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 EBF1 1879 broad.mit.edu 37 5 158158158 158158158 + Silent SNP G G A rs146276323 TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr5:158158158G>A ENST00000313708.6 - 11 1326 c.1044C>T c.(1042-1044)aaC>aaT p.N348N EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000517373.1_Silent_p.N340N|EBF1_ENST00000380654.4_Silent_p.N317N NM_024007.3 NP_076870.1 Q9UH73 COE1_HUMAN early B-cell factor 1 348 multicellular organismal development nucleus DNA binding|metal ion binding HMGA2/EBF1(2) breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 42 Renal(175;0.00196) Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TGGTGGGTTCGTTGAGCGCTG 0.448000 T HMGA2 lipoma 10 32 0 0 1 0 0 KDR 3791 broad.mit.edu 37 4 55961110 55961110 + Nonsense_Mutation SNP G G A TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr4:55961110G>A ENST00000263923.4 - 21 3125 c.2830C>T c.(2830-2832)Cga>Tga p.R944* NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 944 Protein kinase. angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity p.R944R(1) NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) TGACGGAATCGTGCCCCTTTG 0.433000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 31 61 0 0 1 0 0 SPEF2 79925 broad.mit.edu 37 5 35646854 35646854 + Missense_Mutation SNP G G A TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr5:35646854G>A ENST00000440995.2 + 5 671 c.671G>A c.(670-672)cGt>cAt p.R224H SPEF2_ENST00000356031.3_Missense_Mutation_p.R224H|SPEF2_ENST00000282469.6_Missense_Mutation_p.R224H|SPEF2_ENST00000509059.1_Missense_Mutation_p.R224H Q9C093 SPEF2_HUMAN sperm flagellar 2 224 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GCATCAAATCGTACTTTGAAA 0.333000 42 81 0 0 1 0 0 ZNF683 257101 broad.mit.edu 37 1 26691676 26691676 + Missense_Mutation SNP T T C TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr1:26691676T>C ENST00000436292.1 - 4 481 c.361A>G c.(361-363)Aag>Gag p.K121E ZNF683_ENST00000403843.1_Missense_Mutation_p.K121E|ZNF683_ENST00000374204.1_Missense_Mutation_p.K121E|ZNF683_ENST00000349618.3_Missense_Mutation_p.K121E Q8IZ20 ZN683_HUMAN zinc finger protein 683 121 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1) 15 all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233) GTGAATTTCTTGTCATCGGTG 0.577000 4 9 0 0 1 0 0 PTEN 5728 broad.mit.edu 37 10 89624301 89624301 + Missense_Mutation SNP G G T TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr10:89624301G>T ENST00000371953.3 + 1 1432 c.75G>T c.(73-75)ttG>ttT p.L25F NM_000314.4 NP_000305.3 P60484 PTEN_HUMAN phosphatase and tensin homolog 25 Phosphatase tensin-type. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.?(13)|p.L25fs*28(1)|p.L25F(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) ACTTAGACTTGACCTGTATCC 0.458000 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 38 28 1.30015e-28 1.44586e-28 1 1 0 EGFR 1956 broad.mit.edu 37 7 55260473 55260473 + Nonsense_Mutation SNP G G A TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr7:55260473G>A ENST00000275493.2 + 22 2817 c.2640G>A c.(2638-2640)tgG>tgA p.W880* EGFR_ENST00000455089.1_Nonsense_Mutation_p.W835*|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Nonsense_Mutation_p.W827* NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 880 Protein kinase. activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) CTATCAAGTGGATGGCATTGG 0.433000 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 44 1857 0 0 1 0 0 EPC2 26122 broad.mit.edu 37 2 149528637 149528637 + Silent SNP A A G TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr2:149528637A>G ENST00000258484.6 + 10 1435 c.1401A>G c.(1399-1401)acA>acG p.T467T NM_015630.3 NP_056445.3 Q52LR7 EPC2_HUMAN enhancer of polycomb homolog 2 (Drosophila) 467 chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.0516) GAATATCCACAGAACATGACC 0.383000 18 22 0 0 1 0 0 AC226119.5 0 broad.mit.edu 37 4 3952918 3952918 + RNA SNP T T G TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr4:3952918T>G ENST00000281228.8 - 0 189 FAM86EP_ENST00000313946.8_RNA TGACGGCGGGTGCTTCACACA 0.522000 4 47 0 0 1 0 0 IGSF1 3547 broad.mit.edu 37 X 130413285 130413285 + Silent SNP C C T TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chrX:130413285C>T ENST00000370904.1 - 16 2560 c.1650G>A c.(1648-1650)ggG>ggA p.G550G IGSF1_ENST00000370910.1_Silent_p.G550G|IGSF1_ENST00000370903.3_Silent_p.G559G|IGSF1_ENST00000361420.3_Silent_p.G559G Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 559 regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2) 78 GCATGGTGACCCCTTGAGCTG 0.617000 25 56 0 0 1 0 0 TRIM58 25893 broad.mit.edu 37 1 248039261 248039261 + Missense_Mutation SNP C C T TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr1:248039261C>T ENST00000366481.3 + 6 979 c.931C>T c.(931-933)Cgc>Tgc p.R311C OR2W3_ENST00000537741.1_5'UTR NM_015431.3 NP_056246.3 Q8NG06 TRI58_HUMAN tripartite motif containing 58 311 B30.2/SPRY. intracellular zinc ion binding p.R311C(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1) 63 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0286) OV - Ovarian serous cystadenocarcinoma(106;0.0319) CGCCGACCTGCGCAGTGTGCA 0.572000 3 64 0 0 1 0 0 CYP2S1 29785 broad.mit.edu 37 19 41703792 41703792 + Missense_Mutation SNP C C T rs148695011 TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr19:41703792C>T ENST00000310054.4 + 3 668 c.452C>T c.(451-453)gCg>gTg p.A151V CYP2S1_ENST00000542619.1_Intron NM_030622.6 NP_085125.1 Q96SQ9 CP2S1_HUMAN cytochrome P450, family 2, subfamily S, polypeptide 1 151 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2) 14 CTGATCCAGGCGGAGGCCCGG 0.622000 9 44 0 0 1 0 0 RPF1 80135 broad.mit.edu 37 1 84961976 84961976 + Missense_Mutation SNP C C T TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr1:84961976C>T ENST00000370654.5 + 8 946 c.931C>T c.(931-933)Cgt>Tgt p.R311C NM_025065.6 NP_079341.2 Q9H9Y2 RPF1_HUMAN ribosome production factor 1 homolog (S. cerevisiae) 311 Brix.|RNA-binding (By similarity). rRNA processing|translation nucleolus aminoacyl-tRNA ligase activity|ATP binding|rRNA binding breast(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(2)|prostate(1) 14 ACTTGGACCACGTTTTACCTT 0.328000 34 40 0 0 1 0 0 PARP10 84875 broad.mit.edu 37 8 145057683 145057683 + Missense_Mutation SNP G G A rs146697146 byFrequency TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr8:145057683G>A ENST00000313028.7 - 8 2168 c.2074C>T c.