Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut HEATR2 54919 broad.mit.edu 37 7 780561 780561 + Missense_Mutation SNP G G A TCGA-DU-8166-01A-11D-2253-08 TCGA-DU-8166-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae60b340-7cc9-4ebd-85a7-dc2ec942782c c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a g.chr7:780561G>A ENST00000297440.6 + 3 906 c.886G>A c.(886-888)Gac>Aac p.D296N HEATR2_ENST00000438961.1_3'UTR|HEATR2_ENST00000313147.5_Missense_Mutation_p.D296N NM_017802.3 NP_060272.3 Q86Y56 HEAT2_HUMAN HEAT repeat containing 2 296 protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1) 22 Ovarian(82;0.0112) UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14) TAGCCTCAACGACGAGGTGCC 0.622000 4 122 0 0 1 0 0 GPR180 160897 broad.mit.edu 37 13 95275437 95275437 + Silent SNP G G C TCGA-DU-8166-01A-11D-2253-08 TCGA-DU-8166-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae60b340-7cc9-4ebd-85a7-dc2ec942782c c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a g.chr13:95275437G>C ENST00000376958.4 + 7 994 c.969G>C c.(967-969)ggG>ggC p.G323G NM_180989.5 NP_851320.1 Q86V85 GP180_HUMAN G protein-coupled receptor 180 323 integral to membrane breast(1)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1) 10 all_neural(89;0.0684)|Medulloblastoma(90;0.163) ACTTAGCAGGGATCCTCCTAA 0.388000 19 161 0 0 1 0 0 CA5BP1 0 broad.mit.edu 37 X 15711150 15711150 + RNA SNP A A G TCGA-DU-8166-01A-11D-2253-08 TCGA-DU-8166-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae60b340-7cc9-4ebd-85a7-dc2ec942782c c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a g.chrX:15711150A>G ENST00000380334.2 + 0 290 CTGGAAGAAAATGGTTTGGCT 0.358000 3 97 0 0 1 0 0 SLC9A5 6553 broad.mit.edu 37 16 67304913 67304913 + Silent SNP C C T TCGA-DU-8166-01A-11D-2253-08 TCGA-DU-8166-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae60b340-7cc9-4ebd-85a7-dc2ec942782c c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a g.chr16:67304913C>T ENST00000299798.11 + 16 2556 c.2491C>T c.(2491-2493)Cta>Tta p.L831L NM_004594.2 NP_004585.1 Q14940 SL9A5_HUMAN solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5 831 regulation of pH integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 27 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116) CCCTCTCCACCTACCTTCTGA 0.657000 16 42 0 0 1 0 0 TUBGCP6 85378 broad.mit.edu 37 22 50659212 50659212 + Silent SNP A A G rs141527317 TCGA-DU-8166-01A-11D-2253-08 TCGA-DU-8166-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae60b340-7cc9-4ebd-85a7-dc2ec942782c c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a g.chr22:50659212A>G ENST00000439308.2 - 16 4068 c.3576T>C c.(3574-3576)tcT>tcC p.S1192S TUBGCP6_ENST00000248846.5_Silent_p.S1192S|TUBGCP6_ENST00000491449.1_5'UTR NM_020461.3 NP_065194.2 Q96RT7 GCP6_HUMAN tubulin, gamma complex associated protein 6 1192 9 X 27 AA tandem repeats. G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2) 45 all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21) TGCTGGCATCAGACACGTGTC 0.617000 4 114 0 0 1 0 0 CD200 4345 broad.mit.edu 37 3 112054859 112054859 + Missense_Mutation SNP T T C TCGA-DU-8166-01A-11D-2253-08 TCGA-DU-8166-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae60b340-7cc9-4ebd-85a7-dc2ec942782c c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a g.chr3:112054859T>C ENST00000473539.1 + 2 139 c.82T>C c.(82-84)Tac>Cac p.Y28H CD200_ENST00000383681.3_Intron|CD200_ENST00000315711.8_Intron NM_001004196.2 NP_001004196.2 P41217 OX2G_HUMAN CD200 molecule 0 regulation of immune response integral to plasma membrane endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 16 Acute lymphoblastic leukemia(4;1.7e-08)|all_hematologic(4;8.82e-05) CATCAATGATTACCAGGTAAT 0.393000 6 107 0 0 1 0 0 MYO15A 51168 broad.mit.edu 37 17 18064731 18064731 + Missense_Mutation SNP G G A TCGA-DU-8166-01A-11D-2253-08 TCGA-DU-8166-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae60b340-7cc9-4ebd-85a7-dc2ec942782c c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a g.chr17:18064731G>A ENST00000205890.5 + 57 9825 c.9487G>A c.(9487-9489)Gtg>Atg p.V3163M MYO15A_ENST00000418233.3_Missense_Mutation_p.V427M|MYO15A_ENST00000451725.2_Missense_Mutation_p.V55M NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 3163 MyTH4 2.|Tail. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) CCTCCAAGACGTGAGCCGGAC 0.632000 12 130 0 0 1 0 0 SLC39A14 23516 broad.mit.edu 37 8 22273631 22273631 + Missense_Mutation SNP C C T TCGA-DU-8166-01A-11D-2253-08 TCGA-DU-8166-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae60b340-7cc9-4ebd-85a7-dc2ec942782c c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a g.chr8:22273631C>T ENST00000381237.1 + 7 1104 c.985C>T c.