arg202Trp p.R202W ENST00000575354 NM_015125.3 202 Cgg/Tgg 0 0.622 CCACATCCGGCGGCCCATGAA ECM1 1893 hgsc.bcm.edu;broad.mit.edu GRCh37 1 150482440 150482440 + missense_variant Missense_Mutation SNP A A G TCGA-E1-5311-01 TCGA-E1-5311-10 Untested Somatic Phase_I WXS none Illumina GAIIx 207 10 ENST00000369049.4:c.347A>G p.Glu116Gly p.E116G ENST00000369049 NM_001202858.1 116 gAa/gGa 0 0.597 CTCCAACAGGAAAAGCTGCTA PLCB1 23236 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 20 8862304 8862304 + missense_variant Missense_Mutation SNP A A C TCGA-E1-5311-01 TCGA-E1-5311-10 Untested Somatic Phase_I WXS none Illumina GAIIx 257 167 ENST00000338037.6:c.3459A>C p.Lys1153Asn p.K1153N ENST00000338037 NM_015192.3 1153 aaA/aaC 0 0.468 ACCAAGACAAATTCAAAAGAC TCFL5 10732 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 20 61488943 61488943 + missense_variant Missense_Mutation SNP G G A TCGA-E1-5311-01 TCGA-E1-5311-10 Untested Somatic Phase_I WXS none Illumina GAIIx 142 88 ENST00000335351.3:c.1042C>T p.Arg348Cys p.R348C ENST00000335351 NM_006602.2 348 Cgt/Tgt 0 0.463 TCCAACTGACGCATTCTACTC HEATR5B 54497 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 37265041 37265041 + missense_variant Missense_Mutation SNP G G A TCGA-E1-5311-01 TCGA-E1-5311-10 Untested Somatic Phase_I WXS none Illumina GAIIx 90 56 ENST00000233099.5:c.3173C>T p.Ala1058Val p.A1058V ENST00000233099 NM_019024.1 1058 gCa/gTa 0 0.383 ATGTCGTGGTGCAAACATGTG IDH1 3417 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T rs121913500 TCGA-E1-5311-01 TCGA-E1-5311-10 Untested Somatic Phase_I WXS none Illumina GAIIx 94 73 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 0.393 ATAAGCATGACGACCTATGAT FRAS1 80144 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 4 79420950 79420950 + missense_variant Missense_Mutation SNP A A G TCGA-E1-5311-01 TCGA-E1-5311-10 Untested Somatic Phase_I WXS none Illumina GAIIx 150 108 ENST00000264895.6:c.9191A>G p.Asn3064Ser p.N3064S ENST00000264895 NM_025074.6 3064 aAc/aGc 0 0.532 GCGATTCTGAACATCAAGGTG IL15 3600 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 4 142651106 142651106 + missense_variant Missense_Mutation SNP T T C TCGA-E1-5311-01 TCGA-E1-5311-10 Untested Somatic Phase_I WXS none Illumina GAIIx 179 63 ENST00000296545.7:c.347T>C p.Ile116Thr p.I116T ENST00000296545 116 aTc/aCc 0 0.388 AATCTGATCATCCTAGCAAAC PCDHGA3 56112 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 5 140724038 140724038 + synonymous_variant Silent SNP G G A TCGA-E1-5311-01 TCGA-E1-5311-10 Untested Somatic Phase_I WXS none Illumina GAIIx 68 78 ENST00000253812.6:c.438G>A p.Thr146= p.T146= ENST00000253812 NM_018916.3 146 acG/acA 0 0.353 GTGAACTAACGGTTCCTGGAA KIAA1324L 222223 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 7 86526826 86526826 + missense_variant Missense_Mutation SNP A A C TCGA-E1-5311-01 TCGA-E1-5311-10 Untested Somatic Phase_I WXS none Illumina GAIIx 140 72 ENST00000450689.2:c.2681T>G p.Phe894Cys p.F894C ENST00000450689 NM_001142749.2 894 tTt/tGt 0 0.468 CCTTACCTGAAATCCTCTCTT KCNU1 157855 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 8 36766859 36766859 + missense_variant Missense_Mutation SNP C C T TCGA-E1-5311-01 TCGA-E1-5311-10 Untested Somatic Phase_I WXS none Illumina GAIIx 395 255 ENST00000399881.3:c.2137C>T p.Arg713Trp p.R713W ENST00000399881 NM_001031836.2 713 Cgg/Tgg 0 0.468 GTATAAGTTTCGGAACCATAT NOTCH1 4851 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 9 139412204 139412204 + missense_variant,splice_region_variant Missense_Mutation SNP C C G TCGA-E1-5311-01 TCGA-E1-5311-10 Untested Somatic Phase_I WXS none Illumina GAIIx 80 43 ENST00000277541.6:c.1441G>C p.Gly481Arg p.G481R ENST00000277541 NM_017617.3 481 Ggc/Cgc 0 0.667 GCCGACGCACCGGGCATGCAG SMC4 10051 broad.mit.edu;ucsc.edu GRCh37 3 160141575 160141575 + missense_variant Missense_Mutation SNP G G C TCGA-E1-5311-01 TCGA-E1-5311-10 Untested Somatic Phase_I WXS none Illumina GAIIx 144 34 ENST00000357388.3:c.2272G>C p.Val758Leu p.V758L ENST00000357388 NM_001002800.1 758 Gta/Cta 0 0.383 TGGAAGCAAAGTAATGAAAGG ANKRD11 29123 broad.mit.edu;ucsc.edu GRCh37 16 89350191 89350191 + missense_variant Missense_Mutation SNP C C T TCGA-E1-5311-01 TCGA-E1-5311-10 Untested Somatic Phase_I WXS none Illumina GAIIx 211 108 ENST00000301030.4:c.2759G>A p.Arg920Lys p.R920K ENST00000301030 NM_001256183.1 920 aGg/aAg 0 0.547 CTGCTCTTTCCTCTTCTCAGA DNM1P46 196968 broad.mit.edu;ucsc.edu GRCh37 15 100332827 100332827 + non_coding_transcript_exon_variant RNA SNP G G A TCGA-E1-5311-01 TCGA-E1-5311-10 Untested Somatic Phase_I WXS none Illumina GAIIx 22 26 ENST00000341853.1:n.1365C>T *455* ENST00000341853 0 0.612 TGACTACAACGAGGGACACAG ITIH2 3698 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 10 7780699 7780699 + synonymous_variant Silent SNP G G A TCGA-DU-5855-01 TCGA-DU-5855-10 Untested Somatic Phase_I WXS none Illumina GAIIx 44 12 ENST00000358415.4:c.2073G>A p.Thr691= p.T691= ENST00000358415 NM_002216.2 691 acG/acA 0 0.562 TAGAGTCCACGCCACCCCCAC RAG1 5896 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 11 36596675 36596675 + synonymous_variant Silent SNP C C T TCGA-DU-5855-01 TCGA-DU-5855-10 Untested Somatic Phase_I WXS none Illumina GAIIx 34 11 ENST00000299440.5:c.1821C>T p.Asp607= p.D607= ENST00000299440 NM_000448.2 607 gaC/gaT 0 0.468 GAATGGGAGACGTGAGTGAGA SORL1 6653 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 11 121421301 121421301 + missense_variant Missense_Mutation SNP A A G TCGA-DU-5855-01 TCGA-DU-5855-10 Untested Somatic Phase_I WXS none Illumina GAIIx 65 7 ENST00000260197.7:c.2188A>G p.Lys730Glu p.K730E ENST00000260197 NM_003105.5 730 Aag/Gag 0 0.557 CAGCTACCGGAAGATTTCTGG KCNMB4 27345 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 12 70824288 70824288 + missense_variant Missense_Mutation SNP G G A TCGA-DU-5855-01 TCGA-DU-5855-10 Untested Somatic Phase_I WXS none Illumina GAIIx 152 19 ENST00000258111.4:c.488G>A p.Arg163His p.R163H ENST00000258111 NM_014505.5 163 cGc/cAc 0 0.488 CTTCTGCATCGCACTCATGAT HECTD4 283450 hgsc.bcm.edu;broad.mit.edu GRCh37 12 112617095 112617095 + synonymous_variant Silent SNP G G C TCGA-DU-5855-01 TCGA-DU-5855-10 Untested Somatic Phase_I WXS none Illumina GAIIx 14 6 ENST00000550722.1:c.10656C>G p.Val3552= p.V3552= ENST00000550722 NM_001109662.3 3552 gtC/gtG 0 0.542 AAATGTCAGAGACTCTGATGG SOHLH2 54937 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 13 36776075 36776075 + synonymous_variant Silent SNP A A G TCGA-DU-5855-01 TCGA-DU-5855-10 Untested Somatic Phase_I WXS none Illumina GAIIx 71 23 ENST00000511166.1:c.435T>C p.Val145= p.V145= ENST00000511166 NM_001198910.1 145 gtT/gtC 0 0.423 CCTTCAAGAGAACCATGTTGA FNDC3A 22862 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 13 49710555 49710555 + missense_variant Missense_Mutation SNP G G A TCGA-DU-5855-01 TCGA-DU-5855-10 Untested Somatic Phase_I WXS none Illumina GAIIx 26 27 ENST00000492622.2:c.578G>A p.Arg193His p.R193H ENST00000492622 NM_001079673.1 193 cGc/cAc 0 0.388 TTGAAGGATCGCCAAGGAACA NGDN 25983 hgsc.bcm.edu;broad.mit.edu GRCh37 14 23940135 23940135 + synonymous_variant Silent SNP A A G TCGA-DU-5855-01 TCGA-DU-5855-10 Untested Somatic Phase_I WXS none Illumina GAIIx 101 6 ENST00000408901.3:c.93A>G p.Gln31= p.Q31= ENST00000408901 NM_015514.1 31 caA/caG 0 0.368 TAACTGCACAAGTGAAATCAC CTAGE5 4253 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 14 39784908 39784908 + missense_variant Missense_Mutation SNP G G A TCGA-DU-5855-01 TCGA-DU-5855-10 Untested Somatic Phase_I WXS none Illumina GAIIx 88 26 ENST00000396158.2:c.1393G>A p.Ala465Thr p.A465T ENST00000396158 NM_001247989.1 465 Gca/Aca 0 0.254 TGAGAAAAAAGCACATGATAA EIF2AK4 440275 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 15 40241413 40241413 + missense_variant Missense_Mutation SNP C C T TCGA-DU-5855-01 TCGA-DU-5855-10 Untested Somatic Phase_I WXS none Illumina GAIIx 79 47 ENST00000263791.5:c.457C>T p.Arg153Trp p.R153W ENST00000263791 NM_001013703.2 153 Cgg/Tgg 0 0.537 GCTGGAAAGGCGGGCTCAGGA BUB1B 701 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 15 40509802 40509802 + synonymous_variant Silent SNP C C T rs139066741 by1000genomes TCGA-DU-5855-01 TCGA-DU-5855-10 Untested Somatic Phase_I WXS none Illumina GAIIx 305 95 ENST00000287598.6:c.2784C>T p.Ser928= p.S928= ENST00000287598 NM_001211.5 928 agC/agT 0 0.443 TTACCCTCAGCGGCTTTCGGA TP53 7157 hgsc.bcm.edu;broad.mit.edu GRCh37 17 7577121 7577121 + missense_variant Missense_Mutation SNP G G A rs121913343 TCGA-DU-5855-01 TCGA-DU-5855-10 Untested Somatic Phase_I WXS none Illumina GAIIx 3 23 ENST00000269305.4:c.817C>T p.Arg273Cys p.R273C ENST00000269305 NM_001126112.2 273 Cgt/Tgt 0 0.542 GCACAAACACGCACCTCAAAG CTC1 80169 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 8132163 8132163 + missense_variant Missense_Mutation SNP T T C TCGA-DU-5855-01 TCGA-DU-5855-10 Untested Somatic Phase_I WXS none Illumina GAIIx 20 4 ENST00000315684.8:c.3269A>G p.Asn1090Ser p.N1090S ENST00000315684 NM_025099.5 1090 aAt/aGt 0 0.567 CACATGGTGATTCCTACAGGT PSMD3 5709 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 38151212 38151212 + missense_variant Missense_Mutation SNP C C G TCGA-DU-5855-01 TCGA-DU-5855-10 Untested Somatic Phase_I WXS none Illumina GAIIx 45 19 ENST00000264639.4:c.987C>G p.His329Gln p.H329Q ENST00000264639 NM_002809.3 329 caC/caG 0 0.572 TCCAGGTGCACAAGCTTCTCA CCR7 1236 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 38711759 38711759 + synonymous_variant Silent SNP G G A TCGA-DU-5855-01 TCGA-DU-5855-10 Untested Somatic Phase_I WXS none Illumina GAIIx 20 19 ENST00000246657.2:c.372C>T p.Phe124= p.F124= ENST00000246657 NM_001838.3 124 ttC/ttT 0 0.552 AGTGGACACCGAAGACCCAGG HDAC5 10014 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 42169818 42169818 + missense_variant Missense_Mutation SNP G G A rs138137922 TCGA-DU-5855-01 TCGA-DU-5855-10 Untested Somatic Phase_I WXS none Illumina GAIIx 13 10 ENST00000225983.6:c.853C>T p.Arg285Cys p.R285C ENST00000225983 285 Cgc/Tgc 0 0.537 CCATCCTTGCGACGCAGGAGG KLHL14 57565 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 18 30349844 30349844 + synonymous_variant Silent SNP C C T TCGA-DU-5855-01 TCGA-DU-5855-10 Untested Somatic Phase_I WXS none Illumina GAIIx 30 10 ENST00000359358.4:c.711G>A p.Ala237= p.A237= ENST00000359358 NM_020805.1 237 gcG/gcA 0 0.657 TCTGGAAGAGCGCCAGCTCCG FCGBP 8857 hgsc.bcm.edu;broad.mit.edu GRCh37 19 40408740 40408740 + missense_variant Missense_Mutation SNP C C T TCGA-DU-5855-01 TCGA-DU-5855-10 Untested Somatic Phase_I WXS none Illumina GAIIx 32 16 ENST00000221347.6:c.4099G>A p.Ala1367Thr p.A1367T ENST00000221347 NM_003890.2 1367 Gcc/Acc 0 0.587 AGGTCGTAGGCCACACGCAGG MST1L 11223 hgsc.bcm.edu;broad.mit.edu GRCh37 1 17084292 17084292 + non_coding_transcript_exon_variant RNA SNP A A G TCGA-DU-5855-01 TCGA-DU-5855-10 Untested Somatic Phase_I WXS none Illumina GAIIx 181 27 ENST00000389184.2:n.1710T>C *570* ENST00000389184 0 0.587 TGGTCCCTGGAGGCACCACAT MST1L 11223 hgsc.bcm.edu;broad.mit.edu GRCh37 1 17084293 17084293 + non_coding_transcript_exon_variant RNA SNP G G T TCGA-DU-5855-01 TCGA-DU-5855-10 Untested Somatic Phase_I WXS none Illumina GAIIx 179 26 ENST00000389184.2:n.1709C>A *570* ENST00000389184 0 0.587 GGTCCCTGGAGGCACCACATA SCMH1 22955 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 41579187 41579187 + synonymous_variant Silent SNP C C T TCGA-DU-5855-01 TCGA-DU-5855-10 Untested Somatic Phase_I WXS none Illumina GAIIx 24 14 ENST00000402904.2:c.483G>A p.Ser161= p.S161= ENST00000402904 NM_001031694.2 161 tcG/tcA 0 0.443 TGTGGGAAGGCGATGGTGGCT CFHR5 81494 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 196973949 196973949 + missense_variant Missense_Mutation SNP T T C TCGA-DU-5855-01 TCGA-DU-5855-10 Untested Somatic Phase_I WXS none Illumina GAIIx 58 25 ENST00000256785.4:c.1489T>C p.Trp497Arg p.W497R ENST00000256785 497 Tgg/Cgg 0 0.378 AAATAAACAGTGGTCAGAACC HHIPL2 79802 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 222717481 222717481 + synonymous_variant Silent SNP C C T TCGA-DU-5855-01 TCGA-DU-5855-10 Untested Somatic Phase_I WXS none Illumina GAIIx 159 40 ENST00000343410.6:c.372G>A p.Thr124= p.T124= ENST00000343410 NM_024746.3 124 acG/acA 0 0.597 TCCGGAGAGGCGTCTGGGTGT PRND 23627 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 20 4705632 4705632 + synonymous_variant Silent SNP C C T TCGA-DU-5855-01 TCGA-DU-5855-10 Untested Somatic Phase_I WXS none Illumina GAIIx 38 8 ENST00000305817.2:c.435C>T p.Cys145= p.C145= ENST00000305817 NM_012409.2 145 tgC/tgT 0 0.602 TCAAGCATTGCGAGTTTTGGT PLCG1 5335 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 20 39795459 39795459 + missense_variant Missense_Mutation SNP A A G TCGA-DU-5855-01 TCGA-DU-5855-10 Untested Somatic Phase_I WXS none Illumina GAIIx 55 33 ENST00000373272.2:c.2261A>G p.Tyr754Cys p.Y754C ENST00000373272 NM_002660.2 754 tAt/tGt 0 0.562 AAGCTGCGCTATCCCATCAAC MAP3K19 80122 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 135744754 135744754 + missense_variant Missense_Mutation SNP G G A TCGA-DU-5855-01 TCGA-DU-5855-10 Untested Somatic Phase_I WXS none Illumina GAIIx 98 16 ENST00000375845.3:c.1688C>T p.Thr563Ile p.T563I ENST00000375845 NM_025052.3 563 aCc/aTc 0 0.423 TTTATGCATGGTAGGCTTAAT IFIH1 64135 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 163134056 163134056 + missense_variant Missense_Mutation SNP A A C TCGA-DU-5855-01 TCGA-DU-5855-10 Untested Somatic Phase_I WXS none Illumina GAIIx 19 17 ENST00000263642.2:c.1913T>G p.Phe638Cys p.F638C ENST00000263642 NM_022168.3 638 tTt/tGt 0 0.353 TATGACTGCAAACTTCTTATC IDH1 3417 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T rs121913500 TCGA-DU-5855-01 TCGA-DU-5855-10 Untested Somatic Phase_I WXS none Illumina GAIIx 52 24 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 0.393 ATAAGCATGACGACCTATGAT FLNB 2317 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 3 58094210 58094210 + missense_variant Missense_Mutation SNP A A G TCGA-DU-5855-01 TCGA-DU-5855-10 Untested Somatic Phase_I WXS none Illumina GAIIx 21 12 ENST00000490882.1:c.1967A>G p.Glu656Gly p.E656G ENST00000490882 NM_001164317.1 656 gAg/gGg 0 0.448 CCAGGTTTGGAGAAATCTGGA LEKR1 389170 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 3 156763496 156763496 + missense_variant Missense_Mutation SNP A A G TCGA-DU-5855-01 TCGA-DU-5855-10 Untested Somatic Phase_I WXS none Illumina GAIIx 58 31 ENST00000356539.4:c.2036A>G p.Gln679Arg p.Q679R ENST00000356539 NM_001004316.2 679 cAg/cGg 0 0.547 GAGACTAGACAGAGACTGGCT IGF2BP2 10644 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 3 185393095 185393095 + synonymous_variant Silent SNP G G A TCGA-DU-5855-01 TCGA-DU-5855-10 Untested Somatic Phase_I WXS none Illumina GAIIx 134 17 ENST00000382199.2:c.1060C>T p.Leu354= p.L354= ENST00000382199 NM_006548.4 354 Ctg/Ttg 0 0.463 TTAACAGCCAGCATATCATTT ANK2 287 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 4 114280346 114280346 + synonymous_variant Silent SNP C C T TCGA-DU-5855-01 TCGA-DU-5855-10 Untested Somatic Phase_I WXS none Illumina GAIIx 77 17 ENST00000357077.4:c.10572C>T p.Thr3524= p.T3524= ENST00000357077 NM_001148.4 3524 acC/acT 0 0.473 CTGTTGAGACCGAGCACTCAG SEC24D 9871 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 4 119649799 119649799 + synonymous_variant Silent SNP G G A TCGA-DU-5855-01 TCGA-DU-5855-10 Untested Somatic Phase_I WXS none Illumina GAIIx 51 9 ENST00000280551.6:c.2875C>T p.Leu959= p.L959= ENST00000280551 959 Ctg/Ttg 0 0.303 ACTTCAGGCAGCAATGTCTTA GFM2 84340 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 5 74034187 74034187 + missense_variant Missense_Mutation SNP A A C TCGA-DU-5855-01 TCGA-DU-5855-10 Untested Somatic Phase_I WXS none Illumina GAIIx 83 88 ENST00000296805.3:c.1276T>G p.Ser426Ala p.S426A ENST00000296805 NM_032380.4 426 Tca/Gca 0 0.333 GCAGTCAATGAAGGGATTTCT PCDHAC1 56135 hgsc.bcm.edu;broad.mit.edu GRCh37 5 140308171 140308171 + missense_variant Missense_Mutation SNP T T C TCGA-DU-5855-01 TCGA-DU-5855-10 Untested Somatic Phase_I WXS none Illumina GAIIx 108 7 ENST00000253807.2:c.1694T>C p.Val565Ala p.V565A ENST00000253807 NM_018898.3 565 gTc/gCc 0 0.473 AATGGTTCTGTCCCAGTGGAA STK10 6793 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 5 171520604 171520604 + missense_variant Missense_Mutation SNP C C T TCGA-DU-5855-01 TCGA-DU-5855-10 Untested Somatic Phase_I WXS none Illumina GAIIx 56 10 ENST00000176763.5:c.1366G>A p.Ala456Thr p.A456T ENST00000176763 NM_005990.3 456 Gcc/Acc 0 0.647 GTCTCCAGGGCGCTGCTGTTG NPC1L1 29881 hgsc.bcm.edu;ucsc.edu GRCh37 7 44579068 44579068 + missense_variant Missense_Mutation SNP C C T rs79803700 byFrequency TCGA-DU-5855-01 TCGA-DU-5855-10 Untested Somatic Phase_I WXS none Illumina GAIIx 98 19 ENST00000289547.4:c.928G>A p.Ala310Thr p.A310T ENST00000289547 NM_013389.2 310 Gcc/Acc 0 0.602 TTGTCCCTGGCGGGGGCCACA LMTK2 22853 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 7 97823142 97823142 + missense_variant Missense_Mutation SNP G G A TCGA-DU-5855-01 TCGA-DU-5855-10 Untested Somatic Phase_I WXS none Illumina GAIIx 39 29 ENST00000297293.5:c.3365G>A p.Gly1122Glu p.G1122E ENST00000297293 NM_014916.3 1122 gGa/gAa 0 0.607 GAGGTCCCGGGAACCTCCCCA COG5 10466 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 7 107204267 107204267 + synonymous_variant Silent SNP G G C TCGA-DU-5855-01 TCGA-DU-5855-10 Untested Somatic Phase_I WXS none Illumina GAIIx 24 11 ENST00000297135.3:c.168C>G p.Val56= p.V56= ENST00000297135 NM_006348.3 56 gtC/gtG 0 0.667 GAAGTTCCCGGACTGTAGCTG PLXNA4 91584 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 7 131848964 131848964 + synonymous_variant Silent SNP G G A TCGA-DU-5855-01 TCGA-DU-5855-10 Untested Somatic Phase_I WXS none Illumina GAIIx 32 8 ENST00000359827.3:c.4437C>T p.Gly1479= p.G1479= ENST00000359827 1479 ggC/ggT 0 0.592 AGCGGGCCTCGCCCGTGATGG SHH 6469 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 7 155599004 155599004 + missense_variant Missense_Mutation SNP C C T TCGA-DU-5855-01 TCGA-DU-5855-10 Untested Somatic Phase_I WXS none Illumina GAIIx 88 25 ENST00000297261.2:c.548G>A p.Cys183Tyr p.C183Y ENST00000297261 NM_000193.2 183 tGc/tAc 0 0.622 TTTCACCGAGCAGTGGATATG EPPK1 83481 hgsc.bcm.edu;broad.mit.edu GRCh37 8 144942235 144942235 + synonymous_variant Silent SNP G G A TCGA-DU-5855-01 TCGA-DU-5855-10 Untested Somatic Phase_I WXS none Illumina GAIIx 58 35 ENST00000525985.1:c.5187C>T p.Phe1729= p.F1729= ENST00000525985 NM_031308.2 1729 ttC/ttT 0 0.622 TGTTGGGGTCGAAGAAGCCCT SVEP1 79987 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 9 113139596 113139596 + missense_variant Missense_Mutation SNP C C A TCGA-DU-5855-01 TCGA-DU-5855-10 Untested Somatic Phase_I WXS none Illumina GAIIx 45 20 ENST00000401783.2:c.10459G>T p.Ala3487Ser p.A3487S ENST00000401783 NM_153366.3 3487 Gct/Tct 0 0.507 CAGGAACAAGCATTTGGGCGT MAGEB10 139422 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 27840125 27840125 + synonymous_variant Silent SNP C C T TCGA-DU-5855-01 TCGA-DU-5855-10 Untested Somatic Phase_I WXS none Illumina GAIIx 44 8 ENST00000356790.2:c.702C>T p.Asp234= p.D234= ENST00000356790 NM_182506.3 234 gaC/gaT 0 0.468 GGTTATATGACGGAATTGAGC ARHGEF6 9459 hgsc.bcm.edu;broad.mit.edu GRCh37 X 135825810 135825810 + stop_gained Nonsense_Mutation SNP C C A TCGA-DU-5855-01 TCGA-DU-5855-10 Untested Somatic Phase_I WXS none Illumina GAIIx 222 13 ENST00000250617.6:c.595G>T p.Glu199Ter p.E199* ENST00000250617 NM_004840.2 199 Gaa/Taa 0 0.408 AATGTGCCTTCCCACCAGCCT MAGEC3 139081 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 140969496 140969496 + missense_variant Missense_Mutation SNP C C A TCGA-DU-5855-01 TCGA-DU-5855-10 Untested Somatic Phase_I WXS none Illumina GAIIx 215 32 ENST00000298296.1:c.823C>A p.Leu275Ile p.L275I ENST00000298296 NM_138702.1 275 Ctc/Atc 0 0.502 CCAGAACCGCCTCCTGATTCT TMEM9 252839 broad.mit.edu;ucsc.edu GRCh37 1 201112999 201112999 + missense_variant Missense_Mutation SNP G G C TCGA-DU-5855-01 TCGA-DU-5855-10 Untested Somatic Phase_I WXS none Illumina GAIIx 42 4 ENST00000367330.1:c.348C>G p.Ile116Met p.I116M ENST00000367330 NM_001288565.1 116 atC/atG 0 0.572 CCGGCTTTCGGATCAGAGGGT FOSB 2354 broad.mit.edu;ucsc.edu GRCh37 19 45974181 45974181 + missense_variant Missense_Mutation SNP C C T TCGA-DU-5855-01 TCGA-DU-5855-10 Untested Somatic Phase_I WXS none Illumina GAIIx 28 15 ENST00000353609.3:c.421C>T p.Arg141Trp p.R141W ENST00000353609 NM_006732.2 141 Cgg/Tgg 0 0.632 AGCCCGAGCCCGGCCTAGGAG MDM4 4194 broad.mit.edu;ucsc.edu GRCh37 1 204518349 204518349 + missense_variant Missense_Mutation SNP A A C TCGA-DU-5855-01 TCGA-DU-5855-10 Untested Somatic Phase_I WXS none Illumina GAIIx 121 15 ENST00000367182.3:c.1012A>C p.Thr338Pro p.T338P ENST00000367182 NM_001278516.1 338 Acc/Ccc 0 0.428 TTCAAAGTTAACCCATTCTCT KRT73 319101 broad.mit.edu;ucsc.edu GRCh37 12 53008406 53008406 + missense_variant Missense_Mutation SNP G G A TCGA-DU-5855-01 TCGA-DU-5855-10 Untested Somatic Phase_I WXS none Illumina GAIIx 47 5 ENST00000305748.3:c.776C>T p.Ala259Val p.A259V ENST00000305748 NM_175068.2 259 gCc/gTc 0 0.542 TCCATCCAGGGCATCCACCTT ATRX 546 broad.mit.edu;ucsc.edu GRCh37 X 76909629 76909629 + stop_gained Nonsense_Mutation SNP G G A TCGA-DU-5855-01 TCGA-DU-5855-10 Untested Somatic Phase_I WXS none Illumina GAIIx 102 41 ENST00000373344.5:c.4276C>T p.Arg1426Ter p.R1426* ENST00000373344 NM_000489.3 1426 Cga/Tga 0 0.328 TTAATACGTCGCCTTTTCTTT ASB9 140462 broad.mit.edu;ucsc.edu GRCh37 X 15272893 15272893 + missense_variant Missense_Mutation SNP G G A TCGA-DU-5855-01 TCGA-DU-5855-10 Untested Somatic Phase_I WXS none Illumina GAIIx 205 25 ENST00000380488.4:c.248C>T p.Ser83Phe p.S83F ENST00000380488 NM_001031739.2 83 tCt/tTt 0 0.443 CTTCACACAAGAGAGATGACC PTPRF 5792 broad.mit.edu;ucsc.edu GRCh37 1 44079328 44079328 + missense_variant Missense_Mutation SNP C C T TCGA-DU-5855-01 TCGA-DU-5855-10 Untested Somatic Phase_I WXS none Illumina GAIIx 45 19 ENST00000359947.4:c.4013C>T p.Ala1338Val p.A1338V ENST00000359947 NM_002840.3 1338 gCg/gTg 0 0.597 ACCGACCTGGCGGACAACATC ARID2 196528 broad.mit.edu;hgsc.bcm.edu GRCh37 12 46245951 46245960 + frameshift_variant Frame_Shift_Del DEL ATCAAAAGTG ATCAAAAGTG - TCGA-DU-5855-01 TCGA-DU-5855-10 Untested Somatic Phase_I WXS none Illumina GAIIx 41 19 ENST00000334344.6:c.4047_4056delCAAAAGTGAT p.Lys1350Ter p.K1350* ENST00000334344 NM_152641.2 1349 ATCAAAAGTGat/at 0 0.357 CATGCAAGATATCAAAAGTGATTTGAGAAA TMX2 51075 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 11 57480129 57480129 + synonymous_variant Silent SNP G G A TCGA-HT-A616-01 TCGA-HT-A616-10 Untested Somatic Phase_I WXS none Illumina GAIIx 40 7 ENST00000278422.4:c.39G>A p.Ser13= p.S13= ENST00000278422 NM_015959.3 13 tcG/tcA 0 0.627 TCGTGTATTCGGTGCCGCGAC THBS1 7057 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 15 39884880 39884880 + stop_gained Nonsense_Mutation SNP C C T TCGA-HT-A616-01 TCGA-HT-A616-10 Untested Somatic Phase_I WXS none Illumina GAIIx 36 18 ENST00000260356.5:c.2644C>T p.Gln882Ter p.Q882* ENST00000260356 NM_003246.2 882 Cag/Tag 0 0.502 CAATGCCAACCAGGCTGACCA SPINT1 6692 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 15 41146276 41146276 + missense_variant Missense_Mutation SNP G G A rs138167951 TCGA-HT-A616-01 TCGA-HT-A616-10 Untested Somatic Phase_I WXS none Illumina GAIIx 126 52 ENST00000344051.4:c.980G>A p.Arg327His p.R327H ENST00000344051 327 cGc/cAc 0 0.592 ATGGAAAGGCGCCATCCAGGT ANKRD13B 124930 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 27939276 27939276 + missense_variant Missense_Mutation SNP T T G TCGA-HT-A616-01 TCGA-HT-A616-10 Untested Somatic Phase_I WXS none Illumina GAIIx 86 32 ENST00000394859.3:c.1243T>G p.Phe415Val p.F415V ENST00000394859 NM_152345.4 415 Ttc/Gtc 0 0.622 GCCTCCTGGCTTCCCAGTTAA ABCA9 10350 hgsc.bcm.edu;broad.mit.edu GRCh37 17 66982397 66982397 + synonymous_variant Silent SNP C C T TCGA-HT-A616-01 TCGA-HT-A616-10 Untested Somatic Phase_I WXS none Illumina GAIIx 119 8 ENST00000340001.4:c.4116G>A p.Ala1372= p.A1372= ENST00000340001 NM_080283.3 1372 gcG/gcA 0 0.547 TGGGCCACAGCGCATTCTCCT DSG2 1829 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 18 29126141 29126141 + missense_variant Missense_Mutation SNP G G C TCGA-HT-A616-01 TCGA-HT-A616-10 Untested Somatic Phase_I WXS none Illumina GAIIx 78 66 ENST00000261590.8:c.2792G>C p.Arg931Thr p.R931T ENST00000261590 NM_001943.3 931 aGa/aCa 0 0.473 ATGGCTTCTAGAAATGTGATA RTTN 25914 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 18 67695981 67695981 + synonymous_variant Silent SNP A A C TCGA-HT-A616-01 TCGA-HT-A616-10 Untested Somatic Phase_I WXS none Illumina GAIIx 20 5 ENST00000255674.6:c.5802T>G p.Leu1934= p.L1934= ENST00000255674 NM_173630.3 1934 ctT/ctG 0 0.308 CATTTTGATAAAGACAGTTTC PRODH2 58510 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 19 36293163 36293163 + synonymous_variant Silent SNP G G T TCGA-HT-A616-01 TCGA-HT-A616-10 Untested Somatic Phase_I WXS none Illumina GAIIx 148 13 ENST00000301175.3:c.1356C>A p.Gly452= p.G452= ENST00000301175 NM_021232.1 452 ggC/ggA 0 0.542 CCAGAGGAATGCCCAGCTCCC KCNA7 3743 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 19 49573516 49573516 + missense_variant Missense_Mutation SNP A A G TCGA-HT-A616-01 TCGA-HT-A616-10 Untested Somatic Phase_I WXS none Illumina GAIIx 43 26 ENST00000221444.1:c.1175T>C p.Val392Ala p.V392A ENST00000221444 NM_031886.2 392 gTc/gCc 0 0.567 GGAGACAATGACGGGCACTGG PRR12 57479 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 19 50123629 50123629 + synonymous_variant Silent SNP C C T TCGA-HT-A616-01 TCGA-HT-A616-10 Untested Somatic Phase_I WXS none Illumina GAIIx 16 7 ENST00000418929.2:c.5518C>T p.Leu1840= p.L1840= ENST00000418929 NM_020719.1 1840 Ctg/Ttg 0 0.567 ACCTGGGCGTCTGCTCAAAAC TTN 7273 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 179453926 179453926 + synonymous_variant Silent SNP A A G TCGA-HT-A616-01 TCGA-HT-A616-10 Untested Somatic Phase_I WXS none Illumina GAIIx 67 54 ENST00000589042.1:c.62526T>C p.Tyr20842= p.Y20842= ENST00000589042 NM_001267550.1 20842 taT/taC 0 0.413 CCGTAACTACATATTTACCCC TTN 7273 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 179579894 179579894 + synonymous_variant Silent SNP G G A TCGA-HT-A616-01 TCGA-HT-A616-10 Untested Somatic Phase_I WXS none Illumina GAIIx 105 62 ENST00000589042.1:c.26019C>T p.His8673= p.H8673= ENST00000589042 NM_001267550.1 8673 caC/caT 0 0.443 ACCAAGAAACGTGAAATGGGG IDH1 3417 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T rs121913500 TCGA-HT-A616-01 TCGA-HT-A616-10 Untested Somatic Phase_I WXS none Illumina GAIIx 51 16 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 0.393 ATAAGCATGACGACCTATGAT CCDC54 84692 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 3 107096617 107096617 + synonymous_variant Silent SNP C C T rs144553244 TCGA-HT-A616-01 TCGA-HT-A616-10 Untested Somatic Phase_I WXS none Illumina GAIIx 85 29 ENST00000261058.1:c.183C>T p.Asp61= p.D61= ENST00000261058 NM_032600.2 61 gaC/gaT 0 0.363 ATAGTTATGACGGAAAAATGA CAPN11 11131 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 6 44143857 44143857 + missense_variant Missense_Mutation SNP G G A TCGA-HT-A616-01 TCGA-HT-A616-10 Untested Somatic Phase_I WXS none Illumina GAIIx 28 8 ENST00000398776.1:c.884G>A p.Gly295Glu p.G295E ENST00000398776 NM_007058.3 295 gGg/gAg 0 0.557 CTGGTGAGAGGGCACGCTTAC MAGEB4 4115 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 30260295 30260295 + missense_variant Missense_Mutation SNP C C T TCGA-HT-A616-01 TCGA-HT-A616-10 Untested Somatic Phase_I WXS none Illumina GAIIx 52 16 ENST00000378982.2:c.43C>T p.Arg15Cys p.R15C ENST00000378982 NM_002367.3 15 Cgc/Tgc 0 0.567 CCGTGAGAAACGCCAGCGGAC ATRX 546 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 76939697 76939697 + stop_gained Nonsense_Mutation SNP C C A TCGA-HT-A616-01 TCGA-HT-A616-10 Untested Somatic Phase_I WXS none Illumina GAIIx 71 39 ENST00000373344.5:c.1051G>T p.Glu351Ter p.E351* ENST00000373344 NM_000489.3 351 Gag/Tag 0 0.353 TTAATCATCTCTTTGGGCACA RGAG1 57529 hgsc.bcm.edu;broad.mit.edu GRCh37 X 109694050 109694050 + missense_variant Missense_Mutation SNP C C G TCGA-HT-A616-01 TCGA-HT-A616-10 Untested Somatic Phase_I WXS none Illumina GAIIx 316 26 ENST00000465301.2:c.205C>G p.Pro69Ala p.P69A ENST00000465301 NM_020769.2 69 Cca/Gca 0 0.517 GATGACATCTCCAGTCTTTGA MCF2 4168 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 138711938 138711938 + missense_variant Missense_Mutation SNP T T A TCGA-HT-A616-01 TCGA-HT-A616-10 Untested Somatic Phase_I WXS none Illumina GAIIx 147 82 ENST00000519895.1:c.534A>T p.Glu178Asp p.E178D ENST00000519895 NM_001171876.1 178 gaA/gaT 0 0.398 TCTCAGCCAGTTCAGTTCCAA CD99L2 83692 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 149938823 149938823 + synonymous_variant Silent SNP G G A rs147156476 byFrequency TCGA-HT-A616-01 TCGA-HT-A616-10 Untested Somatic Phase_I WXS none Illumina GAIIx 39 20 ENST00000370377.3:c.675C>T p.Tyr225= p.Y225= ENST00000370377 NM_031462.3 225 taC/taT 0 0.537 CTCCCTTCACGTAGTCTGCGT HMGB3 3149 hgsc.bcm.edu;broad.mit.edu GRCh37 X 150156360 150156360 + synonymous_variant Silent SNP G G A TCGA-HT-A616-01 TCGA-HT-A616-10 Untested Somatic Phase_I WXS none Illumina GAIIx 62 5 ENST00000325307.7:c.576G>A p.Glu192= p.E192= ENST00000325307 NM_005342.2 192 gaG/gaA 0 0.443 aggaagaagaggaggaggagg KIAA1324 57535 broad.mit.edu;ucsc.edu GRCh37 1 109741239 109741239 + missense_variant Missense_Mutation SNP C C G TCGA-HT-A616-01 TCGA-HT-A616-10 Untested Somatic Phase_I WXS none Illumina GAIIx 17 3 ENST00000369939.3:c.2444C>G p.Thr815Ser p.T815S ENST00000369939 NM_020775.4 815 aCc/aGc 0 0.532 AGATCAACCACCATCCGCGTC CCAR1 55749 broad.mit.edu;hgsc.bcm.edu GRCh37 10 70513778 70513779 + frameshift_variant Frame_Shift_Ins INS - - A TCGA-HT-A616-01 TCGA-HT-A616-10 Untested Somatic Phase_I WXS none Illumina GAIIx 69 32 ENST00000265872.6:c.1295dupA p.Asn432LysfsTer6 p.N432Kfs*6 ENST00000265872 NM_018237.2 430 gaa/gAaa 0 0.381 AGAGTCCTTAGAAAAAAATATG FPR3 2359 hgsc.bcm.edu;broad.mit.edu GRCh37 19 52327322 52327322 + synonymous_variant Silent SNP C C A TCGA-P5-A5EY-01 TCGA-P5-A5EY-10 Untested Somatic Phase_I WXS none Illumina GAIIx 87 7 ENST00000339223.4:c.321C>A p.Ile107= p.I107= ENST00000339223 NM_002030.3 107 atC/atA 0 0.478 TGATAGACATCAACCTGTTTG ROM1 6094 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 11 62380964 62380964 + missense_variant Missense_Mutation SNP G G A TCGA-HT-8114-01 TCGA-HT-8114-10 Untested Somatic Phase_I WXS none Illumina GAIIx 30 5 ENST00000278833.3:c.211G>A p.Ala71Thr p.A71T ENST00000278833 NM_000327.3 71 Gcg/Acg 0 0.667 GGCAGCGGGCGCGGTGGCTCT SRPR 6734 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 11 126134414 126134414 + missense_variant Missense_Mutation SNP C C T TCGA-HT-8114-01 TCGA-HT-8114-10 Untested Somatic Phase_I WXS none Illumina GAIIx 61 8 ENST00000332118.6:c.1546G>A p.Val516Met p.V516M ENST00000332118 NM_003139.3 516 Gtg/Atg 0 0.507 ACCAGCACCACGTCAAAGCCT GAS6 2621 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 13 114531664 114531664 + synonymous_variant Silent SNP C C T TCGA-HT-8114-01 TCGA-HT-8114-10 Untested Somatic Phase_I WXS none Illumina GAIIx 78 13 ENST00000327773.6:c.1164G>A p.Ala388= p.A388= ENST00000327773 NM_000820.2 388 gcG/gcA 0 0.537 CCAGATTCCGCGCCAGCTCCT ZC3H14 79882 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 14 89044401 89044401 + missense_variant Missense_Mutation SNP T T C TCGA-HT-8114-01 TCGA-HT-8114-10 Untested Somatic Phase_I WXS none Illumina GAIIx 75 28 ENST00000251038.5:c.1196T>C p.Val399Ala p.V399A ENST00000251038 NM_024824.4 399 gTc/gCc 0 0.388 GCAGAAGTGGTCCAGGGACAA TP53 7157 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 7578291 7578291 + splice_acceptor_variant Splice_Site SNP T T C TCGA-HT-8114-01 TCGA-HT-8114-10 Untested Somatic Phase_I WXS none Illumina GAIIx 16 29 ENST00000269305.4:c.560-2A>G p.X187_splice ENST00000269305 NM_001126112.2 0 0.552 GGGCCAGACCTAAGAGCAATC TP53 7157 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 7578394 7578394 + missense_variant Missense_Mutation SNP T T C TCGA-HT-8114-01 TCGA-HT-8114-10 Untested Somatic Phase_I WXS none Illumina GAIIx 61 10 ENST00000269305.4:c.536A>G p.His179Arg p.H179R ENST00000269305 NM_001126112.2 179 cAt/cGt 0 0.642 GCAGCGCTCATGGTGGGGGCA ZNF235 9310 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 19 44793178 44793178 + missense_variant Missense_Mutation SNP T T C TCGA-HT-8114-01 TCGA-HT-8114-10 Untested Somatic Phase_I WXS none Illumina GAIIx 126 10 ENST00000291182.4:c.410A>G p.His137Arg p.H137R ENST00000291182 NM_004234.4 137 cAt/cGt 0 0.438 GGGGGAATCATGGTGCTTGGG ITSN1 6453 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 21 35183494 35183494 + synonymous_variant Silent SNP G G A TCGA-HT-8114-01 TCGA-HT-8114-10 Untested Somatic Phase_I WXS none Illumina GAIIx 113 10 ENST00000381318.3:c.2535G>A p.Thr845= p.T845= ENST00000381318 NM_003024.2 845 acG/acA 0 0.547 AGCCCTCCACGACCCCTAATA IDH1 3417 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T rs121913500 TCGA-HT-8114-01 TCGA-HT-8114-10 Untested Somatic Phase_I WXS none Illumina GAIIx 50 46 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 0.393 ATAAGCATGACGACCTATGAT PCDH12 51294 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 5 141325159 141325159 + missense_variant Missense_Mutation SNP G G C TCGA-HT-8114-01 TCGA-HT-8114-10 Untested Somatic Phase_I WXS none Illumina GAIIx 46 5 ENST00000231484.3:c.3342C>G p.Ser1114Arg p.S1114R ENST00000231484 NM_016580.3 1114 agC/agG 0 0.662 CCAGCAGTGAGCTCATCTCCG FAT2 2196 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 5 150932869 150932869 + missense_variant Missense_Mutation SNP G G A TCGA-HT-8114-01 TCGA-HT-8114-10 Untested Somatic Phase_I WXS none Illumina GAIIx 57 23 ENST00000261800.5:c.4025C>T p.Pro1342Leu p.P1342L ENST00000261800 NM_001447.2 1342 cCg/cTg 0 0.582 GATGGAGGACGGCCGGGGCCA ATAD2 29028 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 8 124351613 124351613 + missense_variant Missense_Mutation SNP T T C TCGA-HT-8114-01 TCGA-HT-8114-10 Untested Somatic Phase_I WXS none Illumina GAIIx 24 11 ENST00000287394.5:c.2792A>G p.Lys931Arg p.K931R ENST00000287394 NM_014109.3 931 aAa/aGa 0 0.274 TTCAAAAAATTTTGTCCGTTC HDX 139324 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 83724060 83724060 + missense_variant Missense_Mutation SNP G G T TCGA-HT-8114-01 TCGA-HT-8114-10 Untested Somatic Phase_I WXS none Illumina GAIIx 86 10 ENST00000297977.5:c.671C>A p.Pro224Gln p.P224Q