(2074-2076)Ccg>Tcg p.P692S PARP10_ENST00000525773.1_Missense_Mutation_p.P704S|PARP10_ENST00000524918.1_Missense_Mutation_p.P683S NM_032789.3 NP_116178.2 Q53GL7 PAR10_HUMAN poly (ADP-ribose) polymerase family, member 10 692 Glu-rich. Golgi apparatus|nucleolus NAD+ ADP-ribosyltransferase activity|nucleotide binding NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2) 27 all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GCCTCCAACGGGGGCTGCTCC 0.677000 6 23 0 0 1 0 0 IFT140 9742 broad.mit.edu 37 16 1568282 1568282 + Missense_Mutation SNP T T C TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr16:1568282T>C ENST00000426508.2 - 30 4480 c.4117A>G c.(4117-4119)Atc>Gtc p.I1373V IFT140_ENST00000361339.5_Missense_Mutation_p.I567V NM_014714.3 NP_055529.2 Q96RY7 IF140_HUMAN intraflagellar transport 140 homolog (Chlamydomonas) 1373 breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1) 53 Hepatocellular(780;0.219) CCGATGCGGATGGTGCTGTCC 0.602000 20 37 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141072598 141072598 + Missense_Mutation SNP A A C TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr2:141072598A>C ENST00000389484.3 - 83 13682 c.12711T>G c.(12709-12711)tgT>tgG p.C4237W NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 4237 EGF-like 10. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GCCAACAGTGACACCTCAAAT 0.383000 TSP Lung(27;0.18) 3 85 0 0 1 0 0 RPS4X 6191 broad.mit.edu 37 X 71493768 71493768 + Missense_Mutation SNP G G T TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chrX:71493768G>T ENST00000316084.6 - 5 519 c.415C>A c.(415-417)Ctg>Atg p.L139M RPS4X_ENST00000486733.1_5'UTR NM_001007.4 NP_000998.1 P62701 RS4X_HUMAN ribosomal protein S4, X-linked 139 endocrine pancreas development|positive regulation of cell proliferation|positive regulation of translation|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|polysome rRNA binding|structural constituent of ribosome NS(1)|large_intestine(1) 2 Renal(35;0.156) TGAGTCACCAGATGAGGGATT 0.438000 24 48 1.96895e-08 2.13441e-08 1 1 0 FAT2 2196 broad.mit.edu 37 5 150924339 150924339 + Nonsense_Mutation SNP G G A TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr5:150924339G>A ENST00000261800.5 - 9 6361 c.6349C>T c.(6349-6351)Cga>Tga p.R2117* NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 2117 Cadherin 18. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding p.R2117*(1) NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GGGTCAATTCGGAAATATGTG 0.428000 62 139 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 138378230 138378230 + Missense_Mutation SNP G G A TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr2:138378230G>A ENST00000409968.1 + 20 3911 c.3733G>A c.(3733-3735)Gtg>Atg p.V1245M THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.V1248M|THSD7B_ENST00000413152.2_Missense_Mutation_p.V1217M thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) GGTGGAATGCGTGGTCAACTG 0.468000 59 104 0 0 1 0 0 MCF2L2 23101 broad.mit.edu 37 3 183107495 183107495 + Missense_Mutation SNP G G A TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr3:183107495G>A ENST00000328913.3 - 2 446 c.149C>T c.(148-150)gCc>gTc p.A50V MCF2L2_ENST00000447025.2_Missense_Mutation_p.A50V|MCF2L2_ENST00000414362.2_Missense_Mutation_p.A50V|MCF2L2_ENST00000473233.1_Missense_Mutation_p.A50V NM_015078.2 NP_055893.2 Q86YR7 MF2L2_HUMAN MCF.2 cell line derived transforming sequence-like 2 50 CRAL-TRIO. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 all_cancers(143;1.26e-12)|Ovarian(172;0.0355) all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) TGAAAGAATGGCAAATTGTCT 0.433000 3 93 0 0 1 0 0 AMFR 267 broad.mit.edu 37 16 56396893 56396893 + Silent SNP G G A TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr16:56396893G>A ENST00000290649.5 - 14 2070 c.1860C>T c.(1858-1860)gaC>gaT p.D620D NM_001144.5 NP_001135.3 Q9UKV5 AMFR2_HUMAN autocrine motility factor receptor, E3 ubiquitin protein ligase 620 endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 17 GGGTCACGGGGTCAGAGGACG 0.567000 29 16 0 0 1 0 0 MKNK2 2872 broad.mit.edu 37 19 2043519 2043519 + Silent SNP G G A TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr19:2043519G>A ENST00000250896.3 - 6 646 c.402C>T c.(400-402)taC>taT p.Y134Y MKNK2_ENST00000541165.1_Silent_p.Y3Y|MKNK2_ENST00000591601.1_Silent_p.Y134Y|MKNK2_ENST00000309340.7_Silent_p.Y134Y NM_199054.2 NP_951009.1 Q9HBH9 MKNK2_HUMAN MAP kinase interacting serine/threonine kinase 2 134 Protein kinase. cell surface receptor linked signaling pathway|intracellular protein kinase cascade|regulation of translation ATP binding|metal ion binding|protein serine/threonine kinase activity breast(1)|kidney(3)|large_intestine(3)|lung(3) 10 Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCTGGCACTGGTACAGCATCT 0.587000 19 59 0 0 1 0 0 KHDRBS2 202559 broad.mit.edu 37 6 62611199 62611199 + Silent SNP G G A TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr6:62611199G>A ENST00000281156.4 - 5 839 c.561C>T c.(559-561)ggC>ggT p.G187G NM_152688.2 NP_689901.2 Q5VWX1 KHDR2_HUMAN KH domain containing, RNA binding, signal transduction associated 2 187 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus SH3 domain binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 BRCA - Breast invasive adenocarcinoma(397;0.149) TAATACCTCTGCCACGACCAG 0.403000 4 121 0 0 1 0 0 RNGTT 8732 broad.mit.edu 37 6 89511325 89511325 + Missense_Mutation SNP T T G TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr6:89511325T>G ENST00000369485.4 - 12 1482 c.1296A>C c.(1294-1296)gaA>gaC p.E432D RNGTT_ENST00000369475.3_Missense_Mutation_p.E432D|RNGTT_ENST00000265607.6_Intron|RNGTT_ENST00000538899.1_Intron NM_003800.3 NP_003791.3 O60942 MCE1_HUMAN RNA guanylyltransferase and 5'-phosphatase 432 GTase. interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction nucleoplasm GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 21 all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05) BRCA - Breast invasive adenocarcinoma(108;0.151) CATGGCTCACTTCTTTGGCAA 0.323000 3 57 0 0 1 0 0 ADH1B 125 broad.mit.edu 37 4 100237088 100237088 + Silent SNP C C T rs142861273 TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr4:100237088C>T ENST00000305046.8 - 5 601 c.534G>A c.