(985-987)Cgc>Tgc p.R329C SLC39A14_ENST00000359741.5_Missense_Mutation_p.R329C|SLC39A14_ENST00000289952.5_Missense_Mutation_p.R329C|SLC39A14_ENST00000240095.6_Missense_Mutation_p.R329C NM_001128431.2 NP_001121903.1 Q15043 S39AE_HUMAN solute carrier family 39 (zinc transporter), member 14 329 endoplasmic reticulum|Golgi apparatus|integral to membrane|lamellipodium|plasma membrane zinc ion transmembrane transporter activity NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1) 12 Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731) GAAAGGTGTCCGCTACTCTGA 0.582000 4 66 0 0 1 0 0 ZNF41 7592 broad.mit.edu 37 X 47315320 47315320 + Splice_Site SNP C C A TCGA-DU-8166-01A-11D-2253-08 TCGA-DU-8166-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae60b340-7cc9-4ebd-85a7-dc2ec942782c c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a g.chrX:47315320C>A ENST00000377065.4 - 4 934 c.295_splice c.e4+1 p.G99_splice ZNF41_ENST00000313116.7_Splice_Site_p.G99_splice|ZNF41_ENST00000397050.2_Splice_Site_p.G109_splice|ZNF41_ENST00000465311.1_5'UTR NM_153380.2 NP_700359.1 P51814 ZNF41_HUMAN zinc finger protein 41 141 KRAB. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2) 24 all_lung(315;0.000129) GCTCACTCACCTGAACAGCTC 0.522000 8 74 0.0477658 0.0485619 1 1 0 VPS18 57617 broad.mit.edu 37 15 41193044 41193044 + Silent SNP G G A TCGA-DU-8166-01A-11D-2253-08 TCGA-DU-8166-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae60b340-7cc9-4ebd-85a7-dc2ec942782c c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a g.chr15:41193044G>A ENST00000220509.5 + 4 2367 c.2028G>A c.(2026-2028)ccG>ccA p.P676P VPS18_ENST00000558474.1_Intron NM_020857.2 NP_065908.1 Q9P253 VPS18_HUMAN vacuolar protein sorting 18 homolog (S. cerevisiae) 676 endosome organization|lysosome organization|protein transport HOPS complex|late endosome membrane|lysosomal membrane metal ion binding|protein binding autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 28 all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164) GTGGCCGGCCGGACTCACTAC 0.647000 4 145 0 0 1 0 0 KRT16P2 0 broad.mit.edu 37 17 16734855 16734855 + RNA SNP C C T rs688852 by1000genomes TCGA-DU-8166-01A-11D-2253-08 TCGA-DU-8166-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae60b340-7cc9-4ebd-85a7-dc2ec942782c c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a g.chr17:16734855C>T ENST00000579062.1 - 0 460 p.R183Q(1) CACAGTCTGCCGCAGGGCCAG 0.632000 5 44 0 0 1 0 0 ARHGAP32 9743 broad.mit.edu 37 11 128840324 128840324 + Missense_Mutation SNP C C T TCGA-DU-8166-01A-11D-2253-08 TCGA-DU-8166-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae60b340-7cc9-4ebd-85a7-dc2ec942782c c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a g.chr11:128840324C>T ENST00000310343.9 - 22 4741 c.4742G>A c.(4741-4743)cGg>cAg p.R1581Q ARHGAP32_ENST00000527272.1_Missense_Mutation_p.R1232Q|ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.R1232Q NM_001142685.1 NP_001136157.1 A7KAX9 RHG32_HUMAN Rho GTPase activating protein 32 1581 Interaction with GAB2. cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding p.R1581L(1)|p.R1232L(1) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3) 60 CTGCACTCTCCGGATGGTAGG 0.552000 24 60 0 0 1 0 0 SIN3B 23309 broad.mit.edu 37 19 16973238 16973238 + Silent SNP C C T rs150062565 byFrequency TCGA-DU-8166-01A-11D-2253-08 TCGA-DU-8166-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae60b340-7cc9-4ebd-85a7-dc2ec942782c c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a g.chr19:16973238C>T ENST00000379803.1 + 9 1148 c.1134C>T c.(1132-1134)agC>agT p.S378S SIN3B_ENST00000248054.5_Silent_p.S378S NM_015260.2 NP_056075.1 O75182 SIN3B_HUMAN SIN3 transcription regulator family member B 378 Interaction with NCOR1 (By similarity). cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm protein binding endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 26 CACCCATGAGCGACAGATCCG 0.517000 4 95 0 0 1 0 0 KIF1A 547 broad.mit.edu 37 2 241683359 241683359 + Splice_Site SNP C C T TCGA-DU-8166-01A-11D-2253-08 TCGA-DU-8166-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae60b340-7cc9-4ebd-85a7-dc2ec942782c c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a g.chr2:241683359C>T ENST00000498729.2 - 33 3830 c.3584_splice c.e33+1 p.S1195_splice KIF1A_ENST00000320389.7_Splice_Site_p.S1094_splice NM_001244008.1 NP_001230937.1 Q12756 KIF1A_HUMAN kinesin family member 1A 1094 anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 66 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) GGGCGCTAACCTGAGCACGTC 0.592000 10 75 0 0 1 0 0 IGF1R 3480 broad.mit.edu 37 15 99456347 99456347 + Missense_Mutation SNP A A G rs45481994 TCGA-DU-8166-01A-11D-2253-08 TCGA-DU-8166-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae60b340-7cc9-4ebd-85a7-dc2ec942782c c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a g.chr15:99456347A>G ENST00000268035.6 + 8 2275 c.1664A>G c.(1663-1665)gAc>gGc p.D555G IGF1R_ENST00000558762.1_Missense_Mutation_p.D555G NM_000875.3 NP_000866.1 P08069 IGF1R_HUMAN insulin-like growth factor 1 receptor 555 Fibronectin type-III 1. anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization microsome ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277) GTGGACGTGGACCTCCCGCCC 0.537000 4 43 0 0 1 0 0 EEF1B2 1933 broad.mit.edu 37 2 207025358 207025358 + Missense_Mutation SNP A A G TCGA-DU-8166-01A-11D-2253-08 TCGA-DU-8166-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae60b340-7cc9-4ebd-85a7-dc2ec942782c c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a g.chr2:207025358A>G ENST00000392222.2 + 2 502 c.127A>G c.