ENST00000297977 NM_001177479.1 224 cCa/cAa 0 0.413 AATCCCAACTGGTTCAATTTT RP11-248G5.8 broad.mit.edu;ucsc.edu GRCh37 13 52865661 52865661 + non_coding_transcript_exon_variant RNA SNP C C A TCGA-HT-8114-01 TCGA-HT-8114-10 Untested Somatic Phase_I WXS none Illumina GAIIx 17 4 ENST00000451298.1:n.32G>T *11* ENST00000451298 0 0.289 AAGGATGACACAATTGAATGA ATRX 546 broad.mit.edu;hgsc.bcm.edu GRCh37 X 76937602 76937603 + frameshift_variant Frame_Shift_Ins INS - - T TCGA-HT-8114-01 TCGA-HT-8114-10 Untested Somatic Phase_I WXS none Illumina GAIIx 46 36 ENST00000373344.5:c.3145dupA p.Ile1049AsnfsTer4 p.I1049Nfs*4 ENST00000373344 NM_000489.3 1049 ata/aAta 0 0.327 TTTATCTCTTATTTTTTTACTT ATRX 546 broad.mit.edu GRCh37 X 76938089 76938092 + frameshift_variant Frame_Shift_Del DEL TCTC TCTC - rs141180098 TCGA-HT-8114-01 TCGA-HT-8114-10 Untested Somatic Phase_I WXS none Illumina GAIIx 208 25 ENST00000373344.5:c.2656_2659delGAGA p.Glu886LeufsTer18 p.E886Lfs*18 ENST00000373344 NM_000489.3 886 GAGAct/ct 0 0.412 GAAGAGAAAGTCTCTCTCTCTTGT PAPOLA 10914 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 14 97031339 97031339 + missense_variant Missense_Mutation SNP T T G TCGA-HT-7610-01 TCGA-HT-7610-10 Untested Somatic Phase_I WXS none Illumina GAIIx 77 33 ENST00000216277.8:c.2190T>G p.Asn730Lys p.N730K ENST00000216277 NM_032632.4 730 aaT/aaG 0 0.373 TCCCTGCAAATCCTATTCCTG HBZ 3050 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 16 202926 202926 + synonymous_variant Silent SNP T T C TCGA-HT-7610-01 TCGA-HT-7610-10 Untested Somatic Phase_I WXS none Illumina GAIIx 53 24 ENST00000252951.2:c.18T>C p.Thr6= p.T6= ENST00000252951 NM_005332.2 6 acT/acC 0 0.612 TGACCAAGACTGAGAGGACCA SENP3 26168 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 7474041 7474041 + stop_gained Nonsense_Mutation SNP C C T TCGA-HT-7610-01 TCGA-HT-7610-10 Untested Somatic Phase_I WXS none Illumina GAIIx 23 8 ENST00000429205.2:c.1522C>T p.Arg508Ter p.R508* ENST00000429205 508 Cga/Tga 0 0.473 AAAGAAAGACCGACTGGATTT TP53 7157 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 7577593 7577593 + missense_variant Missense_Mutation SNP T T G TCGA-HT-7610-01 TCGA-HT-7610-10 Untested Somatic Phase_I WXS none Illumina GAIIx 63 21 ENST00000269305.4:c.688A>C p.Thr230Pro p.T230P ENST00000269305 NM_001126112.2 230 Acc/Ccc 0 0.532 TGGATGGTGGTACAGTCAGAG TP53 7157 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 7578507 7578507 + missense_variant Missense_Mutation SNP G G C TCGA-HT-7610-01 TCGA-HT-7610-10 Untested Somatic Phase_I WXS none Illumina GAIIx 30 32 ENST00000269305.4:c.423C>G p.Cys141Trp p.C141W ENST00000269305 NM_001126112.2 141 tgC/tgG 0 0.577 GCTGCACAGGGCAGGTCTTGG KRT27 342574 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 38936093 38936093 + synonymous_variant Silent SNP G G A TCGA-HT-7610-01 TCGA-HT-7610-10 Untested Somatic Phase_I WXS none Illumina GAIIx 42 13 ENST00000301656.3:c.705C>T p.Cys235= p.C235= ENST00000301656 NM_181537.3 235 tgC/tgT 0 0.483 CTCCAGCCGCGCACTGAAGAG ABCG5 64240 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 44047075 44047075 + missense_variant Missense_Mutation SNP A A G TCGA-HT-7610-01 TCGA-HT-7610-10 Untested Somatic Phase_I WXS none Illumina GAIIx 114 21 ENST00000260645.1:c.1628T>C p.Leu543Pro p.L543P ENST00000260645 NM_022436.2 543 cTt/cCt 0 0.368 AGATCCAACAAGCACCCCCGC IDH1 3417 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T rs121913500 TCGA-HT-7610-01 TCGA-HT-7610-10 Untested Somatic Phase_I WXS none Illumina GAIIx 83 32 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 0.393 ATAAGCATGACGACCTATGAT TRIP12 9320 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 230668911 230668911 + stop_gained Nonsense_Mutation SNP G G A TCGA-HT-7610-01 TCGA-HT-7610-10 Untested Somatic Phase_I WXS none Illumina GAIIx 75 34 ENST00000283943.5:c.2458C>T p.Arg820Ter p.R820* ENST00000283943 NM_004238.1 820 Cga/Tga 0 0.363 AGCTGTGCTCGAGCATCATCC ASTE1 28990 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 3 130732931 130732931 + synonymous_variant Silent SNP C C T TCGA-HT-7610-01 TCGA-HT-7610-10 Untested Somatic Phase_I WXS none Illumina GAIIx 72 14 ENST00000264992.3:c.2010G>A p.Glu670= p.E670= ENST00000264992 NM_014065.2 670 gaG/gaA 0 0.393 CACTATGTTCCTCTAAGTTTT LPHN3 23284 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 4 62813869 62813869 + missense_variant Missense_Mutation SNP C C T TCGA-HT-7610-01 TCGA-HT-7610-10 Untested Somatic Phase_I WXS none Illumina GAIIx 27 7 ENST00000514591.1:c.2476C>T p.Arg826Cys p.R826C ENST00000514591 826 Cgt/Tgt 0 0.388 CTACTCCAAGCGTACAATGAC GPR124 25960 hgsc.bcm.edu;broad.mit.edu GRCh37 8 37698691 37698691 + synonymous_variant Silent SNP C C T TCGA-HT-7610-01 TCGA-HT-7610-10 Untested Somatic Phase_I WXS none Illumina GAIIx 94 11 ENST00000412232.2:c.2835C>T p.Cys945= p.C945= ENST00000412232 NM_032777.9 945 tgC/tgT 0 0.627 ATTTCCTGTGCGCCGGGCTAC SLC26A7 115111 hgsc.bcm.edu;ucsc.edu GRCh37 8 92364100 92364100 + synonymous_variant Silent SNP T T G rs10109254 byFrequency TCGA-HT-7610-01 TCGA-HT-7610-10 Untested Somatic Phase_I WXS none Illumina GAIIx 125 36 ENST00000309536.2:c.1203T>G p.Leu401= p.L401= ENST00000309536 NM_134266.1 401 ctT/ctG 0 0.343 GACCTTTGCTTTACTGGCTGC ATRX 546 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 76890083 76890083 + splice_donor_variant Splice_Site SNP A A C TCGA-HT-7610-01 TCGA-HT-7610-10 Untested Somatic Phase_I WXS none Illumina GAIIx 74 38 ENST00000373344.5:c.4809+2T>G p.X1603_splice ENST00000373344 NM_000489.3 0 0.398 TTCAGCTCTTACCTGTAAAGT STAG2 10735 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 123196967 123196967 + missense_variant,splice_region_variant Missense_Mutation SNP A A T TCGA-HT-7610-01 TCGA-HT-7610-10 Untested Somatic Phase_I WXS none Illumina GAIIx 22 12 ENST00000218089.9:c.1733A>T p.Tyr578Phe p.Y578F ENST00000218089 NM_001042749.1 578 tAc/tTc 0 0.313 ATTTCACAGTACTCTGTAGAT BCOR 54880 broad.mit.edu;ucsc.edu GRCh37 X 39931690 39931690 + missense_variant Missense_Mutation SNP G G A TCGA-HT-7610-01 TCGA-HT-7610-10 Untested Somatic Phase_I WXS none Illumina GAIIx 24 4 ENST00000378444.4:c.2909C>T p.Ala970Val p.A970V ENST00000378444 NM_001123385.1 970 gCg/gTg 0 0.527 CACGTAACCCGCTGAGTTGGC F5 2153 broad.mit.edu;ucsc.edu GRCh37 1 169519050 169519050 + stop_gained Nonsense_Mutation SNP G G A TCGA-HT-7610-01 TCGA-HT-7610-10 Untested Somatic Phase_I WXS none Illumina GAIIx 36 4 ENST00000367797.3:c.1600C>T p.Gln534Ter p.Q534* ENST00000367797 NM_000130.4 534 Caa/Taa 0 0.428 TGTATTCCTTGCCTGTCCAGG OR8I2 120586 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 11 55860898 55860898 + missense_variant Missense_Mutation SNP G G C TCGA-E1-5303-01 TCGA-E1-5303-10 Untested Somatic Phase_I WXS none Illumina GAIIx 330 159 ENST00000302124.2:c.115G>C p.Val39Leu p.V39L ENST00000302124 NM_001003750.1 39 Gtt/Ctt 0 0.378 TCTATTCACTGTTTTGGGAAA KIAA1377 57562 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 11 101818852 101818852 + missense_variant Missense_Mutation SNP G G A TCGA-E1-5303-01 TCGA-E1-5303-10 Untested Somatic Phase_I WXS none Illumina GAIIx 77 46 ENST00000263468.8:c.485G>A p.Arg162His p.R162H ENST00000263468 NM_020802.2 162 cGt/cAt 0 0.348 CCCTTTTCCCGTAGACCAACA ARID2 196528 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 12 46242662 46242662 + stop_gained Nonsense_Mutation SNP C C T TCGA-E1-5303-01 TCGA-E1-5303-10 Untested Somatic Phase_I WXS none Illumina GAIIx 96 46 ENST00000334344.6:c.1624C>T p.Arg542Ter p.R542* ENST00000334344 NM_152641.2 542 Cga/Tga 0 0.343 TTCTGTTTCTCGAGCAGAAAT MED13L 23389 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 12 116460278 116460278 + missense_variant Missense_Mutation SNP G G A TCGA-E1-5303-01 TCGA-E1-5303-10 Untested Somatic Phase_I WXS none Illumina GAIIx 38 15 ENST00000281928.3:c.608C>T p.Ser203Leu p.S203L ENST00000281928 NM_015335.4 203 tCa/tTa 0 0.473 TGGTGCAGGTGAAGACTGAGC OR11H4 390442 hgsc.bcm.edu;broad.mit.edu GRCh37 14 20710969 20710969 + missense_variant Missense_Mutation SNP G G C TCGA-E1-5303-01 TCGA-E1-5303-10 Untested Somatic Phase_I WXS none Illumina GAIIx 103 5 ENST00000315409.2:c.19G>C p.Asp7His p.D7H ENST00000315409 NM_001004479.1 7 Gac/Cac 0 0.418 CTTCTTTGTAGACTTAAGACC TP53 7157 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 7577099 7577099 + missense_variant Missense_Mutation SNP C C T rs121912660 TCGA-E1-5303-01 TCGA-E1-5303-10 Untested Somatic Phase_I WXS none Illumina GAIIx 20 64 ENST00000269305.4:c.839G>A p.Arg280Lys p.R280K ENST00000269305 NM_001126112.2 280 aGa/aAa 0 0.542 GCGCCGGTCTCTCCCAGGACA SRCIN1 80725 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 36714502 36714502 + missense_variant Missense_Mutation SNP C C T TCGA-E1-5303-01 TCGA-E1-5303-10 Untested Somatic Phase_I WXS none Illumina GAIIx 55 42 ENST00000264659.7:c.2162G>A p.Arg721His p.R721H ENST00000264659 NM_025248.2 721 cGc/cAc 0 0.701 GTTGAGATAGCGCAGCCGTTC EMILIN2 84034 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 18 2913269 2913269 + missense_variant Missense_Mutation SNP T T C TCGA-E1-5303-01 TCGA-E1-5303-10 Untested Somatic Phase_I WXS none Illumina GAIIx 62 32 ENST00000254528.3:c.3029T>C p.Leu1010Pro p.L1010P ENST00000254528 NM_032048.2 1010 cTc/cCc 0 0.592 GCATTCCACCTCATCGTGCAC FZR1 51343 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 19 3532532 3532532 + missense_variant Missense_Mutation SNP G G C TCGA-E1-5303-01 TCGA-E1-5303-10 Untested Somatic Phase_I WXS none Illumina GAIIx 56 7 ENST00000395095.3:c.1126G>C p.Gly376Arg p.G376R ENST00000395095 NM_001136198.1 376 Ggc/Cgc 0 0.652 CTCGGGGGGCGGCACAGCTGA PLA2G4A 5321 hgsc.bcm.edu;broad.mit.edu GRCh37 1 186948459 186948459 + missense_variant Missense_Mutation SNP A A G TCGA-E1-5303-01 TCGA-E1-5303-10 Untested Somatic Phase_I WXS none Illumina GAIIx 150 8 ENST00000367466.3:c.1973A>G p.Glu658Gly p.E658G ENST00000367466 NM_024420.2 658 gAa/gGa 0 0.333 GTTCCAAGGGAAACTGAGGAA CHD6 84181 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 20 40045243 40045243 + synonymous_variant Silent SNP C C T TCGA-E1-5303-01 TCGA-E1-5303-10 Untested Somatic Phase_I WXS none Illumina GAIIx 190 86 ENST00000373233.3:c.6471G>A p.Ala2157= p.A2157= ENST00000373233 NM_032221.4 2157 gcG/gcA 0 0.552 GGATCTGGGCCGCCAATGCTG TTN 7273 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 179456089 179456089 + synonymous_variant Silent SNP G G A TCGA-E1-5303-01 TCGA-E1-5303-10 Untested Somatic Phase_I WXS none Illumina GAIIx 593 284 ENST00000589042.1:c.60363C>T p.Thr20121= p.T20121= ENST00000589042 NM_001267550.1 20121 acC/acT 0 0.433 AGTGCTCATCGGTTTTAATCT IDH1 3417 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T rs121913500 TCGA-E1-5303-01 TCGA-E1-5303-10 Untested Somatic Phase_I WXS none Illumina GAIIx 108 46 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 0.393 ATAAGCATGACGACCTATGAT SLC23A3 151295 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 220034279 220034279 + missense_variant Missense_Mutation SNP C C T TCGA-E1-5303-01 TCGA-E1-5303-10 Untested Somatic Phase_I WXS none Illumina GAIIx 269 101 ENST00000455516.2:c.284G>A p.Gly95Asp p.G95D ENST00000455516 NM_001144890.1 95 gGt/gAt 0 0.582 GGTAGACATACCACATGAAAA SENP7 57337 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 3 101177814 101177814 + missense_variant Missense_Mutation SNP T T G TCGA-E1-5303-01 TCGA-E1-5303-10 Untested Somatic Phase_I WXS none Illumina GAIIx 433 87 ENST00000394095.2:c.269A>C p.Lys90Thr p.K90T ENST00000394095 NM_020654.3 90 aAg/aCg 0 0.358 TGGTGATGACTTGGAAGTAAC ZMAT3 64393 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 3 178748788 178748788 + splice_acceptor_variant Splice_Site SNP C C G TCGA-E1-5303-01 TCGA-E1-5303-10 Untested Somatic Phase_I WXS none Illumina GAIIx 77 44 ENST00000311417.2:c.271-1G>C p.X91_splice ENST00000311417 NM_022470.3 0 0.398 GATTTTTACCCTAGAAATAAA AFP 174 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 4 74303981 74303981 + missense_variant Missense_Mutation SNP A A C TCGA-E1-5303-01 TCGA-E1-5303-10 Untested Somatic Phase_I WXS none Illumina GAIIx 121 23 ENST00000395792.2:c.228A>C p.Lys76Asn p.K76N ENST00000395792 NM_001134.1 76 aaA/aaC 0 0.363 CAATTGAGAAACCCACTggag SPZ1 84654 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 5 79616896 79616896 + missense_variant Missense_Mutation SNP G G A TCGA-E1-5303-01 TCGA-E1-5303-10 Untested Somatic Phase_I WXS none Illumina GAIIx 130 71 ENST00000296739.4:c.862G>A p.Gly288Ser p.G288S ENST00000296739 NM_032567.3 288 Ggt/Agt 0 0.413 TAATGGAGTCGGTTTCCAAAC GPR98 84059 hgsc.bcm.edu;ucsc.edu GRCh37 5 89914934 89914934 + missense_variant Missense_Mutation SNP C C A TCGA-E1-5303-01 TCGA-E1-5303-10 Untested Somatic Phase_I WXS none Illumina GAIIx 27 5 ENST00000405460.2:c.389C>A p.Pro130Gln p.P130Q ENST00000405460 NM_032119.3 130 cCa/cAa 0 0.259 CTTGGATGGCCAAGGACTGTT TRIM52 84851 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 5 180687093 180687093 + missense_variant Missense_Mutation SNP T T C TCGA-E1-5303-01 TCGA-E1-5303-10 Untested Somatic Phase_I WXS none Illumina GAIIx 171 108 ENST00000327767.4:c.722A>G p.Asp241Gly p.D241G ENST00000327767 NM_032765.2 241 gAc/gGc 0 0.542 GGCCTCTTTGTCCACCTCACA UTRN 7402 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 6 144872125 144872125 + missense_variant Missense_Mutation SNP C C T rs114254210 byFrequency TCGA-E1-5303-01 TCGA-E1-5303-10 Untested Somatic Phase_I WXS none Illumina GAIIx 116 46 ENST00000367545.3:c.6835C>T p.Arg2279Cys p.R2279C ENST00000367545 NM_007124.2 2279 Cgc/Tgc 0 0.338 CTTAGAACAGCGCCATCCTCA COG5 10466 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 7 107002756 107002756 + synonymous_variant Silent SNP T T C TCGA-E1-5303-01 TCGA-E1-5303-10 Untested Somatic Phase_I WXS none Illumina GAIIx 91 12 ENST00000297135.3:c.1038A>G p.Gly346= p.G346= ENST00000297135 NM_006348.3 346 ggA/ggG 0 0.393 TATTTACCTGTCCACAAACAG AGK 55750 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 7 141301025 141301025 + missense_variant Missense_Mutation SNP A A C TCGA-E1-5303-01 TCGA-E1-5303-10 Untested Somatic Phase_I WXS none Illumina GAIIx 154 25 ENST00000355413.4:c.242A>C p.Glu81Ala p.E81A ENST00000355413 NM_018238.3 81 gAa/gCa 0 0.363 ACTCTATTTGAAAAAAATGCT KCNV1 27012 hgsc.bcm.edu;broad.mit.edu GRCh37 8 110984685 110984685 + missense_variant Missense_Mutation SNP G G A TCGA-E1-5303-01 TCGA-E1-5303-10 Untested Somatic Phase_I WXS none Illumina GAIIx 181 12 ENST00000524391.1:c.793C>T p.Arg265Trp p.R265W ENST00000524391 265 Cgg/Tgg 0 0.532 CACCTGTCCCGCACACACAGG C9orf114 51490 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 9 131586077 131586077 + missense_variant Missense_Mutation SNP G G C TCGA-E1-5303-01 TCGA-E1-5303-10 Untested Somatic Phase_I WXS none Illumina GAIIx 10 4 ENST00000361256.5:c.1011C>G p.Asp337Glu p.D337E ENST00000361256 NM_016390.3 337 gaC/gaG 0 0.642 TGACGTACAGGTCAAAGAGGA ZFX 7543 hgsc.bcm.edu;broad.mit.edu GRCh37 X 24229263 24229263 + stop_gained Nonsense_Mutation SNP C C T TCGA-E1-5303-01 TCGA-E1-5303-10 Untested Somatic Phase_I WXS none Illumina GAIIx 181 11 ENST00000379177.1:c.2188C>T p.Gln730Ter p.Q730* ENST00000379177 NM_003410.3 730 Caa/Taa 0 0.408 GGGATTTAGGCAACAGAGTGA HEATR2 54919 broad.mit.edu;ucsc.edu GRCh37 7 813720 813720 + missense_variant Missense_Mutation SNP A A G TCGA-E1-5303-01 TCGA-E1-5303-10 Untested Somatic Phase_I WXS none Illumina GAIIx 158 56 ENST00000297440.6:c.1967A>G p.Asp656Gly p.D656G ENST00000297440 NM_017802.3 656 gAc/gGc 0 0.642 GTGACAAAGGACATCCTGGCC ATRX 546 broad.mit.edu;hgsc.bcm.edu GRCh37 X 76939929 76939930 + frameshift_variant Frame_Shift_Ins INS - - A TCGA-E1-5303-01 TCGA-E1-5303-10 Untested Somatic Phase_I WXS none Illumina GAIIx 123 232 ENST00000373344.5:c.818dupT p.Leu273PhefsTer9 p.L273Ffs*9 ENST00000373344 NM_000489.3 273 ttg/ttTg 0 0.381 CCAAGTCCAACAAAGGCTCTGG KIAA1462 57608 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 10 30316584 30316584 + missense_variant Missense_Mutation SNP C C G TCGA-HT-7482-01 TCGA-HT-7482-10 Untested Somatic Phase_I WXS none Illumina GAIIx 106 15 ENST00000375377.1:c.2493G>C p.Leu831Phe p.L831F ENST00000375377 NM_020848.2 831 ttG/ttC 0 0.557 ACTGACTGATCAAATCCCAGG BRSK2 9024 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 11 1477653 1477653 + missense_variant Missense_Mutation SNP G G A TCGA-HT-7482-01 TCGA-HT-7482-10 Untested Somatic Phase_I WXS none Illumina GAIIx 11 9 ENST00000382179.1:c.1882G>A p.Val628Met p.V628M ENST00000382179 NM_001256630.1 628 Gtg/Atg 0 0.612 GGGGCCAGCCGTGTTCCAGAA SLC6A15 55117 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 12 85255483 85255483 + synonymous_variant Silent SNP A A G TCGA-HT-7482-01 TCGA-HT-7482-10 Untested Somatic Phase_I WXS none Illumina GAIIx 129 9 ENST00000266682.5:c.2121T>C p.Ala707= p.A707= ENST00000266682 NM_182767.5 707 gcT/gcC 0 0.423 GTCCATTGGGAGCAGTATCCA SRL 6345 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 16 4242361 4242361 + synonymous_variant Silent SNP G G A TCGA-HT-7482-01 TCGA-HT-7482-10 Untested Somatic Phase_I WXS none Illumina GAIIx 39 25 ENST00000399609.3:c.1215C>T p.Phe405= p.F405= ENST00000399609 NM_001098814.1 405 ttC/ttT 0 0.493 GATTGATGCCGAAGAAGTCCT TP53 7157 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 7578475 7578475 + missense_variant Missense_Mutation SNP G G A rs137852790 TCGA-HT-7482-01 TCGA-HT-7482-10 Untested Somatic Phase_I WXS none Illumina GAIIx 29 17 ENST00000269305.4:c.455C>T p.Pro152Leu p.P152L ENST00000269305 NM_001126112.2 152 cCg/cTg 0 0.612 GGTGCCGGGCGGGGGTGTGGA IDH1 3417 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 209113113 209113113 + missense_variant Missense_Mutation SNP G G C rs121913499 TCGA-HT-7482-01 TCGA-HT-7482-10 Untested Somatic Phase_I WXS none Illumina GAIIx 53 19 ENST00000345146.2:c.394C>G p.Arg132Gly p.R132G ENST00000345146 NM_005896.2 132 Cgt/Ggt 0 0.398 TAAGCATGACGACCTATGATG DPPA4 55211 hgsc.bcm.edu;broad.mit.edu GRCh37 3 109049418 109049418 + missense_variant Missense_Mutation SNP G G C TCGA-HT-7482-01 TCGA-HT-7482-10 Untested Somatic Phase_I WXS none Illumina GAIIx 57 5 ENST00000335658.6:c.632C>G p.Ala211Gly p.A211G ENST00000335658 NM_018189.3 211 gCc/gGc 0 0.522 CCTCGCCCTGGCTGAAATTCT PLXNA1 5361 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 3 126732904 126732904 + missense_variant Missense_Mutation SNP C C G TCGA-HT-7482-01 TCGA-HT-7482-10 Untested Somatic Phase_I WXS none Illumina GAIIx 120 28 ENST00000393409.2:c.2355C>G p.Asn785Lys p.N785K ENST00000393409 NM_032242.3 785 aaC/aaG 0 0.632 TGCCAGTGAACCTGTCAGTCG KHDRBS2 202559 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 6 62611243 62611243 + missense_variant Missense_Mutation SNP G G A TCGA-HT-7482-01 TCGA-HT-7482-10 Untested Somatic Phase_I WXS none Illumina GAIIx 26 17 ENST00000281156.4:c.517C>T p.Arg173Cys p.R173C ENST00000281156 NM_152688.2 173 Cgt/Tgt 0 0.418 GATAATTCACGTAGTTGTTCC SLC2A12 154091 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 6 134350799 134350799 + missense_variant Missense_Mutation SNP C C G TCGA-HT-7482-01 TCGA-HT-7482-10 Untested Somatic Phase_I WXS none Illumina GAIIx 34 6 ENST00000275230.5:c.164G>C p.Gly55Ala p.G55A ENST00000275230 NM_145176.2 55 gGt/gCt 0 0.517 AAGTTCATAACCCACCAGGAG VPS41 27072 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 7 38796519 38796519 + synonymous_variant Silent SNP G G A rs146405914 TCGA-HT-7482-01 TCGA-HT-7482-10 Untested Somatic Phase_I WXS none Illumina GAIIx 22 10 ENST00000310301.4:c.1614C>T p.Asp538= p.D538= ENST00000310301 NM_014396.3 538 gaC/gaT 0 0.284 ACTGAAAAACGTCTTTATGTC MET 4233 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 7 116381017 116381017 + stop_gained Nonsense_Mutation SNP C C T TCGA-HT-7482-01 TCGA-HT-7482-10 Untested Somatic Phase_I WXS none Illumina GAIIx 86 20 ENST00000397752.3:c.1639C>T p.Arg547Ter p.R547* ENST00000397752 NM_000245.2 547 Cga/Tga 0 0.512 CAAATGTGTGCGATCGGAGGA AKR1B15 441282 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 7 134256364 134256364 + missense_variant Missense_Mutation SNP T T A TCGA-HT-7482-01 TCGA-HT-7482-10 Untested Somatic Phase_I WXS none Illumina GAIIx 74 13 ENST00000457545.2:c.444T>A p.Asp148Glu p.D148E ENST00000457545 NM_001080538.2 148 gaT/gaA 0 0.423 AGACTGGGGATGACTTTTTCC ATRX 546 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 76849221 76849221 + missense_variant Missense_Mutation SNP T T C TCGA-HT-7482-01 TCGA-HT-7482-10 Untested Somatic Phase_I WXS none Illumina GAIIx 62 20 ENST00000373344.5:c.6055A>G p.Lys2019Glu p.K2019E ENST00000373344 NM_000489.3 2019 Aaa/Gaa 0 0.363 AGTACCATTTTCCCAGAATGC RBM41 55285 broad.mit.edu;ucsc.edu GRCh37 X 106310757 106310757 + stop_lost Nonstop_Mutation SNP C C A TCGA-HT-7482-01 TCGA-HT-7482-10 Untested Somatic Phase_I WXS none Illumina GAIIx 161 43 ENST00000372479.3:c.1242G>T p.Ter414TyrextTer13 p.*414Yext*13 ENST00000372479 NM_018301.3 414 taG/taT 0 0.378 TATATATATTCTAGCTACCAC TP53 7157 broad.mit.edu;ucsc.edu GRCh37 17 7577121 7577121 + missense_variant Missense_Mutation SNP G G A rs121913343 TCGA-HT-7482-01 TCGA-HT-7482-10 Untested Somatic Phase_I WXS none Illumina GAIIx 19 8 ENST00000269305.4:c.817C>T p.Arg273Cys p.R273C ENST00000269305 NM_001126112.2 273 Cgt/Tgt 0 0.542 GCACAAACACGCACCTCAAAG ANKRD1 27063 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 10 92678671 92678671 + missense_variant Missense_Mutation SNP A A G TCGA-CS-6186-01 TCGA-CS-6186-10 Untested Somatic Phase_I WXS none Illumina GAIIx 18 19 ENST00000371697.3:c.404T>C p.Val135Ala p.V135A ENST00000371697 NM_014391.2 135 gTa/gCa 0 0.343 TTTTTCTACTACTGGCAGTTT TMEM180 79847 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 10 104233397 104233397 + synonymous_variant Silent SNP C C T TCGA-CS-6186-01 TCGA-CS-6186-10 Untested Somatic Phase_I WXS none Illumina GAIIx 22 31 ENST00000238936.4:c.996C>T p.Tyr332= p.Y332= ENST00000238936 NM_024789.3 332 taC/taT 0 0.637 GGGGCGTCTACGCGGTGGTGC TACC2 10579 hgsc.bcm.edu;broad.mit.edu GRCh37 10 123844064 123844064 + synonymous_variant Silent SNP C C T TCGA-CS-6186-01 TCGA-CS-6186-10 Untested Somatic Phase_I WXS none Illumina GAIIx 2 4 ENST00000369005.1:c.2049C>T p.Pro683= p.P683= ENST00000369005 NM_206862.2 683 ccC/ccT 0 0.582 CCACTGTTCCCGAAGGAGCCA MUC5B 727897 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 11 1271606 1271606 + missense_variant Missense_Mutation SNP C C T TCGA-CS-6186-01 TCGA-CS-6186-10 Untested Somatic Phase_I WXS none Illumina GAIIx 91 60 ENST00000529681.1:c.13496C>T p.Ser4499Phe p.S4499F ENST00000529681 NM_002458.2 4499 tCc/tTc 0 0.642 ACTCCCTCCTCCAGTCCAGGG OR5F1 338674 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 11 55761801 55761801 + missense_variant Missense_Mutation SNP T T A TCGA-CS-6186-01 TCGA-CS-6186-10 Untested Somatic Phase_I WXS none Illumina GAIIx 64 32 ENST00000278409.1:c.301A>T p.Met101Leu p.M101L ENST00000278409 NM_003697.1 101 Atg/Ttg 0 0.463 AAGAAGTACATCTGTAGGAAG PDE2A 5138 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 11 72289381 72289381 + splice_region_variant,synonymous_variant Splice_Region SNP C C T TCGA-CS-6186-01 TCGA-CS-6186-10 Untested Somatic Phase_I WXS none Illumina GAIIx 38 27 ENST00000334456.5:c.2511G>A p.Glu837= p.E837= ENST00000334456 NM_002599.4 837 gaG/gaA 0 0.582 CCATGGCCTTCTCCTGCAGGC OR2AT4 341152 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 11 74800020 74800020 + missense_variant Missense_Mutation SNP T T A TCGA-CS-6186-01 TCGA-CS-6186-10 Untested Somatic Phase_I WXS none Illumina GAIIx 15 11 ENST00000305159.3:c.739A>T p.Ser247Cys p.S247C ENST00000305159 NM_001005285.1 247 Agc/Tgc 0 0.567 AGGTGGGAGCTGCAGGTGGAG ACSM4 341392 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 12 7477158 7477158 + synonymous_variant Silent SNP G G A TCGA-CS-6186-01 TCGA-CS-6186-10 Untested Somatic Phase_I WXS none Illumina GAIIx 36 15 ENST00000399422.4:c.1500G>A p.Ser500= p.S500= ENST00000399422 NM_001080454.1 500 tcG/tcA 0 0.428 TTGTTGAATCGGCTGTTGTCA GUCY2C 2984 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 12 14809526 14809526 + missense_variant Missense_Mutation SNP G G A TCGA-CS-6186-01 TCGA-CS-6186-10 Untested Somatic Phase_I WXS none Illumina GAIIx 42 25 ENST00000261170.3:c.1390C>T p.Arg464Cys p.R464C ENST00000261170 NM_004963.3 464 Cgt/Tgt 0 0.373 TTTTTCTGACGAAGTTCATAA ALG5 29880 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 13 37569684 37569684 + missense_variant Missense_Mutation SNP C C T TCGA-CS-6186-01 TCGA-CS-6186-10 Untested Somatic Phase_I WXS none Illumina GAIIx 42 15 ENST00000239891.3:c.116G>A p.Arg39Gln p.R39Q ENST00000239891 NM_013338.4 39 cGa/cAa 0 0.383 TTCTTCATGTCGATGGAGTGC SYNE3 161176 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 14 95932397 95932397 + synonymous_variant Silent SNP C C T TCGA-CS-6186-01 TCGA-CS-6186-10 Untested Somatic Phase_I WXS none Illumina GAIIx 35 23 ENST00000334258.5:c.498G>A p.Gln166= p.Q166= ENST00000334258 NM_152592.3 166 caG/caA 0 0.637 GGAGCACCGCCTGGTTGTCCA ATP8B4 79895 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 15 50223421 50223421 + missense_variant Missense_Mutation SNP G G A TCGA-CS-6186-01 TCGA-CS-6186-10 Untested Somatic Phase_I WXS none Illumina GAIIx 26 17 ENST00000284509.6:c.1537C>T p.Arg513Trp p.R513W ENST00000284509 NM_024837.3 513 Cgg/Tgg 0 0.398 TCTGGGGTCCGGGATTTAAAA MYO5A 4644 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 15 52622646 52622646 + stop_gained Nonsense_Mutation SNP G G A TCGA-CS-6186-01 TCGA-CS-6186-10 Untested Somatic Phase_I WXS none Illumina GAIIx 75 56 ENST00000399231.3:c.4384C>T p.Arg1462Ter p.R1462* ENST00000399231 NM_000259.3 1462 Cga/Tga 0 0.413 TTGACTGGTCGGATGGGTTCA OR4F6 390648 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 15 102346763 102346763 + missense_variant Missense_Mutation SNP G G A TCGA-CS-6186-01 TCGA-CS-6186-10 Untested Somatic Phase_I WXS none Illumina GAIIx 29 23 ENST00000328882.4:c.841G>A p.Val281Ile p.V281I ENST00000328882 NM_001005326.1 281 Gtt/Att 0 0.343 TATCACTCCCGTTTTGAATCC SPNS1 83985 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 16 28995597 28995597 + missense_variant Missense_Mutation SNP C C T TCGA-CS-6186-01 TCGA-CS-6186-10 Untested Somatic Phase_I WXS none Illumina GAIIx 21 9 ENST00000311008.11:c.1564C>T p.Pro522Ser p.P522S ENST00000311008 NM_032038.2 522 Ccc/Tcc 0 0.697 CACCCGCGTGCCCGTGGCCAG CHST4 10164 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 16 71570880 71570880 + synonymous_variant Silent SNP C C T rs139260372 TCGA-CS-6186-01 TCGA-CS-6186-10 Untested Somatic Phase_I WXS none Illumina GAIIx 37 22 ENST00000338482.5:c.300C>T p.Ala100= p.A100= ENST00000338482 100 gcC/gcT 0 0.582 TGATACGGGCCGTCTTCTTGT ACLY 47 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 40040509 40040509 + missense_variant Missense_Mutation SNP G G C TCGA-CS-6186-01 TCGA-CS-6186-10 Untested Somatic Phase_I WXS none Illumina GAIIx 28 20 ENST00000352035.2:c.2091C>G p.Phe697Leu p.F697L ENST00000352035 NM_001096.2 697 ttC/ttG 0 0.438 CATGATCCATGAATGTGGAGC EPN3 55040 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 48616618 48616618 + missense_variant Missense_Mutation SNP G G A TCGA-CS-6186-01 TCGA-CS-6186-10 Untested Somatic Phase_I WXS none Illumina GAIIx 32 18 ENST00000268933.3:c.833G>A p.Arg278Gln p.R278Q ENST00000268933 NM_017957.2 278 cGg/cAg 0 0.597 CACCATCAGCGGGACAGAGAG CATSPERD 257062 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 19 5727283 5727283 + missense_variant Missense_Mutation SNP G G A TCGA-CS-6186-01 TCGA-CS-6186-10 Untested Somatic Phase_I WXS none Illumina GAIIx 75 29 ENST00000381624.3:c.131G>A p.Arg44His p.R44H ENST00000381624 NM_152784.3 44 cGc/cAc 0 0.338 CTCTAGGACCGCCTGTATTTT SLC8A2 6543 hgsc.bcm.edu;ucsc.edu GRCh37 19 47935494 47935494 + synonymous_variant Silent SNP G G A TCGA-CS-6186-01 TCGA-CS-6186-10 Untested Somatic Phase_I WXS none Illumina GAIIx 59 11 ENST00000236877.6:c.2319C>T p.Phe773= p.F773= ENST00000236877 NM_015063.2 773 ttC/ttT 0 0.627 CGGTGCAGCCGAAGTGGGAGG MYH14 79784 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 19 50750373 50750373 + synonymous_variant Silent SNP G G A TCGA-CS-6186-01 TCGA-CS-6186-10 Untested Somatic Phase_I WXS none Illumina GAIIx 21 8 ENST00000601313.1:c.1323G>A p.Lys441= p.K441= ENST00000601313 NM_001145809.1 441 aaG/aaA 0 0.597 CCCAGACTAAGGAACAGGTAG SELE 6401 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 169698637 169698637 + missense_variant Missense_Mutation SNP G G A TCGA-CS-6186-01 TCGA-CS-6186-10 Untested Somatic Phase_I WXS none Illumina GAIIx 36 39 ENST00000333360.7:c.893C>T p.Thr298Met p.T298M ENST00000333360 NM_000450.2 298 aCg/aTg 0 0.443 ACCTTTACACGTTGGCTTCTC VSX1 30813 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 20 25057044 25057044 + synonymous_variant Silent SNP A A C TCGA-CS-6186-01 TCGA-CS-6186-10 Untested Somatic Phase_I WXS none Illumina GAIIx 64 34 ENST00000376709.4:c.951T>G p.Pro317= p.P317= ENST00000376709 NM_014588.5 317 ccT/ccG 0 0.542 AGCCATTCTCAGGGCTCACTT GREB1 9687 hgsc.bcm.edu;broad.mit.edu GRCh37 2 11725320 11725320 + missense_variant Missense_Mutation SNP G G A TCGA-CS-6186-01 TCGA-CS-6186-10 Untested Somatic Phase_I WXS none Illumina GAIIx 14 14 ENST00000381486.2:c.935G>A p.Arg312His p.R312H ENST00000381486 NM_014668.3 312 cGc/cAc 0 0.512 CCCAAAAAACGCCACAAAGGG CENPA 1058 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 27016113 27016113 + missense_variant Missense_Mutation SNP G G A TCGA-CS-6186-01 TCGA-CS-6186-10 Untested Somatic Phase_I WXS none Illumina GAIIx 134 61 ENST00000335756.4:c.389G>A p.Arg130Gln p.R130Q ENST00000335756 NM_001809.3 130 cGg/cAg 0 0.552 CAACTGGCCCGGAGGATCCGG G6PC2 57818 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 169764413 169764413 + missense_variant Missense_Mutation SNP T T G TCGA-CS-6186-01 TCGA-CS-6186-10 Untested Somatic Phase_I WXS none Illumina GAIIx 78 43 ENST00000375363.3:c.892T>G p.Leu298Val p.L298V ENST00000375363 NM_021176.2 298 Ttg/Gtg 0 0.473 GCTCTGTGCCTTGACCTCATT GPR55 9290 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 231774733 231774733 + synonymous_variant Silent SNP C C T rs146835586 TCGA-CS-6186-01 TCGA-CS-6186-10 Untested Somatic Phase_I WXS none Illumina GAIIx 42 33 ENST00000392040.1:c.945G>A p.Thr315= p.T315= ENST00000392040 NM_005683.3 315 acG/acA 0 0.552 CCCGGGAGATCGTGGTGTCCT COL6A3 1293 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 238275437 238275437 + missense_variant Missense_Mutation SNP C C T TCGA-CS-6186-01 TCGA-CS-6186-10 Untested Somatic Phase_I WXS none Illumina GAIIx 52 31 ENST00000295550.4:c.5393G>A p.Arg1798His p.R1798H ENST00000295550 NM_004369.3 1798 cGc/cAc 0 0.547 GTTGCCCACGCGGAACGCTGT GPR98 84059 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 5 90136725 90136725 + missense_variant Missense_Mutation SNP C C T TCGA-CS-6186-01 TCGA-CS-6186-10 Untested Somatic Phase_I WXS none Illumina GAIIx 25 16 ENST00000405460.2:c.16942C>T p.Leu5648Phe p.L5648F ENST00000405460 NM_032119.3 5648 Ctc/Ttc 0 0.423 CAACAGAGTGCTCCATACCAT PCDH12 51294 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 5 141335542 141335542 + missense_variant Missense_Mutation SNP A A T TCGA-CS-6186-01 TCGA-CS-6186-10 Untested Somatic Phase_I WXS none Illumina GAIIx 15 9 ENST00000231484.3:c.1875T>A p.Asp625Glu p.D625E ENST00000231484 NM_016580.3 625 gaT/gaA 0 0.582 CCGAGTCTGCATCTCTTGCCA SH3TC2 79628 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 5 148411245 148411245 + missense_variant Missense_Mutation SNP C C T TCGA-CS-6186-01 TCGA-CS-6186-10 Untested Somatic Phase_I WXS none Illumina GAIIx 17 17 ENST00000515425.1:c.1007G>A p.Arg336Lys p.R336K ENST00000515425 NM_024577.3 336 aGg/aAg 0 0.522 GGCAGAGTTCCTGCTCCTGCA GRIA1 2890 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 5 153056693 153056693 + missense_variant Missense_Mutation SNP G G A TCGA-CS-6186-01 TCGA-CS-6186-10 Untested Somatic Phase_I WXS none Illumina GAIIx 15 5 ENST00000518783.1:c.1031G>A p.Gly344Glu p.G344E ENST00000518783 NM_001258021.1 344 gGg/gAg 0 0.537 TGGGGCCAAGGGATCGACATC TENM2 57451 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 5 167671581 167671581 + missense_variant Missense_Mutation SNP G G A TCGA-CS-6186-01 TCGA-CS-6186-10 Untested Somatic Phase_I WXS none Illumina GAIIx 39 28 ENST00000518659.1:c.5677G>A p.Val1893Met p.V1893M ENST00000518659 NM_001122679.1 1893 Gtg/Atg 0 0.597 AGCTGTCAACGTGTCATACTT GABRP 2568 hgsc.bcm.edu;ucsc.edu GRCh37 5 170232777 170232777 + missense_variant Missense_Mutation SNP G G A rs112704076 byFrequency TCGA-CS-6186-01 TCGA-CS-6186-10 Untested Somatic Phase_I WXS none Illumina GAIIx 23 22 ENST00000518525.1:c.599G>A p.Arg200His p.R200H ENST00000518525 200 cGt/cAt 0 0.522 GACTCTGTGCGTGGACTGGAA HLA-DMB 3109 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 6 32906668 32906668 + missense_variant Missense_Mutation SNP T T G TCGA-CS-6186-01 TCGA-CS-6186-10 Untested Somatic Phase_I WXS none Illumina GAIIx 54 21 ENST00000418107.2:c.130A>C p.Ile44Leu p.I44L ENST00000418107 NM_002118.4 44 Atc/Ctc 0 0.527 TTGAAGGAGATGCAGTATGTG LAMA4 3910 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 6 112469437 112469437 + missense_variant Missense_Mutation SNP G G C TCGA-CS-6186-01 TCGA-CS-6186-10 Untested Somatic Phase_I WXS none Illumina GAIIx 7 29 ENST00000230538.7:c.2275C>G p.Leu759Val p.L759V ENST00000230538 NM_001105206.2 759 Cta/Gta 0 0.517 CAGTTGGTTAGATTGTTGGCC TCTE3 6991 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 6 170144257 170144257 + synonymous_variant Silent SNP C C T TCGA-CS-6186-01 TCGA-CS-6186-10 Untested Somatic Phase_I WXS none Illumina GAIIx 26 18 ENST00000366774.3:c.234G>A p.Leu78= p.L78= ENST00000366774 NM_174910.1 78 ctG/ctA 0 0.373 TTAATTTTGCCAGGGCACTCT DYNC1I1 1780 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 7 95657632 95657632 + missense_variant,splice_region_variant Missense_Mutation SNP C C T TCGA-CS-6186-01 TCGA-CS-6186-10 Untested Somatic Phase_I WXS none Illumina GAIIx 58 27 ENST00000324972.6:c.1166C>T p.Thr389Met p.T389M ENST00000324972 NM_004411.4 389 aCg/aTg 0 0.493 GCTGCACACACGGTAATGCAA LAMB1 3912 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 7 107616242 107616242 + missense_variant Missense_Mutation SNP C C T TCGA-CS-6186-01 TCGA-CS-6186-10 Untested Somatic Phase_I WXS none Illumina GAIIx 61 25 ENST00000222399.6:c.1081G>A p.Val361Met p.V361M ENST00000222399 NM_002291.2 361 Gtg/Atg 0 0.517 TCATCACACACGCCTCCGCTG DOCK5 80005 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 8 25198440 25198440 + missense_variant Missense_Mutation SNP