(532-534)tcG>tcA p.S178S ADH1B_ENST00000394887.3_Silent_p.S138S P00325 ADH1B_HUMAN alcohol dehydrogenase 1B (class I), beta polypeptide 178 ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(123;1.02e-07) Fomepizole(DB01213)|NADH(DB00157) CATAACCAGTCGAGAATCCAC 0.498000 4 152 0 0 1 0 0 KRT16 3868 broad.mit.edu 37 17 39768742 39768742 + Missense_Mutation SNP C C T rs62066634 byFrequency TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr17:39768742C>T ENST00000301653.4 - 1 263 c.199G>A c.(199-201)Ggc>Agc p.G67S NM_005557.3 NP_005548.2 P08779 K1C16_HUMAN keratin 16 67 Head. cell proliferation|epidermis development intermediate filament protein binding|structural constituent of cytoskeleton NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 Breast(137;0.000307) CCGCCATAGCCGCCCCCCAGC 0.692000 5 14 0 0 1 0 0 DIP2B 57609 broad.mit.edu 37 12 51086786 51086786 + Missense_Mutation SNP G G A TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr12:51086786G>A ENST00000301180.5 + 14 1743 c.1709G>A c.(1708-1710)gGc>gAc p.G570D NM_173602.2 NP_775873.2 Q9P265 DIP2B_HUMAN DIP2 disco-interacting protein 2 homolog B (Drosophila) 570 nucleus catalytic activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 60 CTGTGGCACGGCATGTTTGCG 0.388000 3 64 0 0 1 0 0 AP1S3 130340 broad.mit.edu 37 2 224629906 224629906 + Missense_Mutation SNP C C T TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr2:224629906C>T ENST00000446015.2 - 4 486 c.453G>A c.(451-453)atG>atA p.M151I AP1S3_ENST00000443700.1_Intron|AP1S3_ENST00000396653.2_3'UTR|AP1S3_ENST00000396654.2_Intron Q96PC3 AP1S3_HUMAN adaptor-related protein complex 1, sigma 3 subunit 151 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane coat protein transporter activity NS(1)|breast(1)|lung(2) 4 Renal(207;0.0112)|Lung NSC(271;0.0186)|all_lung(227;0.0272) Epithelial(121;7.6e-10)|all cancers(144;3.62e-07)|Lung(261;0.0086)|LUSC - Lung squamous cell carcinoma(224;0.00902) atcTTTCTCCCATGGTTTGGG 0.373000 30 52 0 0 1 0 0 GRK7 131890 broad.mit.edu 37 3 141497220 141497220 + Missense_Mutation SNP C C T TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr3:141497220C>T ENST00000264952.2 + 1 231 c.94C>T c.(94-96)Cgg>Tgg p.R32W NM_139209.2 NP_631948.1 Q8WTQ7 GRK7_HUMAN G protein-coupled receptor kinase 7 32 visual perception membrane ATP binding|G-protein coupled receptor kinase activity|signal transducer activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 26 AGAGCTGCAGCGGCGGCGGCG 0.682000 15 47 0 0 1 0 0 ZNF665 79788 broad.mit.edu 37 19 53668011 53668011 + Missense_Mutation SNP C C G TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr19:53668011C>G ENST00000600412.1 - 2 1652 c.1537G>C c.(1537-1539)Gca>Cca p.A513P ZNF665_ENST00000396424.3_Missense_Mutation_p.A578P Q9H7R5 ZN665_HUMAN zinc finger protein 665 513 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 35 GBM - Glioblastoma multiforme(134;0.0196) ACACTAAATGCTTTGCCGCAC 0.398000 24 164 0 0 1 0 0 FBN2 2201 broad.mit.edu 37 5 127714467 127714467 + Missense_Mutation SNP T T A TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr5:127714467T>A ENST00000508053.1 - 18 2694 c.1720A>T c.(1720-1722)Att>Ttt p.I574F FBN2_ENST00000508989.1_Missense_Mutation_p.I541F|FBN2_ENST00000262464.4_Missense_Mutation_p.I574F P35556 FBN2_HUMAN fibrillin 2 574 EGF-like 7; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) GCCTTACCAATGCATGCTTGC 0.363000 4 139 0 0 1 0 0 HIRIP3 8479 broad.mit.edu 37 16 30006762 30006762 + Missense_Mutation SNP G G A TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr16:30006762G>A ENST00000279392.3 - 2 918 c.88C>T c.(88-90)Cgg>Tgg p.R30W HIRIP3_ENST00000564026.1_Missense_Mutation_p.R30W|INO80E_ENST00000563197.1_5'UTR|HIRIP3_ENST00000566471.1_Intron NM_003609.4 NP_003600.2 Q9BW71 HIRP3_HUMAN HIRA interacting protein 3 30 chromatin assembly or disassembly nucleus protein binding central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9) 17 TACCTCCGCCGCACGATGGAA 0.652000 3 85 0 0 1 0 0 L3MBTL2 83746 broad.mit.edu 37 22 41620063 41620063 + Missense_Mutation SNP C C T TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr22:41620063C>T ENST00000216237.5 + 9 1140 c.982C>T c.(982-984)Cgg>Tgg p.R328W NM_031488.4 NP_113676.2 Q969R5 LMBL2_HUMAN l(3)mbt-like 2 (Drosophila) 328 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus methylated histone residue binding|transcription corepressor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 GCAGGGCATGCGGCTGGAAGT 0.597000 3 76 0 0 1 0 0 CYP1A2 1544 broad.mit.edu 37 15 75042332 75042332 + Missense_Mutation SNP G G A TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr15:75042332G>A ENST00000343932.4 + 2 316 c.253G>A c.(253-255)Gtg>Atg p.V85M NM_000761.3 NP_000752.2 P05177 CP1A2_HUMAN cytochrome P450, family 1, subfamily A, polypeptide 2 85 alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 33 Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315) CTCCACGCCCGTGCTGGTGCT 0.667000 30 57 0 0 1 0 0 MUC6 4588 broad.mit.edu 37 11 1026378 1026378 + Missense_Mutation SNP G G A TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr11:1026378G>A ENST00000421673.2 - 20 2545 c.2495C>T c.(2494-2496)tCg>tTg p.S832L NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 832 maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GGAGACCCCCGAGAACTCACA 0.652000 17 22 0 0 1 0 0 ZBTB6 10773 broad.mit.edu 37 9 125674357 125674357 + Translation_Start_Site SNP C C T TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr9:125674357C>T ENST00000373659.3 - 0 83 NM_006626.5 NP_006617.1 Q15916 ZBTB6_HUMAN zinc finger and BTB domain containing 6 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(1)|skin(1) 11 GCCATGATCACAATCTAAGCA 0.373000 36 54 0 0 1 0 0 NLRP11 204801 broad.mit.edu 37 19 56320376 56320376 + Missense_Mutation SNP G G T rs115243845 by1000genomes TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr19:56320376G>T ENST00000443188.1 - 5 2310 c.1600C>A c.