(127-129)Agc>Ggc p.S43G EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G|EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G NM_001959.3 NP_001950.1 P24534 EF1B_HUMAN eukaryotic translation elongation factor 1 beta 2 43 GST C-terminal. cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity p.S43G(4) breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6) 16 AGCCGTGTCCAGCCCACCGCC 0.468000 5 110 0 0 1 0 0 TTLL9 164395 broad.mit.edu 37 20 30486368 30486368 + Splice_Site SNP A A C TCGA-DU-8166-01A-11D-2253-08 TCGA-DU-8166-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae60b340-7cc9-4ebd-85a7-dc2ec942782c c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a g.chr20:30486368A>C ENST00000375938.4 + 4 459 c.206_splice c.e4+1 p.D69_splice TTLL9_ENST00000375921.2_Splice_Site_p.D19_splice|TTLL9_ENST00000310998.4_Splice_Site_p.D19_splice|TTLL9_ENST00000375934.4_Splice_Site_p.D51_splice|TTLL9_ENST00000375922.4_Splice_Site_p.D19_splice|TTLL9_ENST00000535842.1_Splice_Site_p.D69_splice Q3SXZ7 TTLL9_HUMAN tubulin tyrosine ligase-like family, member 9 69 TTL. protein modification process cilium|microtubule|microtubule basal body ATP binding|tubulin-tyrosine ligase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 26 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) GAAGTGAAGGAGTAAGACCCT 0.562000 23 35 0 0 1 0 0 GGT1 2678 broad.mit.edu 37 22 25016936 25016936 + Missense_Mutation SNP C C T TCGA-DU-8166-01A-11D-2253-08 TCGA-DU-8166-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae60b340-7cc9-4ebd-85a7-dc2ec942782c c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a g.chr22:25016936C>T ENST00000400382.1 + 9 1387 c.632C>T c.(631-633)cCg>cTg p.P211L GGT1_ENST00000400380.1_Missense_Mutation_p.P211L|GGT1_ENST00000466310.1_Intron|GGT1_ENST00000248923.4_Missense_Mutation_p.P211L|GGT1_ENST00000400383.1_Missense_Mutation_p.P211L|GGT1_ENST00000406383.2_Missense_Mutation_p.P211L P19440 GGT1_HUMAN gamma-glutamyltransferase 1 211 glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity|protein binding breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 40 Glutathione(DB00143) CTGACCCTGCCGCAGCTGGCT 0.647000 3 50 0 0 1 0 0 NCOR1 9611 broad.mit.edu 37 17 15943763 15943763 + Missense_Mutation SNP G G C TCGA-DU-8166-01A-11D-2253-08 TCGA-DU-8166-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae60b340-7cc9-4ebd-85a7-dc2ec942782c c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a g.chr17:15943763G>C ENST00000268712.3 - 43 6982 c.6725C>G c.(6724-6726)aCt>aGt p.T2242S NCOR1_ENST00000395857.3_Missense_Mutation_p.T826S|NCOR1_ENST00000395851.1_Missense_Mutation_p.T2139S|AC002553.1_ENST00000442828.1_Intron NM_006311.3 NP_006302.2 O75376 NCOR1_HUMAN nuclear receptor corepressor 1 2242 ID2 (By similarity).|Interaction with C1D (By similarity). cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10) 107 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) ACCTGACGTAGTAACTGCTGG 0.358000 3 51 0 0 1 0 0 SLC39A12 221074 broad.mit.edu 37 10 18276464 18276464 + Missense_Mutation SNP A A G TCGA-DU-8166-01A-11D-2253-08 TCGA-DU-8166-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae60b340-7cc9-4ebd-85a7-dc2ec942782c c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a g.chr10:18276464A>G ENST00000377369.2 + 7 1426 c.1153A>G c.(1153-1155)Aca>Gca p.T385A SLC39A12_ENST00000377374.4_Missense_Mutation_p.T385A|SLC39A12_ENST00000539911.1_Missense_Mutation_p.T251A|SLC39A12_ENST00000377371.3_Missense_Mutation_p.T385A NM_001145195.1 NP_001138667.1 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), member 12 385 zinc ion transport integral to membrane metal ion transmembrane transporter activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 CATGCTGGGGACAGCGCTGGT 0.557000 7 86 0 0 1 0 0 LUM 4060 broad.mit.edu 37 12 91502163 91502163 + Missense_Mutation SNP T T A TCGA-DU-8166-01A-11D-2253-08 TCGA-DU-8166-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae60b340-7cc9-4ebd-85a7-dc2ec942782c c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a g.chr12:91502163T>A ENST00000266718.4 - 2 1048 c.594A>T c.(592-594)agA>agT p.R198S LUM_ENST00000548071.1_Intron NM_002345.3 NP_002336.1 P51884 LUM_HUMAN lumican 198 collagen fibril organization|visual perception extracellular space|fibrillar collagen collagen binding|extracellular matrix structural constituent central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 24 CAGAAGGCAGTCTGGCTATCT 0.423000 8 160 0 0 1 0 0 ARHGAP18 93663 broad.mit.edu 37 6 129959563 129959563 + Silent SNP A A T TCGA-DU-8166-01A-11D-2253-08 TCGA-DU-8166-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae60b340-7cc9-4ebd-85a7-dc2ec942782c c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a g.chr6:129959563A>T ENST00000368149.2 - 3 616 c.528T>A c.(526-528)gcT>gcA p.A176A NM_033515.2 NP_277050.2 Q8N392 RHG18_HUMAN Rho GTPase activating protein 18 176 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3) 18 OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074) CTCTCTGTTGAGCAAATATGT 0.388000 5 106 0 0 1 0 0 WBSCR17 64409 broad.mit.edu 37 7 70886066 70886066 + Missense_Mutation SNP G G A TCGA-DU-8166-01A-11D-2253-08 TCGA-DU-8166-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae60b340-7cc9-4ebd-85a7-dc2ec942782c c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a g.chr7:70886066G>A ENST00000333538.5 + 5 1571 c.937G>A c.