G G A TCGA-CS-6186-01 TCGA-CS-6186-10 Untested Somatic Phase_I WXS none Illumina GAIIx 9 9 ENST00000276440.7:c.2375G>A p.Arg792His p.R792H ENST00000276440 NM_024940.6 792 cGc/cAc 0 0.398 AATTCAATTCGCCAGTTATTT ASAP1 50807 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 8 131149272 131149272 + missense_variant Missense_Mutation SNP G G T TCGA-CS-6186-01 TCGA-CS-6186-10 Untested Somatic Phase_I WXS none Illumina GAIIx 43 31 ENST00000357668.1:c.1093C>A p.Pro365Thr p.P365T ENST00000357668 365 Cca/Aca 0 0.448 AACTTGGCTGGTTGCCTGTTA MAMDC2 256691 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 9 72724721 72724721 + splice_donor_variant Splice_Site SNP G G A TCGA-CS-6186-01 TCGA-CS-6186-10 Untested Somatic Phase_I WXS none Illumina GAIIx 52 48 ENST00000377182.4:c.505+1G>A p.X169_splice ENST00000377182 NM_153267.4 0 0.368 TACTGTATTGGTAAGTGGGCT GOLGA2 2801 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 9 131022430 131022430 + synonymous_variant Silent SNP C C T TCGA-CS-6186-01 TCGA-CS-6186-10 Untested Somatic Phase_I WXS none Illumina GAIIx 51 35 ENST00000421699.2:c.1716G>A p.Ser572= p.S572= ENST00000421699 NM_004486.4 572 tcG/tcA 0 0.592 CGTGCTGCTCCGACTGCAGTG FAM47B 170062 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 34961315 34961315 + missense_variant Missense_Mutation SNP G G T TCGA-CS-6186-01 TCGA-CS-6186-10 Untested Somatic Phase_I WXS none Illumina GAIIx 19 33 ENST00000329357.5:c.367G>T p.Ala123Ser p.A123S ENST00000329357 NM_152631.2 123 Gcc/Tcc 0 0.537 GGAAGTGGAAGCCCAGCTGAT MAGEB16 139604 hgsc.bcm.edu;broad.mit.edu GRCh37 X 35820491 35820491 + missense_variant Missense_Mutation SNP A A T TCGA-CS-6186-01 TCGA-CS-6186-10 Untested Somatic Phase_I WXS none Illumina GAIIx 1 9 ENST00000399989.1:c.178A>T p.Ser60Cys p.S60C ENST00000399989 NM_001099921.1 60 Agt/Tgt 0 0.532 TAAGGCAGAGAGTCCTCTTGA DDX26B 203522 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 134706886 134706886 + synonymous_variant Silent SNP G G T TCGA-CS-6186-01 TCGA-CS-6186-10 Untested Somatic Phase_I WXS none Illumina GAIIx 9 30 ENST00000370752.4:c.1434G>T p.Gly478= p.G478= ENST00000370752 NM_182540.4 478 ggG/ggT 0 0.353 AAATCACAGGGGAAACTGCAC SPANXN2 494119 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 142795437 142795437 + missense_variant Missense_Mutation SNP C C T TCGA-CS-6186-01 TCGA-CS-6186-10 Untested Somatic Phase_I WXS none Illumina GAIIx 17 141 ENST00000370498.1:c.241G>A p.Val81Ile p.V81I ENST00000370498 NM_001009615.1 81 Gtc/Atc 0 0.453 TCCTCTTGGACGGGATTGATG SLC23A2 9962 broad.mit.edu;ucsc.edu GRCh37 20 4850643 4850643 + missense_variant Missense_Mutation SNP C C T TCGA-CS-6186-01 TCGA-CS-6186-10 Untested Somatic Phase_I WXS none Illumina GAIIx 51 27 ENST00000379333.1:c.1159G>A p.Val387Met p.V387M ENST00000379333 NM_203327.1 387 Gtg/Atg 0 0.602 CTGGCGACCACGGCACTGAGC OR1N1 138883 broad.mit.edu;ucsc.edu GRCh37 9 125289214 125289214 + missense_variant Missense_Mutation SNP C C T TCGA-CS-6186-01 TCGA-CS-6186-10 Untested Somatic Phase_I WXS none Illumina GAIIx 29 4 ENST00000304880.2:c.359G>A p.Arg120His p.R120H ENST00000304880 NM_012363.1 120 cGc/cAc 0 0.512 GGCCACATAGCGGTCATACGC HOXB5 3215 broad.mit.edu;ucsc.edu GRCh37 17 46670842 46670842 + missense_variant Missense_Mutation SNP G G A TCGA-CS-6186-01 TCGA-CS-6186-10 Untested Somatic Phase_I WXS none Illumina GAIIx 15 5 ENST00000239151.5:c.203C>T p.Ala68Val p.A68V ENST00000239151 NM_002147.3 68 gCg/gTg 0 0.687 CTCGCCCACCGCCCCAAAGTG COL1A1 1277 broad.mit.edu;ucsc.edu GRCh37 17 48270361 48270361 + synonymous_variant Silent SNP G G A rs72651616 TCGA-CS-6186-01 TCGA-CS-6186-10 Untested Somatic Phase_I WXS none Illumina GAIIx 16 5 ENST00000225964.5:c.1815C>T p.Gly605= p.G605= ENST00000225964 NM_000088.3 605 ggC/ggT 0 0.627 TTACGACAGCGCCAGGGGGTC TTC21A 199223 broad.mit.edu;ucsc.edu GRCh37 3 39179140 39179140 + missense_variant Missense_Mutation SNP G G C TCGA-CS-6186-01 TCGA-CS-6186-10 Untested Somatic Phase_I WXS none Illumina GAIIx 13 3 ENST00000431162.2:c.3635G>C p.Cys1212Ser p.C1212S ENST00000431162 1212 tGc/tCc 0 0.607 GACATTTACTGCCAGGGCAGC FCHSD1 89848 broad.mit.edu;ucsc.edu GRCh37 5 141028985 141028985 + missense_variant Missense_Mutation SNP C C T TCGA-CS-6186-01 TCGA-CS-6186-10 Untested Somatic Phase_I WXS none Illumina GAIIx 151 73 ENST00000435817.2:c.352G>A p.Ala118Thr p.A118T ENST00000435817 NM_033449.2 118 Gcc/Acc 0 0.612 TGCTCCTTGGCGCTCCGCCCT KCNS3 3790 broad.mit.edu;ucsc.edu GRCh37 2 18113040 18113040 + synonymous_variant Silent SNP G G A TCGA-CS-6186-01 TCGA-CS-6186-10 Untested Somatic Phase_I WXS none Illumina GAIIx 51 37 ENST00000403915.1:c.765G>A p.Leu255= p.L255= ENST00000403915 NM_001282428.1 255 ctG/ctA 0 0.512 AAAACCCTCTGAACATCATTG ITPR1 3708 broad.mit.edu;ucsc.edu GRCh37 3 4819013 4819013 + synonymous_variant Silent SNP C C A TCGA-CS-6186-01 TCGA-CS-6186-10 Untested Somatic Phase_I WXS none Illumina GAIIx 8 6 ENST00000302640.8:c.6201C>A p.Ile2067= p.I2067= ENST00000302640 NM_001168272.1 2067 atC/atA 0 0.423 TCAATGATATCAATCCTTTGG USH2A 7399 broad.mit.edu;ucsc.edu GRCh37 1 216251647 216251647 + stop_gained Nonsense_Mutation SNP G G A TCGA-CS-6186-01 TCGA-CS-6186-10 Untested Somatic Phase_I WXS none Illumina GAIIx 188 131 ENST00000307340.3:c.5356C>T p.Gln1786Ter p.Q1786* ENST00000307340 NM_206933.2 1786 Caa/Taa 0 0.348 AGATCCACTTGTGTAAAGGCA CACNA1S 779 broad.mit.edu;ucsc.edu GRCh37 1 201047161 201047161 + missense_variant Missense_Mutation SNP G G A rs9333651 TCGA-CS-6186-01 TCGA-CS-6186-10 Untested Somatic Phase_I WXS none Illumina GAIIx 38 26 ENST00000362061.3:c.1465C>T p.Arg489Cys p.R489C ENST00000362061 NM_000069.2 489 Cgc/Tgc 0 0.582 AAGTACTGGCGCAGGCCCAGC NLRP9 338321 broad.mit.edu;ucsc.edu GRCh37 19 56244617 56244617 + missense_variant Missense_Mutation SNP C C T TCGA-CS-6186-01 TCGA-CS-6186-10 Untested Somatic Phase_I WXS none Illumina GAIIx 29 4 ENST00000332836.2:c.580G>A p.Ala194Thr p.A194T ENST00000332836 NM_176820.2 194 Gca/Aca 0 0.453 CTGGTCTCTGCGATACCGTTC SEC23B 10483 broad.mit.edu;ucsc.edu GRCh37 20 18516372 18516372 + stop_gained Nonsense_Mutation SNP G G T TCGA-CS-6186-01 TCGA-CS-6186-10 Untested Somatic Phase_I WXS none Illumina GAIIx 27 4 ENST00000336714.3:c.1390G>T p.Glu464Ter p.E464* ENST00000336714 NM_032985.4 464 Gaa/Taa 0 0.433 CATCTATTTTGAAGTTGTCAA PTEN 5728 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 10 89692835 89692835 + missense_variant Missense_Mutation SNP G G T rs57374291 TCGA-DU-6402-01 TCGA-DU-6402-10 Untested Somatic Phase_I WXS none Illumina GAIIx 48 25 ENST00000371953.3:c.319G>T p.Asp107Tyr p.D107Y ENST00000371953 NM_000314.4 107 Gat/Tat 0 0.368 CTTTTGTGAAGATCTTGACCA MS4A6E 245802 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 11 60107365 60107365 + synonymous_variant Silent SNP T T A TCGA-DU-6402-01 TCGA-DU-6402-10 Untested Somatic Phase_I WXS none Illumina GAIIx 200 76 ENST00000300182.4:c.381T>A p.Ser127= p.S127= ENST00000300182 NM_139249.2 127 tcT/tcA 0 0.493 TGCTGGTTTCTACTGTGTTGG EXPH5 23086 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 11 108381685 108381685 + missense_variant Missense_Mutation SNP G G T TCGA-DU-6402-01 TCGA-DU-6402-10 Untested Somatic Phase_I WXS none Illumina GAIIx 30 8 ENST00000265843.4:c.4549C>A p.Leu1517Ile p.L1517I ENST00000265843 NM_015065.2 1517 Cta/Ata 0 0.433 CCAAGCTGTAGTTTATGCAAT EXPH5 23086 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 11 108382533 108382533 + missense_variant Missense_Mutation SNP G G C TCGA-DU-6402-01 TCGA-DU-6402-10 Untested Somatic Phase_I WXS none Illumina GAIIx 99 24 ENST00000265843.4:c.3701C>G p.Thr1234Arg p.T1234R ENST00000265843 NM_015065.2 1234 aCg/aGg 0 0.373 AACAGAAAACGTACTAGTCGT FZD10 11211 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 12 130648631 130648631 + missense_variant Missense_Mutation SNP G G A TCGA-DU-6402-01 TCGA-DU-6402-10 Untested Somatic Phase_I WXS none Illumina GAIIx 43 18 ENST00000229030.4:c.1144G>A p.Gly382Arg p.G382R ENST00000229030 382 Ggg/Agg 0 0.647 CGAGCTCACCGGGGTCTGCTA TICRR 90381 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 15 90167424 90167424 + missense_variant Missense_Mutation SNP C C A TCGA-DU-6402-01 TCGA-DU-6402-10 Untested Somatic Phase_I WXS none Illumina GAIIx 94 43 ENST00000268138.7:c.3883C>A p.Pro1295Thr p.P1295T ENST00000268138 1295 Cca/Aca 0 0.453 TCCAAAAAGACCAGGGAATTC MYO15A 51168 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 18053797 18053797 + missense_variant Missense_Mutation SNP G G A TCGA-DU-6402-01 TCGA-DU-6402-10 Untested Somatic Phase_I WXS none Illumina GAIIx 44 10 ENST00000205890.5:c.7267G>A p.Gly2423Ser p.G2423S ENST00000205890 NM_016239.3 2423 Ggt/Agt 0 0.617 AGGCCAGCCCGGTGGAGGCAG NF1 4763 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 29663747 29663747 + stop_gained Nonsense_Mutation SNP T T G TCGA-DU-6402-01 TCGA-DU-6402-10 Untested Somatic Phase_I WXS none Illumina GAIIx 61 23 ENST00000358273.4:c.6242T>G p.Leu2081Ter p.L2081* ENST00000358273 NM_001042492.2 2081 tTa/tGa 0 0.408 ATTGCTATTTTAGCACGCTAC ANKRD30B 374860 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 18 14763803 14763803 + synonymous_variant Silent SNP G G A TCGA-DU-6402-01 TCGA-DU-6402-10 Untested Somatic Phase_I WXS none Illumina GAIIx 14 8 ENST00000358984.4:c.939G>A p.Thr313= p.T313= ENST00000358984 NM_001145029.1 313 acG/acA 0 0.478 TGGAGGGAACGTCTGCCAAAA NEDD4L 23327 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 18 56008358 56008358 + missense_variant Missense_Mutation SNP A A G TCGA-DU-6402-01 TCGA-DU-6402-10 Untested Somatic Phase_I WXS none Illumina GAIIx 7 4 ENST00000400345.3:c.1214A>G p.Asn405Ser p.N405S ENST00000400345 NM_001144967.2 405 aAt/aGt 0 0.478 TACTATGTCAATCATAACAAT CD70 970 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 19 6590911 6590911 + missense_variant Missense_Mutation SNP C C T rs148772362 TCGA-DU-6402-01 TCGA-DU-6402-10 Untested Somatic Phase_I WXS none Illumina GAIIx 62 32 ENST00000245903.3:c.103G>A p.Val35Met p.V35M ENST00000245903 NM_001252.3 35 Gtg/Atg 0 0.627 ATGCACACCACGAGGCAGATC UBE2M 9040 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 19 59068093 59068093 + missense_variant Missense_Mutation SNP T T C TCGA-DU-6402-01 TCGA-DU-6402-10 Untested Somatic Phase_I WXS none Illumina GAIIx 35 18 ENST00000253023.3:c.308A>G p.Asn103Ser p.N103S ENST00000253023 NM_003969.3 103 aAc/aGc 0 0.582 GAGGTCAATGTTGGGGTGATA PRAMEF4 400735 hgsc.bcm.edu;broad.mit.edu GRCh37 1 12941802 12941802 + missense_variant Missense_Mutation SNP C C T TCGA-DU-6402-01 TCGA-DU-6402-10 Untested Somatic Phase_I WXS none Illumina GAIIx 239 83 ENST00000235349.5:c.748G>A p.Val250Ile p.V250I ENST00000235349 NM_001009611.2 250 Gtt/Att 0 0.488 TCTGGGGAAACGTAGCGAGAG TCHH 7062 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 152082385 152082385 + missense_variant Missense_Mutation SNP C C T TCGA-DU-6402-01 TCGA-DU-6402-10 Untested Somatic Phase_I WXS none Illumina GAIIx 48 22 ENST00000368804.1:c.3308G>A p.Arg1103His p.R1103H ENST00000368804 NM_007113.3 1103 cGc/cAc 0 0.612 CCGCTCCTGGCGCCTTCTCTT CD1E 913 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 158324220 158324220 + missense_variant Missense_Mutation SNP C C T TCGA-DU-6402-01 TCGA-DU-6402-10 Untested Somatic Phase_I WXS none Illumina GAIIx 90 29 ENST00000368167.3:c.112C>T p.Arg38Cys p.R38C ENST00000368167 NM_030893.3 38 Cgc/Tgc 0 0.542 GCTGTCCTTCCGCATGCTCCA RYR2 6262 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 237777663 237777663 + missense_variant Missense_Mutation SNP A A T TCGA-DU-6402-01 TCGA-DU-6402-10 Untested Somatic Phase_I WXS none Illumina GAIIx 22 12 ENST00000366574.2:c.5235A>T p.Lys1745Asn p.K1745N ENST00000366574 NM_001035.2 1745 aaA/aaT 0 0.517 AGAACAAAAAACACGGCCTTC PHACTR3 116154 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 20 58349322 58349322 + synonymous_variant Silent SNP G G A TCGA-DU-6402-01 TCGA-DU-6402-10 Untested Somatic Phase_I WXS none Illumina GAIIx 34 14 ENST00000371015.1:c.951G>A p.Gly317= p.G317= ENST00000371015 NM_080672.4 317 ggG/ggA 0 0.527 AAAGTAAAGGGTCTCCAAAGA LRRC3 81543 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 21 45877263 45877263 + missense_variant Missense_Mutation SNP G G A TCGA-DU-6402-01 TCGA-DU-6402-10 Untested Somatic Phase_I WXS none Illumina GAIIx 33 13 ENST00000291592.4:c.736G>A p.Ala246Thr p.A246T ENST00000291592 NM_030891.3 246 Gcc/Acc 0 0.652 TCTGCCCAGCGCCCCCGCCTC SFI1 9814 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 22 32013006 32013006 + missense_variant Missense_Mutation SNP G G C rs143349198 by1000genomes TCGA-DU-6402-01 TCGA-DU-6402-10 Untested Somatic Phase_I WXS none Illumina GAIIx 31 19 ENST00000400288.2:c.3454G>C p.Glu1152Gln p.E1152Q ENST00000400288 NM_001007467.2 1152 Gaa/Caa 0 0.567 CCTTGAGGCTGAACTTGAGGA DEPDC5 9681 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 22 32302244 32302244 + missense_variant Missense_Mutation SNP C C T TCGA-DU-6402-01 TCGA-DU-6402-10 Untested Somatic Phase_I WXS none Illumina GAIIx 33 14 ENST00000382112.3:c.4546C>T p.Arg1516Trp p.R1516W ENST00000382112 NM_001136029.2 1516 Cgg/Tgg 0 0.607 AGGGCAGCAGCGGCGGCGGCG PDIA6 10130 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 10929977 10929977 + synonymous_variant Silent SNP G G A TCGA-DU-6402-01 TCGA-DU-6402-10 Untested Somatic Phase_I WXS none Illumina GAIIx 65 24 ENST00000272227.3:c.738C>T p.Gly246= p.G246= ENST00000272227 NM_005742.2 246 ggC/ggT 0 0.423 CAGGAGACTCGCCTTTCTGAA KCNS3 3790 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 18113581 18113581 + missense_variant Missense_Mutation SNP C C A TCGA-DU-6402-01 TCGA-DU-6402-10 Untested Somatic Phase_I WXS none Illumina GAIIx 69 34 ENST00000403915.1:c.1306C>A p.Pro436Thr p.P436T ENST00000403915 NM_001282428.1 436 Cct/Act 0 0.453 TCATGAGCTACCTTACTTTAA CLHC1 130162 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 55404777 55404777 + missense_variant Missense_Mutation SNP C C G TCGA-DU-6402-01 TCGA-DU-6402-10 Untested Somatic Phase_I WXS none Illumina GAIIx 48 17 ENST00000401408.1:c.1525G>C p.Gly509Arg p.G509R ENST00000401408 NM_152385.2 509 Ggc/Cgc 0 0.353 AGCTTAATGCCAACTTTTTTC B3GNT7 93010 hgsc.bcm.edu;broad.mit.edu GRCh37 2 232263412 232263412 + missense_variant Missense_Mutation SNP G G A TCGA-DU-6402-01 TCGA-DU-6402-10 Untested Somatic Phase_I WXS none Illumina GAIIx 39 18 ENST00000287590.5:c.982G>A p.Val328Ile p.V328I ENST00000287590 NM_145236.2 328 Gtc/Atc 0 0.672 GATCGACGACGTCTTTCTGGG GIGYF2 26058 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 233681681 233681681 + missense_variant Missense_Mutation SNP G G A rs149585458 TCGA-DU-6402-01 TCGA-DU-6402-10 Untested Somatic Phase_I WXS none Illumina GAIIx 108 67 ENST00000409451.3:c.2372G>A p.Arg791Gln p.R791Q ENST00000409451 791 cGg/cAg 0 0.488 GAAATTCTTCGGCGACAGCAG PROM1 8842 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 4 15991422 15991422 + missense_variant Missense_Mutation SNP A A G TCGA-DU-6402-01 TCGA-DU-6402-10 Untested Somatic Phase_I WXS none Illumina GAIIx 7 6 ENST00000510224.1:c.2009T>C p.Leu670Pro p.L670P ENST00000510224 670 cTg/cCg 0 0.413 ATCTCTTTTCAGGGAGTTCCT CCKAR 886 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 4 26483467 26483467 + synonymous_variant Silent SNP G G A rs150897748 TCGA-DU-6402-01 TCGA-DU-6402-10 Untested Somatic Phase_I WXS none Illumina GAIIx 93 20 ENST00000295589.3:c.1080C>T p.Tyr360= p.Y360= ENST00000295589 NM_000730.2 360 taC/taT 0 0.627 AGGAGGAGGTGTAGGACAGGA MUC7 4589 hgsc.bcm.edu;ucsc.edu GRCh37 4 71347577 71347577 + synonymous_variant Silent SNP C C T rs41424846 byFrequency TCGA-DU-6402-01 TCGA-DU-6402-10 Untested Somatic Phase_I WXS none Illumina GAIIx 52 19 ENST00000413702.1:c.1116C>T p.Asp372= p.D372= ENST00000413702 NM_001145006.1 372 gaC/gaT 0 0.338 GAATTATTGACGACATGGTGG PPEF2 5470 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 4 76812812 76812812 + missense_variant Missense_Mutation SNP C C T TCGA-DU-6402-01 TCGA-DU-6402-10 Untested Somatic Phase_I WXS none Illumina GAIIx 224 99 ENST00000286719.7:c.230G>A p.Ser77Asn p.S77N ENST00000286719 NM_006239.2 77 aGc/aAc 0 0.522 GTCGTTGTGGCTGCTGGGGAT FAT4 79633 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 4 126239159 126239159 + synonymous_variant Silent SNP C C T TCGA-DU-6402-01 TCGA-DU-6402-10 Untested Somatic Phase_I WXS none Illumina GAIIx 34 16 ENST00000394329.3:c.1593C>T p.Leu531= p.L531= ENST00000394329 NM_024582.4 531 ctC/ctT 0 0.547 ATAGCGGCCTCGTGACCACTG MARCH11 441061 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 5 16067657 16067657 + missense_variant Missense_Mutation SNP T T C TCGA-DU-6402-01 TCGA-DU-6402-10 Untested Somatic Phase_I WXS none Illumina GAIIx 124 45 ENST00000332432.8:c.1132A>G p.Asn378Asp p.N378D ENST00000332432 NM_001102562.1 378 Aat/Gat 0 0.478 CTCATCCGATTGAACAGGTGC PCDHA2 56146 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 5 140176070 140176070 + synonymous_variant Silent SNP C C T TCGA-DU-6402-01 TCGA-DU-6402-10 Untested Somatic Phase_I WXS none Illumina GAIIx 43 13 ENST00000526136.1:c.1521C>T p.Tyr507= p.Y507= ENST00000526136 NM_018905.2 507 taC/taT 0 0.682 TGTCGAGCTACGTTTCGGTGC PCDHB2 56133 hgsc.bcm.edu;broad.mit.edu GRCh37 5 140475880 140475880 + synonymous_variant Silent SNP C C T TCGA-DU-6402-01 TCGA-DU-6402-10 Untested Somatic Phase_I WXS none Illumina GAIIx 116 15 ENST00000194155.4:c.1506C>T p.Leu502= p.L502= ENST00000194155 NM_018936.2 502 ctC/ctT 0 0.692 ACCTGCCCCTCGCCTCCCTGG PKHD1 5314 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 6 51882309 51882309 + synonymous_variant Silent SNP C C T TCGA-DU-6402-01 TCGA-DU-6402-10 Untested Somatic Phase_I WXS none Illumina GAIIx 110 26 ENST00000371117.3:c.5499G>A p.Ser1833= p.S1833= ENST00000371117 NM_138694.3 1833 tcG/tcA 0 0.512 GGTAAGGCCACGATTCAAGCA DDC 1644 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 7 50611629 50611629 + missense_variant Missense_Mutation SNP G G A TCGA-DU-6402-01 TCGA-DU-6402-10 Untested Somatic Phase_I WXS none Illumina GAIIx 166 38 ENST00000444124.2:c.155C>T p.Thr52Met p.T52M ENST00000444124 NM_001082971.1 52 aCg/aTg 0 0.557 GTCCTCAAACGTGTCTGGCTC GRM3 2913 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 7 86415593 86415593 + missense_variant Missense_Mutation SNP G G A TCGA-DU-6402-01 TCGA-DU-6402-10 Untested Somatic Phase_I WXS none Illumina GAIIx 257 69 ENST00000361669.2:c.485G>A p.Arg162Gln p.R162Q ENST00000361669 NM_000840.2 162 cGg/cAg 0 0.522 AACCTGCTGCGGCTCTTCCAG SLC26A3 1811 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 7 107423751 107423751 + missense_variant Missense_Mutation SNP C C T TCGA-DU-6402-01 TCGA-DU-6402-10 Untested Somatic Phase_I WXS none Illumina GAIIx 79 21 ENST00000340010.5:c.1018G>A p.Val340Ile p.V340I ENST00000340010 NM_000111.2 340 Gta/Ata 0 0.418 CAATCTCCTACGGTGTTTTGG BRAF 673 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 7 140453154 140453154 + missense_variant Missense_Mutation SNP T T C TCGA-DU-6402-01 TCGA-DU-6402-10 Untested Somatic Phase_I WXS none Illumina GAIIx 90 22 ENST00000288602.6:c.1781A>G p.Asp594Gly p.D594G ENST00000288602 NM_004333.4 594 gAt/gGt 0 0.373 TAGACCAAAATCACCTATTTT DAPK1 1612 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 9 90301560 90301560 + missense_variant Missense_Mutation SNP G G A TCGA-DU-6402-01 TCGA-DU-6402-10 Untested Somatic Phase_I WXS none Illumina GAIIx 11 10 ENST00000408954.3:c.2319G>A p.Met773Ile p.M773I ENST00000408954 NM_004938.2 773 atG/atA 0 0.577 CCAAAGGGATGCTGGAGGTGT MUM1L1 139221 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 105449891 105449891 + missense_variant Missense_Mutation SNP G G A TCGA-DU-6402-01 TCGA-DU-6402-10 Untested Somatic Phase_I WXS none Illumina GAIIx 6 14 ENST00000337685.2:c.466G>A p.Ala156Thr p.A156T ENST00000337685 NM_152423.4 156 Gca/Aca 0 0.413 ATGCTTGTTAGCATCTTCAGA HTR3C 170572 broad.mit.edu;ucsc.edu GRCh37 3 183774718 183774718 + stop_gained Nonsense_Mutation SNP C C T TCGA-DU-6402-01 TCGA-DU-6402-10 Untested Somatic Phase_I WXS none Illumina GAIIx 104 39 ENST00000318351.1:c.445C>T p.Arg149Ter p.R149* ENST00000318351 NM_130770.2 149 Cga/Tga 0 0.478 CAGTGAAGGTCGAATTAAGTA CLEC12A 160364 broad.mit.edu;ucsc.edu GRCh37 12 10124176 10124176 + missense_variant,splice_region_variant Missense_Mutation SNP A A G TCGA-DU-6402-01 TCGA-DU-6402-10 Untested Somatic Phase_I WXS none Illumina GAIIx 32 19 ENST00000355690.4:c.11A>G p.Asp4Gly p.D4G ENST00000355690 NM_001207010.1 4 gAt/gGt 0 0.318 CTTTGTCAAGATTTCTTTACA UGT2B17 7367 broad.mit.edu;ucsc.edu GRCh37 4 69434170 69434170 + synonymous_variant Silent SNP C C T TCGA-DU-6402-01 TCGA-DU-6402-10 Untested Somatic Phase_I WXS none Illumina GAIIx 307 47 ENST00000317746.2:c.33G>A p.Leu11= p.L11= ENST00000317746 NM_001077.3 11 ctG/ctA 0 0.423 TGAGCTGCATCAGCAGAAAGA COBLL1 22837 broad.mit.edu;ucsc.edu GRCh37 2 165578649 165578649 + missense_variant Missense_Mutation SNP G G T TCGA-DU-6402-01 TCGA-DU-6402-10 Untested Somatic Phase_I WXS none Illumina GAIIx 58 21 ENST00000342193.4:c.932C>A p.Ala311Glu p.A311E ENST00000342193 NM_014900.4 311 gCa/gAa 0 0.488 CTGGATGTGTGCAAGGTCTTG RPSAP52 204010 broad.mit.edu;ucsc.edu GRCh37 12 66152273 66152273 + non_coding_transcript_exon_variant RNA SNP T T G TCGA-DU-6402-01 TCGA-DU-6402-10 Untested Somatic Phase_I WXS none Illumina GAIIx 11 5 ENST00000489520.2:n.671A>C *224* ENST00000489520 0 0.498 TCTGACCCACTGAGGGAGCTC RPL10L 140801 broad.mit.edu;ucsc.edu GRCh37 14 47120403 47120403 + synonymous_variant Silent SNP G G A TCGA-DU-6402-01 TCGA-DU-6402-10 Untested Somatic Phase_I WXS none Illumina GAIIx 78 27 ENST00000298283.3:c.537C>T p.Asp179= p.D179= ENST00000298283 NM_080746.2 179 gaC/gaT 0 0.517 CTTCAAATTCGTCAGCATTAA ACSM2A 123876 broad.mit.edu;ucsc.edu GRCh37 16 20476848 20476848 + stop_gained Nonsense_Mutation SNP C C T rs146541514 TCGA-DU-6402-01 TCGA-DU-6402-10 Untested Somatic Phase_I WXS none Illumina GAIIx 23 6 ENST00000573854.1:c.187C>T p.Arg63Ter p.R63* ENST00000573854 NM_001010845.2 63 Cga/Tga 0 0.517 GGCTGGCAAGCGACTCCCAAG SDK2 54549 broad.mit.edu;ucsc.edu GRCh37 17 71410870 71410870 + synonymous_variant Silent SNP G G A TCGA-DU-6402-01 TCGA-DU-6402-10 Untested Somatic Phase_I WXS none Illumina GAIIx 26 16 ENST00000392650.3:c.2397C>T p.His799= p.H799= ENST00000392650 NM_001144952.1 799 caC/caT 0 0.597 TGGCTTCCGCGTGCACATTGC NF1 4763 broad.mit.edu;hgsc.bcm.edu GRCh37 17 29548901 29548901 + frameshift_variant Frame_Shift_Del DEL G G - TCGA-DU-6402-01 TCGA-DU-6402-10 Untested Somatic Phase_I WXS none Illumina GAIIx 44 23 ENST00000358273.4:c.1675delG p.Asp559IlefsTer9 p.D559Ifs*9 ENST00000358273 NM_001042492.2 559 Gat/at 0 0.289 AGATAGCATTGATTTGTGGAA NUP98 4928 hgsc.bcm.edu;broad.mit.edu GRCh37 11 3697451 3697451 + missense_variant Missense_Mutation SNP T T C TCGA-P5-A5EX-01 TCGA-P5-A5EX-10 Untested Somatic Phase_I WXS none Illumina GAIIx 129 11 ENST00000324932.7:c.5341A>G p.Met1781Val p.M1781V ENST00000324932 NM_139132.3 1781 Atg/Gtg 0 0.582 AGTTCGTCCATGGCATAGTCC FBXL3 26224 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 13 77581815 77581815 + missense_variant Missense_Mutation SNP C C T TCGA-P5-A5EX-01 TCGA-P5-A5EX-10 Untested Somatic Phase_I WXS none Illumina GAIIx 49 23 ENST00000355619.5:c.752G>A p.Arg251Gln p.R251Q ENST00000355619 NM_012158.2 251 cGa/cAa 0 0.418 ATGTTCTAATCGAACATGTTT KIAA1024 23251 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 15 79749239 79749239 + synonymous_variant Silent SNP C C T TCGA-P5-A5EX-01 TCGA-P5-A5EX-10 Untested Somatic Phase_I WXS none Illumina GAIIx 84 27 ENST00000305428.3:c.750C>T p.Val250= p.V250= ENST00000305428 NM_015206.2 250 gtC/gtT 0 0.473 CATTTGTGGTCCAGTCCTGTG BZRAP1 9256 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 56388978 56388978 + missense_variant Missense_Mutation SNP T T C TCGA-P5-A5EX-01 TCGA-P5-A5EX-10 Untested Somatic Phase_I WXS none Illumina GAIIx 97 41 ENST00000343736.4:c.3035A>G p.Asn1012Ser p.N1012S ENST00000343736 1012 aAc/aGc 0 0.602 CCGGACACCGTTGGATGTGCC PRX 57716 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 19 40901791 40901791 + missense_variant Missense_Mutation SNP G G A TCGA-P5-A5EX-01 TCGA-P5-A5EX-10 Untested Somatic Phase_I WXS none Illumina GAIIx 115 11 ENST00000324001.7:c.2468C>T p.Ala823Val p.A823V ENST00000324001 NM_181882.2 823 gCg/gTg 0 0.587 CTCAGCACCCGCCTCGCCTGG SOGA1 140710 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 20 35445831 35445831 + synonymous_variant Silent SNP G G T TCGA-P5-A5EX-01 TCGA-P5-A5EX-10 Untested Somatic Phase_I WXS none Illumina GAIIx 6 8 ENST00000237536.4:c.1113C>A p.Ala371= p.A371= ENST00000237536 NM_080627.2 371 gcC/gcA 0 0.458 TCTTCTTATCGGCCTTCCCCA ZC3H6 376940 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 113089666 113089666 + synonymous_variant Silent SNP A A G TCGA-P5-A5EX-01 TCGA-P5-A5EX-10 Untested Somatic Phase_I WXS none Illumina GAIIx 25 16 ENST00000409871.1:c.3171A>G p.Ser1057= p.S1057= ENST00000409871 NM_198581.2 1057 tcA/tcG 0 0.443 ACGGTTCATCATCCACATCAG TTN 7273 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 179410161 179410161 + synonymous_variant Silent SNP A A G TCGA-P5-A5EX-01 TCGA-P5-A5EX-10 Untested Somatic Phase_I WXS none Illumina GAIIx 92 51 ENST00000589042.1:c.95676T>C p.Ser31892= p.S31892= ENST00000589042 NM_001267550.1 31892 agT/agC 0 0.468 CGCTGGGCTCACTGTTACCAG IDH1 3417 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T rs121913500 TCGA-P5-A5EX-01 TCGA-P5-A5EX-10 Untested Somatic Phase_I WXS none Illumina GAIIx 59 17 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 0.393 ATAAGCATGACGACCTATGAT BOD1L1 259282 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 4 13603085 13603085 + synonymous_variant Silent SNP G G A TCGA-P5-A5EX-01 TCGA-P5-A5EX-10 Untested Somatic Phase_I WXS none Illumina GAIIx 189 24 ENST00000040738.5:c.5439C>T p.Ser1813= p.S1813= ENST00000040738 NM_148894.2 1813 agC/agT 0 0.488 CAAAGCCTTCGCTGCTATCTT NMBR 4829 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 6 142397180 142397180 + missense_variant Missense_Mutation SNP T T A TCGA-P5-A5EX-01 TCGA-P5-A5EX-10 Untested Somatic Phase_I WXS none Illumina GAIIx 59 25 ENST00000258042.1:c.778A>T p.Thr260Ser p.T260S ENST00000258042 NM_002511.2 260 Aca/Tca 0 0.388 CGTTTCCGTGTTTCCATCTGC WIPI2 26100 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 7 5256804 5256804 + missense_variant Missense_Mutation SNP G G A TCGA-P5-A5EX-01 TCGA-P5-A5EX-10 Untested Somatic Phase_I WXS none Illumina GAIIx 45 20 ENST00000288828.4:c.562G>A p.Asp188Asn p.D188N ENST00000288828 NM_001278299.1 188 Gat/Aat 0 0.527 GCAGGTCTTCGATACCATTAA COA1 55744 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 7 43687182 43687182 + missense_variant Missense_Mutation SNP C C T TCGA-P5-A5EX-01 TCGA-P5-A5EX-10 Untested Somatic Phase_I WXS none Illumina GAIIx 79 37 ENST00000395879.1:c.67G>A p.Gly23Ser p.G23S ENST00000395879 23 Ggt/Agt 0 0.493 TAGAACACACCGTGGAAAAGG CROT 54677 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 7 87005181 87005181 + missense_variant Missense_Mutation SNP T T C TCGA-P5-A5EX-01 TCGA-P5-A5EX-10 Untested Somatic Phase_I WXS none Illumina GAIIx 40 11 ENST00000419147.2:c.872T>C p.Leu291Ser p.L291S ENST00000419147 NM_001143935.1 291 tTg/tCg 0 0.368 CCAGAGAACTTGGCTTTGTTA FOXP2 93986 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 7 114294061 114294061 + missense_variant Missense_Mutation SNP A A T TCGA-P5-A5EX-01 TCGA-P5-A5EX-10 Untested Somatic Phase_I WXS none Illumina GAIIx 85 31 ENST00000408937.3:c.1338A>T p.Lys446Asn p.K446N ENST00000408937 NM_014491.3 446 aaA/aaT 0 0.393 CATCTCCCAAACCtgtaagtg KEL 3792 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 7 142638440 142638440 + stop_gained Nonsense_Mutation SNP G G A TCGA-P5-A5EX-01 TCGA-P5-A5EX-10 Untested Somatic Phase_I WXS none Illumina GAIIx 145 60 ENST00000355265.2:c.2098C>T p.Arg700Ter p.R700* ENST00000355265 NM_000420.2 700 Cga/Tga 0 0.622 CCGTGGACTCGGAGGTGTGGA BARX1 56033 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 9 96714489 96714489 + missense_variant Missense_Mutation SNP G G A TCGA-P5-A5EX-01 TCGA-P5-A5EX-10 Untested Somatic Phase_I WXS none Illumina GAIIx 34 19 ENST00000253968.6:c.722C>T p.Ala241Val p.A241V ENST00000253968 NM_021570.3 241 gCg/gTg 0 0.682 CGGCACCTCCGCCGGTTTCTC MAGEB1 4112 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 30269583 30269583 + missense_variant Missense_Mutation SNP C C T TCGA-P5-A5EX-01 TCGA-P5-A5EX-10 Untested Somatic Phase_I WXS none Illumina GAIIx 93 43 ENST00000378981.3:c.973C>T p.Arg325Cys p.R325C ENST00000378981 NM_002363.4 325 Cgt/Tgt 0 0.527 TAGAGCCAGGCGTCGCACTAC KIF4A 24137 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 69615591 69615591 + missense_variant Missense_Mutation SNP T T G TCGA-P5-A5EX-01 TCGA-P5-A5EX-10 Untested Somatic Phase_I WXS none Illumina GAIIx 57 41 ENST00000374403.3:c.2303T>G p.Leu768Arg p.L768R ENST00000374403 NM_012310.4 768 cTt/cGt 0 0.438 AATGACCTCCTTGAAGATAGA BRWD3 254065 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 79942476 79942476 + synonymous_variant Silent SNP A A G TCGA-P5-A5EX-01 TCGA-P5-A5EX-10 Untested Somatic Phase_I WXS none Illumina GAIIx 43 14 ENST00000373275.4:c.3891T>C p.Ser1297= p.S1297= ENST00000373275 NM_153252.4 1297 tcT/tcC 0 0.383 TACACTTTAAAGACTGTCTTC TENM1 10178 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 123519691 123519691 + missense_variant Missense_Mutation SNP G G C TCGA-P5-A5EX-01 TCGA-P5-A5EX-10 Untested Somatic Phase_I WXS none Illumina GAIIx 119 63 ENST00000422452.2:c.5912C>G p.Thr1971Arg p.T1971R ENST00000422452 NM_001163279.1 1971 aCa/aGa 0 0.483 TCTGCGCCCTGTCCCCAGATG ZNF551 90233 broad.mit.edu;ucsc.edu GRCh37 19 58197953 58197953 + missense_variant Missense_Mutation SNP A A G TCGA-P5-A5EX-01 TCGA-P5-A5EX-10 Untested Somatic Phase_I WXS none Illumina GAIIx 53 64 ENST00000282296.5:c.310A>G p.Ser104Gly p.S104G ENST00000282296 104 Agt/Ggt 0 0.478 AACTCACCTCAGTGAGATTAA CLDN11 5010 broad.mit.edu;ucsc.edu GRCh37 3 170141061 170141061 + missense_variant Missense_Mutation SNP G G A TCGA-P5-A5EX-01 TCGA-P5-A5EX-10 Untested Somatic Phase_I WXS none Illumina GAIIx 116 54 ENST00000064724.3:c.337G>A p.Gly113Ser p.G113S ENST00000064724 NM_005602.5 113 Ggt/Agt 0 0.602 CCAGGAGCCCGGTGTGGCTAA KIAA1429 25962 broad.mit.edu;hgsc.bcm.edu GRCh37 8 95541443 95541445 + inframe_deletion In_Frame_Del DEL TTG TTG - TCGA-P5-A5EX-01 TCGA-P5-A5EX-10 Untested Somatic Phase_I WXS none Illumina GAIIx 28 10 ENST00000297591.5:c.733_735delCAA p.Gln245del p.Q245del ENST00000297591 NM_015496.4 245 CAA/- 0 0.438 ctccttcttcttgttgttcctct MPRIP 23164 broad.mit.edu;hgsc.bcm.edu GRCh37 17 17046885 17046886 + frameshift_variant Frame_Shift_Ins INS - - C TCGA-P5-A5EX-01 TCGA-P5-A5EX-10 Untested Somatic Phase_I WXS none Illumina GAIIx 51 18 ENST00000395811.5:c.1058dupC p.Ala354SerfsTer43 p.A354Sfs*43 ENST00000395811 NM_015134.3 351 gcc/gCcc 0 0.649 CACCAATGAAGCCCCCCCAGCT AKR1C3 8644 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 10 5144389 5144389 + stop_gained Nonsense_Mutation SNP C C T TCGA-FG-5964-01 TCGA-FG-5964-10 Untested Somatic Phase_I WXS none Illumina GAIIx 61 18 ENST00000380554.3:c.667C>T p.Arg223Ter p.R223* ENST00000380554 NM_003739.5 223 Cga/Tga 0 0.383 GGGATCTCAACGAGACAAACG KIAA1217 56243 hgsc.bcm.edu;broad.mit.edu GRCh37 10 24825812 24825812 + missense_variant Missense_Mutation SNP A A T TCGA-FG-5964-01 TCGA-FG-5964-10 Untested Somatic Phase_I WXS none Illumina GAIIx 65 6 ENST00000376454.3:c.3524A>T p.Lys1175Met p.K1175M ENST00000376454 NM_019590.3 1175 aAg/aTg 0 0.507 GTGCCACCCAAGGAGAAGAAG LRP1 4035 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 12 57588464 57588464 + missense_variant Missense_Mutation SNP G G A TCGA-FG-5964-01 TCGA-FG-5964-10 Untested Somatic Phase_I WXS none Illumina GAIIx 48 13 ENST00000243077.3:c.8173G>A p.Glu2725Lys p.E2725K ENST00000243077 NM_002332.2 2725 Gag/Aag 0 0.597 TGAACATGGCGAGGACGAGAC KLC1 3831 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 14 104143843 104143843 + missense_variant Missense_Mutation SNP A A G TCGA-FG-5964-01 TCGA-FG-5964-10 Untested Somatic Phase_I WXS none Illumina GAIIx 48 23 ENST00000452929.2:c.1471A>G p.Met491Val p.M491V ENST00000452929 NM_001130107.1 491 Atg/Gtg 0 0.398 AGAAGCTGCTATGAGGTCTCG MYO5A 4644 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 15 52720613 52720613 + missense_variant Missense_Mutation SNP G G C TCGA-FG-5964-01 TCGA-FG-5964-10 Untested Somatic Phase_I WXS none Illumina GAIIx 92 42 ENST00000399231.3:c.292C>G p.Leu98Val p.L98V ENST00000399231 NM_000259.3 98 Ctt/Gtt 0 0.408 GTATAAATAAGTTTGGAATCA CLCN7 1186 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 16 1510460 1510460 + missense_variant Missense_Mutation SNP C C T TCGA-FG-5964-01 TCGA-FG-5964-10 Untested Somatic Phase_I WXS none Illumina GAIIx 64 32 ENST00000382745.4:c.553G>A p.Ala185Thr p.A185T ENST00000382745 NM_001287.5 185 Gcc/Acc 0 0.597 AGCACGAAGGCGGCGTTCAGC CDH15 1013 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 16 89261356 89261356 + synonymous_variant Silent SNP G G A TCGA-FG-5964-01 TCGA-FG-5964-10 Untested Somatic Phase_I WXS none Illumina GAIIx 16 9 ENST00000289746.2:c.2238G>A p.Ala746= p.A746= ENST00000289746 NM_004933.2 746 gcG/gcA 0 0.632 GCTCGGTGGCGGGGACGCTGA CCR10 2826 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 40832563 40832563 + missense_variant Missense_Mutation SNP T T C TCGA-FG-5964-01 TCGA-FG-5964-10 Untested Somatic Phase_I WXS none Illumina GAIIx 29 8 ENST00000332438.4:c.97A>G p.Lys33Glu p.K33E ENST00000332438 NM_016602.2 33 Aag/Gag 0 0.637 ACATCGGCCTTGTAGCAAAGC BRINP2 57795 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 177247827 177247827 + missense_variant Missense_Mutation SNP G G A TCGA-FG-5964-01 TCGA-FG-5964-10 Untested Somatic Phase_I WXS none Illumina GAIIx 103 48 ENST00000361539.4:c.1141G>A p.Val381Met p.V381M ENST00000361539 NM_021165.2 381 Gtg/Atg 0 0.607 TGGCTTGAAAGTGCTGTTCAA SIPA1L2 57568 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 232607260 232607260 + synonymous_variant Silent SNP C C T TCGA-FG-5964-01 TCGA-FG-5964-10 Untested Somatic Phase_I WXS none Illumina GAIIx 75 26 ENST00000366630.1:c.2100G>A p.Arg700= p.R700= ENST00000366630 700 agG/agA 0 0.383 TTCCTATGTGCCTTTTCCTCA NCAPH2 29781 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 22 50956005 50956005 + splice_acceptor_variant Splice_Site SNP G G A TCGA-FG-5964-01 TCGA-FG-5964-10 Untested Somatic Phase_I WXS none Illumina GAIIx 72 30 ENST00000299821.11:c.267-1G>A p.X89_splice ENST00000299821 0 0.632 TTCTCTCTCAGGCGGGCCAAG