(1600-1602)Cgt>Agt p.R534S NLRP11_ENST00000592953.1_Missense_Mutation_p.R435S|NLRP11_ENST00000589824.2_Missense_Mutation_p.R534S|NLRP11_ENST00000360133.3_Missense_Mutation_p.R534S|NLRP11_ENST00000589093.1_Missense_Mutation_p.R534S NM_145007.3 NP_659444.2 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 534 ATP binding p.R534C(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 66 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) TCCGGGTCACGGTCCAAATGT 0.448000 4 312 3.59834e-05 3.74343e-05 1 1 0 LRP2 4036 broad.mit.edu 37 2 170038807 170038807 + Missense_Mutation SNP G G A rs144973875 TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr2:170038807G>A ENST00000263816.3 - 51 10153 c.9868C>T c.(9868-9870)Cgc>Tgc p.R3290C LRP2_ENST00000461418.1_5'UTR NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 3290 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding p.R3290C(1) biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) CCATCCAGGCGGGCATCCAAC 0.502000 30 104 0 0 1 0 0 MYH13 8735 broad.mit.edu 37 17 10223518 10223518 + Silent SNP G G A TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr17:10223518G>A ENST00000418404.3 - 25 3463 c.3300C>T c.(3298-3300)gaC>gaT p.D1100D MYH13_ENST00000570743.1_Silent_p.D1100D|MYH13_ENST00000252172.4_Silent_p.D1100D Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 1100 muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 GGACTTGTTCGTCATCTATTT 0.388000 6 11 0 0 1 0 0 NMBR 4829 broad.mit.edu 37 6 142397176 142397176 + Missense_Mutation SNP C C T TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr6:142397176C>T ENST00000258042.1 - 3 922 c.782G>A c.(781-783)cGg>cAg p.R261Q NM_002511.2 NP_002502.2 P28336 NMBR_HUMAN neuromedin B receptor 261 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger cytoplasm|integral to plasma membrane bombesin receptor activity breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 Breast(32;0.155) OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013) CAGGCGTTTCCGTGTTTCCAT 0.378000 24 50 0 0 1 0 0 ASB7 140460 broad.mit.edu 37 15 101170214 101170214 + Nonsense_Mutation SNP C C T TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr15:101170214C>T ENST00000332783.7 + 5 1569 c.784C>T c.(784-786)Cga>Tga p.R262* ASB7_ENST00000558747.1_Intron|ASB7_ENST00000343276.4_Nonsense_Mutation_p.R262* NM_198243.2 NP_937886.1 Q9H672 ASB7_HUMAN ankyrin repeat and SOCS box containing 7 262 intracellular signal transduction breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2) 16 Lung NSC(78;0.00121)|all_lung(78;0.00152)|Melanoma(26;0.00852) OV - Ovarian serous cystadenocarcinoma(32;0.00168)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103) TGGAAGTAGTCGACCATGTTT 0.358000 30 46 0 0 1 0 0 GATA6 2627 broad.mit.edu 37 18 19751314 19751314 + Missense_Mutation SNP C C A TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr18:19751314C>A ENST00000269216.3 + 2 486 c.209C>A c.(208-210)gCg>gAg p.A70E GATA6_ENST00000581694.1_Missense_Mutation_p.A70E NM_005257.4 NP_005248.2 Q92908 GATA6_HUMAN GATA binding protein 6 70 blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1) 18 all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246) STAD - Stomach adenocarcinoma(5;0.106) ACGGAGGCGGCGGCCGGACCC 0.761000 6 17 5.9392e-07 6.27997e-07 1 1 0 SLC52A2 79581 broad.mit.edu 37 8 145583729 145583729 + Missense_Mutation SNP G G A TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr8:145583729G>A ENST00000532887.1 + 3 1160 c.577G>A c.(577-579)Gcc>Acc p.A193T SLC52A2_ENST00000402965.1_Missense_Mutation_p.A193T|SLC52A2_ENST00000526752.1_Intron|SLC52A2_ENST00000540505.1_Missense_Mutation_p.A105T|SLC52A2_ENST00000329994.2_Missense_Mutation_p.A193T|SLC52A2_ENST00000530047.1_Missense_Mutation_p.A193T|SLC52A2_ENST00000527078.1_Missense_Mutation_p.A193T Q9HAB3 RFT3_HUMAN solute carrier family 52 (riboflavin transporter), member 2 193 integral to plasma membrane receptor activity|riboflavin transporter activity GCGTTTTCCCGCCAGCACCTT 0.662000 8 138 0 0 1 0 0 IREB2 3658 broad.mit.edu 37 15 78778046 78778046 + Splice_Site SNP G G A TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr15:78778046G>A ENST00000258886.8 + 13 1722 c.e13-1 NM_004136.2 NP_004127.1 P48200 IREB2_HUMAN iron-responsive element binding protein 2 4 iron, 4 sulfur cluster binding|metal ion binding|protein binding central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 41 UCEC - Uterine corpus endometrioid carcinoma (272;0.232) TGGCTGTGCAGGTCTTTTGGC 0.363000 3 150 0 0 1 0 0 FASLG 356 broad.mit.edu 37 1 172628551 172628551 + Silent SNP C C A TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr1:172628551C>A ENST00000367721.2 + 1 394 c.210C>A c.(208-210)ccC>ccA p.P70P FASLG_ENST00000340030.3_Silent_p.P70P NM_000639.1 NP_000630.1 P48023 TNFL6_HUMAN Fas ligand (TNF superfamily, member 6) 70 Pro-rich. activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction extracellular space|integral to plasma membrane cytokine activity breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1) 19 cgctgccaccCCTGAAGAAGA 0.617000 9 20 3.86212e-05 3.98571e-05 1 1 0 ARHGAP28 79822 broad.mit.edu 37 18 6873483 6873483 + Missense_Mutation SNP C C T TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr18:6873483C>T ENST00000419673.2 + 7 770 c.553C>T c.(553-555)Cgc>Tgc p.R185C ARHGAP28_ENST00000383472.4_Missense_Mutation_p.R344C|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.R344C|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.R292C|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.R185C|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.R185C|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.R167C|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.R180C|RP11-146G7.2_ENST00000583659.1_RNA NM_001010000.2 NP_001010000.1 B4DXL2 B4DXL2_HUMAN Rho GTPase activating protein 28 167 signal transduction intracellular breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 37 Colorectal(10;0.168) GAAGAAAATCCGCCATCTCTC 0.368000 3 94 0 0 1 0 0 IGHM 0 broad.mit.edu 37 14 106320535 106320535 + RNA SNP G G A TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr14:106320535G>A ENST00000390559.2 - 0 1274 CGGTCCTCTCGGTGACCCTGT 0.622000 46 71 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 89954001 89954001 + Missense_Mutation SNP G G C TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr5:89954001G>C ENST00000405460.2 + 21 4754 c.4658G>C c.