(937-939)Gcc>Acc p.A313T WBSCR17_ENST00000498380.2_3'UTR NM_022479.1 NP_071924.1 Q6IS24 GLTL3_HUMAN Williams-Beuren syndrome chromosome region 17 313 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding p.A313S(1) NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) CTGGTGGGACGCCGGAGACCC 0.597000 10 33 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100683779 100683779 + Missense_Mutation SNP C C T TCGA-DU-8166-01A-11D-2253-08 TCGA-DU-8166-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae60b340-7cc9-4ebd-85a7-dc2ec942782c c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a g.chr7:100683779C>T ENST00000306151.4 + 3 9146 c.9082C>T c.(9082-9084)Cct>Tct p.P3028S NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 3028 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CAGTTCCTCTCCTACAACTGC 0.527000 9 618 0 0 1 0 0 RNPEP 6051 broad.mit.edu 37 1 201972432 201972432 + Silent SNP G G T TCGA-DU-8166-01A-11D-2253-08 TCGA-DU-8166-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae60b340-7cc9-4ebd-85a7-dc2ec942782c c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a g.chr1:201972432G>T ENST00000295640.4 + 9 1537 c.1494G>T c.(1492-1494)ggG>ggT p.G498G RNPEP_ENST00000471105.1_3'UTR|RNPEP_ENST00000367286.3_Silent_p.G459G|RP11-465N4.4_ENST00000419190.1_RNA NM_020216.3 NP_064601.3 Q9H4A4 AMPB_HUMAN arginyl aminopeptidase (aminopeptidase B) 498 leukotriene biosynthetic process epoxide hydrolase activity|zinc ion binding breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005) TCTCCCCTGGGGACTCACTCA 0.562000 22 53 1.42536e-11 1.61012e-11 1 1 0 UBBP4 0 broad.mit.edu 37 17 21730847 21730847 + Missense_Mutation SNP G G T TCGA-DU-8166-01A-11D-2253-08 TCGA-DU-8166-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae60b340-7cc9-4ebd-85a7-dc2ec942782c c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a g.chr17:21730847G>T ENST00000584755.1 + 2 546 c.149G>T c.(148-150)cGg>cTg p.R50L UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.R50L|UBBP4_ENST00000583708.1_Intron endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GGCAAGCAGCGGGAAGATGGC 0.522000 3 43 0.115264 0.115264 1 1 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-DU-8166-01A-11D-2253-08 TCGA-DU-8166-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae60b340-7cc9-4ebd-85a7-dc2ec942782c c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 38 57 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577121 7577121 + Missense_Mutation SNP G G A rs121913343 TCGA-DU-8166-01A-11D-2253-08 TCGA-DU-8166-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae60b340-7cc9-4ebd-85a7-dc2ec942782c c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a g.chr17:7577121G>A ENST00000420246.2 - 8 949 c.817C>T c.(817-819)Cgt>Tgt p.R273C TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273C NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 273 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GCACAAACACGCACCTCAAAG 0.542000 R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID) 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 19 3 0 0 1 0 0 SEZ6L 23544 broad.mit.edu 37 22 26707829 26707829 + Missense_Mutation SNP A A G TCGA-DU-8166-01A-11D-2253-08 TCGA-DU-8166-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae60b340-7cc9-4ebd-85a7-dc2ec942782c c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a g.chr22:26707829A>G ENST00000529632.2 + 8 1973 c.1777A>G c.(1777-1779)Acc>Gcc p.T593A SEZ6L_ENST00000343706.4_Missense_Mutation_p.T593A|SEZ6L_ENST00000360929.3_Missense_Mutation_p.T593A|SEZ6L_ENST00000404234.3_Missense_Mutation_p.T593A|SEZ6L_ENST00000402979.1_Missense_Mutation_p.T366A|SEZ6L_ENST00000403121.1_Missense_Mutation_p.T366A|SEZ6L_ENST00000248933.6_Missense_Mutation_p.T593A NM_001184774.1|NM_001184775.1|NM_001184777.1 NP_001171703.1|NP_001171704.1|NP_001171706.1 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 593 Sushi 2. endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 AGTGGAGTTCACCTGCGACCC 0.562000 84 170 0 0 1 0 0 ATRX 546 broad.mit.edu 37 X 76940087 76940087 + Splice_Site SNP T T C TCGA-DU-8166-01A-11D-2253-08 TCGA-DU-8166-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae60b340-7cc9-4ebd-85a7-dc2ec942782c c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a g.chrX:76940087T>C ENST00000373344.5 - 9 877 c.e9-2 ATRX_ENST00000480283.1_Splice_Site|ATRX_ENST00000395603.3_Splice_Site NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) GCACACCACCTGAAATGTTTT 0.333000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 44 94 0 0 1 0 0 PCNT 5116 broad.mit.edu 37 21 47754527 47754527 + Missense_Mutation SNP A A G TCGA-DU-8166-01A-11D-2253-08 TCGA-DU-8166-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae60b340-7cc9-4ebd-85a7-dc2ec942782c c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a g.chr21:47754527A>G ENST00000359568.5 + 3 591 c.484A>G c.