ALMS1 7840 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 73836722 73836722 + missense_variant Missense_Mutation SNP A A G TCGA-FG-5964-01 TCGA-FG-5964-10 Untested Somatic Phase_I WXS none Illumina GAIIx 81 14 ENST00000264448.6:c.12487A>G p.Lys4163Glu p.K4163E ENST00000264448 NM_015120.4 4163 Aaa/Gaa 0 0.433 TCTGGGGAGAAAAGTTCCCTG MARCO 8685 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 119739756 119739756 + missense_variant Missense_Mutation SNP C C T TCGA-FG-5964-01 TCGA-FG-5964-10 Untested Somatic Phase_I WXS none Illumina GAIIx 27 16 ENST00000327097.4:c.926C>T p.Pro309Leu p.P309L ENST00000327097 NM_006770.3 309 cCg/cTg 0 0.642 CAGGGTGTTCCGGGCCCTCCT IDH1 3417 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T rs121913500 TCGA-FG-5964-01 TCGA-FG-5964-10 Untested Somatic Phase_I WXS none Illumina GAIIx 72 17 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 0.393 ATAAGCATGACGACCTATGAT BBS7 55212 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 4 122782768 122782768 + missense_variant Missense_Mutation SNP G G A TCGA-FG-5964-01 TCGA-FG-5964-10 Untested Somatic Phase_I WXS none Illumina GAIIx 11 25 ENST00000264499.4:c.232C>T p.Pro78Ser p.P78S ENST00000264499 NM_176824.2 78 Cct/Tct 0 0.418 TTCTCCTGAGGTGTGTTGATA CAST 831 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 5 96077000 96077000 + missense_variant Missense_Mutation SNP G G A TCGA-FG-5964-01 TCGA-FG-5964-10 Untested Somatic Phase_I WXS none Illumina GAIIx 33 22 ENST00000395812.2:c.826G>A p.Ala276Thr p.A276T ENST00000395812 NM_001042440.2 276 Gcc/Acc 0 0.433 TGCTATAGACGCCTTGTCATC FUCA2 2519 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 6 143823182 143823182 + synonymous_variant Silent SNP T T C TCGA-FG-5964-01 TCGA-FG-5964-10 Untested Somatic Phase_I WXS none Illumina GAIIx 32 24 ENST00000002165.6:c.1041A>G p.Val347= p.V347= ENST00000002165 NM_032020.4 347 gtA/gtG 0 0.408 CCTCAAAAACTACAGAAATGG NRCAM 4897 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 7 107808830 107808830 + missense_variant Missense_Mutation SNP T T C TCGA-FG-5964-01 TCGA-FG-5964-10 Untested Somatic Phase_I WXS none Illumina GAIIx 32 6 ENST00000379028.3:c.3205A>G p.Arg1069Gly p.R1069G ENST00000379028 1069 Agg/Ggg 0 0.353 TTGCTGATCCTGGGATTTACT RAB2A 5862 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 8 61484623 61484623 + missense_variant Missense_Mutation SNP G G A TCGA-FG-5964-01 TCGA-FG-5964-10 Untested Somatic Phase_I WXS none Illumina GAIIx 36 11 ENST00000262646.7:c.137G>A p.Arg46Gln p.R46Q ENST00000262646 NM_002865.2 46 cGa/cAa 0 0.323 TTCGGTGCTCGAATGATAACT SPANXD 64648 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 140785767 140785767 + missense_variant Missense_Mutation SNP A A G TCGA-FG-5964-01 TCGA-FG-5964-10 Untested Somatic Phase_I WXS none Illumina GAIIx 53 78 ENST00000370515.3:c.149T>C p.Ile50Thr p.I50T ENST00000370515 NM_145665.1 50 aTa/aCa 0 0.498 AACCACTAGTATGGTCGAGGA OR1A1 8383 broad.mit.edu;ucsc.edu GRCh37 17 3119138 3119138 + missense_variant Missense_Mutation SNP C C T TCGA-FG-5964-01 TCGA-FG-5964-10 Untested Somatic Phase_I WXS none Illumina GAIIx 134 50 ENST00000304094.1:c.224C>T p.Ser75Leu p.S75L ENST00000304094 NM_014565.2 75 tCg/tTg 0 0.483 TTCTTCTCATCGGTAACCATC HIST1H3C 8352 broad.mit.edu;ucsc.edu GRCh37 6 26045799 26045799 + missense_variant Missense_Mutation SNP G G A TCGA-FG-5964-01 TCGA-FG-5964-10 Untested Somatic Phase_I WXS none Illumina GAIIx 35 5 ENST00000540144.1:c.161G>A p.Arg54His p.R54H ENST00000540144 NM_003531.2 54 cGc/cAc 0 0.622 GAAATCCGTCGCTACCAGAAG OBSCN 84033 broad.mit.edu;ucsc.edu GRCh37 1 228529314 228529314 + stop_gained,splice_region_variant Nonsense_Mutation SNP G G A TCGA-FG-5964-01 TCGA-FG-5964-10 Untested Somatic Phase_I WXS none Illumina GAIIx 20 5 ENST00000570156.2:c.20904G>A p.Trp6968Ter p.W6968* ENST00000570156 NM_001271223.2 6968 tgG/tgA 0 0.672 TGCCTGTGTGGCGTGAGTGTC HCLS1 3059 broad.mit.edu;ucsc.edu GRCh37 3 121351926 121351926 + missense_variant Missense_Mutation SNP C C A TCGA-FG-5964-01 TCGA-FG-5964-10 Untested Somatic Phase_I WXS none Illumina GAIIx 21 6 ENST00000314583.3:c.996G>T p.Gln332His p.Q332H ENST00000314583 NM_005335.4 332 caG/caT 0 0.587 CCGGGAGAGTCTGCCTAATGG CLK1 1195 broad.mit.edu;hgsc.bcm.edu GRCh37 2 201726490 201726493 + frameshift_variant Frame_Shift_Del DEL CTTC CTTC - TCGA-FG-5964-01 TCGA-FG-5964-10 Untested Somatic Phase_I WXS none Illumina GAIIx 165 45 ENST00000434813.2:c.219_222delGAAG p.Lys74AspfsTer30 p.K74Dfs*30 ENST00000434813 NM_001162407.1 73 agGAAG/ag 0 0.397 TATGTGATCTCTTCCTTCTTTTAT RBPJ 3516 broad.mit.edu;hgsc.bcm.edu GRCh37 4 26426086 26426088 + inframe_deletion In_Frame_Del DEL TTT TTT - TCGA-FG-5964-01 TCGA-FG-5964-10 Untested Somatic Phase_I WXS none Illumina GAIIx 78 28 ENST00000342295.1:c.661_663delTTT p.Phe221del p.F221del ENST00000342295 NM_005349.3 220 TTT/- 0 0.36 GTGGGGAGCCTTTTTTATTCATC ZFHX4 79776 broad.mit.edu;hgsc.bcm.edu GRCh37 8 77776374 77776377 + frameshift_variant Frame_Shift_Del DEL CAAT CAAT - rs76951673 TCGA-FG-5964-01 TCGA-FG-5964-10 Untested Somatic Phase_I WXS none Illumina GAIIx 44 22 ENST00000521891.2:c.10427_10430delTCAA p.Ile3476AsnfsTer4 p.I3476Nfs*4 ENST00000521891 NM_024721.4 3475 aCAATc/ac 0 0.456 AAAGAGAAAACAATCAAACAAGCA RBM12B 389677 broad.mit.edu;hgsc.bcm.edu GRCh37 8 94745644 94745648 + frameshift_variant Frame_Shift_Del DEL TTAAC TTAAC - TCGA-FG-5964-01 TCGA-FG-5964-10 Untested Somatic Phase_I WXS none Illumina GAIIx 47 19 ENST00000399300.2:c.2991_2995delGTTAA p.Lys997AsnfsTer10 p.K997Nfs*10 ENST00000399300 NM_203390.2 997 aaGTTAAct/aact 0 0.332 TACAGCAAAGTTAACTTAACTTTTC C12orf65 91574 broad.mit.edu;hgsc.bcm.edu GRCh37 12 123738357 123738359 + inframe_deletion In_Frame_Del DEL AAG AAG - TCGA-FG-5964-01 TCGA-FG-5964-10 Untested Somatic Phase_I WXS none Illumina GAIIx 51 10 ENST00000253233.1:c.139_141delAAG p.Lys47del p.K47del ENST00000253233 NM_152269.4 46 AAG/- 0 0.557 GATGGCAGGCAAGAAGGACTACC UBL3 5412 broad.mit.edu;hgsc.bcm.edu GRCh37 13 30341404 30341406 + inframe_deletion In_Frame_Del DEL ACA ACA - TCGA-FG-5964-01 TCGA-FG-5964-10 Untested Somatic Phase_I WXS none Illumina GAIIx 38 12 ENST00000380680.4:c.340_342delTGT p.Cys114del p.C114del ENST00000380680 NM_007106.3 114 TGT/- 0 0.433 ACAGGATTACACAACAATTACTC TINF2 26277 broad.mit.edu;hgsc.bcm.edu GRCh37 14 24709491 24709493 + inframe_deletion In_Frame_Del DEL TAA TAA - TCGA-FG-5964-01 TCGA-FG-5964-10 Untested Somatic Phase_I WXS none Illumina GAIIx 80 19 ENST00000267415.7:c.1105_1107delTTA p.Leu369del p.L369del ENST00000267415 NM_001099274.1 369 TTA/- 0 0.498 CCCTAGGAGGTAATAATGATAGT PAF1 54623 broad.mit.edu;hgsc.bcm.edu GRCh37 19 39879756 39879758 + inframe_deletion In_Frame_Del DEL TCT TCT - TCGA-FG-5964-01 TCGA-FG-5964-10 Untested Somatic Phase_I WXS none Illumina GAIIx 104 30 ENST00000221265.3:c.542_544delAGA p.Lys181del p.K181del ENST00000221265 NM_019088.3 181 aAGAct/act 0 0.483 TCCTCAAAAGTCTTCTCAATGGC CIC 23152 broad.mit.edu;hgsc.bcm.edu GRCh37 19 42797980 42797981 + frameshift_variant Frame_Shift_Del DEL TG TG - TCGA-FG-5964-01 TCGA-FG-5964-10 Untested Somatic Phase_I WXS none Illumina GAIIx 35 32 ENST00000575354.2:c.4034_4035delTG p.Val1345GlyfsTer16 p.V1345Gfs*16 ENST00000575354 NM_015125.3 1344 tcTGtg/tctg 0 0.693 CCTTTGACTCTGTGGACAAGTG YME1L1 10730 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 10 27420861 27420861 + missense_variant Missense_Mutation SNP C C T TCGA-DH-A66F-01 TCGA-DH-A66F-10 Untested Somatic Phase_I WXS none Illumina GAIIx 47 20 ENST00000326799.3:c.956G>A p.Arg319Gln p.R319Q ENST00000326799 NM_139312.2 319 cGg/cAg 0 0.373 TGTTGTTGTCCGGAAGCGGAC HPS5 11234 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 11 18339305 18339305 + missense_variant Missense_Mutation SNP C C T TCGA-DH-A66F-01 TCGA-DH-A66F-10 Untested Somatic Phase_I WXS none Illumina GAIIx 12 8 ENST00000349215.3:c.101G>A p.Arg34His p.R34H ENST00000349215 NM_181507.1 34 cGt/cAt 0 0.463 CACCTTTAGACGACTGGAGTC PLEKHG6 55200 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 12 6422805 6422805 + missense_variant Missense_Mutation SNP G G A TCGA-DH-A66F-01 TCGA-DH-A66F-10 Untested Somatic Phase_I WXS none Illumina GAIIx 91 44 ENST00000396988.3:c.149G>A p.Arg50His p.R50H ENST00000396988 NM_001144856.1 50 cGc/cAc 0 0.637 GATCCCAGTCGCCGACGCCTC SLC6A2 6530 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 16 55735794 55735794 + missense_variant Missense_Mutation SNP C C T TCGA-DH-A66F-01 TCGA-DH-A66F-10 Untested Somatic Phase_I WXS none Illumina GAIIx 101 40 ENST00000219833.8:c.1778C>T p.Thr593Met p.T593M ENST00000219833 NM_001172504.1 593 aCg/aTg 0 0.622 TATGGCATCACGCCAGAGAAC TRPV2 51393 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 16321163 16321163 + stop_gained Nonsense_Mutation SNP C C T TCGA-DH-A66F-01 TCGA-DH-A66F-10 Untested Somatic Phase_I WXS none Illumina GAIIx 45 14 ENST00000338560.7:c.181C>T p.Arg61Ter p.R61* ENST00000338560 NM_016113.4 61 Cga/Tga 0 0.597 CCTCAACTACCGAAAGGGAAC UNC13D 201294 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 73832286 73832286 + missense_variant Missense_Mutation SNP C C T TCGA-DH-A66F-01 TCGA-DH-A66F-10 Untested Somatic Phase_I WXS none Illumina GAIIx 29 5 ENST00000207549.4:c.1441G>A p.Val481Met p.V481M ENST00000207549 NM_199242.2 481 Gtg/Atg 0 0.667 CTCACCTGCACCATGGGTTGA UNC13A 23025 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 19 17752214 17752214 + missense_variant Missense_Mutation SNP T T C TCGA-DH-A66F-01 TCGA-DH-A66F-10 Untested Somatic Phase_I WXS none Illumina GAIIx 45 24 ENST00000519716.2:c.2624A>G p.Tyr875Cys p.Y875C ENST00000519716 NM_001080421.2 875 tAc/tGc 0 0.592 CATGGCTTGGTAGATGGACTC KIR2DL1 3802 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 19 55285048 55285048 + missense_variant Missense_Mutation SNP T T A TCGA-DH-A66F-01 TCGA-DH-A66F-10 Untested Somatic Phase_I WXS none Illumina GAIIx 126 95 ENST00000336077.6:c.334T>A p.Ser112Thr p.S112T ENST00000336077 NM_014218.2 112 Tca/Aca 0 0.522 CTATCAGGTGTCAGCTCCCAG FOXS1 2307 hgsc.bcm.edu;broad.mit.edu GRCh37 20 30432674 30432674 + synonymous_variant Silent SNP G G A TCGA-DH-A66F-01 TCGA-DH-A66F-10 Untested Somatic Phase_I WXS none Illumina GAIIx 91 6 ENST00000375978.3:c.672C>T p.Phe224= p.F224= ENST00000375978 NM_004118.3 224 ttC/ttT 0 0.587 CAGCCTCTGAGAAGCCGGCAG ZNF335 63925 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 20 44578967 44578967 + missense_variant Missense_Mutation SNP G G C TCGA-DH-A66F-01 TCGA-DH-A66F-10 Untested Somatic Phase_I WXS none Illumina GAIIx 82 55 ENST00000322927.2:c.3378C>G p.His1126Gln p.H1126Q ENST00000322927 NM_022095.3 1126 caC/caG 0 0.582 CATCAGGACTGTGCAGCCGCT SYNJ1 8867 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 21 34038343 34038343 + synonymous_variant Silent SNP G G A TCGA-DH-A66F-01 TCGA-DH-A66F-10 Untested Somatic Phase_I WXS none Illumina GAIIx 22 11 ENST00000433931.2:c.2172C>T p.Phe724= p.F724= ENST00000433931 NM_003895.3 724 ttC/ttT 0 0.423 GGCTACAGACGAAGCAAAGGC IDH1 3417 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T rs121913500 TCGA-DH-A66F-01 TCGA-DH-A66F-10 Untested Somatic Phase_I WXS none Illumina GAIIx 34 22 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 0.393 ATAAGCATGACGACCTATGAT ITIH3 3699 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 3 52840399 52840399 + missense_variant Missense_Mutation SNP G G A TCGA-DH-A66F-01 TCGA-DH-A66F-10 Untested Somatic Phase_I WXS none Illumina GAIIx 44 13 ENST00000449956.2:c.2033G>A p.Arg678His p.R678H ENST00000449956 NM_002217.3 678 cGc/cAc 0 0.612 ACAGTGCTGCGCCTTATTCAG SLC23A1 9963 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 5 138713162 138713162 + missense_variant Missense_Mutation SNP A A G TCGA-DH-A66F-01 TCGA-DH-A66F-10 Untested Somatic Phase_I WXS none Illumina GAIIx 28 23 ENST00000353963.3:c.1490T>C p.Leu497Pro p.L497P ENST00000353963 NM_152685.3 497 cTg/cCg 0 0.527 CAGCACAATCAGAATCTGATC ARID1B 57492 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 6 157495231 157495231 + stop_gained Nonsense_Mutation SNP C C T TCGA-DH-A66F-01 TCGA-DH-A66F-10 Untested Somatic Phase_I WXS none Illumina GAIIx 64 9 ENST00000346085.5:c.3115C>T p.Gln1039Ter p.Q1039* ENST00000346085 NM_020732.3 1039 Cag/Tag 0 0.522 AGGCACTCCACAGCCCGAGAG COL15A1 1306 broad.mit.edu;ucsc.edu GRCh37 9 101832036 101832036 + synonymous_variant Silent SNP G G A TCGA-DH-A66F-01 TCGA-DH-A66F-10 Untested Somatic Phase_I WXS none Illumina GAIIx 123 68 ENST00000375001.3:c.4035G>A p.Ala1345= p.A1345= ENST00000375001 NM_001855.4 1345 gcG/gcA 0 0.537 GGCGAACCGCGGACACAGCGG ASCC1 51008 broad.mit.edu;hgsc.bcm.edu GRCh37 10 73970535 73970535 + frameshift_variant Frame_Shift_Del DEL G G - TCGA-DH-A66F-01 TCGA-DH-A66F-10 Untested Somatic Phase_I WXS none Illumina GAIIx 45 18 ENST00000342444.4:c.167delC p.Pro56HisfsTer8 p.P56Hfs*8 ENST00000342444 NM_001198799.2 56 cCa/ca 0 0.527 GAATCCTTGTGGGGTCTGCTC CIC 23152 broad.mit.edu GRCh37 19 42792001 42792001 + missense_variant Missense_Mutation SNP T T C TCGA-DH-A66F-01 TCGA-DH-A66F-10 Untested Somatic Phase_I WXS none Illumina GAIIx 4 6 ENST00000575354.2:c.805T>C p.Trp269Arg p.W269R ENST00000575354 NM_015125.3 269 Tgg/Cgg 0 0.632 AGATTGGAAGTGGTGCAACAA SERPING1 710 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 11 57367766 57367766 + missense_variant Missense_Mutation SNP G G A rs139035354 by1000genomes TCGA-HT-7684-01 TCGA-HT-7684-10 Untested Somatic Phase_I WXS none Illumina GAIIx 72 57 ENST00000278407.4:c.466G>A p.Ala156Thr p.A156T ENST00000278407 NM_000062.2 156 Gcc/Acc 0 0.542 GCTCTACCACGCCTTCTCAGC MS4A14 84689 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 11 60183353 60183353 + synonymous_variant Silent SNP T T C TCGA-HT-7684-01 TCGA-HT-7684-10 Untested Somatic Phase_I WXS none Illumina GAIIx 31 27 ENST00000531783.1:c.1011T>C p.Phe337= p.F337= ENST00000531783 NM_001261828.1 337 ttT/ttC 0 0.423 TCCAAGTTTTTCCATCCCATT TMTC1 83857 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 12 29659825 29659825 + missense_variant Missense_Mutation SNP C C T rs35279918 TCGA-HT-7684-01 TCGA-HT-7684-10 Untested Somatic Phase_I WXS none Illumina GAIIx 78 33 ENST00000539277.1:c.2603G>A p.Arg868His p.R868H ENST00000539277 NM_001193451.1 868 cGc/cAc 0 0.453 TTTTTCTAGGCGATCCAATTT DCLK1 9201 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 13 36686247 36686247 + missense_variant Missense_Mutation SNP C C T TCGA-HT-7684-01 TCGA-HT-7684-10 Untested Somatic Phase_I WXS none Illumina GAIIx 43 13 ENST00000255448.4:c.482G>A p.Arg161Gln p.R161Q ENST00000255448 NM_004734.4 161 cGg/cAg 0 0.522 AGACACTGCCCGAGAAGCCGA DIS3 22894 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 13 73346337 73346337 + missense_variant Missense_Mutation SNP T T C TCGA-HT-7684-01 TCGA-HT-7684-10 Untested Somatic Phase_I WXS none Illumina GAIIx 28 17 ENST00000377767.4:c.1463A>G p.Asp488Gly p.D488G ENST00000377767 NM_014953.3 488 gAt/gGt 0 0.363 ATGTAGAGCATCGTCTATATC FOXG1 2290 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 14 29237034 29237034 + synonymous_variant Silent SNP G G A TCGA-HT-7684-01 TCGA-HT-7684-10 Untested Somatic Phase_I WXS none Illumina GAIIx 22 12 ENST00000382535.3:c.549G>A p.Pro183= p.P183= ENST00000382535 183 ccG/ccA 0 0.637 AGAAGCCGCCGTTCAGCTACA ISM2 145501 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 14 77942239 77942239 + missense_variant Missense_Mutation SNP G G A TCGA-HT-7684-01 TCGA-HT-7684-10 Untested Somatic Phase_I WXS none Illumina GAIIx 25 8 ENST00000342219.4:c.1415C>T p.Ala472Val p.A472V ENST00000342219 NM_199296.2 472 gCg/gTg 0 0.677 GCAGAAGCGCGCCGTGGGCTG TTYH2 94015 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 72249349 72249349 + synonymous_variant Silent SNP G G A TCGA-HT-7684-01 TCGA-HT-7684-10 Untested Somatic Phase_I WXS none Illumina GAIIx 66 20 ENST00000269346.4:c.1389G>A p.Gln463= p.Q463= ENST00000269346 NM_032646.5 463 caG/caA 0 0.647 TGGGAAGTCAGACCAGCCTGC EVPL 2125 hgsc.bcm.edu;broad.mit.edu GRCh37 17 74003681 74003681 + missense_variant Missense_Mutation SNP C C T TCGA-HT-7684-01 TCGA-HT-7684-10 Untested Somatic Phase_I WXS none Illumina GAIIx 55 5 ENST00000301607.3:c.5605G>A p.Val1869Met p.V1869M ENST00000301607 NM_001988.2 1869 Gtg/Atg 0 0.617 AGCAGGTCCACGATGCCCCCT C3 718 hgsc.bcm.edu;broad.mit.edu GRCh37 19 6712560 6712560 + missense_variant Missense_Mutation SNP T T C TCGA-HT-7684-01 TCGA-HT-7684-10 Untested Somatic Phase_I WXS none Illumina GAIIx 206 15 ENST00000245907.6:c.1078A>G p.Thr360Ala p.T360A ENST00000245907 NM_000064.2 360 Aca/Gca 0 0.622 TACTTGGGTGTCTTGGTGAAG ALG6 29929 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 63876858 63876858 + missense_variant Missense_Mutation SNP T T C TCGA-HT-7684-01 TCGA-HT-7684-10 Untested Somatic Phase_I WXS none Illumina GAIIx 152 56 ENST00000371108.4:c.536T>C p.Leu179Pro p.L179P ENST00000371108 NM_013339.3 179 cTt/cCt 0 0.363 TGGGGTGTTCTTGGAATATCT DLGAP4 22839 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 20 35060961 35060961 + missense_variant Missense_Mutation SNP G G T TCGA-HT-7684-01 TCGA-HT-7684-10 Untested Somatic Phase_I WXS none Illumina GAIIx 8 11 ENST00000373913.3:c.841G>T p.Gly281Trp p.G281W ENST00000373913 281 Ggg/Tgg 0 0.632 CCCCAGCCTTGGGGTGGGCAC LRP2 4036 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 170038748 170038748 + synonymous_variant Silent SNP C C T TCGA-HT-7684-01 TCGA-HT-7684-10 Untested Somatic Phase_I WXS none Illumina GAIIx 95 34 ENST00000263816.3:c.9927G>A p.Gln3309= p.Q3309= ENST00000263816 NM_004525.2 3309 caG/caA 0 0.532 CCACACAGTGCTGGGCCAGCA ANKAR 150709 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 190585366 190585366 + missense_variant Missense_Mutation SNP A A C TCGA-HT-7684-01 TCGA-HT-7684-10 Untested Somatic Phase_I WXS none Illumina GAIIx 49 20 ENST00000520309.1:c.2488A>C p.Asn830His p.N830H ENST00000520309 NM_144708.3 830 Aat/Cat 0 0.284 AAGCCTGATAAATCTATTGAA IDH1 3417 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T rs121913500 TCGA-HT-7684-01 TCGA-HT-7684-10 Untested Somatic Phase_I WXS none Illumina GAIIx 50 38 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 0.393 ATAAGCATGACGACCTATGAT SETD2 29072 hgsc.bcm.edu;broad.mit.edu GRCh37 3 47103767 47103767 + stop_gained Nonsense_Mutation SNP G G C TCGA-HT-7684-01 TCGA-HT-7684-10 Untested Somatic Phase_I WXS none Illumina GAIIx 156 8 ENST00000409792.3:c.6179C>G p.Ser2060Ter p.S2060* ENST00000409792 NM_014159.6 2060 tCa/tGa 0 0.463 TCTCTCTCTTGACCTATTAGG CCDC54 84692 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 3 107097101 107097101 + missense_variant Missense_Mutation SNP C C T TCGA-HT-7684-01 TCGA-HT-7684-10 Untested Somatic Phase_I WXS none Illumina GAIIx 42 27 ENST00000261058.1:c.667C>T p.Arg223Cys p.R223C ENST00000261058 NM_032600.2 223 Cgt/Tgt 0 0.378 TCTGAAGAAACGTAACCATCA SLC9C1 285335 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 3 111887770 111887770 + missense_variant Missense_Mutation SNP C C T TCGA-HT-7684-01 TCGA-HT-7684-10 Untested Somatic Phase_I WXS none Illumina GAIIx 58 20 ENST00000305815.5:c.3191G>A p.Arg1064Gln p.R1064Q ENST00000305815 NM_183061.1 1064 cGa/cAa 0 0.323 ATAAGTTTTTCGTAACAGACA TRPC7 57113 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 5 135561020 135561020 + missense_variant Missense_Mutation SNP A A G TCGA-HT-7684-01 TCGA-HT-7684-10 Untested Somatic Phase_I WXS none Illumina GAIIx 16 9 ENST00000513104.1:c.2285T>C p.Met762Thr p.M762T ENST00000513104 NM_020389.2 762 aTg/aCg 0 0.453 AGAATTCCTCATGCCAGCCTG LY6G6D 58530 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 6 31685399 31685399 + missense_variant Missense_Mutation SNP G G A TCGA-HT-7684-01 TCGA-HT-7684-10 Untested Somatic Phase_I WXS none Illumina GAIIx 199 97 ENST00000375825.3:c.220G>A p.Ala74Thr p.A74T ENST00000375825 NM_021246.2 74 Gcc/Acc 0 0.577 CTGCGTCGCAGCCCATCATTG DST 667 hgsc.bcm.edu;ucsc.edu GRCh37 6 56483529 56483529 + intron_variant Intron SNP G G A TCGA-HT-7684-01 TCGA-HT-7684-10 Untested Somatic Phase_I WXS none Illumina GAIIx 64 21 ENST00000244364.6:c.3319-4247C>T *1107* ENST00000244364 NM_015548.4 0 0.358 ATCATTTTCAGTGATGACTTT EEF1A1 1915 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 6 74229668 74229668 + missense_variant Missense_Mutation SNP T T C TCGA-HT-7684-01 TCGA-HT-7684-10 Untested Somatic Phase_I WXS none Illumina GAIIx 43 15 ENST00000316292.9:c.82A>G p.Ile28Val p.I28V ENST00000316292 NM_001402.5 28 Atc/Gtc 0 0.413 CATTTATAGATCAGATGGCCA CD36 948 hgsc.bcm.edu;broad.mit.edu GRCh37 7 80286000 80286000 + missense_variant Missense_Mutation SNP G G A TCGA-HT-7684-01 TCGA-HT-7684-10 Untested Somatic Phase_I WXS none Illumina GAIIx 83 4 ENST00000435819.1:c.265G>A p.Gly89Ser p.G89S ENST00000435819 89 Ggt/Agt 0 0.398 TAAGCAAAGAGGTCCTTATAC TBC1D2 55357 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 9 100991314 100991314 + missense_variant Missense_Mutation SNP G G A TCGA-HT-7684-01 TCGA-HT-7684-10 Untested Somatic Phase_I WXS none Illumina GAIIx 43 13 ENST00000375066.5:c.898C>T p.Arg300Trp p.R300W ENST00000375066 NM_018421.3 300 Cgg/Tgg 0 0.522 GTTCGGTTCCGTGTGATTCCT OR13D1 286365 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 9 107456818 107456818 + missense_variant Missense_Mutation SNP C C G TCGA-HT-7684-01 TCGA-HT-7684-10 Untested Somatic Phase_I WXS none Illumina GAIIx 27 7 ENST00000318763.5:c.116C>G p.Ser39Cys p.S39C ENST00000318763 NM_001004484.1 39 tCt/tGt 0 0.423 AGAAATTACTCTGCCATGACT MUSK 4593 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 9 113562782 113562782 + missense_variant Missense_Mutation SNP G G C TCGA-HT-7684-01 TCGA-HT-7684-10 Untested Somatic Phase_I WXS none Illumina GAIIx 121 32 ENST00000374448.4:c.2124G>C p.Gln708His p.Q708H ENST00000374448 NM_005592.3 708 caG/caC 0 0.567 TTGCCAGGCAGGTGGCAGCTG PTGS1 5742 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 9 125154668 125154668 + missense_variant Missense_Mutation SNP T T G TCGA-HT-7684-01 TCGA-HT-7684-10 Untested Somatic Phase_I WXS none Illumina GAIIx 67 26 ENST00000362012.2:c.1645T>G p.Phe549Val p.F549V ENST00000362012 NM_000962.3 549 Ttt/Gtt 0 0.537 GCCGAGCACATTTGGCGGCGA HCCS 3052 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 11135492 11135492 + missense_variant Missense_Mutation SNP T T C TCGA-HT-7684-01 TCGA-HT-7684-10 Untested Somatic Phase_I WXS none Illumina GAIIx 34 43 ENST00000321143.4:c.358T>C p.Tyr120His p.Y120H ENST00000321143 NM_005333.4 120 Tac/Cac 0 0.383 AAAGTGGGTTTACCCTTCTGA NOL8 55035 broad.mit.edu;ucsc.edu GRCh37 9 95077012 95077012 + missense_variant Missense_Mutation SNP T T C TCGA-HT-7684-01 TCGA-HT-7684-10 Untested Somatic Phase_I WXS none Illumina GAIIx 11 6 ENST00000545558.1:c.1895A>G p.His632Arg p.H632R ENST00000545558 632 cAt/cGt 0 0.453 CTTCTTTGCATGTTGGCATGG EFTUD2 9343 broad.mit.edu;ucsc.edu GRCh37 17 42931994 42931994 + missense_variant Missense_Mutation SNP C C T TCGA-HT-7684-01 TCGA-HT-7684-10 Untested Somatic Phase_I WXS none Illumina GAIIx 31 18 ENST00000426333.2:c.2189G>A p.Arg730His p.R730H ENST00000426333 NM_001142605.1 730 cGt/cAt 0 0.567 CCAGATGGAACGGGCAGCCAG SSPO 23145 broad.mit.edu;ucsc.edu GRCh37 7 149482723 149482723 + non_coding_transcript_exon_variant RNA SNP C C G TCGA-HT-7684-01 TCGA-HT-7684-10 Untested Somatic Phase_I WXS none Illumina GAIIx 7 5 ENST00000378016.2:n.3139C>G *1047* ENST00000378016 0 0.627 GGCCAGTGGCCTATTCACAGT IQGAP1 8826 broad.mit.edu;ucsc.edu GRCh37 15 91034589 91034589 + stop_gained Nonsense_Mutation SNP C C T TCGA-HT-7684-01 TCGA-HT-7684-10 Untested Somatic Phase_I WXS none Illumina GAIIx 27 4 ENST00000268182.5:c.4273C>T p.Gln1425Ter p.Q1425* ENST00000268182 NM_003870.3 1425 Cag/Tag 0 0.398 GAGAGCCATGCAGAGACGTGC SYNE2 23224 broad.mit.edu;ucsc.edu GRCh37 14 64676802 64676802 + missense_variant Missense_Mutation SNP A A G TCGA-HT-7684-01 TCGA-HT-7684-10 Untested Somatic Phase_I WXS none Illumina GAIIx 19 8 ENST00000358025.3:c.18683A>G p.Asn6228Ser p.N6228S ENST00000358025 NM_182914.2 6228 aAc/aGc 0 0.622 CGCTGGGACAACCTTCAGAGG KLHL28 54813 broad.mit.edu;hgsc.bcm.edu GRCh37 14 45415078 45415078 + frameshift_variant Frame_Shift_Del DEL A A - TCGA-HT-7684-01 TCGA-HT-7684-10 Untested Somatic Phase_I WXS none Illumina GAIIx 59 21 ENST00000396128.4:c.54delT p.Glu19AsnfsTer7 p.E19Nfs*7 ENST00000396128 NM_017658.3 18 tcT/tc 0 0.403 GAAGTTGTTCAGAATGCAAGT TLL2 7093 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 10 98129891 98129891 + synonymous_variant Silent SNP G G A TCGA-FG-A60J-01 TCGA-FG-A60J-10 Untested Somatic Phase_I WXS none Illumina GAIIx 84 11 ENST00000357947.3:c.2844C>T p.Tyr948= p.Y948= ENST00000357947 NM_012465.3 948 taC/taT 0 0.667 CCATGTAGTCGTAGCCGCAGT OR5I1 10798 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 11 55703053 55703053 + missense_variant Missense_Mutation SNP A A G TCGA-FG-A60J-01 TCGA-FG-A60J-10 Untested Somatic Phase_I WXS none Illumina GAIIx 29 16 ENST00000301532.3:c.824T>C p.Ile275Thr p.I275T ENST00000301532 NM_006637.1 275 aTt/aCt 0 0.408 CACTGAGATAATTTTATCAGT LRRC55 219527 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 11 56949447 56949447 + missense_variant Missense_Mutation SNP A A G TCGA-FG-A60J-01 TCGA-FG-A60J-10 Untested Somatic Phase_I WXS none Illumina GAIIx 64 11 ENST00000497933.1:c.80A>G p.Asp27Gly p.D27G ENST00000497933 NM_001005210.2 27 gAc/gGc 0 0.607 GATTCCATGGACACAGTCCTC CASP1 834 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 11 104897057 104897057 + missense_variant Missense_Mutation SNP A A C TCGA-FG-A60J-01 TCGA-FG-A60J-10 Untested Somatic Phase_I WXS none Illumina GAIIx 84 8 ENST00000533400.1:c.1143T>G p.Asp381Glu p.D381E ENST00000533400 NM_001257118.1 381 gaT/gaG 0 0.393 GCGCTCTACCATCTGGCTGCT CLEC12A 160364 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 12 10131591 10131591 + missense_variant Missense_Mutation SNP C C T rs141455664 byFrequency TCGA-FG-A60J-01 TCGA-FG-A60J-10 Untested Somatic Phase_I WXS none Illumina GAIIx 73 46 ENST00000355690.4:c.148C>T p.Arg50Cys p.R50C ENST00000355690 NM_001207010.1 50 Cgt/Tgt 0 0.433 TCATGTATGGCGTCCAGCAGC SRRM4 84530 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 12 119592158 119592158 + missense_variant Missense_Mutation SNP C C T TCGA-FG-A60J-01 TCGA-FG-A60J-10 Untested Somatic Phase_I WXS none Illumina GAIIx 19 18 ENST00000267260.4:c.1502C>T p.Pro501Leu p.P501L ENST00000267260 NM_194286.3 501 cCg/cTg 0 0.632 AGAGACTCCCCGAGCCACCTG NEMF 9147 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 14 50269393 50269393 + synonymous_variant Silent SNP A A C TCGA-FG-A60J-01 TCGA-FG-A60J-10 Untested Somatic Phase_I WXS none Illumina GAIIx 55 6 ENST00000298310.5:c.1968T>G p.Leu656= p.L656= ENST00000298310 656 ctT/ctG 0 0.318 GTACCTTAAAAAGGAAGCTAA SYNE2 23224 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 14 64683079 64683079 + missense_variant Missense_Mutation SNP T T C TCGA-FG-A60J-01 TCGA-FG-A60J-10 Untested Somatic Phase_I WXS none Illumina GAIIx 51 38 ENST00000358025.3:c.19516T>C p.Ser6506Pro p.S6506P ENST00000358025 NM_182914.2 6506 Tcc/Ccc 0 0.498 TCCCCCTGCGTCCAGCACCCC CHRNA5 1138 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 15 78882881 78882881 + missense_variant Missense_Mutation SNP G G A TCGA-FG-A60J-01 TCGA-FG-A60J-10 Untested Somatic Phase_I WXS none Illumina GAIIx 59 34 ENST00000299565.5:c.1148G>A p.Gly383Asp p.G383D ENST00000299565 NM_000745.3 383 gGt/gAt 0 0.438 ACTGAGAGTGGTAGTGGACCA ABR 29 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 915191 915191 + stop_gained Nonsense_Mutation SNP G G A TCGA-FG-A60J-01 TCGA-FG-A60J-10 Untested Somatic Phase_I WXS none Illumina GAIIx 78 55 ENST00000302538.5:c.1996C>T p.Gln666Ter p.Q666* ENST00000302538 NM_021962.3 666 Cag/Tag 0 0.652 TCCACACACTGCCGGACGATG TP53 7157 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 7577157 7577157 + splice_acceptor_variant Splice_Site SNP T T G TCGA-FG-A60J-01 TCGA-FG-A60J-10 Untested Somatic Phase_I WXS none Illumina GAIIx 14 11 ENST00000269305.4:c.783-2A>C p.X261_splice ENST00000269305 NM_001126112.2 0 0.512 AGATTACCACTACTCAGGATA TP53 7157 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 7577574 7577574 + missense_variant Missense_Mutation SNP T T C TCGA-FG-A60J-01 TCGA-FG-A60J-10 Untested Somatic Phase_I WXS none Illumina GAIIx 40 45 ENST00000269305.4:c.707A>G p.Tyr236Cys p.Y236C ENST00000269305 NM_001126112.2 236 tAc/tGc 0 0.572 GTTACACATGTAGTTGTAGTG HS3ST3A1 9955 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 13400056 13400056 + missense_variant Missense_Mutation SNP C C T TCGA-FG-A60J-01 TCGA-FG-A60J-10 Untested Somatic Phase_I WXS none Illumina GAIIx 177 53 ENST00000284110.1:c.679G>A p.Ala227Thr p.A227T ENST00000284110 NM_006042.1 227 Gcg/Acg 0 0.627 GAGATGCGCGCGGGGGCCTCC SH2D1B 117157 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 162381781 162381781 + missense_variant Missense_Mutation SNP C C T TCGA-FG-A60J-01 TCGA-FG-A60J-10 Untested Somatic Phase_I WXS none Illumina GAIIx 79 10 ENST00000367929.2:c.26G>A p.Arg9His p.R9H ENST00000367929 NM_053282.4 9 cGt/cAt 0 0.532 CTTGGTCAGACGTCCATGGTA OR2M3 127062 hgsc.bcm.edu;broad.mit.edu GRCh37 1 248366698 248366698 + missense_variant Missense_Mutation SNP C C G TCGA-FG-A60J-01 TCGA-FG-A60J-10 Untested Somatic Phase_I WXS none Illumina GAIIx 300 22 ENST00000456743.1:c.329C>G p.Ser110Cys p.S110C ENST00000456743 NM_001004689.1 110 tCt/tGt 0 0.458 CTGCTTGGCTCTGAGTGCTTT SSTR3 6753 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 22 37603530 37603530 + missense_variant Missense_Mutation SNP C C T TCGA-FG-A60J-01 TCGA-FG-A60J-10 Untested Somatic Phase_I WXS none Illumina GAIIx 80 54 ENST00000328544.3:c.313G>A p.Ala105Thr p.A105T ENST00000328544 NM_001051.3 105 Gcc/Acc 0 0.622 TAGGACAGGGCGTTCTGGGCG MPPED1 758 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 22 43898541 43898541 + missense_variant Missense_Mutation SNP C C A TCGA-FG-A60J-01 TCGA-FG-A60J-10 Untested Somatic Phase_I WXS none Illumina GAIIx 158 17 ENST00000417669.2:c.766C>A p.Pro256Thr p.P256T ENST00000417669 256 Ccc/Acc 0 0.632 GGACTGGGTCCCCAAGAAGAT IDH1 3417 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T rs121913500 TCGA-FG-A60J-01 TCGA-FG-A60J-10 Untested Somatic Phase_I WXS none Illumina GAIIx 53 16 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 0.393 ATAAGCATGACGACCTATGAT SEC61A1 29927 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 3 127786281 127786281 + synonymous_variant Silent SNP C C T TCGA-FG-A60J-01 TCGA-FG-A60J-10 Untested Somatic Phase_I WXS none Illumina GAIIx 111 59 ENST00000243253.3:c.993C>T p.Gly331= p.G331= ENST00000243253 NM_013336.3 331 ggC/ggT 0 0.483 CTTCTGGGGGCCCAGCACGTG PIK3R4 30849 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 3 130463923 130463923 + missense_variant Missense_Mutation SNP T T C TCGA-FG-A60J-01 TCGA-FG-A60J-10 Untested Somatic Phase_I WXS none Illumina GAIIx 42 18 ENST00000356763.3:c.140A>G p.Glu47Gly p.E47G ENST00000356763 NM_014602.2 47 gAa/gGa 0 0.408 GACCAGGCCTTCTCGGTGCTT SMIM43 132332 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 4 122681459 122681459 + missense_variant Missense_Mutation SNP T T A TCGA-FG-A60J-01 TCGA-FG-A60J-10 Untested Somatic Phase_I WXS none Illumina GAIIx 31 16 ENST00000337677.5:c.383A>T p.Lys128Met p.K128M ENST00000337677 NM_152399.2 128 aAg/aTg 0 0.403 tcagacaatcttgcagatagc HOXA7 3204 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 7 27196035 27196035 + missense_variant Missense_Mutation SNP C C T TCGA-FG-A60J-01 TCGA-FG-A60J-10 Untested Somatic Phase_I WXS none Illumina GAIIx 160 25 ENST00000242159.3:c.130G>A p.Ala44Thr p.A44T ENST00000242159 NM_006896.3 44 Gcc/Acc 0 0.607 AAGGCGCCGGCGCCCGCCCCG LETM2 137994 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 8 38262000 38262000 + synonymous_variant Silent SNP G G A TCGA-FG-A60J-01 TCGA-FG-A60J-10 Untested Somatic Phase_I WXS none Illumina GAIIx 67 11 ENST00000523983.2:c.1053G>A p.Pro351= p.P351= ENST00000523983 351 ccG/ccA 0 0.557 AGCCCAAGCCGATTGAGATAC XKR4 114786 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 8 56436610 56436610 + missense_variant Missense_Mutation SNP T T C TCGA-FG-A60J-01 TCGA-FG-A60J-10 Untested Somatic Phase_I WXS none Illumina GAIIx 73 37 ENST00000327381.6:c.1777T>C p.Ser593Pro p.S593P ENST00000327381 NM_052898.1 593 Tca/Cca 0 0.488 GATTGAAGAATCAGTCATTAA FAM154A 158297 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 9 18928550 18928550 + missense_variant Missense_Mutation SNP C C T TCGA-FG-A60J-01 TCGA-FG-A60J-10 Untested Somatic Phase_I WXS none Illumina GAIIx 68 52 ENST00000380534.4:c.925G>A p.Ala309Thr p.A309T ENST00000380534 NM_153707.2 309 Gcc/Acc 0 0.547 GTGTAATGGGCCTGCACTGTT ZNF81 347344 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 47774744 47774744 + synonymous_variant Silent SNP T T C TCGA-FG-A60J-01 TCGA-FG-A60J-10 Untested Somatic Phase_I WXS none Illumina GAIIx 85 9 ENST00000376954.1:c.699T>C p.Tyr233= p.Y233= ENST00000376954 233 taT/taC 0 0.363 ACTCTTCTTATAGTCACCACG GRIPAP1 56850 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 48831681 48831681 + synonymous_variant Silent SNP C C G TCGA-FG-A60J-01 TCGA-FG-A60J-10 Untested Somatic Phase_I WXS none Illumina GAIIx 40 22 ENST00000376441.1:c.2319G>C p.Leu773= p.L773= ENST00000376441 NM_020137.3 773 ctG/ctC 0 0.607 GGACGCTGCCCAGCCCGCTGC RGAG4 340526 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 71350423 71350423 + missense_variant Missense_Mutation SNP C C T TCGA-FG-A60J-01 TCGA-FG-A60J-10 Untested Somatic Phase_I WXS none Illumina GAIIx 129 66 ENST00000545866.1:c.968G>A p.Arg323Gln p.R323Q ENST00000545866 NM_001024455.3 323 cGa/cAa 0 0.493 GATGATATTTCGAACTCCAGG CSTF2 1478 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 100077401 100077401 + missense_variant Missense_Mutation SNP A A T TCGA-FG-A60J-01 TCGA-FG-A60J-10 Untested Somatic Phase_I WXS none Illumina GAIIx 48 21 ENST00000372972.2:c.299A>T p.Glu100Val p.E100V ENST00000372972 NM_001325.2 100 gAg/gTg 0 0.418 AACAAAGAAGAGCTGAAGAGT DRP2 1821 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 100490939 100490939 + missense_variant Missense_Mutation SNP G G A TCGA-FG-A60J-01 TCGA-FG-A60J-10 Untested Somatic Phase_I WXS none Illumina GAIIx 211 103 ENST00000395209.3:c.208G>A p.Ala70Thr p.A70T ENST00000395209 NM_001939.2 70 Gcc/Acc 0 0.517 GTCTGTTGGTGCCTCTGGACC SERPINA7 6906 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 105280487 105280487 + missense_variant Missense_Mutation SNP A A C TCGA-FG-A60J-01 TCGA-FG-A60J-10 Untested Somatic Phase_I WXS none Illumina GAIIx 116 60 