(4657-4659)cGt>cCt p.R1553P NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 1553 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) GGAGGAGCTCGTATTTCGGAA 0.348000 37 83 0 0 1 0 0 GABRA4 2557 broad.mit.edu 37 4 46995377 46995377 + Missense_Mutation SNP C C T TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr4:46995377C>T ENST00000264318.3 - 1 1047 c.65G>A c.(64-66)cGc>cAc p.R22H GABRA4_ENST00000509316.1_5'UTR NM_000809.3|NM_001204266.1|NM_001204267.1 NP_000800.2|NP_001191195.1|NP_001191196.1 P48169 GBRA4_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 4 22 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) GCACAGGAAGCGCAGGAGGGC 0.592000 51 85 0 0 1 0 0 ZNF551 90233 broad.mit.edu 37 19 58199100 58199100 + Missense_Mutation SNP G G A rs138423649 TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr19:58199100G>A ENST00000282296.5 + 3 1642 c.1457G>A c.(1456-1458)cGc>cAc p.R486H ZNF551_ENST00000356715.4_Missense_Mutation_p.R470H|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000596085.1_Intron NM_001270938.1 NP_001257867.1 Q7Z340 ZN551_HUMAN zinc finger protein 551 486 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1) 15 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) TCCTTTAGCCGCAAATTTATC 0.423000 4 147 0 0 1 0 0 CYLC1 1538 broad.mit.edu 37 X 83129576 83129576 + Missense_Mutation SNP G G T TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chrX:83129576G>T ENST00000329312.4 + 4 1897 c.1860G>T c.(1858-1860)aaG>aaT p.K620N NM_021118.1 NP_066941.1 P35663 CYLC1_HUMAN cylicin, basic protein of sperm head cytoskeleton 1 620 Pro-rich. cell differentiation|multicellular organismal development|spermatogenesis acrosomal matrix|cytoskeletal calyx structural molecule activity NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 58 CATCACCAAAGGTCAGACGTC 0.433000 32 51 3.86903e-22 4.26585e-22 1 1 0 COL6A3 1293 broad.mit.edu 37 2 238274357 238274357 + Missense_Mutation SNP G G A TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr2:238274357G>A ENST00000295550.4 - 12 6274 c.5822C>T c.(5821-5823)tCg>tTg p.S1941L COL6A3_ENST00000409809.1_Missense_Mutation_p.S1735L|COL6A3_ENST00000472056.1_Missense_Mutation_p.S1334L|COL6A3_ENST00000353578.4_Missense_Mutation_p.S1735L|COL6A3_ENST00000347401.3_Missense_Mutation_p.S1740L|COL6A3_ENST00000346358.4_Missense_Mutation_p.S1741L NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 1941 Nonhelical region.|VWFA 10. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) GCTGTCCGGCGAGGACTGTCT 0.552000 31 52 0 0 1 0 0 CRY1 1407 broad.mit.edu 37 12 107393851 107393851 + Missense_Mutation SNP C C T TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr12:107393851C>T ENST00000008527.5 - 6 1561 c.694G>A c.(694-696)Gca>Aca p.A232T NM_004075.3 NP_004066.1 Q16526 CRY1_HUMAN cryptochrome 1 (photolyase-like) 232 FAD-binding. DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1) 29 TCAAAATTTGCCACCCAAGCC 0.348000 4 75 0 0 1 0 0 TLX3 30012 broad.mit.edu 37 5 170738554 170738554 + Missense_Mutation SNP C C A TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr5:170738554C>A ENST00000296921.5 + 3 909 c.827C>A c.(826-828)cCc>cAc p.P276H NM_021025.2 NP_066305.2 O43711 TLX3_HUMAN T-cell leukemia homeobox 3 276 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) AATCTGCAGCCCTGGGAGGAG 0.637000 T BCL11B T-ALL 11 15 4.3838e-07 4.67364e-07 1 1 0 NSUN5P1 0 broad.mit.edu 37 7 75044431 75044431 + RNA SNP C C T rs236650 by1000genomes TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr7:75044431C>T ENST00000393633.2 + 0 3599 large_intestine(1)|lung(1) 2 GCTGGACCCCCGCCAGGCTCC 0.632000 14 49 0 0 1 0 0 KIAA0232 9778 broad.mit.edu 37 4 6865324 6865324 + Missense_Mutation SNP C C T TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr4:6865324C>T ENST00000307659.5 + 7 3670 c.3215C>T c.(3214-3216)cCg>cTg p.P1072L KIAA0232_ENST00000425103.1_Missense_Mutation_p.P1072L NM_014743.2 NP_055558.2 Q92628 K0232_HUMAN KIAA0232 1072 ATP binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1) 41 AGTTTTAAACCGAAATCAATC 0.418000 38 100 0 0 1 0 0 ZC3HAV1L 92092 broad.mit.edu 37 7 138713589 138713589 + Missense_Mutation SNP A A T TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr7:138713589A>T ENST00000275766.1 - 3 630 c.619T>A c.(619-621)Tgc>Agc p.C207S NM_080660.3 NP_542391.2 Q96H79 ZCCHL_HUMAN zinc finger CCCH-type, antiviral 1-like 207 NS(2)|endometrium(2)|large_intestine(1)|lung(4)|skin(1) 10 GACCGTTTGCAGGTCTGAAGT 0.433000 3 87 0 0 1 0 0 NLRP11 204801 broad.mit.edu 37 19 56321356 56321356 + Missense_Mutation SNP C C G TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr19:56321356C>G ENST00000443188.1 - 5 1330 c.620G>C c.(619-621)tGg>tCg p.W207S NLRP11_ENST00000592953.1_Missense_Mutation_p.W108S|NLRP11_ENST00000589824.2_Missense_Mutation_p.W207S|NLRP11_ENST00000360133.3_Missense_Mutation_p.W207S|NLRP11_ENST00000589093.1_Missense_Mutation_p.W207S NM_145007.3 NP_659444.2 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 207 NACHT. ATP binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 66 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) GCCGTCAGGCCAGTCCTTGGC 0.498000 44 66 0 0 1 0 0 ZFP69 339559 broad.mit.edu 37 1 40960602 40960602 + Missense_Mutation SNP G G C TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr1:40960602G>C ENST00000372706.1 + 6 1458 c.452G>C c.(451-453)aGt>aCt p.S151T RP11-656D10.3_ENST00000450713.1_RNA|ZFP69_ENST00000372705.3_Missense_Mutation_p.S151T ZFP69 zinc finger protein GACTTGAAGAGTAAAATAGAA 0.333000 3 81 0 0 1 0 0 ADCY4 196883 broad.mit.edu 37 14 24793338 24793338 + Missense_Mutation SNP C C T TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr14:24793338C>T ENST00000310677.4 - 17 2089 c.1976G>A c.(1975-1977)cGa>cAa p.R659Q ADCY4_ENST00000396747.3_Missense_Mutation_p.R352Q|ADCY4_ENST00000418030.2_Missense_Mutation_p.R659Q|ADCY4_ENST00000554068.2_Missense_Mutation_p.R659Q NM_001198568.1|NM_001198592.1|NM_139247.3 NP_001185497.1|NP_001185521.1|NP_640340.2 Q8NFM4 ADCY4_HUMAN adenylate cyclase 4 659 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding|protein binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(265;0.0192) CAGTCCTGGTCGTGTGGCCAC 0.622000 18 46 0 0 1 0 0 EGFR 1956 broad.mit.edu 37 7 55241722 55241722 + Missense_Mutation SNP G G A TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr7:55241722G>A ENST00000275493.2 + 18 2347 c.2170G>A c.