(484-486)Agt>Ggt p.S162G PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 162 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) GTTCACAGTCAGTGACCACCC 0.552000 4 135 0 0 1 0 0 PIAS4 51588 broad.mit.edu 37 19 4012979 4012979 + Missense_Mutation SNP G G A TCGA-DU-8166-01A-11D-2253-08 TCGA-DU-8166-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae60b340-7cc9-4ebd-85a7-dc2ec942782c c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a g.chr19:4012979G>A ENST00000262971.2 + 2 201 c.86G>A c.(85-87)cGg>cAg p.R29Q NM_015897.2 NP_056981.2 Q8N2W9 PIAS4_HUMAN protein inhibitor of activated STAT, 4 29 SAP. positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|PML body DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3) 17 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18) TTCGTGGGCCGGAGTAAGAGT 0.552000 3 87 0 0 1 0 0 CD109 135228 broad.mit.edu 37 6 74472143 74472143 + Silent SNP G G A TCGA-DU-8166-01A-11D-2253-08 TCGA-DU-8166-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae60b340-7cc9-4ebd-85a7-dc2ec942782c c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a g.chr6:74472143G>A ENST00000437994.2 + 8 1226 c.795G>A c.(793-795)acG>acA p.T265T CD109_ENST00000287097.5_Silent_p.T265T|CD109_ENST00000422508.2_Silent_p.T188T NM_001159587.1|NM_133493.3 NP_001153059.1|NP_598000.2 Q6YHK3 CD109_HUMAN CD109 molecule 265 anchored to membrane|extracellular space|plasma membrane serine-type endopeptidase inhibitor activity NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 GAGACGTAACGCTTACATTTT 0.294000 5 37 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 215987173 215987173 + Missense_Mutation SNP A A G TCGA-DU-8166-01A-11D-2253-08 TCGA-DU-8166-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae60b340-7cc9-4ebd-85a7-dc2ec942782c c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a g.chr1:215987173A>G ENST00000366943.2 - 49 10030 c.9644T>C c.(9643-9645)gTt>gCt p.V3215A USH2A_ENST00000307340.3_Missense_Mutation_p.V3215A O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 3215 maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) AGAATTCAGAACAAACGGGAT 0.433000 HNSCC(13;0.011) 7 60 0 0 1 0 0 WWC3 55841 broad.mit.edu 37 X 10090693 10090693 + Missense_Mutation SNP G G T TCGA-DU-8166-01A-11D-2253-08 TCGA-DU-8166-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae60b340-7cc9-4ebd-85a7-dc2ec942782c c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a g.chrX:10090693G>T ENST00000380861.4 + 12 2056 c.1665G>T c.(1663-1665)ttG>ttT p.L555F WWC3_ENST00000454666.1_Missense_Mutation_p.L555F NM_015691.3 NP_056506.2 Q9ULE0 WWC3_HUMAN WWC family member 3 555 NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 52 CCAAGAGGTTGGAGAGGAGGG 0.552000 17 478 3.51602e-12 4.04674e-12 1 1 0 PAX4 5078 broad.mit.edu 37 7 127251252 127251252 + Missense_Mutation SNP G G A TCGA-DU-8166-01A-11D-2253-08 TCGA-DU-8166-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae60b340-7cc9-4ebd-85a7-dc2ec942782c c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a g.chr7:127251252G>A ENST00000341640.2 - 9 1103 c.898C>T c.(898-900)Ccc>Tcc p.P300S PAX4_ENST00000338516.3_3'UTR|PAX4_ENST00000463946.1_Missense_Mutation_p.P298S|PAX4_ENST00000378740.2_Intron NM_006193.2 NP_006184.2 O43316 PAX4_HUMAN paired box 4 311 Transcription repression. cell differentiation|endocrine pancreas development|organ morphogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 GGCTGTGGGGGCAAGTGGCCT 0.572000 3 3 0 0 1 0 0 RANBP9 10048 broad.mit.edu 37 6 13711709 13711709 + Missense_Mutation SNP G G T TCGA-DU-8166-01A-11D-2253-08 TCGA-DU-8166-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae60b340-7cc9-4ebd-85a7-dc2ec942782c c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a g.chr6:13711709G>T ENST00000011619.3 - 1 87 c.29C>A c.(28-30)cCg>cAg p.P10Q NM_005493.2 NP_005484.2 Q96S59 RANB9_HUMAN RAN binding protein 9 10 Poly-Pro. axon guidance|microtubule nucleation|protein complex assembly cytosol|microtubule associated complex|nucleus Ran GTPase binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1) 16 Breast(50;0.00669)|Ovarian(93;0.0634) all_hematologic(90;0.117) Epithelial(50;0.223) ctgctgctgcggcggcggcgg 0.761000 2 5 6.4e-05 6.84912e-05 1 1 0 EEF1B2 1933 broad.mit.edu 37 2 207025366 207025366 + Silent SNP G G A TCGA-DU-8166-01A-11D-2253-08 TCGA-DU-8166-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae60b340-7cc9-4ebd-85a7-dc2ec942782c c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a g.chr2:207025366G>A ENST00000392222.2 + 2 510 c.135G>A c.(133-135)ccG>ccA p.P45P EEF1B2_ENST00000392221.1_Silent_p.P45P|EEF1B2_ENST00000236957.5_Silent_p.P45P NM_001959.3 NP_001950.1 P24534 EF1B_HUMAN eukaryotic translation elongation factor 1 beta 2 45 GST C-terminal. cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity p.P45P(5) breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6) 16 CCAGCCCACCGCCTGCCGACT 0.448000 5 104 0 0 1 0 0 SPP2 6694 broad.mit.edu 37 2 234978646 234978646 + Missense_Mutation SNP G G T TCGA-DU-8166-01A-11D-2253-08 TCGA-DU-8166-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae60b340-7cc9-4ebd-85a7-dc2ec942782c c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a g.chr2:234978646G>T ENST00000168148.3 + 7 713 c.625G>T c.