ENST00000327674.4:c.563T>G p.Leu188Arg p.L188R ENST00000327674 188 cTa/cGa 0 0.413 GTCTTGAATTAGACCCACAAC DOCK11 139818 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 117773444 117773444 + missense_variant Missense_Mutation SNP T T A TCGA-FG-A60J-01 TCGA-FG-A60J-10 Untested Somatic Phase_I WXS none Illumina GAIIx 103 17 ENST00000276202.7:c.4048T>A p.Ser1350Thr p.S1350T ENST00000276202 NM_144658.3 1350 Tcg/Acg 0 0.413 AGACCGAAAATCGCAAACCAT GPR112 139378 hgsc.bcm.edu;broad.mit.edu GRCh37 X 135428469 135428469 + synonymous_variant Silent SNP G G C TCGA-FG-A60J-01 TCGA-FG-A60J-10 Untested Somatic Phase_I WXS none Illumina GAIIx 251 22 ENST00000394143.1:c.2604G>C p.Leu868= p.L868= ENST00000394143 NM_153834.3 868 ctG/ctC 0 0.398 CAACAATGCTGGAAGTGACAG NAA10 8260 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 153195616 153195616 + missense_variant Missense_Mutation SNP T T C TCGA-FG-A60J-01 TCGA-FG-A60J-10 Untested Somatic Phase_I WXS none Illumina GAIIx 89 74 ENST00000464845.1:c.532A>G p.Asn178Asp p.N178D ENST00000464845 NM_003491.3 178 Aac/Gac 0 0.627 TCCACCTTGTTCTCGATGGCA TAZ 6901 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 153640435 153640435 + missense_variant Missense_Mutation SNP A A T TCGA-FG-A60J-01 TCGA-FG-A60J-10 Untested Somatic Phase_I WXS none Illumina GAIIx 16 17 ENST00000299328.5:c.122A>T p.His41Leu p.H41L ENST00000299328 NM_000116.3 41 cAc/cTc 0 0.677 TACATGAACCACCTGACCGTG LATS2 26524 broad.mit.edu;ucsc.edu GRCh37 13 21562142 21562142 + missense_variant Missense_Mutation SNP G G A TCGA-FG-A60J-01 TCGA-FG-A60J-10 Untested Somatic Phase_I WXS none Illumina GAIIx 107 18 ENST00000382592.4:c.1777C>T p.Arg593Cys p.R593C ENST00000382592 NM_014572.2 593 Cgc/Tgc 0 0.512 CTCTTGATGCGTGACTCTCTC OGT 8473 broad.mit.edu;ucsc.edu GRCh37 X 70776956 70776956 + splice_donor_variant Splice_Site SNP G G T TCGA-FG-A60J-01 TCGA-FG-A60J-10 Untested Somatic Phase_I WXS none Illumina GAIIx 33 4 ENST00000373719.3:c.1320+1G>T p.X440_splice ENST00000373719 NM_181673.2 0 0.368 CATTCATAAGGTACTACTGTT CPZ 8532 broad.mit.edu;ucsc.edu GRCh37 4 8603122 8603122 + missense_variant Missense_Mutation SNP G G A TCGA-FG-A60J-01 TCGA-FG-A60J-10 Untested Somatic Phase_I WXS none Illumina GAIIx 10 5 ENST00000360986.4:c.394G>A p.Ala132Thr p.A132T ENST00000360986 NM_001014447.2 132 Gcc/Acc 0 0.677 CTGCCAGCCCGCCTTCGACGC SVIL 6840 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 10 29770516 29770516 + missense_variant Missense_Mutation SNP G G T TCGA-DB-5278-01 TCGA-DB-5278-10 Untested Somatic Phase_I WXS none Illumina GAIIx 365 192 ENST00000375398.2:c.5097C>A p.His1699Gln p.H1699Q ENST00000375398 1699 caC/caA 0 0.463 GGAATACCTTGTGCTGGGCAA SLC7A9 11136 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 19 33355655 33355655 + missense_variant Missense_Mutation SNP T T G TCGA-DB-5278-01 TCGA-DB-5278-10 Untested Somatic Phase_I WXS none Illumina GAIIx 64 83 ENST00000023064.4:c.115A>C p.Ile39Leu p.I39L ENST00000023064 NM_014270.4 39 Atc/Ctc 0 0.622 GTGCCCACGATGATGGAGATG CIC 23152 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 19 42791743 42791743 + missense_variant Missense_Mutation SNP T T G TCGA-DB-5278-01 TCGA-DB-5278-10 Untested Somatic Phase_I WXS none Illumina GAIIx 38 39 ENST00000575354.2:c.629T>G p.Phe210Cys p.F210C ENST00000575354 NM_015125.3 210 tTc/tGc 0 0.627 TTCATGATCTTCAGCAAGCGG RAB3GAP2 25782 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 220387224 220387224 + missense_variant Missense_Mutation SNP C C T TCGA-DB-5278-01 TCGA-DB-5278-10 Untested Somatic Phase_I WXS none Illumina GAIIx 58 25 ENST00000358951.2:c.278G>A p.Arg93Gln p.R93Q ENST00000358951 NM_012414.3 93 cGa/cAa 0 0.363 TTTTTGCTCTCGAGCTATCAC IDH1 3417 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T rs121913500 TCGA-DB-5278-01 TCGA-DB-5278-10 Untested Somatic Phase_I WXS none Illumina GAIIx 72 46 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 0.393 ATAAGCATGACGACCTATGAT GIMAP6 474344 broad.mit.edu;ucsc.edu GRCh37 7 150325310 150325310 + missense_variant Missense_Mutation SNP C C T rs138521615 byFrequency TCGA-DB-5278-01 TCGA-DB-5278-10 Untested Somatic Phase_I WXS none Illumina GAIIx 84 36 ENST00000328902.5:c.376G>A p.Val126Met p.V126M ENST00000328902 NM_024711.5 126 Gtg/Atg 0 0.622 ACCAGGAGCACGGCGTGGGGC CIC 23152 broad.mit.edu GRCh37 19 42799060 42799060 + missense_variant Missense_Mutation SNP G G A TCGA-DB-5278-01 TCGA-DB-5278-10 Untested Somatic Phase_I WXS none Illumina GAIIx 46 4 ENST00000575354.2:c.4544G>A p.Arg1515His p.R1515H ENST00000575354 NM_015125.3 1515 cGc/cAc 0 0.632 CGTGAGGTGCGCCAGAAGATC CTSG 1511 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 14 25043508 25043508 + synonymous_variant Silent SNP G G A TCGA-DU-6404-01 TCGA-DU-6404-10 Untested Somatic Phase_I WXS none Illumina GAIIx 20 19 ENST00000216336.2:c.537C>T p.Tyr179= p.Y179= ENST00000216336 NM_001911.2 179 taC/taT 0 0.627 TTCGGGGGTCGTAGGAACCGA FPR1 2357 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 19 52250087 52250087 + missense_variant Missense_Mutation SNP C C T rs145808420 TCGA-DU-6404-01 TCGA-DU-6404-10 Untested Somatic Phase_I WXS none Illumina GAIIx 24 18 ENST00000595042.1:c.161G>A p.Arg54Gln p.R54Q ENST00000595042 NM_001193306.1 54 cGg/cAg 0 0.527 GTGTGTCATCCGGAATCCAGC FMNL2 114793 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 153473700 153473700 + synonymous_variant Silent SNP C C T TCGA-DU-6404-01 TCGA-DU-6404-10 Untested Somatic Phase_I WXS none Illumina GAIIx 28 18 ENST00000288670.9:c.1308C>T p.Val436= p.V436= ENST00000288670 NM_052905.3 436 gtC/gtT 0 0.473 AGCTGGATGTCGTTCGGGTAA ACOX3 8310 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 4 8396382 8396382 + stop_gained Nonsense_Mutation SNP G G A rs142042116 TCGA-DU-6404-01 TCGA-DU-6404-10 Untested Somatic Phase_I WXS none Illumina GAIIx 10 17 ENST00000356406.5:c.1144C>T p.Arg382Ter p.R382* ENST00000356406 NM_003501.2 382 Cga/Tga 0 0.542 GCAAGTCCTCGCTGGAGCTCC SPP1 6696 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 4 88901213 88901213 + missense_variant Missense_Mutation SNP C C T TCGA-DU-6404-01 TCGA-DU-6404-10 Untested Somatic Phase_I WXS none Illumina GAIIx 65 26 ENST00000395080.3:c.109C>T p.Pro37Ser p.P37S ENST00000395080 NM_001040058.1 37 Cca/Tca 0 0.363 CAACAAATACCCAGATGCTGT TRO 7216 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 54953051 54953051 + missense_variant Missense_Mutation SNP C C T TCGA-DU-6404-01 TCGA-DU-6404-10 Untested Somatic Phase_I WXS none Illumina GAIIx 83 55 ENST00000173898.7:c.1693C>T p.Arg565Cys p.R565C ENST00000173898 NM_001039705.2 565 Cgc/Tgc 0 0.577 GTTGGGGCTGCGCCCTGGGTA GDPD2 54857 hgsc.bcm.edu;broad.mit.edu GRCh37 X 69652187 69652187 + missense_variant Missense_Mutation SNP C C A TCGA-DU-6404-01 TCGA-DU-6404-10 Untested Somatic Phase_I WXS none Illumina GAIIx 148 12 ENST00000453994.2:c.1491C>A p.Asn497Lys p.N497K ENST00000453994 NM_001171192.1 497 aaC/aaA 0 0.527 TCTCGGTGAACCTATTTGTAG TRBV11-1 28582 broad.mit.edu;ucsc.edu GRCh37 7 142224222 142224222 + missense_variant Missense_Mutation SNP C C A TCGA-DU-6404-01 TCGA-DU-6404-10 Untested Somatic Phase_I WXS none Illumina GAIIx 32 20 ENST00000390367.3:c.46G>T p.Ala16Ser p.A16S ENST00000390367 16 Gca/Tca 0 0.498 GACACACCTGCCCCCAGGAGA G6PD 2539 broad.mit.edu;ucsc.edu GRCh37 X 153761826 153761826 + missense_variant Missense_Mutation SNP C C T TCGA-DU-6404-01 TCGA-DU-6404-10 Untested Somatic Phase_I WXS none Illumina GAIIx 34 4 ENST00000393562.2:c.919G>A p.Ala307Thr p.A307T ENST00000393562 NM_000402.3 307 Gcc/Acc 0 0.637 TTGGTGGAGGCGGGCTTCTCC SLC25A19 60386 broad.mit.edu;ucsc.edu GRCh37 17 73282427 73282427 + synonymous_variant Silent SNP G G A TCGA-DU-6404-01 TCGA-DU-6404-10 Untested Somatic Phase_I WXS none Illumina GAIIx 80 40 ENST00000402418.3:c.246C>T p.His82= p.H82= ENST00000402418 82 caC/caT 0 0.592 GAGCTGGGACGTGTCCTTTCC ATG5 9474 broad.mit.edu;ucsc.edu GRCh37 6 106764059 106764059 + stop_gained Nonsense_Mutation SNP G G A TCGA-DU-6404-01 TCGA-DU-6404-10 Untested Somatic Phase_I WXS none Illumina GAIIx 72 43 ENST00000369076.3:c.25C>T p.Arg9Ter p.R9* ENST00000369076 NM_004849.2 9 Cga/Tga 0 0.368 CACACATCTCGAAGCACATCT KLHL13 90293 broad.mit.edu;ucsc.edu GRCh37 X 117043975 117043975 + missense_variant Missense_Mutation SNP C C T TCGA-DU-6404-01 TCGA-DU-6404-10 Untested Somatic Phase_I WXS none Illumina GAIIx 120 20 ENST00000539496.1:c.664G>A p.Val222Ile p.V222I ENST00000539496 NM_001168299.1 222 Gtc/Atc 0 0.423 TTCTTCAAGACGAAACTGTTA KALRN 8997 broad.mit.edu;ucsc.edu GRCh37 3 124053129 124053129 + missense_variant Missense_Mutation SNP A A C TCGA-DU-6404-01 TCGA-DU-6404-10 Untested Somatic Phase_I WXS none Illumina GAIIx 75 38 ENST00000240874.3:c.1428A>C p.Lys476Asn p.K476N ENST00000240874 NM_003947.4 476 aaA/aaC 0 0.572 AGGATGGCAAAGCACTACTTG MAGI3 260425 broad.mit.edu;ucsc.edu GRCh37 1 114123223 114123223 + missense_variant Missense_Mutation SNP G G A TCGA-DU-6404-01 TCGA-DU-6404-10 Untested Somatic Phase_I WXS none Illumina GAIIx 77 20 ENST00000307546.9:c.493G>A p.Val165Ile p.V165I ENST00000307546 NM_001142782.1 165 Gtt/Att 0 0.393 TTTCATTTCCGTTGAACAGTT PWWP2B 170394 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 10 134218474 134218474 + missense_variant Missense_Mutation SNP G G A TCGA-QH-A65V-01 TCGA-QH-A65V-10 Untested Somatic Phase_I WXS none Illumina GAIIx 23 14 ENST00000305233.5:c.470G>A p.Arg157His p.R157H ENST00000305233 NM_138499.3 157 cGc/cAc 0 0.726 CGTCTGTCCCGCAACCGCGAC OR5AS1 219447 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 11 55798589 55798589 + missense_variant Missense_Mutation SNP G G T TCGA-QH-A65V-01 TCGA-QH-A65V-10 Untested Somatic Phase_I WXS none Illumina GAIIx 115 67 ENST00000313555.1:c.695G>T p.Gly232Val p.G232V ENST00000313555 NM_001001921.1 232 gGt/gTt 0 0.453 AAGTCCTCAGGTGGCAGAAGC ZC3H13 23091 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 13 46619598 46619598 + synonymous_variant Silent SNP A A G TCGA-QH-A65V-01 TCGA-QH-A65V-10 Untested Somatic Phase_I WXS none Illumina GAIIx 107 53 ENST00000282007.3:c.45T>C p.Thr15= p.T15= ENST00000282007 NM_015070.3 15 acT/acC 0 0.413 TATCAGATATAGTCTTGGTAT C15orf43 145645 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 15 45248953 45248953 + missense_variant Missense_Mutation SNP G G A TCGA-QH-A65V-01 TCGA-QH-A65V-10 Untested Somatic Phase_I WXS none Illumina GAIIx 87 33 ENST00000340827.3:c.37G>A p.Val13Ile p.V13I ENST00000340827 NM_152448.2 13 Gtt/Att 0 0.582 TTGCGGCAGCGTTAGCCAGGA LONP2 83752 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 16 48296697 48296697 + missense_variant Missense_Mutation SNP A A C TCGA-QH-A65V-01 TCGA-QH-A65V-10 Untested Somatic Phase_I WXS none Illumina GAIIx 21 9 ENST00000285737.4:c.896A>C p.Lys299Thr p.K299T ENST00000285737 NM_031490.2 299 aAa/aCa 0 0.348 AGACTCAAAAAAATGCCTCAG PSME3 10197 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 40990763 40990763 + stop_gained Nonsense_Mutation SNP C C T TCGA-QH-A65V-01 TCGA-QH-A65V-10 Untested Somatic Phase_I WXS none Illumina GAIIx 55 31 ENST00000293362.3:c.460C>T p.Gln154Ter p.Q154* ENST00000293362 NM_176863.2 154 Cag/Tag 0 0.463 AATGTGGGTACAGCTCCTGAT KCNAB2 8514 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 6155592 6155592 + missense_variant,splice_region_variant Missense_Mutation SNP G G T TCGA-QH-A65V-01 TCGA-QH-A65V-10 Untested Somatic Phase_I WXS none Illumina GAIIx 42 48 ENST00000378083.3:c.856G>T p.Val286Leu p.V286L ENST00000378083 NM_001199862.1 286 Gtg/Ttg 0 0.632 CTCTTCAGGAGTGGGCGCCAT CD40 958 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 20 44751286 44751286 + synonymous_variant Silent SNP A A G TCGA-QH-A65V-01 TCGA-QH-A65V-10 Untested Somatic Phase_I WXS none Illumina GAIIx 87 41 ENST00000372285.3:c.294A>G p.Glu98= p.E98= ENST00000372285 NM_001250.4 98 gaA/gaG 0 0.607 GCACCTCAGAAACAGACACCA NCKAP1 10787 hgsc.bcm.edu;broad.mit.edu GRCh37 2 183866755 183866755 + missense_variant Missense_Mutation SNP G G A TCGA-QH-A65V-01 TCGA-QH-A65V-10 Untested Somatic Phase_I WXS none Illumina GAIIx 80 8 ENST00000360982.2:c.547C>T p.Arg183Cys p.R183C ENST00000360982 NM_013436.4 183 Cgc/Tgc 0 0.363 TGGCCAAGGCGTGGGTATTCT ZC3H15 55854 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 187371527 187371527 + missense_variant Missense_Mutation SNP C C G TCGA-QH-A65V-01 TCGA-QH-A65V-10 Untested Somatic Phase_I WXS none Illumina GAIIx 67 24 ENST00000337859.6:c.1054C>G p.Leu352Val p.L352V ENST00000337859 NM_018471.2 352 Ctt/Gtt 0 0.348 TGTAGCCAGTCTTGAAAGATT COL5A2 1290 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 189898826 189898826 + synonymous_variant Silent SNP G G A rs142895373 TCGA-QH-A65V-01 TCGA-QH-A65V-10 Untested Somatic Phase_I WXS none Illumina GAIIx 56 24 ENST00000374866.3:c.4470C>T p.Gly1490= p.G1490= ENST00000374866 NM_000393.3 1490 ggC/ggT 0 0.473 CAATTTCAACGCCGAATTCCT IDH1 3417 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T rs121913500 TCGA-QH-A65V-01 TCGA-QH-A65V-10 Untested Somatic Phase_I WXS none Illumina GAIIx 47 23 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 0.393 ATAAGCATGACGACCTATGAT SCAND3 114821 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 6 28540332 28540332 + missense_variant Missense_Mutation SNP A A G TCGA-QH-A65V-01 TCGA-QH-A65V-10 Untested Somatic Phase_I WXS none Illumina GAIIx 42 20 ENST00000452236.2:c.3334T>C p.Phe1112Leu p.F1112L ENST00000452236 NM_052923.1 1112 Ttt/Ctt 0 0.353 agatcattaaaaatactgaag PCLO 27445 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 7 82578793 82578793 + missense_variant,splice_region_variant Missense_Mutation SNP G G A TCGA-QH-A65V-01 TCGA-QH-A65V-10 Untested Somatic Phase_I WXS none Illumina GAIIx 171 68 ENST00000333891.9:c.11111C>T p.Thr3704Met p.T3704M ENST00000333891 NM_033026.5 3704 aCg/aTg 0 0.463 CACTCTTACCGTATAGCCCTC SND1 27044 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 7 127631024 127631024 + missense_variant Missense_Mutation SNP G G A TCGA-QH-A65V-01 TCGA-QH-A65V-10 Untested Somatic Phase_I WXS none Illumina GAIIx 29 13 ENST00000354725.3:c.1694G>A p.Arg565Gln p.R565Q ENST00000354725 NM_014390.2 565 cGa/cAa 0 0.542 AGAGGAGCCCGAAACCTCCCA TNC 3371 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 9 117848575 117848575 + missense_variant Missense_Mutation SNP G G A TCGA-QH-A65V-01 TCGA-QH-A65V-10 Untested Somatic Phase_I WXS none Illumina GAIIx 201 92 ENST00000350763.4:c.1435C>T p.Arg479Cys p.R479C ENST00000350763 NM_002160.3 479 Cgc/Tgc 0 0.582 TTCACACAGCGGCCGTGCTGG MID1IP1 58526 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 38664318 38664318 + missense_variant Missense_Mutation SNP A A T TCGA-QH-A65V-01 TCGA-QH-A65V-10 Untested Somatic Phase_I WXS none Illumina GAIIx 53 32 ENST00000336949.6:c.119A>T p.Asp40Val p.D40V ENST00000336949 NM_021242.4 40 gAc/gTc 0 0.632 TTGCTGCGCGACGTGCCCCTG NOTCH2 4853 broad.mit.edu;ucsc.edu GRCh37 1 120491184 120491184 + missense_variant Missense_Mutation SNP G G A TCGA-QH-A65V-01 TCGA-QH-A65V-10 Untested Somatic Phase_I WXS none Illumina GAIIx 33 29 ENST00000256646.2:c.2605C>T p.Arg869Trp p.R869W ENST00000256646 NM_024408.3 869 Cgg/Tgg 0 0.512 ATGGTACACCGCTGACCTAGG UNC13D 201294 broad.mit.edu;ucsc.edu GRCh37 17 73826535 73826535 + missense_variant Missense_Mutation SNP G G A TCGA-QH-A65V-01 TCGA-QH-A65V-10 Untested Somatic Phase_I WXS none Illumina GAIIx 9 5 ENST00000207549.4:c.2738C>T p.Ala913Val p.A913V ENST00000207549 NM_199242.2 913 gCt/gTt 0 0.682 GACTGTCACAGCCCCCAGCTC TRPV6 55503 broad.mit.edu;ucsc.edu GRCh37 7 142571891 142571891 + missense_variant Missense_Mutation SNP A A G TCGA-QH-A65V-01 TCGA-QH-A65V-10 Untested Somatic Phase_I WXS none Illumina GAIIx 37 5 ENST00000359396.3:c.1457T>C p.Ile486Thr p.I486T ENST00000359396 NM_018646.4 486 aTt/aCt 0 0.547 GTCGCCAAAAATCATCTAGAA HYLS1 219844 broad.mit.edu;ucsc.edu GRCh37 11 125770123 125770123 + missense_variant Missense_Mutation SNP T T C TCGA-QH-A65V-01 TCGA-QH-A65V-10 Untested Somatic Phase_I WXS none Illumina GAIIx 45 28 ENST00000425380.2:c.860T>C p.Val287Ala p.V287A ENST00000425380 NM_001134793.1 287 gTc/gCc 0 0.403 GCAAATGGTGTCATACCCAGG STAG3L4 64940 broad.mit.edu;ucsc.edu GRCh37 7 66771046 66771046 + non_coding_transcript_exon_variant RNA SNP T T G TCGA-QH-A65V-01 TCGA-QH-A65V-10 Untested Somatic Phase_I WXS none Illumina GAIIx 84 52 ENST00000416602.2:n.338T>G *113* ENST00000416602 0 0.388 TGTTAACTTTTTCATCTGATC CIC 23152 broad.mit.edu;ucsc.edu GRCh37 19 42799059 42799059 + missense_variant Missense_Mutation SNP C C T TCGA-QH-A65V-01 TCGA-QH-A65V-10 Untested Somatic Phase_I WXS none Illumina GAIIx 51 23 ENST00000575354.2:c.4543C>T p.Arg1515Cys p.R1515C ENST00000575354 NM_015125.3 1515 Cgc/Tgc 0 0.632 CCGTGAGGTGCGCCAGAAGAT XG 7499 broad.mit.edu;hgsc.bcm.edu GRCh37 X 2670333 2670333 + frameshift_variant Frame_Shift_Del DEL A A - TCGA-QH-A65V-01 TCGA-QH-A65V-10 Untested Somatic Phase_I WXS none Illumina GAIIx 127 47 ENST00000419513.2:c.18delA p.Leu7PhefsTer10 p.L7Ffs*10 ENST00000419513 NM_001141919.1 6 ggA/gg 0 0.532 GCTGGTGGGGACTTCCCTGTC OR10A4 283297 hgsc.bcm.edu;broad.mit.edu GRCh37 11 6898019 6898019 + missense_variant Missense_Mutation SNP C C G TCGA-DU-8163-01 TCGA-DU-8163-10 Untested Somatic Phase_I WXS none Illumina GAIIx 143 10 ENST00000379829.2:c.141C>G p.Ile47Met p.I47M ENST00000379829 NM_207186.2 47 atC/atG 0 0.453 TCCTCATCATCCTGGTCACTA GLI1 2735 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 12 57861814 57861814 + missense_variant Missense_Mutation SNP G G A TCGA-DU-8163-01 TCGA-DU-8163-10 Untested Somatic Phase_I WXS none Illumina GAIIx 114 12 ENST00000228682.2:c.1115G>A p.Arg372His p.R372H ENST00000228682 NM_005269.2 372 cGc/cAc 0 0.542 TGCACCAAACGCTATACAGAT TJP1 7082 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 15 30001004 30001004 + stop_gained Nonsense_Mutation SNP G G A TCGA-DU-8163-01 TCGA-DU-8163-10 Untested Somatic Phase_I WXS none Illumina GAIIx 202 82 ENST00000346128.6:c.4609C>T p.Arg1537Ter p.R1537* ENST00000346128 NM_175610.2 1537 Cga/Tga 0 0.403 TCAAATGGTCGGGCAGAACTT GCNT3 9245 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 15 59911328 59911328 + synonymous_variant Silent SNP G G A rs139760962 TCGA-DU-8163-01 TCGA-DU-8163-10 Untested Somatic Phase_I WXS none Illumina GAIIx 173 25 ENST00000396065.1:c.891G>A p.Ala297= p.A297= ENST00000396065 NM_004751.2 297 gcG/gcA 0 0.408 CAGGGAATGCGTACATTGTGG TP53 7157 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 7577120 7577120 + missense_variant Missense_Mutation SNP C C A rs28934576 by1000genomes TCGA-DU-8163-01 TCGA-DU-8163-10 Untested Somatic Phase_I WXS none Illumina GAIIx 11 15 ENST00000269305.4:c.818G>T p.Arg273Leu p.R273L ENST00000269305 NM_001126112.2 273 cGt/cTt 0 0.542 GGCACAAACACGCACCTCAAA MAPK7 5598 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 19283952 19283952 + missense_variant Missense_Mutation SNP C C G TCGA-DU-8163-01 TCGA-DU-8163-10 Untested Somatic Phase_I WXS none Illumina GAIIx 112 20 ENST00000308406.5:c.430C>G p.Leu144Val p.L144V ENST00000308406 NM_139033.2 144 Ctg/Gtg 0 0.582 GGAAAGCGACCTGCACCAGAT MAPK7 5598 hgsc.bcm.edu;broad.mit.edu GRCh37 17 19284535 19284535 + missense_variant Missense_Mutation SNP C C T TCGA-DU-8163-01 TCGA-DU-8163-10 Untested Somatic Phase_I WXS none Illumina GAIIx 81 6 ENST00000308406.5:c.1013C>T p.Ala338Val p.A338V ENST00000308406 NM_139033.2 338 gCa/gTa 0 0.622 CGCATCTCAGCAGCTGCTGCC MYO18A 399687 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 27434129 27434129 + missense_variant Missense_Mutation SNP C C T TCGA-DU-8163-01 TCGA-DU-8163-10 Untested Somatic Phase_I WXS none Illumina GAIIx 150 52 ENST00000527372.1:c.3410G>A p.Gly1137Glu p.G1137E ENST00000527372 NM_078471.3 1137 gGg/gAg 0 0.612 GTAGTTACGCCCGTGTTTCTT CLCNKA 1187 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 16352610 16352610 + synonymous_variant Silent SNP A A G TCGA-DU-8163-01 TCGA-DU-8163-10 Untested Somatic Phase_I WXS none Illumina GAIIx 433 67 ENST00000331433.4:c.366A>G p.Gly122= p.G122= ENST00000331433 122 ggA/ggG 0 0.552 AAGGTTCTGGAATCCCGGAGC CAPN2 824 hgsc.bcm.edu;broad.mit.edu GRCh37 1 223900426 223900426 + synonymous_variant Silent SNP C C G TCGA-DU-8163-01 TCGA-DU-8163-10 Untested Somatic Phase_I WXS none Illumina GAIIx 20 11 ENST00000295006.5:c.84C>G p.Leu28= p.L28= ENST00000295006 NM_001748.4 28 ctC/ctG 0 0.716 TCAAGTACCTCAACCAGGACT OR2T12 127064 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 248458716 248458716 + synonymous_variant Silent SNP C C T TCGA-DU-8163-01 TCGA-DU-8163-10 Untested Somatic Phase_I WXS none Illumina GAIIx 41 8 ENST00000317996.1:c.165G>A p.Arg55= p.R55= ENST00000317996 NM_001004692.1 55 agG/agA 0 0.527 AGTACATGGGCCTGTGGAGCC DYNC2LI1 51626 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 44028017 44028017 + missense_variant Missense_Mutation SNP G G A rs141895414 TCGA-DU-8163-01 TCGA-DU-8163-10 Untested Somatic Phase_I WXS none Illumina GAIIx 48 6 ENST00000260605.8:c.692G>A p.Arg231His p.R231H ENST00000260605 NM_001193464.1 231 cGt/cAt 0 0.313 CTAAAAATACGTGGAGTTATC IDH1 3417 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T rs121913500 TCGA-DU-8163-01 TCGA-DU-8163-10 Untested Somatic Phase_I WXS none Illumina GAIIx 79 26 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 0.393 ATAAGCATGACGACCTATGAT XIRP1 165904 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 3 39227182 39227182 + missense_variant Missense_Mutation SNP G G A TCGA-DU-8163-01 TCGA-DU-8163-10 Untested Somatic Phase_I WXS none Illumina GAIIx 27 10 ENST00000340369.3:c.3755C>T p.Ala1252Val p.A1252V ENST00000340369 NM_194293.2 1252 gCc/gTc 0 0.622 AGGAACAAAGGCATTATGGGG RUNX2 860 hgsc.bcm.edu;broad.mit.edu GRCh37 6 45390466 45390466 + synonymous_variant Silent SNP A A G TCGA-DU-8163-01 TCGA-DU-8163-10 Untested Somatic Phase_I WXS none Illumina GAIIx 36 4 ENST00000371438.1:c.195A>G p.Gln65= p.Q65= ENST00000371438 NM_001024630.3 65 caA/caG 0 0.731 agcagcagcaacagcagcagc ATRX 546 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 76814188 76814188 + stop_gained Nonsense_Mutation SNP A A C TCGA-DU-8163-01 TCGA-DU-8163-10 Untested Somatic Phase_I WXS none Illumina GAIIx 45 10 ENST00000373344.5:c.6456T>G p.Tyr2152Ter p.Y2152* ENST00000373344 NM_000489.3 2152 taT/taG 0 0.338 GTCCAAAGCGATAAACTCTGA ATRX 546 hgsc.bcm.edu;ucsc.edu GRCh37 X 76944328 76944328 + stop_gained Nonsense_Mutation SNP G G A TCGA-DU-8163-01 TCGA-DU-8163-10 Untested Somatic Phase_I WXS none Illumina GAIIx 37 10 ENST00000373344.5:c.577C>T p.Gln193Ter p.Q193* ENST00000373344 NM_000489.3 193 Caa/Taa 0 0.383 ATAAGAACTTGCAATGAAGGG PCDH15 65217 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 10 55581631 55581631 + missense_variant Missense_Mutation SNP G G C TCGA-DH-A66B-01 TCGA-DH-A66B-10 Untested Somatic Phase_I WXS none Illumina GAIIx 125 23 ENST00000361849.3:c.5861C>G p.Ser1954Cys p.S1954C ENST00000361849 NM_001142768.1 1954 tCt/tGt 0 0.363 CAGTGAAGTAGATTGACTGTG OR6Q1 219952 hgsc.bcm.edu;broad.mit.edu GRCh37 11 57798711 57798711 + missense_variant Missense_Mutation SNP T T C TCGA-DH-A66B-01 TCGA-DH-A66B-10 Untested Somatic Phase_I WXS none Illumina GAIIx 149 10 ENST00000302622.3:c.287T>C p.Ile96Thr p.I96T ENST00000302622 NM_001005186.2 96 aTc/aCc 0 0.483 GGCAAGAATATCTCTTATGCT COQ5 84274 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 12 120947837 120947837 + missense_variant Missense_Mutation SNP C C T TCGA-DH-A66B-01 TCGA-DH-A66B-10 Untested Somatic Phase_I WXS none Illumina GAIIx 45 15 ENST00000288532.6:c.664G>A p.Val222Ile p.V222I ENST00000288532 NM_032314.3 222 Gtc/Atc 0 0.433 ATGTGTGTGACATTCCGGATC CEBPE 1053 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 14 23588124 23588124 + synonymous_variant Silent SNP G G A rs141320203 TCGA-DH-A66B-01 TCGA-DH-A66B-10 Untested Somatic Phase_I WXS none Illumina GAIIx 163 28 ENST00000206513.5:c.177C>T p.Ala59= p.A59= ENST00000206513 NM_001805.3 59 gcC/gcT 0 0.647 CTGGCTTCACGGCAAAGAGAT OTX2 5015 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 14 57268721 57268721 + missense_variant Missense_Mutation SNP C C A TCGA-DH-A66B-01 TCGA-DH-A66B-10 Untested Somatic Phase_I WXS none Illumina GAIIx 83 22 ENST00000339475.5:c.626G>T p.Cys209Phe p.C209F ENST00000339475 NM_001270524.1 209 tGt/tTt 0 0.522 ATATGATCCACAGTCCATGCC PLIN1 5346 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 15 90212791 90212791 + missense_variant Missense_Mutation SNP C C T TCGA-DH-A66B-01 TCGA-DH-A66B-10 Untested Somatic Phase_I WXS none Illumina GAIIx 71 23 ENST00000300055.5:c.711G>A p.Met237Ile p.M237I ENST00000300055 NM_002666.4 237 atG/atA 0 0.642 GGGCCCGGGCCATGGTCTGCA WDR24 84219 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 16 739166 739166 + missense_variant Missense_Mutation SNP A A T TCGA-DH-A66B-01 TCGA-DH-A66B-10 Untested Somatic Phase_I WXS none Illumina GAIIx 102 44 ENST00000293883.4:c.475T>A p.Phe159Ile p.F159I ENST00000293883 NM_032259.2 159 Ttc/Atc 0 0.632 TCACCCGAGAAGGTGCTGACA CYP4F12 66002 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 19 15807863 15807863 + missense_variant Missense_Mutation SNP C C T TCGA-DH-A66B-01 TCGA-DH-A66B-10 Untested Somatic Phase_I WXS none Illumina GAIIx 120 24 ENST00000550308.1:c.1543C>T p.Arg515Trp p.R515W ENST00000550308 NM_023944.3 515 Cgg/Tgg 0 0.567 GCTTTGGCTGCGGGTGGAGCC ZNF676 163223 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 19 22363763 22363763 + synonymous_variant Silent SNP G G A TCGA-DH-A66B-01 TCGA-DH-A66B-10 Untested Somatic Phase_I WXS none Illumina GAIIx 66 30 ENST00000397121.2:c.756C>T p.Pro252= p.P252= ENST00000397121 NM_001001411.2 252 ccC/ccT 0 0.373 CACATTTGTAGGGTTTCTCTC ZNF644 84146 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 91405999 91405999 + synonymous_variant Silent SNP G G T rs144274015 byFrequency TCGA-DH-A66B-01 TCGA-DH-A66B-10 Untested Somatic Phase_I WXS none Illumina GAIIx 30 10 ENST00000370440.1:c.912C>A p.Thr304= p.T304= ENST00000370440 304 acC/acA 0 0.343 AGCAATCCTCGGTATAACGAG INSRR 3645 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 156815851 156815851 + missense_variant Missense_Mutation SNP C C T TCGA-DH-A66B-01 TCGA-DH-A66B-10 Untested Somatic Phase_I WXS none Illumina GAIIx 85 18 ENST00000368195.3:c.1871G>A p.Arg624His p.R624H ENST00000368195 NM_014215.2 624 cGc/cAc 0 0.622 TGGCTTCCAGCGCACCAGGAG FCRL2 79368 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 157738222 157738222 + missense_variant Missense_Mutation SNP C C T TCGA-DH-A66B-01 TCGA-DH-A66B-10 Untested Somatic Phase_I WXS none Illumina GAIIx 104 19 ENST00000361516.3:c.865G>A p.Val289Met p.V289M ENST00000361516 NM_030764.3 289 Gtg/Atg 0 0.478 GGGATATTCACCACCTTGCTC ABL2 27 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 179084144 179084144 + missense_variant Missense_Mutation SNP T T A TCGA-DH-A66B-01 TCGA-DH-A66B-10 Untested Somatic Phase_I WXS none Illumina GAIIx 105 20 ENST00000502732.1:c.1430A>T p.Glu477Val p.E477V ENST00000502732 NM_001168237.1 477 gAa/gTa 0 0.378 GGTAGCAATTTCCCACAACAA RD3 343035 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 211652456 211652456 + synonymous_variant Silent SNP G G A TCGA-DH-A66B-01 TCGA-DH-A66B-10 Untested Somatic Phase_I WXS none Illumina GAIIx 29 6 ENST00000367002.4:c.510C>T p.Ser170= p.S170= ENST00000367002 NM_001164688.1 170 tcC/tcT 0 0.716 CCACGTCCTCGGAGATGGTCC CHRM3 1131 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 240071128 240071128 + missense_variant Missense_Mutation SNP C C T TCGA-DH-A66B-01 TCGA-DH-A66B-10 Untested Somatic Phase_I WXS none Illumina GAIIx 39 20 ENST00000255380.4:c.377C>T p.Thr126Met p.T126M ENST00000255380 NM_000740.2 126 aCg/aTg 0 0.468 AATCTGTTTACGACCTACATC CHAF1B 8208 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 21 37775114 37775114 + missense_variant Missense_Mutation SNP G G C TCGA-DH-A66B-01 TCGA-DH-A66B-10 Untested Somatic Phase_I WXS none Illumina GAIIx 265 55 ENST00000314103.5:c.722G>C p.Ser241Thr p.S241T ENST00000314103 NM_005441.2 241 aGt/aCt 0 0.443 CGTAGACTGAGTTTCACTCCC MORC2 22880 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 22 31330834 31330834 + synonymous_variant Silent SNP A A C TCGA-DH-A66B-01 TCGA-DH-A66B-10 Untested Somatic Phase_I WXS none Illumina GAIIx 220 70 ENST00000215862.4:c.1941T>G p.Val647= p.V647= ENST00000215862 NM_014941.1 647 gtT/gtG 0 0.552 TGGGAGAAGGAACCTCCCGAG NLRC4 58484 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 32449596 32449596 + synonymous_variant Silent SNP A A G TCGA-DH-A66B-01 TCGA-DH-A66B-10 Untested Somatic Phase_I WXS none Illumina GAIIx 75 47 ENST00000404025.2:c.3021T>C p.Phe1007= p.F1007= ENST00000404025 1007 ttT/ttC 0 0.378 CATCATCATCAAATTGCCACC IFIH1 64135 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 163133214 163133214 + missense_variant Missense_Mutation SNP A A C TCGA-DH-A66B-01 TCGA-DH-A66B-10 Untested Somatic Phase_I WXS none Illumina GAIIx 70 12 ENST00000263642.2:c.2287T>G p.Phe763Val p.F763V ENST00000263642 NM_022168.3 763 Ttc/Gtc 0 0.398 ATGGGTTTGAACTCACTGCTG IDH1 3417 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T rs121913500 TCGA-DH-A66B-01 TCGA-DH-A66B-10 Untested Somatic Phase_I WXS none Illumina GAIIx 27 22 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 0.393 ATAAGCATGACGACCTATGAT CCDC13 152206 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 3 42750573 42750573 + missense_variant Missense_Mutation SNP G G A TCGA-DH-A66B-01 TCGA-DH-A66B-10 Untested Somatic Phase_I WXS none Illumina GAIIx 85 21 ENST00000310232.6:c.2047C>T p.Arg683Trp p.R683W ENST00000310232 NM_144719.3 683 Cgg/Tgg 0 0.592 TCCTTTCCCCGCAGGGCACTG TRAIP 10293 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 3 49867117 49867117 + missense_variant Missense_Mutation SNP C C T TCGA-DH-A66B-01 TCGA-DH-A66B-10 Untested Somatic Phase_I WXS none Illumina GAIIx 51 29 ENST00000331456.2:c.1169G>A p.Arg390Gln p.R390Q ENST00000331456 NM_005879.2 390 cGg/cAg 0 0.587 GATGGCATTCCGGACAAAAAT WDR17 116966 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 4 177032847 177032847 + missense_variant Missense_Mutation SNP T T C TCGA-DH-A66B-01 TCGA-DH-A66B-10 Untested Somatic Phase_I WXS none Illumina GAIIx 39 16 ENST00000280190.4:c.188T>C p.Ile63Thr p.I63T ENST00000280190 63 aTt/aCt 0 0.343 GCTATCTATATTTATCAGGTA ITPR3 3710 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 6 33632727 33632727 + missense_variant Missense_Mutation SNP A A G TCGA-DH-A66B-01 TCGA-DH-A66B-10 Untested Somatic Phase_I WXS none Illumina GAIIx 48 25 ENST00000374316.5:c.1229A>G p.Glu410Gly p.E410G ENST00000374316 410 gAg/gGg 0 0.667 ATCGAGGAGGAGCGGCCCATC PKHD1 5314 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 6 51768522 51768522 + missense_variant Missense_Mutation SNP C C G TCGA-DH-A66B-01 TCGA-DH-A66B-10 Untested Somatic Phase_I WXS none Illumina GAIIx 45 18 ENST00000371117.3:c.6869G>C p.Trp2290Ser p.W2290S ENST00000371117 NM_138694.3 2290 tGg/tCg 0 0.393 ATGTCCTGACCAGTCTAATGT TNS3 64759 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 7 47407972 47407972 + synonymous_variant Silent SNP G G A TCGA-DH-A66B-01 TCGA-DH-A66B-10 Untested Somatic Phase_I WXS none Illumina GAIIx 258 74 ENST00000398879.1:c.2271C>T p.Thr757= p.T757= ENST00000398879 757 acC/acT 0 0.632 CTTGCCGCCCGGTGGCCCTGC COBL 23242 hgsc.bcm.edu;ucsc.edu GRCh37 7 51093066 51093066 + missense_variant Missense_Mutation SNP C C T TCGA-DH-A66B-01 TCGA-DH-A66B-10 Untested Somatic Phase_I WXS none Illumina GAIIx 69 14 ENST00000265136.7:c.3508G>A p.Ala1170Thr p.A1170T ENST00000265136 NM_015198.3 1170 Gca/Aca 0 0.517 GCAGAGGATGCCACCTGGCAA CYP3A4 1576 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 7 99364768 99364768 + missense_variant Missense_Mutation SNP C C T TCGA-DH-A66B-01 TCGA-DH-A66B-10 Untested Somatic Phase_I WXS none Illumina GAIIx 51 15 ENST00000336411.2:c.784G>A p.Glu262Lys p.E262K ENST00000336411 NM_001202855.2 262 Gaa/Aaa 0 0.308 TGTGTATCTTCGAGGCGACTT PTPRZ1 5803 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 7 121693973 121693973 + stop_gained Nonsense_Mutation SNP C C T TCGA-DH-A66B-01 TCGA-DH-A66B-10 Untested Somatic Phase_I WXS none Illumina GAIIx 82 51 ENST00000393386.2:c.6262C>T p.Gln2088Ter p.Q2088* ENST00000393386 NM_001206838.1 2088 Cag/Tag 0 0.403 GGGCTATTACCAGAGCAATGA CRISPLD1 83690 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 8 75932115 75932115 + missense_variant Missense_Mutation SNP T T C TCGA-DH-A66B-01 TCGA-DH-A66B-10 Untested Somatic Phase_I WXS none Illumina GAIIx 23 24 ENST00000262207.4:c.1138T>C p.Ser380Pro p.S380P ENST00000262207 NM_031461.5 380 Tct/Cct 0 0.333 CAAATATCAGTCTGCTAATTC SPATA31C1 441452 hgsc.bcm.edu;broad.mit.edu GRCh37 9 90535986 90535986 + non_coding_transcript_exon_variant RNA SNP G G A TCGA-DH-A66B-01 TCGA-DH-A66B-10 Untested Somatic Phase_I WXS none Illumina GAIIx 356 66 ENST00000420021.2:n.1461G>A *487* ENST00000420021 0 0.517 GCCCTGCGTCGCAGAATAAAG RGS3 5998 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 9 116224037 116224037 + missense_variant Missense_Mutation SNP G G A TCGA-DH-A66B-01 TCGA-DH-A66B-10 Untested Somatic Phase_I WXS none Illumina GAIIx 125 26 ENST00000374140.2:c.131G>A p.Arg44His p.R44H ENST00000374140 NM_144488.5 44 cGt/cAt 0 0.537 GGATCTCACCGTCCTGAGTGT KIF2B 84643 broad.mit.edu;ucsc.edu GRCh37 17 51902246 51902246 + missense_variant Missense_Mutation SNP C C A TCGA-DH-A66B-01 TCGA-DH-A66B-10 Untested Somatic Phase_I WXS none Illumina GAIIx 109 24 ENST00000268919.4:c.1852C>A p.Gln618Lys p.Q618K ENST00000268919 NM_032559.4 618 Caa/Aaa 0 0.443 GGGATCTAGCCAATGGCTGGA MAP2K5 5607 broad.mit.edu;ucsc.edu GRCh37 15 67878228 67878228 + missense_variant,splice_region_variant Missense_Mutation SNP C C T TCGA-DH-A66B-01 TCGA-DH-A66B-10 Untested Somatic Phase_I WXS none Illumina GAIIx 78 9 ENST00000178640.5:c.323C>T p.Ala108Val p.A108V ENST00000178640 NM_145160.2 108 gCc/gTc 0 0.373 ACTGTTTCAGCCTGCAAGCCT APIP 51074 broad.mit.edu;ucsc.edu GRCh37 11 34909891 34909891 + missense_variant Missense_Mutation SNP T T C TCGA-DH-A66B-01 TCGA-DH-A66B-10 Untested Somatic Phase_I WXS none Illumina GAIIx 74 22 ENST00000395787.3:c.410A>G p.His137Arg p.H137R ENST00000395787 NM_015957.2 137 cAt/cGt 0 0.373 CATCTCTTGATGTGTAATTTT PCDHB4 56131 broad.mit.edu;ucsc.edu GRCh37 5 140502918 140502918 + synonymous_variant Silent SNP C C T TCGA-DH-A66B-01 TCGA-DH-A66B-10 Untested Somatic Phase_I WXS none Illumina GAIIx 117 115 ENST00000194152.1:c.1338C>T p.Asn446= p.N446= ENST00000194152 NM_018938.2 446 aaC/aaT 0 0.602 TCAATGACAACGCCCCCGCCT NOTCH1 4851 broad.mit.edu;ucsc.edu GRCh37 9 139412302 