(2170-2172)Ggc>Agc p.G724S EGFR_ENST00000455089.1_Missense_Mutation_p.G679S|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Missense_Mutation_p.G671S NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 724 Protein kinase. G -> S (found in a lung cancer sample). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.G724S(3) NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) CGGTGCGTTCGGCACGGTGTA 0.562000 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 123 1881 0 0 1 0 0 MAP2 4133 broad.mit.edu 37 2 210558554 210558554 + Missense_Mutation SNP A A G TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr2:210558554A>G ENST00000360351.4 + 7 2166 c.1660A>G c.(1660-1662)Aca>Gca p.T554A MAP2_ENST00000447185.1_Missense_Mutation_p.T550A|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron NM_002374.3 NP_002365.3 P11137 MAP2_HUMAN microtubule-associated protein 2 554 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 124 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) TGGAGCTGCAACATCAGCTGA 0.368000 5 142 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124345695 124345695 + Missense_Mutation SNP G G A TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr10:124345695G>A ENST00000368909.3 + 16 1685 c.1579G>A c.(1579-1581)Gat>Aat p.D527N DMBT1_ENST00000344338.3_Missense_Mutation_p.D517N|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000368955.3_Missense_Mutation_p.D517N|DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000338354.3_Missense_Mutation_p.D527N NM_007329.2 NP_015568.2 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 527 SRCR 4. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding p.D527Y(3) breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) GGACACCAATGATGCCAATGT 0.612000 6 323 0 0 1 0 0 IQCA1 79781 broad.mit.edu 37 2 237308067 237308067 + Missense_Mutation SNP T T C TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr2:237308067T>C ENST00000409907.3 - 9 1473 c.1199A>G c.(1198-1200)aAc>aGc p.N400S IQCA1_ENST00000431676.2_Missense_Mutation_p.N359S|IQCA1_ENST00000465621.1_5'UTR|IQCA1_ENST00000309507.5_Missense_Mutation_p.N396S Q86XH1 IQCA1_HUMAN IQ motif containing with AAA domain 1 400 Lys-rich. ATP binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1) 26 TTTGTATGCGTTACATCCTTC 0.463000 5 109 0 0 1 0 0 ZMYM3 9203 broad.mit.edu 37 X 70464671 70464671 + Missense_Mutation SNP G G C TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chrX:70464671G>C ENST00000373998.1 - 19 3741 c.3044C>G c.(3043-3045)aCt>aGt p.T1015S ZMYM3_ENST00000373984.3_Missense_Mutation_p.T1029S|ZMYM3_ENST00000353904.2_Missense_Mutation_p.T1027S|ZMYM3_ENST00000314425.5_Missense_Mutation_p.T1027S|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373988.1_Missense_Mutation_p.T1029S NM_001171162.1 NP_001164633.1 Q14202 ZMYM3_HUMAN zinc finger, MYM-type 3 1027 multicellular organismal development nucleus DNA binding|zinc ion binding p.T1027fs*9(1) breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(35;0.156) GTCTTGTTCAGTAGACACATC 0.478000 8 27 0 0 1 0 0 SUZ12 23512 broad.mit.edu 37 17 30303572 30303572 + Nonsense_Mutation SNP C C T TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr17:30303572C>T ENST00000322652.5 + 8 1085 c.856C>T c.(856-858)Cga>Tga p.R286* SUZ12_ENST00000580398.1_Nonsense_Mutation_p.R263* NM_015355.2 NP_056170.2 Q15022 SUZ12_HUMAN SUZ12 polycomb repressive complex 2 subunit 286 negative regulation of cell differentiation|transcription, DNA-dependent ESC/E(Z) complex histone methyltransferase activity|methylated histone residue binding|zinc ion binding p.R286*(1) SSH2/SUZ12(2)|JAZF1/SUZ12(133) breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1) 21 Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231) CAGAAGAAAACGAAATCGTGA 0.343000 T JAZF1 endometrial stromal tumours 3 49 0 0 1 0 0 TTC27 55622 broad.mit.edu 37 2 32858959 32858959 + Missense_Mutation SNP C C G TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr2:32858959C>G ENST00000317907.4 + 3 514 c.283C>G c.(283-285)Cta>Gta p.L95V NM_001193509.1|NM_017735.4 NP_001180438.1|NP_060205.3 Q6P3X3 TTC27_HUMAN tetratricopeptide repeat domain 27 95 protein binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 38 GTTGATATTTCTACTTGGTGT 0.368000 22 97 0 0 1 0 0 RNASEH2A 10535 broad.mit.edu 37 19 12920991 12920991 + Missense_Mutation SNP C C T TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr19:12920991C>T ENST00000221486.4 + 5 612 c.518C>T c.(517-519)cCg>cTg p.P173L NM_006397.2 NP_006388.2 O75792 RNH2A_HUMAN ribonuclease H2, subunit A 173 DNA replication|RNA catabolic process nucleus|ribonuclease H2 complex metal ion binding|ribonuclease H activity|RNA binding breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1) 14 GCCCTCTACCCGGTGGTTAGT 0.582000 35 112 0 0 1 0 0 APEX2 27301 broad.mit.edu 37 X 55033742 55033742 + Silent SNP G G T TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chrX:55033742G>T ENST00000374987.3 + 6 1497 c.1431G>T c.(1429-1431)gtG>gtT p.V477V NM_014481.2 NP_055296.2 Q9UBZ4 APEX2_HUMAN APEX nuclease (apurinic/apyrimidinic endonuclease) 2 477 cell cycle|DNA recombination|DNA repair nucleus DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1) 21 AGCCATGTGTGATGCGTACTG 0.622000 Other BER factors 21 37 2.37509e-13 2.5965e-13 1 1 0 TUBGCP6 85378 broad.mit.edu 37 22 50656813 50656813 + Missense_Mutation SNP G G A TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr22:50656813G>A ENST00000248846.5 - 23 5077 c.4973C>T c.(4972-4974)gCc>gTc p.A1658V TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000439308.2_3'UTR Q96RT7 GCP6_HUMAN tubulin, gamma complex associated protein 6 1658 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) CACAGAGCCGGCCATGTGGCT 0.662000 3 81 0 0 1 0 0 PGM5 5239 broad.mit.edu 37 9 70993121 70993121 + Nonsense_Mutation SNP C C T TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr9:70993121C>T ENST00000396396.1 + 2 497 c.268C>T c.