(625-627)Gac>Tac p.D209Y SPP2_ENST00000373368.1_Missense_Mutation_p.D209Y NM_006944.2 NP_008875.1 Q13103 SPP24_HUMAN secreted phosphoprotein 2, 24kDa 209 bone remodeling|skeletal system development extracellular region endopeptidase inhibitor activity breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1) 12 Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182) Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846) AATAAATACTGACTTTGAGTA 0.443000 3 57 0.0215528 0.0222834 1 1 0 TRIM15 89870 broad.mit.edu 37 6 30138295 30138295 + Missense_Mutation SNP T T C TCGA-DU-8166-01A-11D-2253-08 TCGA-DU-8166-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae60b340-7cc9-4ebd-85a7-dc2ec942782c c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a g.chr6:30138295T>C ENST00000376694.4 + 5 1218 c.749T>C c.(748-750)tTt>tCt p.F250S TRIM15_ENST00000376688.1_Intron NM_033229.2 NP_150232.2 Q9C019 TRI15_HUMAN tripartite motif containing 15 250 mesodermal cell fate determination intracellular zinc ion binding large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1) 14 ATGAAGACTTTTGTGAGTCCT 0.458000 7 63 0 0 1 0 0 ARHGAP19-SLIT1 0 broad.mit.edu 37 10 98924609 98924609 + Missense_Mutation SNP T T C TCGA-DU-8166-01A-11D-2253-08 TCGA-DU-8166-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae60b340-7cc9-4ebd-85a7-dc2ec942782c c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a g.chr10:98924609T>C ENST00000453547.2 - 12 1512 c.1513A>G c.(1513-1515)Atg>Gtg p.M505V SLIT1_ENST00000266058.4_Missense_Mutation_p.N79S|SLIT1_ENST00000371070.4_Missense_Mutation_p.N79S|SLIT1_ENST00000371041.3_Missense_Mutation_p.N79S|SLIT1_ENST00000456008.2_5'UTR CGCAAAGTCATTCTTATGGAT 0.622000 84 85 0 0 1 0 0 CXorf48 54967 broad.mit.edu 37 X 134303695 134303695 + Silent SNP G G C TCGA-DU-8166-01A-11D-2253-08 TCGA-DU-8166-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae60b340-7cc9-4ebd-85a7-dc2ec942782c c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a g.chrX:134303695G>C ENST00000344129.2 - 2 328 c.102C>G c.(100-102)acC>acG p.T34T CXorf48_ENST00000276241.6_Silent_p.T34T NM_017863.2 NP_060333.1 Q8WUE5 CX048_HUMAN chromosome X open reading frame 48 34 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3) 5 Acute lymphoblastic leukemia(192;0.000127) TTGTCAACTGGGTGTCACCTA 0.433000 16 31 0 0 1 0 0 HIST1H3E 8353 broad.mit.edu 37 6 26225733 26225733 + Silent SNP C C T TCGA-DU-8166-01A-11D-2253-08 TCGA-DU-8166-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae60b340-7cc9-4ebd-85a7-dc2ec942782c c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a g.chr6:26225733C>T ENST00000360408.1 + 1 351 c.351C>T c.(349-351)cgC>cgT p.R117R NM_003532.2 NP_003523.1 P68431 H31_HUMAN histone cluster 1, H3e 117 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding endometrium(1)|large_intestine(1)|lung(5)|skin(1) 8 all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351) ATGCCAAACGCGTGACCATCA 0.557000 OREG0017240 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 105 0 0 1 0 0 RP11-640M9.2 0 broad.mit.edu 37 1 144598726 144598726 + RNA SNP A A C TCGA-DU-8166-01A-11D-2253-08 TCGA-DU-8166-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae60b340-7cc9-4ebd-85a7-dc2ec942782c c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a g.chr1:144598726A>C ENST00000419820.1 + 0 654 CATTCGGTGCACCAAGAGCAA 0.572000 3 33 0 0 1 0 0 MCF2 4168 broad.mit.edu 37 X 138689854 138689854 + Missense_Mutation SNP T T G TCGA-DU-8166-01A-11D-2253-08 TCGA-DU-8166-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae60b340-7cc9-4ebd-85a7-dc2ec942782c c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a g.chrX:138689854T>G ENST00000520602.1 - 15 1951 c.1666A>C c.(1666-1668)Aag>Cag p.K556Q MCF2_ENST00000414978.1_Missense_Mutation_p.K556Q|MCF2_ENST00000370573.4_Missense_Mutation_p.K496Q|MCF2_ENST00000370576.4_Missense_Mutation_p.K496Q|MCF2_ENST00000536274.1_Missense_Mutation_p.K457Q|MCF2_ENST00000338585.6_Missense_Mutation_p.K512Q|MCF2_ENST00000519895.1_Missense_Mutation_p.K572Q|MCF2_ENST00000483690.1_5'UTR|MCF2_ENST00000370578.4_Missense_Mutation_p.K641Q P10911 MCF2_HUMAN MCF.2 cell line derived transforming sequence 496 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|membrane|membrane fraction protein binding|Rho guanyl-nucleotide exchange factor activity NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1) 62 Acute lymphoblastic leukemia(192;0.000127) GGATACTTCTTTAAAACATCC 0.373000 4 53 0 0 1 0 0 PAAF1 80227 broad.mit.edu 37 11 73610227 73610227 + Missense_Mutation SNP G G T TCGA-DU-8166-01A-11D-2253-08 TCGA-DU-8166-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae60b340-7cc9-4ebd-85a7-dc2ec942782c c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a g.chr11:73610227G>T ENST00000544909.1 + 3 579 c.322G>T c.