139412302 + missense_variant Missense_Mutation SNP C C A TCGA-DH-A66B-01 TCGA-DH-A66B-10 Untested Somatic Phase_I WXS none Illumina GAIIx 83 24 ENST00000277541.6:c.1343G>T p.Arg448Leu p.R448L ENST00000277541 NM_017617.3 448 cGa/cTa 0 0.647 GATCTCGCATCGGGGGCCCGT EIF4G3 8672 broad.mit.edu;hgsc.bcm.edu GRCh37 1 21183987 21183987 + frameshift_variant Frame_Shift_Del DEL A A - TCGA-DH-A66B-01 TCGA-DH-A66B-10 Untested Somatic Phase_I WXS none Illumina GAIIx 222 51 ENST00000602326.1:c.3098delT p.Val1033AlafsTer27 p.V1033Afs*27 ENST00000602326 NM_001198802.1 1033 gTc/gc 0 0.463 CACTCTCTGGACACCTGCAGG ATF2 1386 broad.mit.edu;hgsc.bcm.edu GRCh37 2 175957831 175957833 + inframe_deletion In_Frame_Del DEL CTC CTC - TCGA-DH-A66B-01 TCGA-DH-A66B-10 Untested Somatic Phase_I WXS none Illumina GAIIx 95 38 ENST00000264110.2:c.1141_1143delGAG p.Glu381del p.E381del ENST00000264110 NM_001256091.1 381 GAG/- 0 0.35 CAGCTTTCTTCTCTAAAGACTGA SCRIB 23513 broad.mit.edu;hgsc.bcm.edu GRCh37 8 144886879 144886882 + frameshift_variant Frame_Shift_Del DEL GGGA GGGA - TCGA-DH-A66B-01 TCGA-DH-A66B-10 Untested Somatic Phase_I WXS none Illumina GAIIx 30 10 ENST00000356994.2:c.2865_2868delTCCC p.Pro956AlafsTer18 p.P956Afs*18 ENST00000356994 NM_182706.4 955 ccTCCC/cc 0 0.696 GCAGAGGGCTGGGAGGAAGAGGGC MALAT1 378938 broad.mit.edu;hgsc.bcm.edu GRCh37 11 65270886 65270887 + non_coding_transcript_exon_variant RNA INS - - TA TCGA-DH-A66B-01 TCGA-DH-A66B-10 Untested Somatic Phase_I WXS none Illumina GAIIx 53 12 ENST00000534336.1:n.5655_5656dupTA *1885* ENST00000534336 0 0.371 ATTTGCATCTTTAAATAATTTC RXFP2 122042 broad.mit.edu;hgsc.bcm.edu GRCh37 13 32371470 32371471 + frameshift_variant Frame_Shift_Del DEL TC TC - TCGA-DH-A66B-01 TCGA-DH-A66B-10 Untested Somatic Phase_I WXS none Illumina GAIIx 52 45 ENST00000298386.2:c.1920_1921delCT p.Phe642TyrfsTer5 p.F642Yfs*5 ENST00000298386 NM_130806.3 640 tTC/t 0 0.396 GCAAATCGTTTCTTTTTTATAG DNAJA2 10294 broad.mit.edu;hgsc.bcm.edu GRCh37 16 46991039 46991040 + frameshift_variant Frame_Shift_Del DEL CT CT - TCGA-DH-A66B-01 TCGA-DH-A66B-10 Untested Somatic Phase_I WXS none Illumina GAIIx 304 156 ENST00000317089.5:c.1140_1141delAG p.Gly381LeufsTer8 p.G381Lfs*8 ENST00000317089 NM_005880.3 380 cgAGgc/cggc 0 0.465 CCTCCTGAGCCTCGAGTGCTAT TP53 7157 broad.mit.edu;hgsc.bcm.edu GRCh37 17 7576886 7576887 + frameshift_variant Frame_Shift_Ins INS - - T TCGA-DH-A66B-01 TCGA-DH-A66B-10 Untested Somatic Phase_I WXS none Illumina GAIIx 21 83 ENST00000269305.4:c.959dupA p.Lys321GlufsTer16 p.K321Efs*16 ENST00000269305 NM_001126112.2 320 aag/aaAg 0 0.46 CCAGTGGTTTCTTCTTTGGCTG ATRX 546 broad.mit.edu;hgsc.bcm.edu GRCh37 X 76938097 76938100 + frameshift_variant Frame_Shift_Del DEL TCTT TCTT - TCGA-DH-A66B-01 TCGA-DH-A66B-10 Untested Somatic Phase_I WXS none Illumina GAIIx 28 79 ENST00000373344.5:c.2648_2651delAAGA p.Gln883ArgfsTer21 p.Q883Rfs*21 ENST00000373344 NM_000489.3 883 cAAGAg/cg 0 0.407 AGTCTCTCTCTCTTGTTTTCTTTC LRRC18 474354 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 10 50122058 50122058 + missense_variant Missense_Mutation SNP C C T TCGA-DU-7302-01 TCGA-DU-7302-10 Untested Somatic Phase_I WXS none Illumina GAIIx 54 25 ENST00000374160.3:c.143G>A p.Arg48His p.R48H ENST00000374160 NM_001006939.3 48 cGc/cAc 0 0.507 GTCACTAAGGCGCAGAATACA CDH23 64072 hgsc.bcm.edu;broad.mit.edu GRCh37 10 73544798 73544798 + missense_variant Missense_Mutation SNP C C T TCGA-DU-7302-01 TCGA-DU-7302-10 Untested Somatic Phase_I WXS none Illumina GAIIx 124 11 ENST00000224721.6:c.5668C>T p.Arg1890Cys p.R1890C ENST00000224721 NM_022124.5 1890 Cgc/Tgc 0 0.602 CTGCAATGCACGCCTCACCTT CCDC89 220388 hgsc.bcm.edu;broad.mit.edu GRCh37 11 85397064 85397064 + missense_variant Missense_Mutation SNP G G A TCGA-DU-7302-01 TCGA-DU-7302-10 Untested Somatic Phase_I WXS none Illumina GAIIx 62 5 ENST00000316398.3:c.110C>T p.Thr37Met p.T37M ENST00000316398 NM_152723.1 37 aCg/aTg 0 0.552 CTTAAACTCCGTCTCCTCTTC KCNJ1 3758 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 11 128710111 128710111 + missense_variant Missense_Mutation SNP C C T TCGA-DU-7302-01 TCGA-DU-7302-10 Untested Somatic Phase_I WXS none Illumina GAIIx 106 11 ENST00000392664.2:c.85G>A p.Val29Ile p.V29I ENST00000392664 NM_000220.4 29 Gtc/Atc 0 0.408 AAGCGAGTGACGACCCATTTC VWF 7450 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 12 6128787 6128787 + missense_variant Missense_Mutation SNP G G A rs61749370 TCGA-DU-7302-01 TCGA-DU-7302-10 Untested Somatic Phase_I WXS none Illumina GAIIx 51 26 ENST00000261405.5:c.3797C>T p.Pro1266Leu p.P1266L ENST00000261405 NM_000552.3 1266 cCg/cTg 0 0.612 ATCGTGCAACGGCGGTTCCGA GATC 283459 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 12 120894951 120894951 + synonymous_variant Silent SNP C C T TCGA-DU-7302-01 TCGA-DU-7302-10 Untested Somatic Phase_I WXS none Illumina GAIIx 37 19 ENST00000551765.1:c.327C>T p.Arg109= p.R109= ENST00000551765 NM_176818.2 109 cgC/cgT 0 0.478 ACTCCCATCGCGTCGTGGAGG TGM7 116179 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 15 43584939 43584939 + missense_variant Missense_Mutation SNP G G A TCGA-DU-7302-01 TCGA-DU-7302-10 Untested Somatic Phase_I WXS none Illumina GAIIx 97 70 ENST00000452443.2:c.407C>T p.Thr136Ile p.T136I ENST00000452443 NM_052955.2 136 aCt/aTt 0 0.478 TAGGATGAAAGTTCCCAGCGG ACSBG1 23205 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 15 78475123 78475123 + stop_gained Nonsense_Mutation SNP C C T TCGA-DU-7302-01 TCGA-DU-7302-10 Untested Somatic Phase_I WXS none Illumina GAIIx 40 24 ENST00000258873.4:c.668G>A p.Trp223Ter p.W223* ENST00000258873 NM_001199377.1 223 tGg/tAg 0 0.463 CAACTGTTTCCAGATCTGCAT TMEM8A 58986 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 16 427459 427459 + synonymous_variant Silent SNP G G A TCGA-DU-7302-01 TCGA-DU-7302-10 Untested Somatic Phase_I WXS none Illumina GAIIx 29 14 ENST00000431232.2:c.426C>T p.Ser142= p.S142= ENST00000431232 NM_021259.2 142 tcC/tcT 0 0.677 AAACGTTGACGGAGGCATTGC CES3 23491 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 16 66997813 66997813 + missense_variant Missense_Mutation SNP C C T rs148620443 byFrequency TCGA-DU-7302-01 TCGA-DU-7302-10 Untested Somatic Phase_I WXS none Illumina GAIIx 77 75 ENST00000303334.4:c.535C>T p.Arg179Cys p.R179C ENST00000303334 NM_024922.5 179 Cgc/Tgc 0 0.607 AGTCCAGTACCGCCTTGGGGT RFXANK 8625 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 19 19307810 19307810 + missense_variant Missense_Mutation SNP C C T TCGA-DU-7302-01 TCGA-DU-7302-10 Untested Somatic Phase_I WXS none Illumina GAIIx 241 31 ENST00000303088.4:c.226C>T p.Arg76Trp p.R76W ENST00000303088 NM_003721.3 76 Cgg/Tgg 0 0.617 TCTCACCAACCGGCAGCGAGG FASLG 356 hgsc.bcm.edu;broad.mit.edu GRCh37 1 172628634 172628634 + missense_variant Missense_Mutation SNP G G T TCGA-DU-7302-01 TCGA-DU-7302-10 Untested Somatic Phase_I WXS none Illumina GAIIx 54 5 ENST00000367721.2:c.293G>T p.Gly98Val p.G98V ENST00000367721 NM_000639.1 98 gGc/gTc 0 0.572 GTAGGATTGGGCCTGGGGATG ADCY3 109 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 25062839 25062839 + missense_variant Missense_Mutation SNP C C T TCGA-DU-7302-01 TCGA-DU-7302-10 Untested Somatic Phase_I WXS none Illumina GAIIx 132 18 ENST00000260600.5:c.1258G>A p.Val420Met p.V420M ENST00000260600 NM_004036.3 420 Gtg/Atg 0 0.642 CCCCCCAGCACGGTGCCCGTG TRIM54 57159 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 27522276 27522276 + missense_variant Missense_Mutation SNP C C T TCGA-DU-7302-01 TCGA-DU-7302-10 Untested Somatic Phase_I WXS none Illumina GAIIx 28 16 ENST00000296098.4:c.505C>T p.Arg169Cys p.R169C ENST00000296098 NM_032546.3 169 Cgc/Tgc 0 0.522 CATTTACAAACGCCAGAAGGT IDH1 3417 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T rs121913500 TCGA-DU-7302-01 TCGA-DU-7302-10 Untested Somatic Phase_I WXS none Illumina GAIIx 72 41 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 0.393 ATAAGCATGACGACCTATGAT FLNB 2317 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 3 58095050 58095050 + splice_donor_variant Splice_Site SNP G G C TCGA-DU-7302-01 TCGA-DU-7302-10 Untested Somatic Phase_I WXS none Illumina GAIIx 13 8 ENST00000490882.1:c.2199+1G>C p.X733_splice ENST00000490882 NM_001164317.1 0 0.552 CCCCTACAGGGTAGGTTGTGA SUMF2 25870 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 7 56145816 56145816 + stop_gained Nonsense_Mutation SNP A A T TCGA-DU-7302-01 TCGA-DU-7302-10 Untested Somatic Phase_I WXS none Illumina GAIIx 156 17 ENST00000342190.6:c.670A>T p.Lys224Ter p.K224* ENST00000342190 NM_001130069.2 224 Aaa/Taa 0 0.532 CAAGGGAGACAAAGCTGAGGA KLHL15 80311 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 24006740 24006740 + synonymous_variant Silent SNP T T C TCGA-DU-7302-01 TCGA-DU-7302-10 Untested Somatic Phase_I WXS none Illumina GAIIx 135 103 ENST00000328046.8:c.1113A>G p.Glu371= p.E371= ENST00000328046 NM_030624.2 371 gaA/gaG 0 0.458 CTACAGCAAATTCAGAGCGTG SOX3 6658 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 139586763 139586763 + missense_variant Missense_Mutation SNP G G A TCGA-DU-7302-01 TCGA-DU-7302-10 Untested Somatic Phase_I WXS none Illumina GAIIx 43 39 ENST00000370536.2:c.463C>T p.Arg155Cys p.R155C ENST00000370536 NM_005634.2 155 Cgc/Tgc 0 0.632 GCCATTTTGCGCCGCTGCCCG FLNA 2316 hgsc.bcm.edu;broad.mit.edu GRCh37 X 153593776 153593776 + missense_variant Missense_Mutation SNP A A T TCGA-DU-7302-01 TCGA-DU-7302-10 Untested Somatic Phase_I WXS none Illumina GAIIx 103 9 ENST00000369850.3:c.1508T>A p.Phe503Tyr p.F503Y ENST00000369850 NM_001110556.1 503 tTc/tAc 0 0.672 GTACACCTTGAAGTCAGCTGT APOB 338 broad.mit.edu;ucsc.edu GRCh37 2 21227213 21227213 + synonymous_variant Silent SNP G G A TCGA-DU-7302-01 TCGA-DU-7302-10 Untested Somatic Phase_I WXS none Illumina GAIIx 40 38 ENST00000233242.1:c.12015C>T p.Ala4005= p.A4005= ENST00000233242 NM_000384.2 4005 gcC/gcT 0 0.507 CGGTGCCTACGGCTGGGGAGG KRT16P2 400578 broad.mit.edu;ucsc.edu GRCh37 17 16734855 16734855 + non_coding_transcript_exon_variant,non_coding_transcript_variant RNA SNP C C T rs688852 by1000genomes TCGA-DU-7302-01 TCGA-DU-7302-10 Untested Somatic Phase_I WXS none Illumina GAIIx 53 6 ENST00000399048.2:n.720G>A *240* ENST00000399048 0 0.632 CACAGTCTGCCGCAGGGCCAG MYH2 4620 broad.mit.edu;ucsc.edu GRCh37 17 10432336 10432336 + missense_variant Missense_Mutation SNP C C T TCGA-DU-7302-01 TCGA-DU-7302-10 Untested Somatic Phase_I WXS none Illumina GAIIx 74 33 ENST00000245503.5:c.3415G>A p.Glu1139Lys p.E1139K ENST00000245503 NM_017534.5 1139 Gag/Aag 0 0.582 CGCTGCTTCTCTGCTTTGGCC ZNF292 23036 broad.mit.edu;hgsc.bcm.edu GRCh37 6 87966376 87966377 + frameshift_variant Frame_Shift_Del DEL CT CT - TCGA-DU-7302-01 TCGA-DU-7302-10 Untested Somatic Phase_I WXS none Illumina GAIIx 28 11 ENST00000369577.3:c.3032_3033delTC p.Leu1011GlnfsTer4 p.L1011Qfs*4 ENST00000369577 NM_015021.1 1010 aCT/a 0 0.356 AATTCAGAAACTCTCAAAATAG SPDYE1 285955 broad.mit.edu;hgsc.bcm.edu GRCh37 7 44042300 44042301 + frameshift_variant Frame_Shift_Del DEL CT CT - TCGA-DU-7302-01 TCGA-DU-7302-10 Untested Somatic Phase_I WXS none Illumina GAIIx 50 19 ENST00000258704.3:c.371_372delCT p.Pro124ArgfsTer3 p.P124Rfs*3 ENST00000258704 NM_175064.2 124 cCT/c 0 0.614 GTGCTCGCCCCTGAGCCTGAGG GNAI1 2770 broad.mit.edu;hgsc.bcm.edu GRCh37 7 79846804 79846805 + frameshift_variant Frame_Shift_Del DEL TT TT - TCGA-DU-7302-01 TCGA-DU-7302-10 Untested Somatic Phase_I WXS none Illumina GAIIx 28 13 ENST00000351004.3:c.1062_1063delTT p.Phe354LeufsTer15 p.F354Lfs*15 ENST00000351004 NM_002069.5 354 TTt/t 0 0.342 TTGTGGTCTCTTTTAAGTTTTG NOTCH1 4851 broad.mit.edu;hgsc.bcm.edu GRCh37 9 139413070 139413072 + inframe_deletion In_Frame_Del DEL AGA AGA - TCGA-DU-7302-01 TCGA-DU-7302-10 Untested Somatic Phase_I WXS none Illumina GAIIx 20 10 ENST00000277541.6:c.1070_1072delTCT p.Phe357del p.F357del ENST00000277541 NM_017617.3 357 tTCTac/tac 0 0.655 CACTCGCAGTAGAAGGAGGCCAC ANO9 338440 broad.mit.edu;hgsc.bcm.edu GRCh37 11 418481 418483 + inframe_deletion In_Frame_Del DEL TCT TCT - TCGA-DU-7302-01 TCGA-DU-7302-10 Untested Somatic Phase_I WXS none Illumina GAIIx 105 51 ENST00000332826.6:c.2237_2239delAGA p.Lys746del p.K746del ENST00000332826 NM_001012302.2 746 aAGAtg/atg 0 0.621 CCATGCCACATCTTCTCACGCAG CLUH 23277 broad.mit.edu;hgsc.bcm.edu GRCh37 17 2601759 2601761 + inframe_deletion In_Frame_Del DEL GAA GAA - TCGA-DU-7302-01 TCGA-DU-7302-10 Untested Somatic Phase_I WXS none Illumina GAIIx 48 11 ENST00000570628.2:c.1276_1278delTTC p.Phe426del p.F426del ENST00000570628 426 TTC/- 0 0.611 AGCCCAGGCTGAAGAAGATGTTG CIC 23152 broad.mit.edu;hgsc.bcm.edu GRCh37 19 42798099 42798100 + frameshift_variant Frame_Shift_Del DEL AG AG - TCGA-DU-7302-01 TCGA-DU-7302-10 Untested Somatic Phase_I WXS none Illumina GAIIx 73 64 ENST00000575354.2:c.4054_4055delGA p.Glu1352SerfsTer9 p.E1352Sfs*9 ENST00000575354 NM_015125.3 1351 tcAGaa/tcaa 0 0.678 GGGTCCTGTCAGAAGTGGACTT NKX2-2 4821 broad.mit.edu;hgsc.bcm.edu GRCh37 20 21492574 21492574 + frameshift_variant Frame_Shift_Del DEL T T - TCGA-DU-7302-01 TCGA-DU-7302-10 Untested Somatic Phase_I WXS none Illumina GAIIx 36 34 ENST00000377142.4:c.809delA p.Gln270ArgfsTer47 p.Q270Rfs*47 ENST00000377142 NM_002509.3 270 cAg/cg 0 0.706 CCAAGTCCACTGCTGGGCCTG BCOR 54880 broad.mit.edu;hgsc.bcm.edu GRCh37 X 39932365 39932366 + frameshift_variant Frame_Shift_Del DEL CT CT - TCGA-DU-7302-01 TCGA-DU-7302-10 Untested Somatic Phase_I WXS none Illumina GAIIx 131 53 ENST00000378444.4:c.2233_2234delAG p.Arg745GlufsTer6 p.R745Efs*6 ENST00000378444 NM_001123385.1 745 AGg/g 0 0.515 CCGGGATCTCCTCTCTGGTTTC FERMT3 83706 hgsc.bcm.edu;broad.mit.edu GRCh37 11 63988497 63988497 + missense_variant Missense_Mutation SNP C C T TCGA-FG-8182-01 TCGA-FG-8182-10 Untested Somatic Phase_I WXS none Illumina GAIIx 128 8 ENST00000279227.5:c.1567C>T p.Arg523Trp p.R523W ENST00000279227 NM_178443.2 523 Cgg/Tgg 0 0.652 GCTCACCCCACGGATCCTGGA EXPH5 23086 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 11 108381318 108381318 + missense_variant Missense_Mutation SNP C C T TCGA-FG-8182-01 TCGA-FG-8182-10 Untested Somatic Phase_I WXS none Illumina GAIIx 47 56 ENST00000265843.4:c.4916G>A p.Cys1639Tyr p.C1639Y ENST00000265843 NM_015065.2 1639 tGc/tAc 0 0.483 CAGTGGGTTGCACTCCACTGT LRIG3 121227 hgsc.bcm.edu;broad.mit.edu GRCh37 12 59276787 59276787 + synonymous_variant Silent SNP G G A TCGA-FG-8182-01 TCGA-FG-8182-10 Untested Somatic Phase_I WXS none Illumina GAIIx 70 4 ENST00000320743.3:c.1344C>T p.Cys448= p.C448= ENST00000320743 NM_153377.4 448 tgC/tgT 0 0.403 GCTGGCAATCGCACAAAAGGC TP53 7157 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 7574012 7574012 + stop_gained Nonsense_Mutation SNP C C A rs17882252 TCGA-FG-8182-01 TCGA-FG-8182-10 Untested Somatic Phase_I WXS none Illumina GAIIx 55 12 ENST00000269305.4:c.1015G>T p.Glu339Ter p.E339* ENST00000269305 NM_001126112.2 339 Gag/Tag 0 0.537 CGGAACATCTCGAAGCGCTCA TP53 7157 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 7579311 7579311 + splice_donor_variant Splice_Site SNP C C T rs68140816 TCGA-FG-8182-01 TCGA-FG-8182-10 Untested Somatic Phase_I WXS none Illumina GAIIx 67 56 ENST00000269305.4:c.375+1G>A p.X125_splice ENST00000269305 NM_001126112.2 0 0.532 GGGCAACTGACCGTGCAAGTC CWC25 54883 hgsc.bcm.edu;broad.mit.edu GRCh37 17 36958970 36958970 + synonymous_variant Silent SNP C C T TCGA-FG-8182-01 TCGA-FG-8182-10 Untested Somatic Phase_I WXS none Illumina GAIIx 114 9 ENST00000225428.5:c.1146G>A p.Arg382= p.R382= ENST00000225428 NM_017748.4 382 cgG/cgA 0 0.547 ACTTCCCATCCCGGGAGTCCA ERCC1 2067 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 19 45916941 45916941 + synonymous_variant Silent SNP A A T TCGA-FG-8182-01 TCGA-FG-8182-10 Untested Somatic Phase_I WXS none Illumina GAIIx 131 13 ENST00000013807.5:c.837T>A p.Pro279= p.P279= ENST00000013807 NM_202001.2 279 ccT/ccA 0 0.522 TTACTTTCTGAGGGCCCAGGC DNAJC6 9829 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 65858364 65858364 + synonymous_variant Silent SNP T T G TCGA-FG-8182-01 TCGA-FG-8182-10 Untested Somatic Phase_I WXS none Illumina GAIIx 56 7 ENST00000371069.4:c.1719T>G p.Ala573= p.A573= ENST00000371069 NM_001256864.1 573 gcT/gcG 0 0.582 CGCCAGCGGCTCCTCCCACCA C20orf26 26074 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 20 20123549 20123549 + missense_variant Missense_Mutation SNP A A T TCGA-FG-8182-01 TCGA-FG-8182-10 Untested Somatic Phase_I WXS none Illumina GAIIx 19 6 ENST00000245957.5:c.908A>T p.Glu303Val p.E303V ENST00000245957 NM_015585.3 303 gAg/gTg 0 0.488 ATAGTCGAGGAGTTGCAGGAA ADSL 158 hgsc.bcm.edu;broad.mit.edu GRCh37 22 40762494 40762494 + missense_variant Missense_Mutation SNP G G A TCGA-FG-8182-01 TCGA-FG-8182-10 Untested Somatic Phase_I WXS none Illumina GAIIx 55 5 ENST00000216194.7:c.1423G>A p.Val475Met p.V475M ENST00000216194 NM_000026.2 475 Gtg/Atg 0 0.358 ATATGAAAGCGTGATGAAGGT MYO3B 140469 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 171509614 171509614 + missense_variant Missense_Mutation SNP T T C TCGA-FG-8182-01 TCGA-FG-8182-10 Untested Somatic Phase_I WXS none Illumina GAIIx 71 8 ENST00000408978.4:c.4009T>C p.Ser1337Pro p.S1337P ENST00000408978 NM_138995.4 1337 Tct/Cct 0 0.418 AAAAGGAGACTCTTTTGCTCA IDH1 3417 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T rs121913500 TCGA-FG-8182-01 TCGA-FG-8182-10 Untested Somatic Phase_I WXS none Illumina GAIIx 64 34 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 0.393 ATAAGCATGACGACCTATGAT RPL37A 6168 hgsc.bcm.edu;broad.mit.edu GRCh37 2 217364056 217364056 + missense_variant Missense_Mutation SNP C C T TCGA-FG-8182-01 TCGA-FG-8182-10 Untested Somatic Phase_I WXS none Illumina GAIIx 86 8 ENST00000491306.1:c.67C>T p.Arg23Trp p.R23W ENST00000491306 NM_000998.4 23 Cgg/Tgg 0 0.502 GGCCTCCCTCCGGAAAATGGT COL6A3 1293 hgsc.bcm.edu;broad.mit.edu GRCh37 2 238277572 238277572 + missense_variant Missense_Mutation SNP A A G TCGA-FG-8182-01 TCGA-FG-8182-10 Untested Somatic Phase_I WXS none Illumina GAIIx 59 5 ENST00000295550.4:c.4534T>C p.Ser1512Pro p.S1512P ENST00000295550 NM_004369.3 1512 Tcc/Ccc 0 0.562 TTCAGTGGGGACCCCCCTCTG BRD8 10902 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 5 137501597 137501597 + missense_variant Missense_Mutation SNP T T C TCGA-FG-8182-01 TCGA-FG-8182-10 Untested Somatic Phase_I WXS none Illumina GAIIx 60 9 ENST00000254900.5:c.1198A>G p.Met400Val p.M400V ENST00000254900 NM_139199.1 400 Atg/Gtg 0 0.458 GCAATATCCATCTTCTCAGCC CD109 135228 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 6 74491008 74491008 + synonymous_variant Silent SNP T T C TCGA-FG-8182-01 TCGA-FG-8182-10 Untested Somatic Phase_I WXS none Illumina GAIIx 46 6 ENST00000287097.5:c.1929T>C p.Asp643= p.D643= ENST00000287097 643 gaT/gaC 0 0.323 TATTGACAGATGCAAACCTCA MDN1 23195 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 6 90397120 90397120 + missense_variant Missense_Mutation SNP C C T TCGA-FG-8182-01 TCGA-FG-8182-10 Untested Somatic Phase_I WXS none Illumina GAIIx 66 13 ENST00000369393.3:c.11393G>A p.Arg3798Gln p.R3798Q ENST00000369393 3798 cGg/cAg 0 0.403 AAGATGTTTCCGCAAAGACAA FBXL18 80028 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 7 5540405 5540405 + missense_variant Missense_Mutation SNP T T C TCGA-FG-8182-01 TCGA-FG-8182-10 Untested Somatic Phase_I WXS none Illumina GAIIx 88 19 ENST00000382368.3:c.1495A>G p.Met499Val p.M499V ENST00000382368 NM_024963.4 499 Atg/Gtg 0 0.672 TTGCGGGGCATGGCGGAGGAG CNTLN 54875 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 9 17236520 17236520 + synonymous_variant Silent SNP G G A TCGA-FG-8182-01 TCGA-FG-8182-10 Untested Somatic Phase_I WXS none Illumina GAIIx 49 11 ENST00000380647.3:c.783G>A p.Leu261= p.L261= ENST00000380647 261 ctG/ctA 0 0.368 TAAATGACCTGGAGAAATTGA VSIG4 11326 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 65253475 65253475 + missense_variant Missense_Mutation SNP G G A TCGA-FG-8182-01 TCGA-FG-8182-10 Untested Somatic Phase_I WXS none Illumina GAIIx 75 19 ENST00000374737.4:c.253C>T p.Arg85Cys p.R85C ENST00000374737 NM_001257403.1 85 Cgc/Tgc 0 0.547 ACATGCAGGCGGCCCTGGTAC UNC93A 54346 broad.mit.edu;ucsc.edu GRCh37 6 167728856 167728856 + synonymous_variant Silent SNP C C T TCGA-FG-8182-01 TCGA-FG-8182-10 Untested Somatic Phase_I WXS none Illumina GAIIx 360 30 ENST00000230256.3:c.1290C>T p.Cys430= p.C430= ENST00000230256 NM_018974.3 430 tgC/tgT 0 0.542 TTGTGGAGTGCGTGGAGTCCA IGFBP2 3485 broad.mit.edu;ucsc.edu GRCh37 2 217525369 217525369 + missense_variant Missense_Mutation SNP C C T TCGA-FG-8182-01 TCGA-FG-8182-10 Untested Somatic Phase_I WXS none Illumina GAIIx 63 11 ENST00000233809.4:c.532C>T p.Arg178Trp p.R178W ENST00000233809 NM_000597.2 178 Cgg/Tgg 0 0.612 CAGTGCTGGCCGGAAGCCCCT HIVEP2 3097 broad.mit.edu;ucsc.edu GRCh37 6 143095693 143095693 + synonymous_variant Silent SNP T T C TCGA-FG-8182-01 TCGA-FG-8182-10 Untested Somatic Phase_I WXS none Illumina GAIIx 207 29 ENST00000367603.2:c.183A>G p.Ala61= p.A61= ENST00000367603 NM_006734.3 61 gcA/gcG 0 0.498 CAAACAGTTGTGCTGATGCTG FLRT2 23768 broad.mit.edu;ucsc.edu GRCh37 14 86089274 86089274 + synonymous_variant Silent SNP C C T rs146568257 byFrequency TCGA-FG-8182-01 TCGA-FG-8182-10 Untested Somatic Phase_I WXS none Illumina GAIIx 96 45 ENST00000330753.4:c.1416C>T p.Ser472= p.S472= ENST00000330753 NM_013231.4 472 agC/agT 0 0.517 GCATAGTCAGCGGTGAGAAGC MUC16 94025 broad.mit.edu;ucsc.edu GRCh37 19 8987333 8987333 + splice_region_variant,synonymous_variant Splice_Region SNP G G A TCGA-FG-8182-01 TCGA-FG-8182-10 Untested Somatic Phase_I WXS none Illumina GAIIx 112 14 ENST00000397910.4:c.41754C>T p.Thr13918= p.T13918= ENST00000397910 NM_024690.2 13918 acC/acT 0 0.597 TGACCACCCCGGCTAGGGCAG TNFRSF9 3604 broad.mit.edu;ucsc.edu GRCh37 1 7998823 7998823 + missense_variant Missense_Mutation SNP C C T rs9657963 byFrequency TCGA-FG-8182-01 TCGA-FG-8182-10 Untested Somatic Phase_I WXS none Illumina GAIIx 157 17 ENST00000377507.3:c.166G>A p.Ala56Thr p.A56T ENST00000377507 NM_001561.5 56 Gca/Aca 0 0.408 TGTCCACCTGCGCTGGAGAAA ADAMTS9 56999 broad.mit.edu;ucsc.edu GRCh37 3 64526873 64526873 + missense_variant Missense_Mutation SNP C C T TCGA-FG-8182-01 TCGA-FG-8182-10 Untested Somatic Phase_I WXS none Illumina GAIIx 120 23 ENST00000498707.1:c.5419G>A p.Gly1807Arg p.G1807R ENST00000498707 NM_182920.1 1807 Ggg/Agg 0 0.473 CGCCGGCTCCCGTTATAGGGA ATRX 546 broad.mit.edu;hgsc.bcm.edu GRCh37 X 76890105 76890106 + frameshift_variant Frame_Shift_Ins INS - - CATA TCGA-FG-8182-01 TCGA-FG-8182-10 Untested Somatic Phase_I WXS none Illumina GAIIx 61 16 ENST00000373344.5:c.4785_4788dupTATG p.Gly1597TyrfsTer5 p.G1597Yfs*5 ENST00000373344 NM_000489.3 1596 -/TATG 0 0.371 TTACCAAGGCCCATACAGTGGG TCF12 6938 broad.mit.edu GRCh37 15 57565437 57565438 + stop_gained,frameshift_variant Nonsense_Mutation INS - - TTGAC TCGA-FG-8182-01 TCGA-FG-8182-10 Untested Somatic Phase_I WXS none Illumina GAIIx 51 9 ENST00000438423.2:c.1956_1957insTGACT p.Ser653Ter p.S653* ENST00000438423 NM_207037.1 652 ctt/ctTTGACt 0 0.441 GCAGTCATCCTTAGTCTAGAAC ATRX 546 broad.mit.edu GRCh37 X 76938654 76938655 + frameshift_variant Frame_Shift_Ins INS - - T TCGA-FG-8182-01 TCGA-FG-8182-10 Untested Somatic Phase_I WXS none Illumina GAIIx 64 9 ENST00000373344.5:c.2093dupA p.Asp699GlyfsTer2 p.D699Gfs*2 ENST00000373344 NM_000489.3 698 aag/aaAg 0 0.356 TACGCTTATCCTTTTTTCTCAC ATRX 546 broad.mit.edu GRCh37 X 76845302 76845302 + splice_donor_variant Splice_Site SNP A A G TCGA-FG-8182-01 TCGA-FG-8182-10 Untested Somatic Phase_I WXS none Illumina GAIIx 8 3 ENST00000373344.5:c.6217+2T>C p.X2073_splice ENST00000373344 NM_000489.3 0 0.328 TTTGTAGCTCACCTTTATAAA SLIT1 6585 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 10 98797514 98797514 + synonymous_variant Silent SNP G G A rs141130521 byFrequency TCGA-HW-A5KJ-01 TCGA-HW-A5KJ-10 Untested Somatic Phase_I WXS none Illumina GAIIx 29 23 ENST00000266058.4:c.2307C>T p.Asp769= p.D769= ENST00000266058 NM_003061.2 769 gaC/gaT 0 0.597 ACTGGTTCCCGTCCAAATAGC MS4A12 54860 hgsc.bcm.edu;broad.mit.edu GRCh37 11 60268575 60268575 + missense_variant Missense_Mutation SNP A A G TCGA-HW-A5KJ-01 TCGA-HW-A5KJ-10 Untested Somatic Phase_I WXS none Illumina GAIIx 181 11 ENST00000016913.4:c.334A>G p.Ile112Val p.I112V ENST00000016913 NM_017716.2 112 Ata/Gta 0 0.373 TTTGTGTTTAATATCCTTCTC C11orf82 220042 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 11 82643883 82643883 + synonymous_variant Silent SNP A A T TCGA-HW-A5KJ-01 TCGA-HW-A5KJ-10 Untested Somatic Phase_I WXS none Illumina GAIIx 24 17 ENST00000533655.1:c.1503A>T p.Gly501= p.G501= ENST00000533655 NM_145018.3 501 ggA/ggT 0 0.368 ACTGTAAAGGAAATCTAAGTC KDM4E 390245 hgsc.bcm.edu;broad.mit.edu GRCh37 11 94759050 94759050 + missense_variant Missense_Mutation SNP C C T TCGA-HW-A5KJ-01 TCGA-HW-A5KJ-10 Untested Somatic Phase_I WXS none Illumina GAIIx 9 11 ENST00000450979.2:c.329C>T p.Pro110Leu p.P110L ENST00000450979 NM_001161630.1 110 cCg/cTg 0 0.468 TATCAGACTCCGCCACACCAG RASSF9 9182 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 12 86199470 86199470 + synonymous_variant Silent SNP C C T TCGA-HW-A5KJ-01 TCGA-HW-A5KJ-10 Untested Somatic Phase_I WXS none Illumina GAIIx 141 14 ENST00000361228.3:c.318G>A p.Glu106= p.E106= ENST00000361228 NM_005447.3 106 gaG/gaA 0 0.448 TATTGGGCTGCTCATCTCCCC UHRF1BP1L 23074 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 12 100478361 100478361 + missense_variant Missense_Mutation SNP T T C TCGA-HW-A5KJ-01 TCGA-HW-A5KJ-10 Untested Somatic Phase_I WXS none Illumina GAIIx 59 29 ENST00000279907.7:c.1181A>G p.His394Arg p.H394R ENST00000279907 NM_015054.1 394 cAt/cGt 0 0.393 CTCAAATTCATGCAATAACTC BAHD1 22893 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 15 40751367 40751367 + missense_variant Missense_Mutation SNP G G A rs150307966 TCGA-HW-A5KJ-01 TCGA-HW-A5KJ-10 Untested Somatic Phase_I WXS none Illumina GAIIx 42 29 ENST00000416165.1:c.704G>A p.Arg235His p.R235H ENST00000416165 NM_014952.3 235 cGc/cAc 0 0.627 GTAGATGGGCGCTCCACTGAG CA5A 763 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 16 87938397 87938397 + missense_variant Missense_Mutation SNP C C T TCGA-HW-A5KJ-01 TCGA-HW-A5KJ-10 Untested Somatic Phase_I WXS none Illumina GAIIx 114 44 ENST00000309893.2:c.454G>A p.Ala152Thr p.A152T ENST00000309893 NM_001739.1 152 Gca/Aca 0 0.577 CAAACCTCTGCGGGGTACGCG KSR1 8844 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 25932772 25932772 + missense_variant Missense_Mutation SNP C C T TCGA-HW-A5KJ-01 TCGA-HW-A5KJ-10 Untested Somatic Phase_I WXS none Illumina GAIIx 26 19 ENST00000398988.3:c.1582C>T p.Arg528Trp p.R528W ENST00000398988 NM_014238.1 528 Cgg/Tgg 0 0.597 CCGGCAGACGCGGCATGAGAA UNC13A 23025 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 19 17752258 17752258 + missense_variant Missense_Mutation SNP C C A TCGA-HW-A5KJ-01 TCGA-HW-A5KJ-10 Untested Somatic Phase_I WXS none Illumina GAIIx 53 31 ENST00000519716.2:c.2580G>T p.Glu860Asp p.E860D ENST00000519716 NM_001080421.2 860 gaG/gaT 0 0.567 CGTCCACAATCTCCTGGGCTG ZNF614 80110 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 19 52519785 52519785 + missense_variant Missense_Mutation SNP G G A TCGA-HW-A5KJ-01 TCGA-HW-A5KJ-10 Untested Somatic Phase_I WXS none Illumina GAIIx 72 11 ENST00000270649.6:c.1066C>T p.Arg356Cys p.R356C ENST00000270649 NM_025040.3 356 Cgc/Tgc 0 0.428 ACAAGATAGCGCTTCATGGTG LRRC8B 23507 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 90049110 90049110 + missense_variant Missense_Mutation SNP C C T TCGA-HW-A5KJ-01 TCGA-HW-A5KJ-10 Untested Somatic Phase_I WXS none Illumina GAIIx 34 52 ENST00000330947.2:c.901C>T p.Arg301Cys p.R301C ENST00000330947 NM_001134476.1 301 Cgc/Tgc 0 0.383 AGGATATAAGCGCTACCAGTG MAVS 57506 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 20 3841977 3841977 + splice_acceptor_variant Splice_Site SNP A A G TCGA-HW-A5KJ-01 TCGA-HW-A5KJ-10 Untested Somatic Phase_I WXS none Illumina GAIIx 93 51 ENST00000428216.2:c.293-2A>G p.X98_splice ENST00000428216 NM_020746.4 0 0.602 TTTGTCCTCTAGGGACCTCGG ADAMTS1 9510 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 21 28210518 28210518 + missense_variant Missense_Mutation SNP T T A TCGA-HW-A5KJ-01 TCGA-HW-A5KJ-10 Untested Somatic Phase_I WXS none Illumina GAIIx 28 27 ENST00000284984.3:c.2284A>T p.Arg762Trp p.R762W ENST00000284984 NM_006988.3 762 Agg/Tgg 0 0.448 CCATTGTTCCTGGATCCCCTC ERG 2078 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 21 39774503 39774503 + missense_variant Missense_Mutation SNP G G A TCGA-HW-A5KJ-01 TCGA-HW-A5KJ-10 Untested Somatic Phase_I WXS none Illumina GAIIx 38 15 ENST00000288319.7:c.649C>T p.Arg217Trp p.R217W ENST00000288319 NM_182918.3 217 Cgg/Tgg 0 0.438 TGCATTAACCGTGGAGAGTTT ZNF280A 129025 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 22 22869694 22869694 + synonymous_variant Silent SNP C C T rs150360634 TCGA-HW-A5KJ-01 TCGA-HW-A5KJ-10 Untested Somatic Phase_I WXS none Illumina GAIIx 114 67 ENST00000302097.3:c.261G>A p.Ser87= p.S87= ENST00000302097 NM_080740.3 87 tcG/tcA 0 0.468 TTGCAGGCTGCGACACGTGAG SCN2A 6326 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 166245292 166245292 + missense_variant Missense_Mutation SNP C C A TCGA-HW-A5KJ-01 TCGA-HW-A5KJ-10 Untested Somatic Phase_I WXS none Illumina GAIIx 98 53 ENST00000357398.3:c.4976C>A p.Ala1659Glu p.A1659E ENST00000357398 1659 gCg/gAg 0 0.493 TCCCTTCCTGCGTTGTTTAAC IDH1 3417 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T rs121913500 TCGA-HW-A5KJ-01 TCGA-HW-A5KJ-10 Untested Somatic Phase_I WXS none Illumina GAIIx 52 41 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 0.393 ATAAGCATGACGACCTATGAT SLC36A1 206358 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 5 150867793 150867793 + missense_variant Missense_Mutation SNP A A G rs140057648 TCGA-HW-A5KJ-01 TCGA-HW-A5KJ-10 Untested Somatic Phase_I WXS none Illumina GAIIx 45 29 ENST00000243389.3:c.1409A>G p.Asn470Ser p.N470S ENST00000243389 NM_078483.2 470 aAt/aGt 0 0.567 ATCTTCATCAATTCCACCTGT SLIT3 6586 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 5 168093480 168093480 + synonymous_variant Silent SNP G G A TCGA-HW-A5KJ-01 TCGA-HW-A5KJ-10 Untested Somatic Phase_I WXS none Illumina GAIIx 23 12 ENST00000519560.1:c.4551C>T p.Cys1517= p.C1517= ENST00000519560 NM_003062.3 1517 tgC/tgT 0 0.627 CGAGGCAGCCGCACTCTAAGT KLHDC10 23008 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 7 129761996 129761996 + missense_variant Missense_Mutation SNP A A G TCGA-HW-A5KJ-01 TCGA-HW-A5KJ-10 Untested Somatic Phase_I WXS none Illumina GAIIx 56 66 ENST00000335420.5:c.733A>G p.Thr245Ala p.T245A ENST00000335420 NM_014997.3 245 Aca/Gca 0 0.423 CAGAGAGTGGACACAACTGAA CDCA2 157313 hgsc.bcm.edu;ucsc.edu GRCh37 8 25337481 25337481 + synonymous_variant Silent SNP G G A rs112148375 byFrequency TCGA-HW-A5KJ-01 TCGA-HW-A5KJ-10 Untested Somatic Phase_I WXS none Illumina GAIIx 69 32 ENST00000330560.3:c.873G>A p.Ser291= p.S291= ENST00000330560 NM_152562.2 291 tcG/tcA 0 0.507 ATGCCGTTTCGCCTGACACGT CCDC88B 283234 broad.mit.edu;ucsc.edu GRCh37 11 64111866 64111866 + missense_variant Missense_Mutation SNP A A C rs142814776 TCGA-HW-A5KJ-01 TCGA-HW-A5KJ-10 Untested Somatic Phase_I WXS none Illumina GAIIx 44 19 ENST00000356786.5:c.1853A>C p.Gln618Pro p.Q618P ENST00000356786 NM_032251.5 618 cAg/cCg 0 0.647 CAGGCCCCGCAGTTGCTGGGA SZT2 23334 broad.mit.edu;hgsc.bcm.edu GRCh37 1 43912030 43912033 + frameshift_variant Frame_Shift_Del DEL CAAA CAAA - TCGA-HW-A5KJ-01 TCGA-HW-A5KJ-10 Untested Somatic Phase_I WXS none Illumina GAIIx 24 36 ENST00000562955.1:c.8846_8849delAACA p.Lys2949SerfsTer33 p.K2949Sfs*33 ENST00000562955 NM_015284.3 2948 gtCAAA/gt 0 0.559 ACTTCTGTGTCAAACAGTTTGCCC PI4KB 5298 broad.mit.edu;hgsc.bcm.edu GRCh37 1 151265460 151265461 + frameshift_variant Frame_Shift_Del DEL TT TT - TCGA-HW-A5KJ-01 TCGA-HW-A5KJ-10 Untested Somatic Phase_I WXS none Illumina GAIIx 55 46 ENST00000368875.2:c.2354_2355delAA p.Lys785ArgfsTer9 p.K785Rfs*9 ENST00000368875 NM_002651.2 785 aAA/a 0 0.564 GGAACCTCTCTTTGAGGTTTCG OR14A16 284532 broad.mit.edu;hgsc.bcm.edu GRCh37 1 247978839 247978840 + frameshift_variant Frame_Shift_Del DEL AT AT - TCGA-HW-A5KJ-01 TCGA-HW-A5KJ-10 Untested Somatic Phase_I WXS none Illumina GAIIx 44 29 ENST00000357627.1:c.192_193delAT p.Ser65PhefsTer54 p.S65Ffs*54 ENST00000357627 NM_001001966.1 64 ctATct/ctct 0 0.421 TCCAAGAAAGATAGATTCTTCA BRE 9577 broad.mit.edu;hgsc.bcm.edu GRCh37 2 28550157 28550158 + frameshift_variant Frame_Shift_Del DEL AG AG - TCGA-HW-A5KJ-01 TCGA-HW-A5KJ-10 Untested Somatic Phase_I WXS none Illumina GAIIx 135 57 ENST00000344773.2:c.1108_1109delGA p.Asp370CysfsTer152 p.D370Cfs*152 ENST00000344773 NM_004899.4 369 AGa/a 0 0.609 CCAAGGGAGCAGAGATGCCTGC RAB3GAP1 22930 broad.mit.edu;hgsc.bcm.edu GRCh37 2 135920344 135920346 + inframe_deletion In_Frame_Del DEL AAG AAG - TCGA-HW-A5KJ-01 TCGA-HW-A5KJ-10 Untested Somatic Phase_I WXS none Illumina GAIIx 75 29 ENST00000442034.1:c.2417_2419delAGA p.Lys806del p.K806del ENST00000442034 NM_001172435.1 805 AAG/- 0 0.315 TTCTTCAGTTAAGAAGATCATAA SP3 6670 broad.mit.edu;hgsc.bcm.edu GRCh37 2 174774916 174774917 + frameshift_variant Frame_Shift_Del DEL AT AT - TCGA-HW-A5KJ-01 TCGA-HW-A5KJ-10 Untested Somatic Phase_I WXS none Illumina GAIIx 53 42 ENST00000310015.6:c.2098_2099delAT p.Ile700Ter p.I700* ENST00000310015 NM_001172712.1 700 ATt/t 0 0.376 GTGTGTTTTAATATGTTTGGCA ZBTB20 26137 broad.mit.edu;hgsc.bcm.edu GRCh37 3 114058229 114058231 + inframe_deletion In_Frame_Del DEL AGG AGG - TCGA-HW-A5KJ-01 TCGA-HW-A5KJ-10 Untested Somatic Phase_I WXS none Illumina GAIIx 51 26 ENST00000474710.1:c.1847_1849delCCT p.Ser616del p.S616del ENST00000474710 NM_001164342.1 616 tCCTta/tta 0 0.507 TAATCCTTTAAGGAGAAGGAGCG GALNTL6 442117 broad.mit.edu;hgsc.bcm.edu GRCh37 4 173961139 173961141 + inframe_deletion In_Frame_Del DEL AGA AGA - TCGA-HW-A5KJ-01 TCGA-HW-A5KJ-10 Untested Somatic Phase_I WXS none Illumina GAIIx 60 25 ENST00000506823.1:c.1700_1702delAGA p.Lys567del p.K567del ENST00000506823 NM_001034845.2 565 gAGAag/gag 0 0.424 AACCCCGCAGAGAAGAAGATTTT FNDC9 408263 broad.mit.edu;hgsc.bcm.edu GRCh37 5 156770389 156770391 + inframe_deletion In_Frame_Del DEL CTC CTC - TCGA-HW-A5KJ-01 TCGA-HW-A5KJ-10 Untested Somatic Phase_I WXS none Illumina GAIIx 89 47 ENST00000312349.4:c.154_156delGAG p.Glu52del p.E52del ENST00000312349 NM_001001343.3 52 GAG/- 0 0.537 GAGGCACCTTCTCCTCGTGGTGG EPB41L2 2037 broad.mit.edu;hgsc.bcm.edu GRCh37 6 131277495 131277497 + inframe_deletion In_Frame_Del DEL TCC TCC - TCGA-HW-A5KJ-01 TCGA-HW-A5KJ-10 Untested Somatic Phase_I WXS none Illumina GAIIx 85 36 