(268-270)Cga>Tga p.R90* PGM5_ENST00000604870.2_3'UTR|PGM5_ENST00000396392.1_Nonsense_Mutation_p.R90* NM_021965.3 NP_068800.2 Q15124 PGM5_HUMAN phosphoglucomutase 5 90 cell adhesion|cellular calcium ion homeostasis|glucose metabolic process costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1) 34 TTAGATTGGACGACTGATTAT 0.443000 20 56 0 0 1 0 0 GZMK 3003 broad.mit.edu 37 5 54329739 54329739 + Silent SNP G G A TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr5:54329739G>A ENST00000231009.2 + 5 850 c.780G>A c.(778-780)ccG>ccA p.P260P CTD-2313F11.1_ENST00000595218.1_RNA NM_002104.2 NP_002095.1 P49863 GRAK_HUMAN granzyme K (granzyme 3; tryptase II) 260 proteolysis extracellular region serine-type endopeptidase activity p.P260P(1) autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4) 15 Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183) ACCTTGTCCCGCCTCATACAA 0.408000 17 47 0 0 1 0 0 AKAP17A 8227 broad.mit.edu 37 X 1720261 1720261 + Missense_Mutation SNP G G A TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chrX:1720261G>A ENST00000313871.3 + 5 2058 c.1862G>A c.(1861-1863)cGg>cAg p.R621Q NM_005088.2 NP_005079.2 Q02040 AK17A_HUMAN A kinase (PRKA) anchor protein 17A 621 Arg-rich. B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction nuclear speck|spliceosomal complex nucleotide binding|protein binding|RNA binding breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3) 26 CGCAAGGAGCGGCGGCCCCAC 0.731000 4 18 0 0 1 0 0 PLOD1 5351 broad.mit.edu 37 1 12024322 12024322 + Silent SNP C C T TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr1:12024322C>T ENST00000196061.4 + 12 1320 c.1293C>T c.(1291-1293)tcC>tcT p.S431S PLOD1_ENST00000376369.3_Silent_p.S478S NM_000302.3 NP_000293.2 Q02809 PLOD1_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 431 epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia rough endoplasmic reticulum membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 29 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126) ATGCCCGTTCCGAGGACTACG 0.627000 8 213 0 0 1 0 0 NKRF 55922 broad.mit.edu 37 X 118724016 118724016 + Missense_Mutation SNP T T C TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chrX:118724016T>C ENST00000371527.1 - 2 2024 c.1372A>G c.(1372-1374)Aca>Gca p.T458A NKRF_ENST00000487600.1_Intron|NKRF_ENST00000304449.5_Missense_Mutation_p.T458A|NKRF_ENST00000542113.1_Missense_Mutation_p.T473A NM_001173488.1 NP_001166959.1 O15226 NKRF_HUMAN NFKB repressing factor 458 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|double-stranded RNA binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1) 30 AACTGAGCTGTGTCGTTCAGC 0.428000 52 138 0 0 1 0 0 ST3GAL4 6484 broad.mit.edu 37 11 126278294 126278294 + Missense_Mutation SNP C C G TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr11:126278294C>G ENST00000526727.1 + 7 904 c.530C>G c.(529-531)cCc>cGc p.P177R ST3GAL4_ENST00000534457.1_Missense_Mutation_p.P172R|ST3GAL4_ENST00000534083.1_Missense_Mutation_p.P177R|ST3GAL4_ENST00000392669.2_Missense_Mutation_p.P177R|ST3GAL4_ENST00000532243.1_Missense_Mutation_p.P176R|ST3GAL4_ENST00000530591.1_Missense_Mutation_p.P173R|ST3GAL4_ENST00000526756.1_3'UTR|ST3GAL4_ENST00000227495.6_Missense_Mutation_p.P173R|ST3GAL4_ENST00000356132.4_Missense_Mutation_p.P183R|ST3GAL4_ENST00000444328.2_Missense_Mutation_p.P177R|ST3GAL4_ENST00000449406.2_Missense_Mutation_p.P166R Q11206 SIA4C_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 4 177 post-translational protein modification|protein N-linked glycosylation via asparagine extracellular region|Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,3-sialyltransferase activity endometrium(1)|large_intestine(2)|lung(5)|stomach(1) 9 all_hematologic(175;0.145) Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767) CACTTCGACCCCAAAGTAGAA 0.532000 3 91 0 0 1 0 0 OR2G6 391211 broad.mit.edu 37 1 248685544 248685544 + Silent SNP C C T TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr1:248685544C>T ENST00000343414.4 + 1 629 c.597C>T c.(595-597)ctC>ctT p.L199L NM_001013355.1 NP_001013373.1 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, member 6 199 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) AGGCAGAACTCTTTGTGGCCA 0.473000 29 70 0 0 1 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33683148 33683148 + Missense_Mutation SNP C C T rs61754760 TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr5:33683148C>T ENST00000504830.1 - 5 1225 c.890G>A c.(889-891)cGg>cAg p.R297Q ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.R297Q NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 297 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 TAGAATGAGCCGAACCACAAC 0.433000 HNSCC(64;0.19) 21 49 0 0 1 0 0 PML 5371 broad.mit.edu 37 15 74315324 74315324 + Missense_Mutation SNP C C A TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr15:74315324C>A ENST00000565898.1 + 3 842 c.758C>A c.(757-759)gCc>gAc p.A253D PML_ENST00000395135.3_Missense_Mutation_p.A253D|PML_ENST00000564428.1_Missense_Mutation_p.A253D|PML_ENST00000268058.3_Missense_Mutation_p.A253D|PML_ENST00000567543.1_Missense_Mutation_p.A253D|PML_ENST00000268059.6_Missense_Mutation_p.A253D|PML_ENST00000359928.4_Missense_Mutation_p.A253D|PML_ENST00000569477.1_Missense_Mutation_p.A253D|PML_ENST00000569161.1_3'UTR|PML_ENST00000563500.1_Missense_Mutation_p.A253D|PML_ENST00000354026.6_Missense_Mutation_p.A253D|PML_ENST00000435786.2_Missense_Mutation_p.A253D|PML_ENST00000395132.2_Missense_Mutation_p.A253D|PML_ENST00000436891.3_Missense_Mutation_p.A253D|PML_ENST00000569965.1_Missense_Mutation_p.A253D P29590 PML_HUMAN promyelocytic leukemia 253 cell cycle arrest|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 resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 31 CAGGATAGTGCCTTTGGCGCG 0.687000 T """RARA, PAX5""" """APL, ALL""" 13 20 4.3838e-07 4.67364e-07 1 1 0 HDLBP 3069 broad.mit.edu 37 2 242194885 242194885 + Silent SNP G G A TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr2:242194885G>A ENST00000391975.1 - 8 1211 c.984C>T c.(982-984)tcC>tcT p.S328S HDLBP_ENST00000427183.2_Intron|HDLBP_ENST00000310931.4_Silent_p.S328S|HDLBP_ENST00000391976.2_Silent_p.S328S NM_203346.3 NP_976221.1 Q00341 VIGLN_HUMAN high density lipoprotein binding protein 328 KH 3. cholesterol metabolic process|lipid transport cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane lipid binding|protein binding|RNA binding breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928) GGATCTCAACGGAAACTCCAG 0.473000 4 150 0 0 1 0 0 SLC6A15 55117 broad.mit.edu 37 12 85267059 85267059 + Missense_Mutation SNP C C A TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr12:85267059C>A ENST00000266682.5 - 7 1457 c.916G>T c.