(322-324)Ggt>Tgt p.G108C PAAF1_ENST00000535604.1_5'UTR|PAAF1_ENST00000536003.1_Missense_Mutation_p.G90C|PAAF1_ENST00000541951.1_5'UTR|PAAF1_ENST00000543079.1_3'UTR|PAAF1_ENST00000310571.3_Missense_Mutation_p.G107C|PAAF1_ENST00000544552.1_Missense_Mutation_p.G90C|PAAF1_ENST00000376384.5_Missense_Mutation_p.G90C Q9BRP4 PAAF1_HUMAN proteasomal ATPase-associated factor 1 107 interspecies interaction between organisms proteasome complex protein binding breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Breast(11;7.42e-05) AGGAGGTCTTGGTGTGTCTTC 0.388000 3 56 2.56e-06 2.78857e-06 1 1 0 RPGRIP1 57096 broad.mit.edu 37 14 21770676 21770676 + Missense_Mutation SNP C C G TCGA-DU-8166-01A-11D-2253-08 TCGA-DU-8166-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae60b340-7cc9-4ebd-85a7-dc2ec942782c c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a g.chr14:21770676C>G ENST00000206660.6 + 4 520 c.520C>G c.(520-522)Cct>Gct p.P174A RPGRIP1_ENST00000556336.1_Missense_Mutation_p.P174A|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.P174A|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.P174A Q96KN7 RPGR1_HUMAN retinitis pigmentosa GTPase regulator interacting protein 1 174 response to stimulus|visual perception cilium breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1) 39 all_cancers(95;0.0017) all_cancers(140;0.0973) Epithelial(56;6.24e-07)|all cancers(55;6.56e-06) GBM - Glioblastoma multiforme(265;0.00888) CTACACAGCCCCTCCATCGTT 0.468000 2 10 0 0 1 0 0 CHPF 79586 broad.mit.edu 37 2 220406861 220406861 + Missense_Mutation SNP G G A TCGA-DU-8166-01A-11D-2253-08 TCGA-DU-8166-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae60b340-7cc9-4ebd-85a7-dc2ec942782c c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a g.chr2:220406861G>A ENST00000243776.6 - 2 613 c.365C>T c.(364-366)gCg>gTg p.A122V CHPF_ENST00000373891.2_Missense_Mutation_p.A122V|CHPF_ENST00000535926.1_5'UTR NM_024536.5 NP_078812.2 Q8IZ52 CHSS2_HUMAN chondroitin polymerizing factor 122 Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1) 21 Renal(207;0.0183) Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802) GGTCAGCACCGCCACCAGCAG 0.677000 OREG0015229 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 2 4 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21826380 21826380 + Missense_Mutation SNP G G A TCGA-DU-8166-01A-11D-2253-08 TCGA-DU-8166-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae60b340-7cc9-4ebd-85a7-dc2ec942782c c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a g.chr7:21826380G>A ENST00000328843.6 + 60 9788 c.9757G>A c.(9757-9759)Gga>Aga p.G3253R DNAH11_ENST00000409508.3_Missense_Mutation_p.G3246R Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 3253 Stalk (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 AGTCTTCATGGGAAAGGTATC 0.453000 Kartagener syndrome 7 247 0 0 1 0 0 OR56A1 120796 broad.mit.edu 37 11 6048480 6048480 + Missense_Mutation SNP C C A TCGA-DU-8166-01A-11D-2253-08 TCGA-DU-8166-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae60b340-7cc9-4ebd-85a7-dc2ec942782c c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a g.chr11:6048480C>A ENST00000316650.5 - 1 491 c.455G>T c.(454-456)aGt>aTt p.S152I NM_001001917.2 NP_001001917.2 Q8NGH5 O56A1_HUMAN olfactory receptor, family 56, subfamily A, member 1 152 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2) 33 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AATGAAGACACTAGCTTTGGC 0.493000 7 106 0.00621372 0.00653512 1 1 0 PTPN21 11099 broad.mit.edu 37 14 88946264 88946264 + Missense_Mutation SNP G G A TCGA-DU-8166-01A-11D-2253-08 TCGA-DU-8166-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae60b340-7cc9-4ebd-85a7-dc2ec942782c c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a g.chr14:88946264G>A ENST00000556564.1 - 13 1795 c.1511C>T c.(1510-1512)tCg>tTg p.S504L PTPN21_ENST00000328736.3_Missense_Mutation_p.S504L NM_007039.3 NP_008970.2 Q16825 PTN21_HUMAN protein tyrosine phosphatase, non-receptor type 21 504 cytoplasm|cytoskeleton binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GGCCGCTGGCGAGGGGAGCTG 0.701000 4 86 0 0 1 0 0 SEMA4D 10507 broad.mit.edu 37 9 91994102 91994102 + Silent SNP C C T TCGA-DU-8166-01A-11D-2253-08 TCGA-DU-8166-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae60b340-7cc9-4ebd-85a7-dc2ec942782c c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a g.chr9:91994102C>T ENST00000450295.1 - 16 2882 c.2106G>A c.(2104-2106)gcG>gcA p.A702A SEMA4D_ENST00000343780.4_Intron|SEMA4D_ENST00000438547.2_Silent_p.A702A|SEMA4D_ENST00000455551.2_Intron|SEMA4D_ENST00000420987.1_Intron|SEMA4D_ENST00000339861.4_Intron|SEMA4D_ENST00000422704.2_Silent_p.A702A|SEMA4D_ENST00000356444.2_Silent_p.A702A Q92854 SEM4D_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D 702 anti-apoptosis|axon guidance|cell adhesion|immune response integral to membrane|plasma membrane receptor activity|receptor binding NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 34 TGCCGGTGGGCGCAGGCTTGG 0.617000 4 55 0 0 1 0 0 GNPAT 8443 broad.mit.edu 37 1 231403559 231403559 + Missense_Mutation SNP C C T TCGA-DU-8166-01A-11D-2253-08 TCGA-DU-8166-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae60b340-7cc9-4ebd-85a7-dc2ec942782c c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a g.chr1:231403559C>T ENST00000366647.4 + 9 1358 c.1189C>T c.