ENST00000337057.3:c.129_131delGGA p.Glu44del p.E44del ENST00000337057 NM_001431.3 43 gaGGAa/gaa 0 0.483 GGAACCTTTTTCCTCCTCTGGAT KMT2E 55904 broad.mit.edu;hgsc.bcm.edu GRCh37 7 104717788 104717789 + frameshift_variant Frame_Shift_Del DEL AA AA - TCGA-HW-A5KJ-01 TCGA-HW-A5KJ-10 Untested Somatic Phase_I WXS none Illumina GAIIx 37 41 ENST00000311117.3:c.1040_1041delAA p.Lys347ArgfsTer5 p.K347Rfs*5 ENST00000311117 NM_182931.2 346 gcAAaa/gcaa 0 0.292 TTAAATCTGCAAAAGATTTGCC FAM91A1 157769 broad.mit.edu;hgsc.bcm.edu GRCh37 8 124789562 124789563 + splice_donor_variant,coding_sequence_variant Splice_Site DEL TG TG - TCGA-HW-A5KJ-01 TCGA-HW-A5KJ-10 Untested Somatic Phase_I WXS none Illumina GAIIx 53 17 ENST00000334705.7:c.367+1_367+2delGT p.X123_splice ENST00000334705 NM_144963.2 123 0 0.302 TGCTGCTGACTGTAAGTATTTA RUSC2 9853 broad.mit.edu;hgsc.bcm.edu GRCh37 9 35560631 35560633 + inframe_deletion In_Frame_Del DEL GAG GAG - TCGA-HW-A5KJ-01 TCGA-HW-A5KJ-10 Untested Somatic Phase_I WXS none Illumina GAIIx 15 10 ENST00000455600.1:c.3998_4000delAGG p.Glu1333del p.E1333del ENST00000455600 NM_001135999.1 1332 GAG/- 0 0.7 CCCTGCCTCTGAGGAGGCCCTGG ARHGEF39 84904 broad.mit.edu;hgsc.bcm.edu GRCh37 9 35663036 35663037 + frameshift_variant Frame_Shift_Del DEL CT CT - TCGA-HW-A5KJ-01 TCGA-HW-A5KJ-10 Untested Somatic Phase_I WXS none Illumina GAIIx 70 51 ENST00000378387.3:c.579_580delAG p.Arg193SerfsTer11 p.R193Sfs*11 ENST00000378387 NM_032818.2 193 agAGtc/agtc 0 0.53 ATAGTATGGACTCTCTGGGCAG NOTCH1 4851 broad.mit.edu;hgsc.bcm.edu GRCh37 9 139397632 139397635 + splice_donor_variant,coding_sequence_variant Splice_Site DEL ACTC ACTC - TCGA-HW-A5KJ-01 TCGA-HW-A5KJ-10 Untested Somatic Phase_I WXS none Illumina GAIIx 71 19 ENST00000277541.6:c.5166_5167+2delGAGT p.X1722_splice ENST00000277541 NM_017617.3 1722 0 0.662 GGCCACACTTACTCTGCACGGCCT NOTCH1 4851 broad.mit.edu;hgsc.bcm.edu GRCh37 9 139413073 139413075 + inframe_deletion In_Frame_Del DEL AGG AGG - TCGA-HW-A5KJ-01 TCGA-HW-A5KJ-10 Untested Somatic Phase_I WXS none Illumina GAIIx 25 24 ENST00000277541.6:c.1067_1069delCCT p.Ser356del p.S356del ENST00000277541 NM_017617.3 356 tCCTtc/ttc 0 0.65 TCGCAGTAGAAGGAGGCCACACG KAT6B 23522 broad.mit.edu;hgsc.bcm.edu GRCh37 10 76784946 76784949 + frameshift_variant Frame_Shift_Del DEL ACAA ACAA - TCGA-HW-A5KJ-01 TCGA-HW-A5KJ-10 Untested Somatic Phase_I WXS none Illumina GAIIx 59 23 ENST00000287239.4:c.3606_3609delAACA p.Thr1203ArgfsTer21 p.T1203Rfs*21 ENST00000287239 NM_001256468.1 1201 agACAA/ag 0 0.451 GGAAGAAAAGACAAACAGAGGAAG CLEC9A 283420 broad.mit.edu;hgsc.bcm.edu GRCh37 12 10205309 10205321 + frameshift_variant Frame_Shift_Del DEL CCTCTCTTCAGTG CCTCTCTTCAGTG - TCGA-HW-A5KJ-01 TCGA-HW-A5KJ-10 Untested Somatic Phase_I WXS none Illumina GAIIx 54 11 ENST00000355819.1:c.23_35delCCTCTCTTCAGTG p.Thr8ArgfsTer25 p.T8Rfs*25 ENST00000355819 NM_207345.2 8 aCCTCTCTTCAGTGg/ag 0 0.441 GAAATATACACCTCTCTTCAGTGGGATAGCCCA ALDH1L2 160428 broad.mit.edu;hgsc.bcm.edu GRCh37 12 105464505 105464507 + inframe_deletion In_Frame_Del DEL CTT CTT - TCGA-HW-A5KJ-01 TCGA-HW-A5KJ-10 Untested Somatic Phase_I WXS none Illumina GAIIx 85 20 ENST00000258494.9:c.269_271delAAG p.Glu90del p.E90del ENST00000258494 NM_001034173.3 90 gAAGtg/gtg 0 0.463 GCTTCTGCCACTTCTTTGATGGT BRMS1L 84312 broad.mit.edu;hgsc.bcm.edu GRCh37 14 36295747 36295749 + inframe_deletion In_Frame_Del DEL AAG AAG - TCGA-HW-A5KJ-01 TCGA-HW-A5KJ-10 Untested Somatic Phase_I WXS none Illumina GAIIx 9 11 ENST00000216807.7:c.28_30delAAG p.Lys10del p.K10del ENST00000216807 NM_032352.3 9 AAG/- 0 0.631 CCGAGGGGATAAGAAGGAGACCA PIGW 284098 broad.mit.edu;hgsc.bcm.edu GRCh37 17 34893506 34893508 + inframe_deletion In_Frame_Del DEL AGG AGG - TCGA-HW-A5KJ-01 TCGA-HW-A5KJ-10 Untested Somatic Phase_I WXS none Illumina GAIIx 141 50 ENST00000592983.1:c.561_563delGAG p.Arg188del p.R188del ENST00000592983 186 AGG/- 0 0.424 TCTAGAGGTCAGGAGGAGAAAAT SPECC1L 23384 broad.mit.edu;hgsc.bcm.edu GRCh37 22 24718811 24718812 + frameshift_variant Frame_Shift_Del DEL TT TT - TCGA-HW-A5KJ-01 TCGA-HW-A5KJ-10 Untested Somatic Phase_I WXS none Illumina GAIIx 101 50 ENST00000314328.9:c.1864_1865delTT p.Leu622GlyfsTer2 p.L622Gfs*2 ENST00000314328 NM_015330.4 621 acTTtg/actg 0 0.416 AAGCAGAGACTTTGGCTAGTAG BCOR 54880 broad.mit.edu GRCh37 X 39934072 39934075 + frameshift_variant Frame_Shift_Del DEL TGTT TGTT - TCGA-HW-A5KJ-01 TCGA-HW-A5KJ-10 Untested Somatic Phase_I WXS none Illumina GAIIx 80 7 ENST00000378444.4:c.524_527delAACA p.Lys175ArgfsTer40 p.K175Rfs*40 ENST00000378444 NM_001123385.1 175 aAACAg/ag 0 0.539 GAGAGGGCTCTGTTTGTCGCTGGC OR4A15 81328 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 11 55136122 55136122 + missense_variant Missense_Mutation SNP A A T TCGA-HW-7490-01 TCGA-HW-7490-10 Untested Somatic Phase_I WXS none Illumina GAIIx 78 64 ENST00000314706.3:c.763A>T p.Thr255Ser p.T255S ENST00000314706 NM_001005275.1 255 Act/Tct 0 0.438 CTCTCTTAAGACTCAGAGTTT OR5D16 390144 hgsc.bcm.edu;broad.mit.edu GRCh37 11 55606760 55606760 + missense_variant Missense_Mutation SNP A A G TCGA-HW-7490-01 TCGA-HW-7490-10 Untested Somatic Phase_I WXS none Illumina GAIIx 55 5 ENST00000378396.1:c.533A>G p.His178Arg p.H178R ENST00000378396 NM_001005496.1 178 cAt/cGt 0 0.423 ACAATCAATCATTTCTTCTGT NPAS4 266743 hgsc.bcm.edu;broad.mit.edu GRCh37 11 66192121 66192121 + missense_variant Missense_Mutation SNP C C T rs142965018 byFrequency TCGA-HW-7490-01 TCGA-HW-7490-10 Untested Somatic Phase_I WXS none Illumina GAIIx 183 17 ENST00000311034.2:c.1760C>T p.Thr587Met p.T587M ENST00000311034 NM_178864.3 587 aCg/aTg 0 0.607 GGGGACTGCACGCTCTTGGCC MMP1 4312 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 11 102666337 102666337 + splice_region_variant,synonymous_variant Splice_Region SNP C C T TCGA-HW-7490-01 TCGA-HW-7490-10 Untested Somatic Phase_I WXS none Illumina GAIIx 29 11 ENST00000315274.6:c.627G>A p.Glu209= p.E209= ENST00000315274 NM_002421.3 209 gaG/gaA 0 0.368 GTAAGTTGTACTCTAAAAAGG GRIN2B 2904 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 12 13716801 13716801 + missense_variant Missense_Mutation SNP C C T TCGA-HW-7490-01 TCGA-HW-7490-10 Untested Somatic Phase_I WXS none Illumina GAIIx 29 20 ENST00000609686.1:c.3371G>A p.Arg1124Lys p.R1124K ENST00000609686 NM_000834.3 1124 aGg/aAg 0 0.617 TTCCTTGTCCCTGAAGTAGCG KRT84 3890 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 12 52777394 52777394 + synonymous_variant Silent SNP G G A TCGA-HW-7490-01 TCGA-HW-7490-10 Untested Somatic Phase_I WXS none Illumina GAIIx 18 18 ENST00000257951.3:c.735C>T p.Val245= p.V245= ENST00000257951 NM_033045.3 245 gtC/gtT 0 0.577 AGCCCTCTAGGACATCCTGCA ACAD10 80724 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 12 112193513 112193513 + synonymous_variant Silent SNP G G A TCGA-HW-7490-01 TCGA-HW-7490-10 Untested Somatic Phase_I WXS none Illumina GAIIx 130 19 ENST00000455480.2:c.3096G>A p.Pro1032= p.P1032= ENST00000455480 NM_001136538.1 1032 ccG/ccA 0 0.517 TGGTCGCCCCGTCCATGGCCT RAB27A 5873 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 15 55497820 55497820 + missense_variant Missense_Mutation SNP C C T rs141362723 by1000genomes TCGA-HW-7490-01 TCGA-HW-7490-10 Untested Somatic Phase_I WXS none Illumina GAIIx 84 65 ENST00000396307.2:c.551G>A p.Arg184Gln p.R184Q ENST00000396307 NM_004580.4 184 cGa/cAa 0 0.463 CCGTTCCATTCGCTTCATTAT HSDL1 83693 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 16 84163854 84163854 + missense_variant Missense_Mutation SNP G G A TCGA-HW-7490-01 TCGA-HW-7490-10 Untested Somatic Phase_I WXS none Illumina GAIIx 165 16 ENST00000219439.4:c.403C>T p.Pro135Ser p.P135S ENST00000219439 NM_001146051.1 135 Cca/Tca 0 0.473 TCTCGAATTGGAAGGTAGATC TP53 7157 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 7577120 7577120 + missense_variant Missense_Mutation SNP C C T rs28934576 by1000genomes TCGA-HW-7490-01 TCGA-HW-7490-10 Untested Somatic Phase_I WXS none Illumina GAIIx 3 29 ENST00000269305.4:c.818G>A p.Arg273His p.R273H ENST00000269305 NM_001126112.2 273 cGt/cAt 0 0.542 GGCACAAACACGCACCTCAAA ARHGEF10L 55160 hgsc.bcm.edu;broad.mit.edu GRCh37 1 17961457 17961457 + missense_variant Missense_Mutation SNP G G C TCGA-HW-7490-01 TCGA-HW-7490-10 Untested Somatic Phase_I WXS none Illumina GAIIx 46 3 ENST00000361221.3:c.1873G>C p.Val625Leu p.V625L ENST00000361221 NM_018125.3 625 Gtg/Ctg 0 0.642 CAAGGACAATGTGCTCATCCA ELMOD3 84173 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 85617291 85617291 + synonymous_variant Silent SNP C C T TCGA-HW-7490-01 TCGA-HW-7490-10 Untested Somatic Phase_I WXS none Illumina GAIIx 46 23 ENST00000315658.7:c.846C>T p.Pro282= p.P282= ENST00000315658 NM_032213.4 282 ccC/ccT 0 0.567 AGGTCATCCCCGTGGTGAACA GPR39 2863 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 133175296 133175296 + synonymous_variant Silent SNP C C T TCGA-HW-7490-01 TCGA-HW-7490-10 Untested Somatic Phase_I WXS none Illumina GAIIx 50 30 ENST00000329321.3:c.681C>T p.Ala227= p.A227= ENST00000329321 NM_001508.2 227 gcC/gcT 0 0.612 TCTTCGGCGCCTTCGTGGTCT TANK 10010 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 162087893 162087893 + missense_variant Missense_Mutation SNP C C T TCGA-HW-7490-01 TCGA-HW-7490-10 Untested Somatic Phase_I WXS none Illumina GAIIx 126 10 ENST00000392749.2:c.932C>T p.Pro311Leu p.P311L ENST00000392749 NM_001199135.1 311 cCc/cTc 0 0.383 AAAACAAAGCCCTCAAATCTC IDH1 3417 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T rs121913500 TCGA-HW-7490-01 TCGA-HW-7490-10 Untested Somatic Phase_I WXS none Illumina GAIIx 64 24 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 0.393 ATAAGCATGACGACCTATGAT SLC6A11 6538 hgsc.bcm.edu;broad.mit.edu GRCh37 3 10885932 10885932 + missense_variant Missense_Mutation SNP G G C TCGA-HW-7490-01 TCGA-HW-7490-10 Untested Somatic Phase_I WXS none Illumina GAIIx 44 3 ENST00000254488.2:c.657G>C p.Glu219Asp p.E219D ENST00000254488 NM_014229.1 219 gaG/gaC 0 0.587 ACGGGATCGAGCACATCGGGA MAN2B2 23324 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 4 6612960 6612960 + synonymous_variant Silent SNP C C T TCGA-HW-7490-01 TCGA-HW-7490-10 Untested Somatic Phase_I WXS none Illumina GAIIx 21 15 ENST00000285599.3:c.2518C>T p.Leu840= p.L840= ENST00000285599 NM_015274.1 840 Ctg/Ttg 0 0.627 GAGGAGCGCACTGGCGCTGCA COL25A1 84570 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 4 109805344 109805344 + missense_variant Missense_Mutation SNP G G A TCGA-HW-7490-01 TCGA-HW-7490-10 Untested Somatic Phase_I WXS none Illumina GAIIx 47 25 ENST00000399132.1:c.1010C>T p.Pro337Leu p.P337L ENST00000399132 NM_198721.2 337 cCg/cTg 0 0.413 CTTTATCCCCGGAAGTCCAGG SCAND3 114821 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 6 28540794 28540794 + missense_variant Missense_Mutation SNP A A G TCGA-HW-7490-01 TCGA-HW-7490-10 Untested Somatic Phase_I WXS none Illumina GAIIx 45 9 ENST00000452236.2:c.2872T>C p.Cys958Arg p.C958R ENST00000452236 NM_052923.1 958 Tgt/Cgt 0 0.353 tccaaaccacatttgttaaca PTCHD4 442213 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 6 47976601 47976601 + missense_variant Missense_Mutation SNP A A T TCGA-HW-7490-01 TCGA-HW-7490-10 Untested Somatic Phase_I WXS none Illumina GAIIx 38 18 ENST00000339488.4:c.676T>A p.Phe226Ile p.F226I ENST00000339488 NM_001013732.3 226 Ttt/Att 0 0.527 GTCTTATGAAAGTCCCTCCAG CDK14 5218 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 7 90613505 90613505 + synonymous_variant Silent SNP T T A TCGA-HW-7490-01 TCGA-HW-7490-10 Untested Somatic Phase_I WXS none Illumina GAIIx 115 42 ENST00000265741.3:c.936T>A p.Ala312= p.A312= ENST00000265741 NM_012395.2 312 gcT/gcA 0 0.348 AAGGAGTTGCTGCTTTTCCAG XKR9 389668 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 8 71646066 71646066 + missense_variant Missense_Mutation SNP T T C TCGA-HW-7490-01 TCGA-HW-7490-10 Untested Somatic Phase_I WXS none Illumina GAIIx 50 6 ENST00000408926.3:c.529T>C p.Trp177Arg p.W177R ENST00000408926 NM_001011720.1 177 Tgg/Cgg 0 0.299 TGCTATTTCTTGGTCAACTGT CDH17 1015 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 8 95182644 95182644 + synonymous_variant Silent SNP G G A TCGA-HW-7490-01 TCGA-HW-7490-10 Untested Somatic Phase_I WXS none Illumina GAIIx 101 64 ENST00000027335.3:c.1047C>T p.Val349= p.V349= ENST00000027335 NM_004063.3 349 gtC/gtT 0 0.438 CATTCTCCTGGACCTCAAATA FAM78A 286336 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 9 134136482 134136482 + synonymous_variant Silent SNP C C T TCGA-HW-7490-01 TCGA-HW-7490-10 Untested Somatic Phase_I WXS none Illumina GAIIx 48 28 ENST00000372271.3:c.579G>A p.Leu193= p.L193= ENST00000372271 NM_033387.3 193 ctG/ctA 0 0.617 TGGTGGCCACCAGCCAGGTGG FRMD7 90167 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 131214037 131214037 + synonymous_variant Silent SNP T T C TCGA-HW-7490-01 TCGA-HW-7490-10 Untested Somatic Phase_I WXS none Illumina GAIIx 34 85 ENST00000298542.4:c.1047A>G p.Lys349= p.K349= ENST00000298542 NM_194277.2 349 aaA/aaG 0 0.398 ACCTTACTTGTTTTGACACAT RPS4Y2 140032 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 Y 22930744 22930744 + missense_variant Missense_Mutation SNP C C A TCGA-HW-7490-01 TCGA-HW-7490-10 Untested Somatic Phase_I WXS none Illumina GAIIx 29 22 ENST00000288666.5:c.414C>A p.His138Gln p.H138Q ENST00000288666 NM_001039567.2 138 caC/caA 0 0.438 GAATTCCACACCTGGTGACTC PALD1 27143 broad.mit.edu;ucsc.edu GRCh37 10 72307126 72307126 + missense_variant Missense_Mutation SNP C C T TCGA-HW-7490-01 TCGA-HW-7490-10 Untested Somatic Phase_I WXS none Illumina GAIIx 58 29 ENST00000263563.6:c.2186C>T p.Ala729Val p.A729V ENST00000263563 NM_014431.2 729 gCg/gTg 0 0.617 GTGGACGCAGCGCTGGACACT GPX2 2877 broad.mit.edu;ucsc.edu GRCh37 14 65406296 65406296 + synonymous_variant Silent SNP C C T rs17885748 TCGA-HW-7490-01 TCGA-HW-7490-10 Untested Somatic Phase_I WXS none Illumina GAIIx 105 20 ENST00000389614.5:c.483G>A p.Pro161= p.P161= ENST00000389614 NM_002083.3 161 ccG/ccA 0 0.537 GCTCTCCCTCCGGCCCTATGA FRY 10129 broad.mit.edu;ucsc.edu GRCh37 13 32852686 32852686 + splice_donor_variant Splice_Site SNP G G C TCGA-HW-7490-01 TCGA-HW-7490-10 Untested Somatic Phase_I WXS none Illumina GAIIx 100 16 ENST00000380250.3:c.8469+1G>C p.X2823_splice ENST00000380250 NM_023037.2 0 0.443 CGAAGAAAAGGTAATAAAAGC OR2M7 391196 broad.mit.edu;ucsc.edu GRCh37 1 248487368 248487368 + missense_variant Missense_Mutation SNP T T C TCGA-HW-7490-01 TCGA-HW-7490-10 Untested Somatic Phase_I WXS none Illumina GAIIx 182 108 ENST00000317965.2:c.503A>G p.Tyr168Cys p.Y168C ENST00000317965 NM_001004691.1 168 tAc/tGc 0 0.448 AGACCCACAGTAGGAGAAGGA MYO18A 399687 broad.mit.edu;ucsc.edu GRCh37 17 27430667 27430667 + missense_variant Missense_Mutation SNP G G C TCGA-HW-7490-01 TCGA-HW-7490-10 Untested Somatic Phase_I WXS none Illumina GAIIx 47 3 ENST00000527372.1:c.3457C>G p.Leu1153Val p.L1153V ENST00000527372 NM_078471.3 1153 Ctg/Gtg 0 0.667 AAGCACTCCAGCAGCTCCTCC APRT 353 broad.mit.edu;ucsc.edu GRCh37 16 88876924 88876924 + synonymous_variant Silent SNP G G A TCGA-HW-7490-01 TCGA-HW-7490-10 Untested Somatic Phase_I WXS none Illumina GAIIx 22 2 ENST00000378364.3:c.228C>T p.Ala76= p.A76= ENST00000378364 NM_000485.2 76 gcC/gcT 0 0.637 CAAGCTCCTGGGCCAGGGAGG SDAD1P1 404668 broad.mit.edu;ucsc.edu GRCh37 8 26237249 26237249 + non_coding_transcript_exon_variant RNA SNP G G A TCGA-HW-7490-01 TCGA-HW-7490-10 Untested Somatic Phase_I WXS none Illumina GAIIx 45 6 ENST00000519902.1:n.2700C>T *900* ENST00000519902 0 0.458 GGGATTTCCCGGGGACAGCGT PHF23 79142 broad.mit.edu;ucsc.edu GRCh37 17 7139547 7139547 + synonymous_variant Silent SNP T T C TCGA-HW-7490-01 TCGA-HW-7490-10 Untested Somatic Phase_I WXS none Illumina GAIIx 81 41 ENST00000320316.3:c.699A>G p.Pro233= p.P233= ENST00000320316 NM_024297.2 233 ccA/ccG 0 0.552 GCCCAGGAGGTGGGAGTCTAT RUNX1T1 862 broad.mit.edu;ucsc.edu GRCh37 8 93026829 93026829 + missense_variant Missense_Mutation SNP C C T TCGA-HW-7490-01 TCGA-HW-7490-10 Untested Somatic Phase_I WXS none Illumina GAIIx 88 12 ENST00000436581.2:c.479G>A p.Arg160His p.R160H ENST00000436581 160 cGc/cAc 0 0.507 AACGAGGGTGCGAACTCTTTC ASPM 259266 broad.mit.edu;hgsc.bcm.edu GRCh37 1 197070598 197070599 + frameshift_variant Frame_Shift_Del DEL TC TC - rs144088344 by1000genomes TCGA-HW-7490-01 TCGA-HW-7490-10 Untested Somatic Phase_I WXS none Illumina GAIIx 32 12 ENST00000367409.4:c.7782_7783delGA p.Lys2595SerfsTer6 p.K2595Sfs*6 ENST00000367409 NM_018136.4 2594 caGAaa/caaa 0 0.356 TGAAATACTTTCTGTTTCTTTT AMOTL2 51421 broad.mit.edu;hgsc.bcm.edu GRCh37 3 134078153 134078155 + inframe_deletion In_Frame_Del DEL TGT TGT - TCGA-HW-7490-01 TCGA-HW-7490-10 Untested Somatic Phase_I WXS none Illumina GAIIx 66 21 ENST00000249883.5:c.2074_2076delACA p.Thr692del p.T692del ENST00000249883 NM_016201.3 692 ACA/- 0 0.596 GGGCGTCTGCTGTTTGTCGCTCA CYP3A7 1551 broad.mit.edu;hgsc.bcm.edu GRCh37 7 99312223 99312224 + frameshift_variant Frame_Shift_Del DEL TT TT - TCGA-HW-7490-01 TCGA-HW-7490-10 Untested Somatic Phase_I WXS none Illumina GAIIx 89 19 ENST00000336374.2:c.752_753delAA p.Lys251IlefsTer26 p.K251Ifs*26 ENST00000336374 NM_000765.3 251 aAA/a 0 0.312 GTTTTACAGATTTTGTTAGAAA RANBP6 26953 broad.mit.edu;hgsc.bcm.edu GRCh37 9 6013101 6013102 + frameshift_variant Frame_Shift_Del DEL AG AG - TCGA-HW-7490-01 TCGA-HW-7490-10 Untested Somatic Phase_I WXS none Illumina GAIIx 97 24 ENST00000259569.5:c.2506_2507delCT p.Leu836AlafsTer3 p.L836Afs*3 ENST00000259569 NM_012416.3 836 CTg/g 0 0.337 CTCATCTTGCAGAGACATCTCA UHRF2 115426 broad.mit.edu;hgsc.bcm.edu GRCh37 9 6497275 6497278 + frameshift_variant Frame_Shift_Del DEL CAGT CAGT - TCGA-HW-7490-01 TCGA-HW-7490-10 Untested Somatic Phase_I WXS none Illumina GAIIx 40 16 ENST00000276893.5:c.1685_1688delTCAG p.Val562GlufsTer2 p.V562Efs*2 ENST00000276893 NM_152896.2 561 cCAGTc/cc 0 0.426 GCTGGTAAGCCAGTCAGAGTGATA AKAP8 10270 broad.mit.edu;hgsc.bcm.edu GRCh37 19 15471767 15471769 + inframe_deletion In_Frame_Del DEL GAA GAA - TCGA-HW-7490-01 TCGA-HW-7490-10 Untested Somatic Phase_I WXS none Illumina GAIIx 21 10 ENST00000269701.2:c.1417_1419delTTC p.Phe473del p.F473del ENST00000269701 NM_005858.3 473 TTC/- 0 0.571 CGATCTTCTTGAAGAAGTGCTCC LENG9 94059 broad.mit.edu;hgsc.bcm.edu GRCh37 19 54973460 54973461 + frameshift_variant Frame_Shift_Del DEL TG TG - TCGA-HW-7490-01 TCGA-HW-7490-10 Untested Somatic Phase_I WXS none Illumina GAIIx 53 44 ENST00000333834.4:c.1315_1316delCA p.Gln439ValfsTer58 p.Q439Vfs*58 ENST00000333834 NM_198988.1 439 CAg/g 0 0.644 CCCTGGAGACTGTAGTGTACTC USP9X 8239 broad.mit.edu;hgsc.bcm.edu GRCh37 X 41088882 41088884 + inframe_deletion In_Frame_Del DEL AAG AAG - TCGA-HW-7490-01 TCGA-HW-7490-10 Untested Somatic Phase_I WXS none Illumina GAIIx 34 15 ENST00000324545.8:c.7285_7287delAGA p.Arg2429del p.R2429del ENST00000324545 NM_001039590.2 2427 gaAAGa/gaa 0 0.404 ATGAACTTGAAAGAAGACCATAT ATRX 546 broad.mit.edu;hgsc.bcm.edu GRCh37 X 76918976 76918977 + frameshift_variant Frame_Shift_Del DEL TA TA - TCGA-HW-7490-01 TCGA-HW-7490-10 Untested Somatic Phase_I WXS none Illumina GAIIx 5 21 ENST00000373344.5:c.4014_4015delTA p.His1338GlnfsTer11 p.H1338Qfs*11 ENST00000373344 NM_000489.3 1338 caTAgg/cagg 0 0.356 CGCAAAAGCCTATGTCTGTATC ARID1A 8289 broad.mit.edu GRCh37 1 27057848 27057848 + frameshift_variant Frame_Shift_Del DEL C C - TCGA-HW-7490-01 TCGA-HW-7490-10 Untested Somatic Phase_I WXS none Illumina GAIIx 245 25 ENST00000324856.7:c.1558delC p.Gln520SerfsTer99 p.Q520Sfs*99 ENST00000324856 NM_006015.4 519 tCc/tc 0 0.632 CCTCCATACTCCCAGCAGCCA OR6Q1 219952 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 11 57799000 57799000 + synonymous_variant Silent SNP G G A TCGA-HW-7491-01 TCGA-HW-7491-10 Untested Somatic Phase_I WXS none Illumina GAIIx 65 70 ENST00000302622.3:c.576G>A p.Ser192= p.S192= ENST00000302622 NM_001005186.2 192 tcG/tcA 0 0.498 TAGCCTTGTCGTGCTCAGATG CMKLR1 1240 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 12 108685742 108685742 + missense_variant Missense_Mutation SNP C C T TCGA-HW-7491-01 TCGA-HW-7491-10 Untested Somatic Phase_I WXS none Illumina GAIIx 55 29 ENST00000312143.7:c.998G>A p.Arg333His p.R333H ENST00000312143 NM_001142344.1 333 cGc/cAc 0 0.483 ATTGACCAGGCGAGAGAAGAG SLITRK6 84189 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 13 86370348 86370348 + missense_variant Missense_Mutation SNP T T C TCGA-HW-7491-01 TCGA-HW-7491-10 Untested Somatic Phase_I WXS none Illumina GAIIx 22 80 ENST00000400286.2:c.296A>G p.Asn99Ser p.N99S ENST00000400286 NM_032229.2 99 aAt/aGt 0 0.353 ATCTGCAATATTGTTAAATCC TRIM9 114088 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 14 51448645 51448645 + missense_variant Missense_Mutation SNP G G C TCGA-HW-7491-01 TCGA-HW-7491-10 Untested Somatic Phase_I WXS none Illumina GAIIx 58 43 ENST00000298355.3:c.1780C>G p.Pro594Ala p.P594A ENST00000298355 NM_015163.5 594 Cct/Gct 0 0.517 CCAAAGGCAGGATCAGGGTGG IDH2 3418 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 15 90631838 90631838 + missense_variant Missense_Mutation SNP C C T rs121913503 TCGA-HW-7491-01 TCGA-HW-7491-10 Untested Somatic Phase_I WXS none Illumina GAIIx 32 36 ENST00000330062.3:c.515G>A p.Arg172Lys p.R172K ENST00000330062 NM_002168.2 172 aGg/aAg 0 0.632 ATGGGCGTGCCTGCCAATGGT DVL2 1856 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 7132713 7132713 + synonymous_variant Silent SNP T T C TCGA-HW-7491-01 TCGA-HW-7491-10 Untested Somatic Phase_I WXS none Illumina GAIIx 62 41 ENST00000005340.5:c.801A>G p.Thr267= p.T267= ENST00000005340 NM_004422.2 267 acA/acG 0 0.567 TTAGCGTGACTGTGATGATAT CIC 23152 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 19 42791757 42791757 + missense_variant Missense_Mutation SNP C C T TCGA-HW-7491-01 TCGA-HW-7491-10 Untested Somatic Phase_I WXS none Illumina GAIIx 10 37 ENST00000575354.2:c.643C>T p.Arg215Trp p.R215W ENST00000575354 NM_015125.3 215 Cgg/Tgg 0 0.612 CAAGCGGCACCGGGCCCTGGT TTC7A 57217 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 47220609 47220609 + missense_variant Missense_Mutation SNP G G A TCGA-HW-7491-01 TCGA-HW-7491-10 Untested Somatic Phase_I WXS none Illumina GAIIx 57 50 ENST00000319190.5:c.785G>A p.Arg262Lys p.R262K ENST00000319190 NM_020458.2 262 aGa/aAa 0 0.547 AAGGGCATGAGAGAGCTCCGG AGPS 8540 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 178386040 178386040 + missense_variant Missense_Mutation SNP T T G TCGA-HW-7491-01 TCGA-HW-7491-10 Untested Somatic Phase_I WXS none Illumina GAIIx 81 38 ENST00000264167.4:c.1741T>G p.Phe581Val p.F581V ENST00000264167 NM_003659.3 581 Ttt/Gtt 0 0.383 CTACTTCTATTTTGCCTTTAA SCN10A 6336 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 3 38739794 38739794 + synonymous_variant Silent SNP G G A rs142804903 TCGA-HW-7491-01 TCGA-HW-7491-10 Untested Somatic Phase_I WXS none Illumina GAIIx 77 78 ENST00000449082.2:c.4917C>T p.Asp1639= p.D1639= ENST00000449082 NM_006514.2 1639 gaC/gaT 0 0.547 TGAACATGTCGTCGATGCCAG TINAG 27283 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 6 54191662 54191662 + missense_variant Missense_Mutation SNP G G A TCGA-HW-7491-01 TCGA-HW-7491-10 Untested Somatic Phase_I WXS none Illumina GAIIx 65 32 ENST00000259782.4:c.572G>A p.Arg191His p.R191H ENST00000259782 NM_014464.3 191 cGc/cAc 0 0.373 TTTAAATTTCGCCTTGGCACT LAMB4 22798 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 7 107748127 107748127 + missense_variant Missense_Mutation SNP G G T TCGA-HW-7491-01 TCGA-HW-7491-10 Untested Somatic Phase_I WXS none Illumina GAIIx 45 31 ENST00000388781.3:c.540C>A p.Asp180Glu p.D180E ENST00000388781 NM_007356.2 180 gaC/gaA 0 0.398 CACAAACAATGTCTCCCACTC SLC37A3 84255 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 7 140058508 140058508 + synonymous_variant Silent SNP G G A rs142313913 byFrequency TCGA-HW-7491-01 TCGA-HW-7491-10 Untested Somatic Phase_I WXS none Illumina GAIIx 99 63 ENST00000326232.9:c.453C>T p.Asn151= p.N151= ENST00000326232 NM_207113.1 151 aaC/aaT 0 0.512 GCAGCAGGCCGTTCACAATCC VPS13A 23230 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 9 79936584 79936584 + missense_variant Missense_Mutation SNP G G A TCGA-HW-7491-01 TCGA-HW-7491-10 Untested Somatic Phase_I WXS none Illumina GAIIx 37 25 ENST00000360280.3:c.5752G>A p.Asp1918Asn p.D1918N ENST00000360280 NM_033305.2 1918 Gat/Aat 0 0.338 TTTAAGTATGGATTATATCCG PIK3CA 5290 broad.mit.edu;hgsc.bcm.edu GRCh37 3 178916938 178916940 + inframe_deletion In_Frame_Del DEL GAA GAA - TCGA-HW-7491-01 TCGA-HW-7491-10 Untested Somatic Phase_I WXS none Illumina GAIIx 54 44 ENST00000263967.3:c.328_330delGAA p.Glu110del p.E110del ENST00000263967 NM_006218.2 109 GAA/- 0 0.34 AGGCAACCGTGAAGAAAAGATCC FUT5 2527 broad.mit.edu;hgsc.bcm.edu GRCh37 19 5867346 5867347 + frameshift_variant Frame_Shift_Ins INS - - GG rs111394159 TCGA-HW-7491-01 TCGA-HW-7491-10 Untested Somatic Phase_I WXS none Illumina GAIIx 39 25 ENST00000252675.5:c.389_390dupCC p.Ser131ProfsTer118 p.S131Pfs*118 ENST00000252675 130 -/CC 0 0.663 AGGTTGGCACTGGGGTTGTACA LDB1 8861 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 10 103871263 103871263 + missense_variant Missense_Mutation SNP G G A TCGA-E1-5302-01 TCGA-E1-5302-10 Untested Somatic Phase_I WXS none Illumina GAIIx 66 43 ENST00000425280.1:c.56C>T p.Ser19Leu p.S19L ENST00000425280 NM_001113407.1 19 tCg/tTg 0 0.547 CTCCTTCGGCGAGTACAGCTT OOSP2 219990 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 11 59812148 59812148 + missense_variant Missense_Mutation SNP T T C TCGA-E1-5302-01 TCGA-E1-5302-10 Untested Somatic Phase_I WXS none Illumina GAIIx 139 28 ENST00000278855.2:c.248T>C p.Val83Ala p.V83A ENST00000278855 NM_173801.3 83 gTt/gCt 0 0.398 TCCTAGGTAGTTTCTGAGGAA TMEM109 79073 hgsc.bcm.edu;broad.mit.edu GRCh37 11 60687346 60687346 + missense_variant Missense_Mutation SNP G G C TCGA-E1-5302-01 TCGA-E1-5302-10 Untested Somatic Phase_I WXS none Illumina GAIIx 266 15 ENST00000227525.3:c.181G>C p.Val61Leu p.V61L ENST00000227525 NM_024092.2 61 Gtg/Ctg 0 0.542 AGGTCGATCTGTGCGAGGGAC ZW10 9183 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 11 113628513 113628513 + missense_variant Missense_Mutation SNP T T C TCGA-E1-5302-01 TCGA-E1-5302-10 Untested Somatic Phase_I WXS none Illumina GAIIx 148 16 ENST00000200135.3:c.796A>G p.Ile266Val p.I266V ENST00000200135 NM_004724.3 266 Ata/Gta 0 0.378 TGGCTTTCTATCACAGCATGA STAB2 55576 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 12 104049284 104049284 + synonymous_variant Silent SNP C C T TCGA-E1-5302-01 TCGA-E1-5302-10 Untested Somatic Phase_I WXS none Illumina GAIIx 56 60 ENST00000388887.2:c.1659C>T p.Tyr553= p.Y553= ENST00000388887 NM_017564.9 553 taC/taT 0 0.423 GTGGACCATACACCATTTTTG TDG 6996 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 12 104374683 104374683 + missense_variant Missense_Mutation SNP C C T TCGA-E1-5302-01 TCGA-E1-5302-10 Untested Somatic Phase_I WXS none Illumina GAIIx 246 28 ENST00000392872.3:c.421C>T p.Pro141Ser p.P141S ENST00000392872 NM_003211.4 141 Ccg/Tcg 0 0.363 TGGCATAAACCCGGGACTAAT HS3ST4 9951 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 16 26147367 26147367 + missense_variant Missense_Mutation SNP A A T TCGA-E1-5302-01 TCGA-E1-5302-10 Untested Somatic Phase_I WXS none Illumina GAIIx 86 21 ENST00000331351.5:c.1169A>T p.Lys390Ile p.K390I ENST00000331351 NM_006040.2 390 aAa/aTa 0 0.517 TATTTCAACAAAACCAAGGGG APOBR 55911 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 16 28507468 28507468 + missense_variant Missense_Mutation SNP G G A TCGA-E1-5302-01 TCGA-E1-5302-10 Untested Somatic Phase_I WXS none Illumina GAIIx 13 16 ENST00000564831.1:c.1106G>A p.Gly369Glu p.G369E ENST00000564831 NM_018690.3 369 gGg/gAg 0 0.657 GCCTCAGGAGGGGACGAGGCC CDH19 28513 hgsc.bcm.edu;broad.mit.edu GRCh37 18 64172539 64172539 + missense_variant,splice_region_variant Missense_Mutation SNP C C T TCGA-E1-5302-01 TCGA-E1-5302-10 Untested Somatic Phase_I WXS none Illumina GAIIx 173 10 ENST00000262150.2:c.1829G>A p.Gly610Glu p.G610E ENST00000262150 NM_021153.3 610 gGg/gAg 0 0.303 AAAAATAAACCCTGATGAAGA DOHH 83475 hgsc.bcm.edu;broad.mit.edu GRCh37 19 3492382 3492382 + missense_variant Missense_Mutation SNP C C T TCGA-E1-5302-01 TCGA-E1-5302-10 Untested Somatic Phase_I WXS none Illumina GAIIx 3 3 ENST00000427575.1:c.467G>A p.Arg156His p.R156H ENST00000427575 NM_001145165.1 156 cGt/cAt 0 0.746 CCCCACGTCACGCTCCTCAGC C3 718 hgsc.bcm.edu;broad.mit.edu GRCh37 19 6697496 6697496 + synonymous_variant Silent SNP G G A rs140780068 TCGA-E1-5302-01 TCGA-E1-5302-10 Untested Somatic Phase_I WXS none Illumina GAIIx 128 9 ENST00000245907.6:c.2655C>T p.Thr885= p.T885= ENST00000245907 NM_000064.2 885 acC/acT 0 0.587 GGATGGTTACGGTCTGCTGGT PLD3 23646 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 19 40883897 40883897 + synonymous_variant Silent SNP C C G TCGA-E1-5302-01 TCGA-E1-5302-10 Untested Somatic Phase_I WXS none Illumina GAIIx 147 23 ENST00000409587.1:c.1290C>G p.Thr430= p.T430= ENST00000409587 430 acC/acG 0 0.647 CTCTAGGAACCTCCAACTGGT HCN3 57657 hgsc.bcm.edu;broad.mit.edu GRCh37 1 155257756 155257756 + synonymous_variant Silent SNP G G A TCGA-E1-5302-01 TCGA-E1-5302-10 Untested Somatic Phase_I WXS none Illumina GAIIx 114 9 ENST00000368358.3:c.1827G>A p.Ala609= p.A609= ENST00000368358 NM_020897.2 609 gcG/gcA 0 0.627 TGGTACATGCGCCCCTTCAGG OR1C1 26188 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 247920937 247920937 + missense_variant Missense_Mutation SNP C C T TCGA-E1-5302-01 TCGA-E1-5302-10 Untested Somatic Phase_I WXS none Illumina GAIIx 45 54 ENST00000408896.2:c.772G>A p.Val258Ile p.V258I ENST00000408896 NM_012353.2 258 Gtc/Atc 0 0.512 CTGAAATAGACGGCGATGGCT MICALL1 85377 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 22 38323471 38323471 + missense_variant Missense_Mutation SNP C C T TCGA-E1-5302-01 TCGA-E1-5302-10 Untested Somatic Phase_I WXS none Illumina GAIIx 48 44 ENST00000215957.6:c.1519C>T p.Pro507Ser p.P507S ENST00000215957 NM_033386.3 507 Cca/Tca 0 0.677 CACACCATCGCCAGCGCTCAG CLIP4 79745 hgsc.bcm.edu;broad.mit.edu GRCh37 2 29356592 29356592 + missense_variant Missense_Mutation SNP C C T TCGA-E1-5302-01 TCGA-E1-5302-10 Untested Somatic Phase_I WXS none Illumina GAIIx 127 8 ENST00000320081.5:c.439C>T p.Arg147Cys p.R147C ENST00000320081 NM_024692.4 147 Cgc/Tgc 0 0.368 TTTGCGGAGTCGCTGGACAAA CAPN13 92291 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 30966407 30966407 + synonymous_variant Silent SNP C C T TCGA-E1-5302-01 TCGA-E1-5302-10 Untested Somatic Phase_I WXS none Illumina GAIIx 138 104 ENST00000295055.8:c.1287G>A p.Ser429= p.S429= ENST00000295055 NM_144575.2 429 tcG/tcA 0 0.473 TGTTTCTGAACGAGGAAAAAA IDH1 3417 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T rs121913500 TCGA-E1-5302-01 TCGA-E1-5302-10 Untested Somatic Phase_I WXS none Illumina GAIIx 103 50 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 0.393 ATAAGCATGACGACCTATGAT GRM7 2917 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 3 7188209 7188209 + missense_variant Missense_Mutation SNP G G A TCGA-E1-5302-01 TCGA-E1-5302-10 Untested Somatic Phase_I WXS none Illumina GAIIx 191 39 ENST00000357716.4:c.590G>A p.Arg197His p.R197H ENST00000357716 NM_000844.3 197 cGc/cAc 0 0.522 TTCTTCTCTCGCGTGGTGCCA KLHL18 23276 hgsc.bcm.edu;broad.mit.edu GRCh37 3 47361235 47361235 + synonymous_variant Silent SNP C C T TCGA-E1-5302-01 TCGA-E1-5302-10 Untested Somatic Phase_I WXS none Illumina GAIIx 296 16 ENST00000232766.5:c.222C>T p.Cys74= p.C74= ENST00000232766 NM_025010.4 74 tgC/tgT 0 0.493 TGATGGAGTGCAAGCAGGATG GPR116 221395 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 6 46826878 46826878 + missense_variant Missense_Mutation SNP C C T TCGA-E1-5302-01 TCGA-E1-5302-10 Untested Somatic Phase_I WXS none Illumina GAIIx 215 49 ENST00000283296.7:c.2762G>A p.Ser921Asn p.S921N ENST00000283296 NM_001098518.1 921 aGc/aAc 0 0.448 CATCACTAAGCTCTCTGCAAA MCM9 254394 hgsc.bcm.edu;broad.mit.edu GRCh37 6 119245149 119245149 + missense_variant Missense_Mutation SNP A A G TCGA-E1-5302-01 TCGA-E1-5302-10 Untested Somatic Phase_I WXS none Illumina GAIIx 369 27 ENST00000316316.6:c.448T>C p.Cys150Arg p.C150R ENST00000316316 NM_017696.2 150 Tgc/Cgc 0 0.458 ACATGCTTGCATTTGTTACAC SCRN1 9805 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 7 29963705 29963705 + synonymous_variant Silent SNP G G A TCGA-E1-5302-01 TCGA-E1-5302-10 Untested Somatic Phase_I WXS none Illumina GAIIx 158 18 ENST00000434476.2:c.1173C>T p.Thr391= p.T391= ENST00000434476 NM_001145514.1 391 acC/acT 0 0.557 GCTCCAGCATGGTGCTCCTCA RNF133 168433 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 7 122338205 122338205 + synonymous_variant Silent SNP G G A TCGA-E1-5302-01 TCGA-E1-5302-10 Untested Somatic Phase_I WXS none Illumina GAIIx 393 138 ENST00000340112.2:c.768C>T p.Cys256= p.C256= ENST00000340112 NM_139175.1 256 tgC/tgT 0 0.398 AGCAAATTACGCAGCTATCCC CEP41 95681 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 7 130038826 130038826 + missense_variant Missense_Mutation SNP C C T TCGA-E1-5302-01 TCGA-E1-5302-10 Untested Somatic Phase_I WXS none Illumina GAIIx 490 46 ENST00000223208.5:c.1028G>A p.Arg343Gln p.R343Q ENST00000223208 NM_018718.2 343 cGa/cAa 0 0.577 CTGAGCGCTTCGGGCACCAGG FAM154A 158297 hgsc.bcm.edu;broad.mit.edu GRCh37 9 18928507 18928507 + missense_variant Missense_Mutation SNP C C T TCGA-E1-5302-01 TCGA-E1-5302-10 Untested Somatic Phase_I WXS none Illumina GAIIx 154 10 ENST00000380534.4:c.968G>A p.Arg323Gln p.R323Q ENST00000380534 NM_153707.2 323 cGa/cAa 0 0.562 AAGTGCAGGTCGGCAGGACTG SPATA31E1 286234 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 9 90501762 90501762 + missense_variant Missense_Mutation SNP G G A TCGA-E1-5302-01 TCGA-E1-5302-10 Untested Somatic Phase_I WXS none Illumina GAIIx 203 27 ENST00000325643.5:c.2360G>A p.Arg787His p.R787H ENST00000325643 NM_178828.4 787 cGc/cAc 0 0.577 CCTGTGCGTCGCTCCTGGCTC ABCA2 20 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 9 139912486 139912486 + missense_variant Missense_Mutation SNP C C T TCGA-E1-5302-01 TCGA-E1-5302-10 Untested Somatic Phase_I WXS none Illumina GAIIx 50 11 ENST00000341511.6:c.2035G>A p.Asp679Asn p.D679N ENST00000341511 NM_212533.2 679 Gat/Aat 0 0.662 TCCACCACATCGTGCCCCACA NDOR1 27158 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 9 140110623 140110623 + synonymous_variant Silent SNP A A G TCGA-E1-5302-01 TCGA-E1-5302-10 Untested Somatic Phase_I WXS none Illumina GAIIx 141 20 ENST00000371521.4:c.1659A>G p.Ala553= p.A553= ENST00000371521 NM_001144026.1 553 gcA/gcG 0 0.642 GCCAGGGTGCATACTTCTACC LCLAT1 253558 broad.mit.edu;ucsc.edu GRCh37 2 30863465 30863465 + missense_variant Missense_Mutation SNP A A G TCGA-E1-5302-01 TCGA-E1-5302-10 Untested Somatic Phase_I WXS none Illumina GAIIx 157 19 ENST00000309052.4:c.1225A>G p.Asn409Asp p.N409D ENST00000309052 NM_182551.3 409 Aat/Gat 0 0.343 GCCACATTTAAATTCAAAGAA PDE1A 5136 broad.mit.edu;ucsc.edu GRCh37 2 183095781 183095781 + stop_gained Nonsense_Mutation SNP A A C TCGA-E1-5302-01 TCGA-E1-5302-10 Untested Somatic Phase_I WXS none Illumina GAIIx 255 39 ENST00000435564.1:c.543T>G p.Tyr181Ter p.Y181* ENST00000435564 NM_001258312.1 181 taT/taG 0 0.323 TAAACAGTTCATAAATCATAA MIB2 142678 broad.mit.edu;ucsc.edu GRCh37 1 1563188 1563188 + synonymous_variant Silent SNP C C T TCGA-E1-5302-01 TCGA-E1-5302-10 Untested Somatic Phase_I WXS none Illumina GAIIx 12 8 ENST00000505820.2:c.2004C>T p.Arg668= p.R668= ENST00000505820 668 cgC/cgT 0 0.692 TGTGTGAGCGCGGCTGTGACG CELSR1 9620 broad.mit.edu;ucsc.edu GRCh37 22 46929761 46929761 + missense_variant Missense_Mutation SNP C C T rs145654024 TCGA-E1-5302-01 TCGA-E1-5302-10 Untested Somatic Phase_I WXS none Illumina GAIIx 359 35 ENST00000262738.3:c.3307G>A p.Asp1103Asn p.D1103N ENST00000262738 NM_014246.1 1103 Gac/Aac 0 0.607 ATCTGGAAGTCGGGCAGCACA TP53 7157 broad.mit.edu;hgsc.bcm.edu GRCh37 17 7577101 7577101 + frameshift_variant Frame_Shift_Del DEL C C - TCGA-E1-5302-01 TCGA-E1-5302-10 Untested Somatic Phase_I WXS none Illumina GAIIx 19 90 ENST00000269305.4:c.837delG p.Arg280GlufsTer65 p.R280Efs*65 ENST00000269305 NM_001126112.2 279 ggG/gg 0 0.547 GCCGGTCTCTCCCAGGACAGG ATRX 546 broad.mit.edu;hgsc.bcm.edu GRCh37 X 76907649 76907650 + frameshift_variant Frame_Shift_Del DEL TC TC - TCGA-E1-5302-01 TCGA-E1-5302-10 Untested Somatic Phase_I WXS none Illumina GAIIx 59 180 ENST00000373344.5:c.4511_4512delGA p.Arg1504GlnfsTer5 p.R1504Qfs*5 ENST00000373344 NM_000489.3 1504 cGA/c 0 0.386 CAATACGTTTTCGTCTCTCTTC TP53 7157 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 7578406 7578406 + missense_variant Missense_Mutation SNP C C T rs28934578 TCGA-CS-6666-01 TCGA-CS-6666-10 Untested Somatic Phase_I WXS none Illumina GAIIx 62 28 ENST00000269305.4:c.524G>A p.Arg175His p.R175H ENST00000269305 NM_001126112.2 175 cGc/cAc 0 0.652 GTGGGGGCAGCGCCTCACAAC TP53 7157 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 7578467 7578467 + missense_variant Missense_Mutation SNP T T G TCGA-CS-6666-01 TCGA-CS-6666-10 Untested Somatic Phase_I WXS none Illumina GAIIx 48 45 ENST00000269305.4:c.463A>C p.Thr155Pro p.T155P ENST00000269305 NM_001126112.2 155 Acc/Ccc 0 0.612 CGGACGCGGGTGCCGGGCGGG KRT33A 3883 hgsc.bcm.edu;broad.mit.edu GRCh37 17 39502881 39502881 + missense_variant Missense_Mutation SNP G G A rs148488457 TCGA-CS-6666-01 TCGA-CS-6666-10 Untested Somatic Phase_I WXS none Illumina GAIIx 89 6 ENST00000007735.3:c.916C>T p.Arg306Cys p.R306C ENST00000007735 NM_004138.3 306 Cgc/Tgc 0 0.587 GAGCTGTAGCGGGCCTCGCTC DCC 1630 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 18 51025871 51025871 + missense_variant Missense_Mutation SNP T T C TCGA-CS-6666-01 TCGA-CS-6666-10 Untested Somatic Phase_I WXS none Illumina GAIIx 124 85 ENST00000442544.2:c.4102T>C p.Ser1368Pro p.S1368P ENST00000442544 NM_005215.3 1368 Tct/Cct 0 0.443 ACCACTTTTGTCTCAGCCAGG PTPN14 5784 hgsc.bcm.edu;broad.mit.edu GRCh37 1 214625279 214625279 + missense_variant Missense_Mutation SNP C C G TCGA-CS-6666-01 TCGA-CS-6666-10 Untested Somatic Phase_I WXS none Illumina GAIIx 134 9 ENST00000366956.5:c.213G>C p.Gln71His p.Q71H ENST00000366956 NM_005401.4 71 caG/caC 0 0.458 ATCGTGCTTGCTGGCTCTTGC KIF16B 55614 hgsc.bcm.edu;broad.mit.edu GRCh37 20 16360692 16360692 + missense_variant Missense_Mutation SNP C C T TCGA-CS-6666-01 TCGA-CS-6666-10 Untested Somatic Phase_I WXS none Illumina GAIIx 199 12 ENST00000408042.1:c.1955G>A p.Arg652His p.R652H ENST00000408042 NM_001199866.1 652 cGc/cAc 0 0.522 CTCCTGCTTGCGAATCTGGAG PPP1R16B 26051 hgsc.bcm.edu;broad.mit.edu GRCh37 20 37547124 37547124 + missense_variant Missense_Mutation SNP G G A TCGA-CS-6666-01 TCGA-CS-6666-10 Untested Somatic Phase_I WXS none Illumina GAIIx 72 5 ENST00000299824.1:c.1519G>A p.Ala507Thr p.A507T ENST00000299824 NM_015568.2 507 Gcc/Acc 0 0.612 CAGCAGCATGGCCAGGACGGG DSCAM 1826 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 21 41496241 41496241 + missense_variant Missense_Mutation SNP C C T TCGA-CS-6666-01 TCGA-CS-6666-10 Untested Somatic Phase_I WXS none Illumina GAIIx 105 66 ENST00000400454.1:c.3577G>A p.Ala1193Thr p.A1193T ENST00000400454 NM_001271534.1 1193 Gcg/Acg 0 0.597 TTCACACCCGCGGGAGGACCT TMPRSS2 7113 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 21 42845269 42845269 + synonymous_variant Silent SNP G G A TCGA-CS-6666-01 TCGA-CS-6666-10 Untested Somatic Phase_I WXS none Illumina GAIIx 9 7 ENST00000398585.3:c.993C>T p.Ala331= p.A331= ENST00000398585 NM_001135099.1 331 gcC/gcT 0 0.692 CGCAGTGGGCGGCTGTCACGA REL 5966 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 61149057 61149057 + missense_variant Missense_Mutation SNP C C T TCGA-CS-6666-01 TCGA-CS-6666-10 Untested Somatic Phase_I WXS none Illumina GAIIx 84 10 ENST00000295025.8:c.1247C>T p.Ala416Val p.A416V ENST00000295025 NM_002908.2 416 gCc/gTc 0 0.502 TCATCAGTGGCCCACCCCACC DYNC1I2 1781 hgsc.bcm.edu;broad.mit.edu GRCh37 2 172586272 172586272 + missense_variant Missense_Mutation SNP T T C TCGA-CS-6666-01 TCGA-CS-6666-10 Untested Somatic Phase_I WXS none Illumina GAIIx 141 10 ENST00000397119.3:c.1445T>C p.Ile482Thr p.I482T ENST00000397119 NM_001378.2 482 aTc/aCc 0 0.398 ATCACTGGCATCCATTGTCAT NBEAL1 65065 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 204003429 204003429 + missense_variant Missense_Mutation SNP G G C TCGA-CS-6666-01 TCGA-CS-6666-10 Untested Somatic Phase_I WXS none Illumina GAIIx 246 24 ENST00000449802.1:c.4719G>C p.Gln1573His p.Q1573H ENST00000449802 NM_001114132.1 1573 caG/caC 0 0.373 CTCAAATTCAGATCCAGTTGC NDUFS1 4719 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 206991481 206991481 + missense_variant Missense_Mutation SNP C C G TCGA-CS-6666-01 TCGA-CS-6666-10 Untested Somatic Phase_I WXS none Illumina GAIIx 181 18 ENST00000455934.2:c.2014G>C p.Asp672His p.D672H ENST00000455934 NM_001199984.1 672 Gat/Cat 0 0.393 CCTTCAATATCATCATATCGA IDH1 3417 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 209113113 209113113 + missense_variant Missense_Mutation SNP G G A rs121913499 TCGA-CS-6666-01 TCGA-CS-6666-10 Untested Somatic Phase_I WXS none Illumina GAIIx 76 53 ENST00000345146.2:c.394C>T p.Arg132Cys p.R132C ENST00000345146 NM_005896.2 132 Cgt/Tgt 0 0.398 TAAGCATGACGACCTATGATG VIL1 7429 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 219299321 219299321 + missense_variant Missense_Mutation SNP G G A TCGA-CS-6666-01 TCGA-CS-6666-10 Untested Somatic Phase_I WXS none Illumina GAIIx 81 68 ENST00000248444.5:c.1573G>A p.Ala525Thr p.A525T ENST00000248444 NM_007127.2 525 Gcc/Acc 0 0.572 GGGAACTGGCGCCAACAACAC MAB21L2 10586 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 4 151505024 151505024 + missense_variant Missense_Mutation SNP G G C TCGA-CS-6666-01 TCGA-CS-6666-10 Untested Somatic Phase_I WXS none Illumina GAIIx 73 8 ENST00000317605.4:c.843G>C p.Glu281Asp p.E281D ENST00000317605 NM_006439.4 281 gaG/gaC 0 0.627 TGCTGTACGAGTGCGAGAAAC CTSO 1519 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 4 156847189 156847189 + stop_lost Nonstop_Mutation SNP C C G TCGA-CS-6666-01 TCGA-CS-6666-10 Untested Somatic Phase_I WXS none Illumina GAIIx 29 9 ENST00000433477.3:c.965G>C p.Ter322SerextTer12 p.*322Sext*12 ENST00000433477 NM_001334.2 322 tGa/tCa 0 0.308 CCCAACATGTCACACAAATAT DNAH5 1767 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 5 13769245 13769245 + missense_variant,splice_region_variant Missense_Mutation SNP C C G TCGA-CS-6666-01 TCGA-CS-6666-10 Untested Somatic Phase_I WXS none Illumina GAIIx 235 68 ENST00000265104.4:c.9721G>C p.Val3241Leu p.V3241L ENST00000265104 NM_001369.2 3241 Gtc/Ctc 0 0.413 TCTTTTAAGACCTAATTCAAT KIAA0825 285600 hgsc.bcm.edu;broad.mit.edu GRCh37 5 93856210 93856210 + missense_variant Missense_Mutation SNP T T G TCGA-CS-6666-01 TCGA-CS-6666-10 Untested Somatic Phase_I WXS none Illumina GAIIx 80 6 ENST00000329378.7:c.713A>C p.Asp238Ala p.D238A ENST00000329378 NM_173665.2 238 gAt/gCt 0 0.308 AGCTATTACATCTAAATTTGA LRRC16A 55604 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 6 25606448 25606448 + missense_variant Missense_Mutation SNP G G C TCGA-CS-6666-01 TCGA-CS-6666-10 Untested Somatic Phase_I WXS none Illumina GAIIx 23 8 ENST00000329474.6:c.3794G>C p.Ser1265Thr p.S1265T ENST00000329474 NM_001173977.1 1265 aGt/aCt 0 0.592 CCCAAACCCAGTCTGGCAGCA CLIC1 1192 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 6 31698750 31698750 + missense_variant Missense_Mutation SNP T T C TCGA-CS-6666-01 TCGA-CS-6666-10 Untested Somatic Phase_I WXS none Illumina GAIIx 38 20 ENST00000375780.2:c.595A>G p.Ile199Val p.I199V ENST00000375780 NM_001287593.1 199 Atc/Gtc 0 0.582 GCCTCGGGGATGGTGAATCCC BTNL2 56244 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 6 32370727 32370727 + missense_variant Missense_Mutation SNP C C T rs79379254 TCGA-CS-6666-01 TCGA-CS-6666-10 Untested Somatic Phase_I WXS none Illumina GAIIx 24 24 ENST00000454136.3:c.694G>A p.Val232Ile p.V232I ENST00000454136 232 Gtc/Atc 0 0.582 AGGCTGATGACCGACCCCTTC ABCB1 5243 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 7 87183089 87183089 + synonymous_variant Silent SNP T T C TCGA-CS-6666-01 TCGA-CS-6666-10 Untested Somatic Phase_I WXS none Illumina GAIIx 67 49 ENST00000265724.3:c.987A>G p.Gly329= p.G329= ENST00000265724 NM_000927.4 329 ggA/ggG 0 0.378 TGAGTACTTGTCCAATAGAAT TAS2R4 50832 hgsc.bcm.edu;broad.mit.edu GRCh37 7 141478489 141478489 + missense_variant Missense_Mutation SNP C C G TCGA-CS-6666-01 TCGA-CS-6666-10 Untested Somatic Phase_I WXS none Illumina GAIIx 258 20 ENST00000247881.2:c.201C>G p.Ile67Met p.I67M ENST00000247881 NM_016944.1 67 atC/atG 0 0.443 TGAACACCATCTACTTCGTCT PLAA 9373 hgsc.bcm.edu;broad.mit.edu GRCh37 9 26905915 26905915 + missense_variant Missense_Mutation SNP C C T TCGA-CS-6666-01 TCGA-CS-6666-10 Untested Somatic Phase_I WXS none Illumina GAIIx 64 6 ENST00000397292.3:c.1982G>A p.Arg661Lys p.R661K ENST00000397292 NM_001031689.2 661 aGg/aAg 0 0.458 GCAAAAAGTCCTGAGAGCAAG AGPAT3 56894 broad.mit.edu;ucsc.edu GRCh37 21 45379705 45379705 + missense_variant Missense_Mutation SNP G G A TCGA-CS-6666-01 TCGA-CS-6666-10 Untested Somatic Phase_I WXS none Illumina GAIIx 34 5 ENST00000398063.2:c.143G>A p.Arg48His p.R48H ENST00000398063 NM_001037553.1 48 cGc/cAc 0 0.667 CTCTACCGCCGCCTCAACTGC PURG 29942 broad.mit.edu;ucsc.edu GRCh37 8 30889490 30889490 + missense_variant Missense_Mutation SNP T T C TCGA-CS-6666-01 TCGA-CS-6666-10 Untested Somatic Phase_I WXS none Illumina GAIIx 59 58 ENST00000475541.1:c.809A>G p.Asp270Gly p.D270G ENST00000475541 NM_013357.2 270 gAc/gGc 0 0.438 CCTTTTATTGTCCACTCTGAA ATRX 546 broad.mit.edu;hgsc.bcm.edu GRCh37 X 76919037 76919038 + frameshift_variant Frame_Shift_Ins INS - - T TCGA-CS-6666-01 TCGA-CS-6666-10 Untested Somatic Phase_I WXS none Illumina GAIIx 3 21 ENST00000373344.5:c.3953dupA p.Asn1318LysfsTer6 p.N1318Kfs*6 ENST00000373344 NM_000489.3 1318 aat/aaAt 0 0.351 AATTGACTTGATTTTTTGCTTC DDX24 57062 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 14 94528925 94528925 + missense_variant Missense_Mutation SNP G G A TCGA-DU-6397-01 TCGA-DU-6397-10 Untested Somatic Phase_I WXS none Illumina GAIIx 77 23 ENST00000330836.5:c.761C>T p.Ala254Val p.A254V ENST00000330836 NM_020414.3 254 gCg/gTg 0 0.458 CTGCAACACCGCATGAATCAT NF1 4763 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 29663350 29663350 + splice_acceptor_variant Splice_Site SNP G G C TCGA-DU-6397-01 TCGA-DU-6397-10 Untested Somatic Phase_I WXS none Illumina GAIIx 72 6 ENST00000358273.4:c.6007-1G>C p.X2003_splice ENST00000358273 NM_001042492.2 0 0.328 TCTTCAACTAGATTACAGATC CACNA1G 8913 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 48703623 48703623 + synonymous_variant Silent SNP A A G TCGA-DU-6397-01 TCGA-DU-6397-10 Untested Somatic Phase_I WXS none Illumina GAIIx 32 13 ENST00000359106.5:c.6645A>G p.Leu2215= p.L2215= ENST00000359106 NM_018896.4 2215 ttA/ttG 0 0.642 GAAGCAGCTTAGAGTTGGACA SSTR2 6752 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 71166516 71166516 + missense_variant Missense_Mutation SNP C C G TCGA-DU-6397-01 TCGA-DU-6397-10 Untested Somatic Phase_I WXS none Illumina GAIIx 54 11 ENST00000357585.2:c.1058C>G p.Thr353Ser p.T353S ENST00000357585 NM_001050.2 353 aCc/aGc 0 0.547 CTGAATGAGACCACGGAGACC VAV1 7409 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 19 6833209 6833209 + missense_variant Missense_Mutation SNP C C T TCGA-DU-6397-01 TCGA-DU-6397-10 Untested Somatic Phase_I WXS none Illumina GAIIx 28 16 ENST00000602142.1:c.1523C>T p.Pro508Leu p.P508L ENST00000602142 NM_005428.3 508 cCg/cTg 0 0.438 AACATCTATCCGGAGAATGCC OR7A5 26659 hgsc.bcm.edu;ucsc.edu GRCh37 19 14938560 14938560 + missense_variant Missense_Mutation SNP C C T TCGA-DU-6397-01 TCGA-DU-6397-10 Untested Somatic Phase_I WXS none Illumina GAIIx 30 13 ENST00000322301.3:c.494G>A p.Arg165Gln p.R165Q ENST00000322301 165 cGg/cAg 0 0.443 GAAGGACAGCCGTACTACCAT FLG 2312 hgsc.bcm.edu;broad.mit.edu GRCh37 1 152282972 152282972 + missense_variant Missense_Mutation SNP C C G TCGA-DU-6397-01 TCGA-DU-6397-10 Untested Somatic Phase_I WXS none Illumina GAIIx 211 17 ENST00000368799.1:c.4390G>C p.Gly1464Arg p.G1464R ENST00000368799 NM_002016.1 1464 Gga/Cga 0 0.572 CCTTGTCTTCCTCCAGTGCTG IDH1 3417 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T rs121913500 TCGA-DU-6397-01 TCGA-DU-6397-10 Untested Somatic Phase_I WXS none Illumina GAIIx 59 38 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 0.393 ATAAGCATGACGACCTATGAT OR5AC2 81050 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 3 97806608 97806608 + missense_variant Missense_Mutation SNP G G A TCGA-DU-6397-01 TCGA-DU-6397-10 Untested Somatic Phase_I WXS none Illumina GAIIx 31 24 ENST00000358642.2:c.592G>A p.Ala198Thr p.A198T ENST00000358642 NM_054106.1 198 Gca/Aca 0 0.289 ATCTATTAACGCACTAATGAT RETNLB 84666 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 3 108475916 108475916 + synonymous_variant Silent SNP G G T TCGA-DU-6397-01 TCGA-DU-6397-10 Untested Somatic Phase_I WXS none Illumina GAIIx 19 4 ENST00000295755.6:c.117C>A p.Leu39= p.L39= ENST00000295755 NM_032579.2 39 ctC/ctA 0 0.498 CTAGACTGTTGAGAACATCCT MRPL3 11222 hgsc.bcm.edu;broad.mit.edu GRCh37 3 131190117 131190117 + synonymous_variant Silent SNP A A C TCGA-DU-6397-01 TCGA-DU-6397-10 Untested Somatic Phase_I WXS none Illumina GAIIx 83 4 ENST00000264995.3:c.636T>G p.Gly212= p.G212= ENST00000264995 NM_007208.3 212 ggT/ggG 0 0.403 GAAAACCTTTACCAATACTGA ALPK1 80216 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 4 113352721 113352721 + missense_variant Missense_Mutation SNP C C A TCGA-DU-6397-01 TCGA-DU-6397-10 Untested Somatic Phase_I WXS none Illumina GAIIx 46 18 ENST00000458497.1:c.2018C>A p.Pro673His p.P673H ENST00000458497 NM_001102406.1 673 cCc/cAc 0 0.493 CCCTTGACACCCTTCTCGCCT FSTL5 56884 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 4 162577517 162577517 + missense_variant Missense_Mutation SNP T T C TCGA-DU-6397-01 TCGA-DU-6397-10 Untested Somatic Phase_I WXS none Illumina GAIIx 25 14 ENST00000306100.5:c.857A>G p.Asn286Ser p.N286S ENST00000306100 NM_001128427.2 286 aAt/aGt 0 0.353 TAGAATAATATTGTTCCTTTT FSTL5 56884 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 4 162577525 162577525 + missense_variant Missense_Mutation SNP T T A rs61746784 TCGA-DU-6397-01 TCGA-DU-6397-10 Untested Somatic Phase_I WXS none Illumina GAIIx 29 15 ENST00000306100.5:c.849A>T p.Lys283Asn p.K283N ENST00000306100 NM_001128427.2 283 aaA/aaT 0 0.353 TATTGTTCCTTTTCCAGATAA MCC 4163 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 5 112439958 112439958 + synonymous_variant Silent SNP G G T rs142794653 byFrequency TCGA-DU-6397-01 TCGA-DU-6397-10 Untested Somatic Phase_I WXS none Illumina GAIIx 117 31 ENST00000408903.3:c.1122C>A p.Ser374= p.S374= ENST00000408903 NM_001085377.1 374 tcC/tcA 0 0.572 CCTCGGCCACGGAGAGGCTGC UBLCP1 134510 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 5 158697549 158697549 + missense_variant Missense_Mutation SNP C C A TCGA-DU-6397-01 TCGA-DU-6397-10 Untested Somatic Phase_I WXS none Illumina GAIIx 85 9 ENST00000296786.6:c.346C>A p.Leu116Met p.L116M ENST00000296786 NM_145049.3 116 Ctg/Atg 0 0.333 AGAAAACCTACTGAAAATTTC RREB1 6239 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 6 7229828 7229828 + missense_variant Missense_Mutation SNP C C T TCGA-DU-6397-01 TCGA-DU-6397-10 Untested Somatic Phase_I WXS none Illumina GAIIx 264 47 ENST00000379938.2:c.1496C>T p.Ala499Val p.A499V ENST00000379938 NM_001003700.1 499 gCg/gTg 0 0.642 CCACTGCAGGCGATCTTCAAG GPR115 221393 hgsc.bcm.edu;broad.mit.edu GRCh37 6 47682356 47682356 + missense_variant Missense_Mutation SNP A A G TCGA-DU-6397-01 TCGA-DU-6397-10 Untested Somatic Phase_I WXS none Illumina GAIIx 337 22 ENST00000283303.2:c.1375A>G p.Ile459Val p.I459V ENST00000283303 NM_153838.3 459 Ata/Gta 0 0.458 GTGGTTTATCATAGGCTCTCA KIT 3815 broad.mit.edu;ucsc.edu GRCh37 4 55573431 55573431 + missense_variant Missense_Mutation SNP T T A TCGA-DU-6397-01 TCGA-DU-6397-10 Untested Somatic Phase_I WXS none Illumina GAIIx 49 20 ENST00000288135.5:c.1093T>A p.Ser365Thr p.S365T ENST00000288135 NM_000222.2 365 Tct/Act 0 0.403 TTATCCCAAGTCTGAGAATGA OR4M1 441670 broad.mit.edu;ucsc.edu GRCh37 14 20248557 20248557 + missense_variant Missense_Mutation SNP G G T TCGA-DU-6397-01 TCGA-DU-6397-10 Untested Somatic Phase_I WXS none Illumina GAIIx 288 30 ENST00000315957.4:c.76G>T p.Val26Phe p.V26F ENST00000315957 NM_001005500.1 26 Gtc/Ttc 0 0.388 GGTCCAACTAGTCCTATTTGT RUFY2 55680 broad.mit.edu;ucsc.edu GRCh37 10 70141155 70141155 + missense_variant,splice_region_variant Missense_Mutation SNP T T C TCGA-DU-6397-01 TCGA-DU-6397-10 Untested Somatic Phase_I WXS none Illumina GAIIx 122 77 ENST00000388768.2:c.1046A>G p.Asp349Gly p.D349G ENST00000388768 NM_017987.4 349 gAt/gGt 0 0.358 ATTCTCTACATCCTGCAATTT FRMD4B 23150 broad.mit.edu;hgsc.bcm.edu GRCh37 3 69230517 69230518 + frameshift_variant Frame_Shift_Del DEL TT TT - TCGA-DU-6397-01 TCGA-DU-6397-10 Untested Somatic Phase_I WXS none Illumina GAIIx 49 11 ENST00000398540.3:c.2383_2384delAA p.Lys795GlufsTer21 p.K795Efs*21 ENST00000398540 NM_015123.1 795 AAg/g 0 0.446 CTCCTGACTCTTTGAGTAAACA C8orf47 203111 broad.mit.edu;hgsc.bcm.edu GRCh37 8 99101783 99101784 + frameshift_variant Frame_Shift_Ins INS - - A TCGA-DU-6397-01 TCGA-DU-6397-10 Untested Somatic Phase_I WXS none Illumina GAIIx 28 10 ENST00000318528.3:c.541dupA p.Thr181AsnfsTer12 p.T181Nfs*12 ENST00000318528 NM_173549.2 180 caa/cAaa 0 0.52 TGAGAATCCACAAACTGCTGCA SS18 6760 broad.mit.edu;hgsc.bcm.edu GRCh37 18 23632625 23632626 + frameshift_variant Frame_Shift_Del DEL AT AT - TCGA-DU-6397-01 TCGA-DU-6397-10 Untested Somatic Phase_I WXS none Illumina GAIIx 125 32 ENST00000415083.2:c.569_570delAT p.Tyr190TrpfsTer49 p.Y190Wfs*49 ENST00000415083 NM_001007559.1 190 tAT/t 0 0.426 GTCTGGGACCATAGTTTCCCAT FUBP1 8880 broad.mit.edu GRCh37 1 78444677 78444678 + frameshift_variant Frame_Shift_Del DEL AT AT - TCGA-DU-6397-01 TCGA-DU-6397-10 Untested Somatic Phase_I WXS none Illumina GAIIx 7 10 ENST00000370768.2:c.11_12delAT p.Tyr4PhefsTer24 p.Y4Ffs*24 ENST00000370768 NM_003902.3 4 tAT/t 0 0.559 GCACTGTTGAATAGTCTGCCAT CIC 23152 ucsc.edu GRCh37 19 42791721 42791721 + missense_variant Missense_Mutation SNP C C G TCGA-DU-6397-01 TCGA-DU-6397-10 Untested Somatic Phase_I WXS none Illumina GAIIx 39 3 ENST00000575354.2:c.607C>G p.Pro203Ala p.P203A ENST00000575354 NM_015125.3 203 Ccc/Gcc 0 0.627 CATCCGGCGGCCCATGAATGC CIC 23152 ucsc.edu GRCh37 19 42791790 42791790 + missense_variant Missense_Mutation SNP G G T TCGA-DU-6397-01 TCGA-DU-6397-10 Untested Somatic Phase_I WXS none Illumina GAIIx 39 3 ENST00000575354.2:c.676G>T p.Asp226Tyr p.D226Y ENST00000575354 NM_015125.3 226 Gac/Tac 0 0.612 TCCCAACCAGGACAACCGGAC ANKRD30A 91074 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 10 37419199 37419199 + missense_variant Missense_Mutation SNP G G A TCGA-HT-7620-01 TCGA-HT-7620-10 Untested Somatic Phase_I WXS none Illumina GAIIx 43 10 ENST00000361713.1:c.235G>A p.Val79Ile p.V79I ENST00000361713 NM_052997.2 79 Gta/Ata 0 0.423 TATAAATCTCGTAGATGTGTA FOXM1 2305 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 12 2968215 2968215 + synonymous_variant Silent SNP C C T TCGA-HT-7620-01 TCGA-HT-7620-10 Untested Somatic Phase_I WXS none Illumina GAIIx 105 22 ENST00000342628.2:c.1995G>A p.Thr665= p.T665= ENST00000342628 NM_202002.2 665 acG/acA 0 0.592 TGGCTGGGGGCGTGAGCCTCC USP30 84749 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 12 109519737 109519737 + splice_acceptor_variant Splice_Site SNP G G A TCGA-HT-7620-01 TCGA-HT-7620-10 Untested Somatic Phase_I WXS none Illumina GAIIx 128 31 ENST00000257548.5:c.781-1G>A p.X261_splice ENST00000257548 NM_032663.3 0 0.428 TCATGCTGTAGGGTCACCCAT CYP1A2 1544 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 15 75042314 75042314 + missense_variant Missense_Mutation SNP C C T TCGA-HT-7620-01 TCGA-HT-7620-10 Untested Somatic Phase_I WXS none Illumina GAIIx 39 15 ENST00000343932.4:c.235C>T p.Arg79Cys p.R79C ENST00000343932 NM_000761.3 79 Cgc/Tgc 0 0.672 CCTGCAGATCCGCATTGGCTC USP31 57478 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 16 23080559 23080559 + missense_variant Missense_Mutation SNP C C T TCGA-HT-7620-01 TCGA-HT-7620-10 Untested Somatic Phase_I WXS none Illumina GAIIx 150 16 ENST00000219689.7:c.2867G>A p.Arg956His p.R956H ENST00000219689 NM_020718.3 956 cGc/cAc 0 0.552 GTTCAATCTGCGGGTGTCCGA PRSS54 221191 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 16 58324928 58324928 + missense_variant Missense_Mutation SNP G G T TCGA-HT-7620-01 TCGA-HT-7620-10 Untested Somatic Phase_I WXS none Illumina GAIIx 76 18 ENST00000219301.4:c.198C>A p.His66Gln p.H66Q ENST00000219301 NM_001080492.1 66 caC/caA 0 0.607 CGAAAGCCAGGTGTGTGTACT FUBP1 8880 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 78429792 78429792 + stop_gained Nonsense_Mutation SNP A A T TCGA-HT-7620-01 TCGA-HT-7620-10 Untested Somatic Phase_I WXS none Illumina GAIIx 99 29 ENST00000370768.2:c.996T>A p.Cys332Ter p.C332* ENST00000370768 NM_003902.3 332 tgT/tgA 0 0.328 CAGCATGTTGACATCGGTCTG CFH 3075 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 196648911 196648911 + missense_variant Missense_Mutation SNP C C T TCGA-HT-7620-01 TCGA-HT-7620-10 Untested Somatic Phase_I WXS none Illumina GAIIx 34 6 ENST00000367429.4:c.778C>T p.Pro260Ser p.P260S ENST00000367429 NM_000186.3 260 Cct/Tct 0 0.294 GCGTCCGTTGCCTTCATGTGA CNST 163882 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 246810446 246810446 + missense_variant Missense_Mutation SNP A A G TCGA-HT-7620-01 TCGA-HT-7620-10 Untested Somatic Phase_I WXS none Illumina GAIIx 42 14 ENST00000366513.4:c.943A>G p.Lys315Glu p.K315E ENST00000366513 NM_152609.2 315 Aaa/Gaa 0 0.388 TTTAGAGAGTAAAACTTGTCT CCT7 10574 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 73478419 73478419 + stop_gained Nonsense_Mutation SNP C C G TCGA-HT-7620-01 TCGA-HT-7620-10 Untested Somatic Phase_I WXS none Illumina GAIIx 95 30 ENST00000258091.5:c.1269C>G p.Tyr423Ter p.Y423* ENST00000258091 NM_006429.3 423 taC/taG 0 0.517 TGCGGGATTACTCAAGGACTA IDH1 3417 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T rs121913500 TCGA-HT-7620-01 TCGA-HT-7620-10 Untested Somatic Phase_I WXS none Illumina GAIIx 70 16 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 0.393 ATAAGCATGACGACCTATGAT SRD5A1 6715 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 5 6663021 6663021 + missense_variant Missense_Mutation SNP G G A TCGA-HT-7620-01 TCGA-HT-7620-10 Untested Somatic Phase_I WXS none Illumina GAIIx 84 25 ENST00000274192.5:c.655G>A p.Ala219Thr p.A219T ENST00000274192 NM_001047.2 219 Gcg/Acg 0 0.408 TGTCCAAGGCGCGGCTTTTGC GRIA1 2890 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 5 153175109 153175109 + intron_variant Intron SNP T T C TCGA-HT-7620-01 TCGA-HT-7620-10 Untested Somatic Phase_I WXS none Illumina GAIIx 51 10 ENST00000518783.1:c.2415+814T>C *805* ENST00000518783 NM_001258021.1 0 0.473 CAAATGGTGGTACGATAAAGG SLC34A1 6569 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 5 176825109 176825109 + missense_variant Missense_Mutation SNP G G A TCGA-HT-7620-01 TCGA-HT-7620-10 Untested Somatic Phase_I WXS none Illumina GAIIx 70 21 ENST00000324417.5:c.1742G>A p.Arg581His p.R581H ENST00000324417 NM_003052.4 581 cGc/cAc 0 0.667 TTCCTGCCTCGCTGGATGCAC SCAND3 114821 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 6 28540669 28540669 + synonymous_variant Silent SNP G G A TCGA-HT-7620-01 TCGA-HT-7620-10 Untested Somatic Phase_I WXS none Illumina GAIIx 87 19 ENST00000452236.2:c.2997C>T p.Cys999= p.C999= ENST00000452236 NM_052923.1 999 tgC/tgT 0 0.328 gatgaatgaagcaatgtgttg TFAP2B 7021 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 6 50807962 50807962 + missense_variant Missense_Mutation SNP C C A TCGA-HT-7620-01 TCGA-HT-7620-10 Untested Somatic Phase_I WXS none Illumina GAIIx 87 12 ENST00000393655.3:c.1034C>A p.Thr345Lys p.T345K ENST00000393655 NM_003221.3 345 aCa/aAa 0 0.517 CGGCAGCACACAGACCCGAGT LAMA2 3908 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 6 129823889 129823889 + missense_variant Missense_Mutation SNP C C T TCGA-HT-7620-01 TCGA-HT-7620-10 Untested Somatic Phase_I WXS none Illumina GAIIx 49 9 ENST00000421865.2:c.8330C>T p.Ala2777Val p.A2777V ENST00000421865 NM_001079823.1 2777 gCa/gTa 0 0.408 ATTGCAATTGCATTTGATGAC CLIC2 1193 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 X 154508571 154508571 + stop_gained Nonsense_Mutation SNP A A C TCGA-HT-7620-01 TCGA-HT-7620-10 Untested Somatic Phase_I WXS none Illumina GAIIx 16 20 ENST00000369449.2:c.449T>G p.Leu150Ter p.L150* ENST00000369449 NM_001289.4 150 tTa/tGa 0 0.408 TGGGGTGTTTAAGTAGTCATC CAMK2D 817 broad.mit.edu;ucsc.edu GRCh37 4 114436309 114436309 + synonymous_variant Silent SNP G G A TCGA-HT-7620-01 TCGA-HT-7620-10 Untested Somatic Phase_I WXS none Illumina GAIIx 70 16 ENST00000342666.5:c.735C>T p.Ala245= p.A245= ENST00000342666 245 gcC/gcT 0 0.398 TGAGGTCTTTGGCTTCAGGAG DHX35 60625 broad.mit.edu;ucsc.edu GRCh37 20 37634881 37634881 + synonymous_variant Silent SNP C C T TCGA-HT-7620-01 TCGA-HT-7620-10 Untested Somatic Phase_I WXS none Illumina GAIIx 263 65 ENST00000252011.3:c.1104C>T p.Tyr368= p.Y368= ENST00000252011 NM_021931.3 368 taC/taT 0 0.522 TCCGAGCCTACAATCCCAGGA PIK3CA 5290 broad.mit.edu GRCh37 3 178916938 178916940 + inframe_deletion In_Frame_Del DEL GAA GAA - TCGA-HT-7620-01 TCGA-HT-7620-10 Untested Somatic Phase_I WXS none Illumina GAIIx 38 9 ENST00000263967.3:c.328_330delGAA p.Glu110del p.E110del ENST00000263967 NM_006218.2 109 GAA/- 0 0.34 AGGCAACCGTGAAGAAAAGATCC NLRP14 338323 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 11 7064302 7064302 + missense_variant Missense_Mutation SNP G G A TCGA-DH-5141-01 TCGA-DH-5141-10 Untested Somatic Phase_I WXS none Illumina GAIIx 209 27 ENST00000299481.4:c.1045G>A p.Ala349Thr p.A349T ENST00000299481 NM_176822.3 349 Gcc/Acc 0 0.428 TAAGAGGTGGGCCATGAAAGT NCKAP1L 3071 hgsc.bcm.edu;ucsc.edu GRCh37 12 54914539 54914539 + missense_variant Missense_Mutation SNP C C T TCGA-DH-5141-01 TCGA-DH-5141-10 Untested Somatic Phase_I WXS none Illumina GAIIx 495 231 ENST00000293373.6:c.1687C>T p.Arg563Cys p.R563C ENST00000293373 NM_005337.4 563 Cgt/Tgt 0 0.463 TGCCATGTTGCGTTATGCCAT LGR5 8549 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 12 71978453 71978453 + missense_variant Missense_Mutation SNP C C T TCGA-DH-5141-01 TCGA-DH-5141-10 Untested Somatic Phase_I WXS none Illumina GAIIx 187 95 ENST00000266674.5:c.2663C>T p.Pro888Leu p.P888L ENST00000266674 NM_001277226.1 888 cCa/cTa 0 0.458 GTGCCATCACCAGCTTATCCA IDH2 3418 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 15 90631838 90631838 + missense_variant Missense_Mutation SNP C C T rs121913503 TCGA-DH-5141-01 TCGA-DH-5141-10 Untested Somatic Phase_I WXS none Illumina GAIIx 82 51 ENST00000330062.3:c.515G>A p.Arg172Lys p.R172K ENST00000330062 NM_002168.2 172 aGg/aAg 0 0.632 ATGGGCGTGCCTGCCAATGGT KRT36 8689 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 17 39642800 39642800 + missense_variant Missense_Mutation SNP G G A TCGA-DH-5141-01 TCGA-DH-5141-10 Untested Somatic Phase_I WXS none Illumina GAIIx 27 5 ENST00000328119.6:c.1232C>T p.Thr411Met p.T411M ENST00000328119 NM_003771.4 411 aCg/aTg 0 0.577 CTTGCATGCCGTGGCACAAGG CDH20 28316 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 18 59174700 59174700 + synonymous_variant Silent SNP G G A TCGA-DH-5141-01 TCGA-DH-5141-10 Untested Somatic Phase_I WXS none Illumina GAIIx 144 15 ENST00000262717.4:c.924G>A p.Glu308= p.E308= ENST00000262717 308 gaG/gaA 0 0.433 TCAATGCAGAGATGAAATATA SERPINB3 6317 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 18 61323264 61323264 + missense_variant Missense_Mutation SNP A A C TCGA-DH-5141-01 TCGA-DH-5141-10 Untested Somatic Phase_I WXS none Illumina GAIIx 131 29 ENST00000283752.5:c.800T>G p.Met267Arg p.M267R ENST00000283752 NM_006919.2 267 aTg/aGg 0 0.378 TGTCCATTCCATCAATTTCTC GBP5 115362 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 89728016 89728016 + missense_variant Missense_Mutation SNP C C T TCGA-DH-5141-01 TCGA-DH-5141-10 Untested Somatic Phase_I WXS none Illumina GAIIx 80 66 ENST00000343435.5:c.1534G>A p.Glu512Lys p.E512K ENST00000343435 NM_001134486.2 512 Gag/Aag 0 0.463 ATCATTTGCTCGTTCTGCCTT PCNXL2 80003 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 1 233344354 233344354 + missense_variant Missense_Mutation SNP C C T TCGA-DH-5141-01 TCGA-DH-5141-10 Untested Somatic Phase_I WXS none Illumina GAIIx 93 14 ENST00000258229.9:c.2773G>A p.Ala925Thr p.A925T ENST00000258229 NM_014801.3 925 Gcc/Acc 0 0.423 CTGGCTTTGGCCCCTGTATCA PCSK2 5126 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 20 17434533 17434533 + synonymous_variant Silent SNP C C T TCGA-DH-5141-01 TCGA-DH-5141-10 Untested Somatic Phase_I WXS none Illumina GAIIx 152 26 ENST00000262545.2:c.1032C>T p.Asp344= p.D344= ENST00000262545 NM_002594.3 344 gaC/gaT 0 0.597 CCCTGTACGACGAGAGCTGCT PI4KA 5297 hgsc.bcm.edu;broad.mit.edu GRCh37 22 21115635 21115635 + missense_variant Missense_Mutation SNP C C T TCGA-DH-5141-01 TCGA-DH-5141-10 Untested Somatic Phase_I WXS none Illumina GAIIx 127 11 ENST00000255882.6:c.2748G>A p.Met916Ile p.M916I ENST00000255882 NM_058004.3 916 atG/atA 0 0.368 AGTAGCAGAACATTACCTGGA SPECC1L 23384 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 22 24717648 24717648 + missense_variant Missense_Mutation SNP C C T TCGA-DH-5141-01 TCGA-DH-5141-10 Untested Somatic Phase_I WXS none Illumina GAIIx 187 86 ENST00000314328.9:c.700C>T p.His234Tyr p.H234Y ENST00000314328 NM_015330.4 234 Cac/Tac 0 0.438 TATTATGGCTCACCAGCCGAC C2orf71 388939 hgsc.bcm.edu;broad.mit.edu GRCh37 2 29294007 29294007 + missense_variant Missense_Mutation SNP G G A TCGA-DH-5141-01 TCGA-DH-5141-10 Untested Somatic Phase_I WXS none Illumina GAIIx 91 41 ENST00000331664.5:c.3121C>T p.Pro1041Ser p.P1041S ENST00000331664 NM_001029883.2 1041 Cca/Tca 0 0.687 GTGGTGGGTGGGCTTAGCACC RIF1 55183 hgsc.bcm.edu;broad.mit.edu GRCh37 2 152293371 152293371 + missense_variant Missense_Mutation SNP C C A TCGA-DH-5141-01 TCGA-DH-5141-10 Untested Somatic Phase_I WXS none Illumina GAIIx 120 11 ENST00000243326.5:c.1226C>A p.Thr409Asn p.T409N ENST00000243326 409 aCt/aAt 0 0.418 GCCCCGGGAACTCCCCGAATG CHRNA1 1134 hgsc.bcm.edu;broad.mit.edu GRCh37 2 175614763 175614763 + missense_variant Missense_Mutation SNP C C T rs137852804 TCGA-DH-5141-01 TCGA-DH-5141-10 Untested Somatic Phase_I WXS none Illumina GAIIx 148 9 ENST00000261007.5:c.988G>A p.Val330Ile p.V330I ENST00000261007 NM_001039523.2 330 Gtc/Atc 0 0.537 GAGGCAATGACGAACACCATG PLXNB1 5364 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 3 48461210 48461210 + missense_variant Missense_Mutation SNP G G C TCGA-DH-5141-01 TCGA-DH-5141-10 Untested Somatic Phase_I WXS none Illumina GAIIx 14 7 ENST00000358536.4:c.2485C>G p.Pro829Ala p.P829A ENST00000358536 NM_002673.4 829 Cca/Gca 0 0.701 ATGGCCCCTGGGAAAGTGGTG NIPBL 25836 hgsc.bcm.edu;broad.mit.edu GRCh37 5 37008732 37008732 + stop_gained Nonsense_Mutation SNP C C G TCGA-DH-5141-01 TCGA-DH-5141-10 Untested Somatic Phase_I WXS none Illumina GAIIx 224 12 ENST00000282516.8:c.4328C>G p.Ser1443Ter p.S1443* ENST00000282516 NM_133433.3 1443 tCa/tGa 0 0.274 CAGGTATTCTCAAGATATGAA C5orf34 375444 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 5 43506030 43506030 + stop_gained Nonsense_Mutation SNP C C T TCGA-DH-5141-01 TCGA-DH-5141-10 Untested Somatic Phase_I WXS none Illumina GAIIx 269 22 ENST00000306862.2:c.752G>A p.Trp251Ter p.W251* ENST00000306862 NM_198566.2 251 tGg/tAg 0 0.408 AGGATATTTCCATTCCTCTGG ADRB2 154 hgsc.bcm.edu;broad.mit.edu GRCh37 5 148206922 148206922 + synonymous_variant Silent SNP C C T TCGA-DH-5141-01 TCGA-DH-5141-10 Untested Somatic Phase_I WXS none Illumina GAIIx 288 20 ENST00000305988.4:c.528C>T p.Ala176= p.A176= ENST00000305988 NM_000024.5 176 gcC/gcT 0 0.537 GGTACCGGGCCACCCACCAGG GRM1 2911 hgsc.bcm.edu;broad.mit.edu GRCh37 6 146720659 146720659 + synonymous_variant Silent SNP G G C TCGA-DH-5141-01 TCGA-DH-5141-10 Untested Somatic Phase_I WXS none Illumina GAIIx 128 9 ENST00000361719.2:c.2484G>C p.Gly828= p.G828= ENST00000361719 828 ggG/ggC 0 0.488 TGGCTCTGGGGTGCATGTTCA RALYL 138046 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 8 85774590 85774590 + missense_variant Missense_Mutation SNP G G A TCGA-DH-5141-01 TCGA-DH-5141-10 Untested Somatic Phase_I WXS none Illumina GAIIx 49 7 ENST00000517638.1:c.512G>A p.Arg171His p.R171H ENST00000517638 NM_001100391.1 171 cGt/cAt 0 0.507 CCGCTGAAGCGTCCCAGAGTG KLF4 9314 hgsc.bcm.edu;broad.mit.edu;ucsc.edu GRCh37 9 110249405 110249405 + missense_variant Missense_Mutation SNP G G A TCGA-DH-5141-01 TCGA-DH-5141-10 Untested Somatic Phase_I WXS none Illumina GAIIx 177 88 ENST00000374672.4:c.1168C>T p.Arg390Trp p.R390W ENST00000374672 NM_004235.4 390 Cgg/Tgg 0 0.587 GTCCTTTTCCGGGGCCACGAT CHMP1A 5119 broad.mit.edu;ucsc.edu GRCh37 16 89715806 89715806 + missense_variant Missense_Mutation SNP C C T TCGA-DH-5141-01 TCGA-DH-5141-10 Untested Somatic Phase_I WXS none Illumina GAIIx 151 70 ENST00000397901.3:c.205G>A p.Val69Ile p.V69I ENST00000397901 NM_002768.4 69 Gta/Ata 0 0.597 ACTGCGTCTACGCGGGACGCC