(1189-1191)Cgg>Tgg p.R397W GNPAT_ENST00000366646.3_Missense_Mutation_p.R336W NM_014236.3 NP_055051.1 O15228 GNPAT_HUMAN glyceronephosphate O-acyltransferase 397 ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis peroxisomal matrix|peroxisomal membrane glycerone-phosphate O-acyltransferase activity breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1) 23 Breast(184;0.0871) all_cancers(173;0.2)|Prostate(94;0.183) GCTTCAGAACCGGCCATCCAT 0.458000 3 52 0 0 1 0 0 ZNF567 163081 broad.mit.edu 37 19 37210750 37210750 + Missense_Mutation SNP G G A TCGA-DU-8166-01A-11D-2253-08 TCGA-DU-8166-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae60b340-7cc9-4ebd-85a7-dc2ec942782c c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a g.chr19:37210750G>A ENST00000585696.1 + 3 2261 c.1031G>A c.(1030-1032)cGc>cAc p.R344H ZNF567_ENST00000536254.2_Missense_Mutation_p.R375H|ZNF567_ENST00000588311.1_Missense_Mutation_p.R344H|ZNF567_ENST00000360729.4_Missense_Mutation_p.R344H|ZNF567_ENST00000392163.2_Missense_Mutation_p.R344H|ZNF850_ENST00000589390.1_Intron Q8N184 ZN567_HUMAN zinc finger protein 567 375 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) AAGTCCTTCCGCCAGAAGACA 0.443000 6 75 0 0 1 0 0 TPRX1 284355 broad.mit.edu 37 19 48305133 48305133 + Missense_Mutation SNP C C T TCGA-DU-8166-01A-11D-2253-08 TCGA-DU-8166-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae60b340-7cc9-4ebd-85a7-dc2ec942782c c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a g.chr19:48305133C>T ENST00000535759.1 - 4 1425 c.1426G>A c.(1426-1428)Gat>Aat p.D476N TPRX1_ENST00000322175.3_Missense_Mutation_p.D379N|TPRX1_ENST00000543508.1_Missense_Mutation_p.D369N Q8N7U7 TPRX1_HUMAN tetra-peptide repeat homeobox 1 379 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1) 18 all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133) OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048) ATAGAGTCATCCCCTTCTTGG 0.512000 12 158 0 0 1 0 0 BCL2L15 440603 broad.mit.edu 37 1 114424577 114424577 + Missense_Mutation SNP T T C TCGA-DU-8166-01A-11D-2253-08 TCGA-DU-8166-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae60b340-7cc9-4ebd-85a7-dc2ec942782c c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a g.chr1:114424577T>C ENST00000393316.3 - 3 463 c.292A>G c.(292-294)Acc>Gcc p.T98A BCL2L15_ENST00000488450.1_5'UTR|AP4B1-AS1_ENST00000419536.1_RNA|BCL2L15_ENST00000393320.3_Intron|BCL2L15_ENST00000471267.1_Intron NM_001010922.2 NP_001010922.1 Q5TBC7 B2L15_HUMAN BCL2-like 15 98 apoptosis breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1) 9 Lung SC(450;0.184) all_cancers(81;3.95e-08)|all_epithelial(167;9.95e-08)|all_lung(203;1.31e-05)|Lung NSC(69;2.46e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GCACACCAGGTCTTGCTGAGA 0.468000 4 39 0 0 1 0 0 IGSF10 285313 broad.mit.edu 37 3 151164200 151164201 + Frame_Shift_Ins INS - - T TCGA-DU-8166-01A-11D-2253-08 TCGA-DU-8166-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae60b340-7cc9-4ebd-85a7-dc2ec942782c c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a g.chr3:151164200_151164201insT ENST00000282466.3 - 4 3567_3568 c.3568_3569insA c.(3568-3570)gacfs p.D1190fs NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 1190 cell differentiation|multicellular organismal development|ossification extracellular region p.M1190K(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TATAATAGTCATTGGTGGCTTG 0.396 20 155 --- --- --- --- CTD-2296D1.4 0 broad.mit.edu 37 5 7372948 7372950 + RNA DEL ACC ACC - TCGA-DU-8166-01A-11D-2253-08 TCGA-DU-8166-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae60b340-7cc9-4ebd-85a7-dc2ec942782c c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a g.chr5:7372948_7372950delACC ENST00000513219.1 - 0 202 taccatcattaccaccaccacca 0.507 4 2 --- --- --- --- ASCL4 121549 broad.mit.edu 37 12 108169421 108169421 + Frame_Shift_Del DEL C C - TCGA-DU-8166-01A-11D-2253-08 TCGA-DU-8166-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae60b340-7cc9-4ebd-85a7-dc2ec942782c c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a g.chr12:108169421delC ENST00000342331.4 + 1 1260 c.429delC c.(427-429)gtfs p.V143fs NM_203436.2 NP_982260.2 Q6XD76 ASCL4_HUMAN achaete-scute family bHLH transcription factor 4 142 regulation of transcription from RNA polymerase II promoter|skin development|transcription, DNA-dependent nucleus DNA binding breast(2)|central_nervous_system(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1) 13 CCGGCGCCGTCCCCCAGCGCA 0.721 2 4 --- --- --- --- OR11H12 440153 broad.mit.edu 37 14 19378063 19378063 + Frame_Shift_Del DEL C C - TCGA-DU-8166-01A-11D-2253-08 TCGA-DU-8166-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae60b340-7cc9-4ebd-85a7-dc2ec942782c c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a g.chr14:19378063delC ENST00000550708.1 + 1 542 c.470delC c.(469-471)gcfs p.A157fs NM_001013354.1|NM_001197287.1 NP_001013372.1|NP_001184216.1 B2RN74 O11HC_HUMAN olfactory receptor, family 11, subfamily H, member 12 157 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A157D(1) NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CATCTCTGTGCCAAACTGGTC 0.468 11 621 --- --- --- ---