(916-918)Gtg>Ttg p.V306L SLC6A15_ENST00000309283.7_Missense_Mutation_p.V14L|SLC6A15_ENST00000552192.1_Missense_Mutation_p.V199L|SLC6A15_ENST00000551388.1_Intron NM_182767.5 NP_877499.1 Q9H2J7 S6A15_HUMAN solute carrier family 6 (neutral amino acid transporter), member 15 306 cellular nitrogen compound metabolic process|leucine transport|proline transport integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 44 GCAAAGAACACTTGAGTAGCA 0.403000 5 158 0.217242 0.218939 1 1 0 FAM71B 153745 broad.mit.edu 37 5 156590151 156590151 + Silent SNP C C T TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr5:156590151C>T ENST00000302938.4 - 2 1220 c.1125G>A c.(1123-1125)gcG>gcA p.A375A NM_130899.2 NP_570969.2 Q8TC56 FA71B_HUMAN family with sequence similarity 71, member B 375 nucleus NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TGCCTGCAAACGCCGCACTCA 0.582000 21 54 0 0 1 0 0 MIA3 375056 broad.mit.edu 37 1 222835662 222835662 + Silent SNP C C T TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr1:222835662C>T ENST00000344922.5 + 26 5275 c.5250C>T c.(5248-5250)ctC>ctT p.L1750L MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Silent_p.L1750L|MIA3_ENST00000340535.7_Silent_p.L628L NM_198551.2 NP_940953.2 Q5JRA6 MIA3_HUMAN melanoma inhibitory activity family, member 3 1750 Pro-rich. exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing endoplasmic reticulum membrane|integral to membrane protein binding breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1) 80 GBM - Glioblastoma multiforme(131;0.0199) CCAGGGTACTCGATGAAGGCA 0.423000 3 117 0 0 1 0 0 LNX1 84708 broad.mit.edu 37 4 54327127 54327127 + Missense_Mutation SNP G G A TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr4:54327127G>A ENST00000306888.2 - 10 2097 c.1846C>T c.(1846-1848)Ctt>Ttt p.L616F FIP1L1_ENST00000507166.1_Intron|LNX1_ENST00000263925.7_Missense_Mutation_p.L712F NM_032622.2 NP_116011.2 Q8TBB1 LNX1_HUMAN ligand of numb-protein X 1, E3 ubiquitin protein ligase 712 cytoplasm zinc ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4) 32 all_neural(26;0.153) GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134) CTTCCTTTAAGTTCTTTCAGC 0.343000 33 54 0 0 1 0 0 SF3B1 23451 broad.mit.edu 37 2 198267364 198267364 + Missense_Mutation SNP T T A TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr2:198267364T>A ENST00000335508.5 - 14 2084 c.1993A>T c.(1993-1995)Att>Ttt p.I665F NM_012433.2 NP_036565.2 O75533 SF3B1_HUMAN splicing factor 3b, subunit 1, 155kDa 665 nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex protein binding NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 633 OV - Ovarian serous cystadenocarcinoma(117;0.246) ACAATCTTAATACCAGTGTGT 0.408000 Mis myelodysplastic syndrome 13 68 0 0 1 0 0 TRPM2 7226 broad.mit.edu 37 21 45846577 45846577 + Missense_Mutation SNP C C T rs113563173 byFrequency TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr21:45846577C>T ENST00000397928.1 + 26 4275 c.3830C>T c.(3829-3831)aCg>aTg p.T1277M TRPM2_ENST00000397932.2_Missense_Mutation_p.T1327M|TRPM2_ENST00000300481.9_Missense_Mutation_p.T1257M|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Missense_Mutation_p.T1277M NM_003307.3 NP_003298.1 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 1277 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity p.T1277M(1) breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 CCCTTTTACACGGCAGAGAGG 0.602000 18 107 0 0 1 0 0 WSCD2 9671 broad.mit.edu 37 12 108589925 108589925 + Missense_Mutation SNP G G A TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr12:108589925G>A ENST00000332082.4 + 3 1134 c.316G>A c.(316-318)Gac>Aac p.D106N WSCD2_ENST00000547525.1_Missense_Mutation_p.D106N|WSCD2_ENST00000261400.3_Missense_Mutation_p.D106N|WSCD2_ENST00000549903.1_Missense_Mutation_p.D106N Q2TBF2 WSCD2_HUMAN WSC domain containing 2 106 integral to membrane breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 57 CAAGCTTGGCGACTACGGTGG 0.607000 31 54 0 0 1 0 0 IGSF1 3547 broad.mit.edu 37 X 130415782 130415782 + Missense_Mutation SNP T T G TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chrX:130415782T>G ENST00000370904.1 - 14 2266 c.1356A>C c.(1354-1356)caA>caC p.Q452H IGSF1_ENST00000370910.1_Missense_Mutation_p.Q452H|IGSF1_ENST00000370903.3_Missense_Mutation_p.Q461H|IGSF1_ENST00000361420.3_Missense_Mutation_p.Q461H Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 461 Ig-like C2-type 5. regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2) 78 CTGAGAATTTTTGGAATGTTT 0.453000 41 51 0 0 1 0 0 SLC25A14 9016 broad.mit.edu 37 X 129498601 129498601 + Splice_Site SNP G G A TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chrX:129498601G>A ENST00000543953.1 + 7 538 c.e7-1 SLC25A14_ENST00000545805.1_Splice_Site|SLC25A14_ENST00000467496.1_Splice_Site|SLC25A14_ENST00000339231.3_Splice_Site|SLC25A14_ENST00000361980.5_Splice_Site|SLC25A14_ENST00000218197.5_Splice_Site O95258 UCP5_HUMAN solute carrier family 25 (mitochondrial carrier, brain), member 14 aerobic respiration|mitochondrial transport integral to plasma membrane|mitochondrial inner membrane binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1) 22 GTGTTTCGTAGGGTGTGGTTC 0.408000 36 89 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55534023 55534023 + Missense_Mutation SNP C C T TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr8:55534023C>T ENST00000220676.1 + 2 645 c.497C>T c.(496-498)aCg>aTg p.T166M NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 166 Doublecortin 2. axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding p.T166M(1) NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) GACCCGAAGACGAGGCGTGCG 0.642000 48 98 0 0 1 0 0 AC005307.3 0 broad.mit.edu 37 19 29215151 29215151 + RNA SNP G G A rs151046529 by1000genomes TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr19:29215151G>A ENST00000592347.1 - 0 390 CAGACTGTCCGCCATCCAGAT 0.443000 10 39 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664186 22664186 + RNA SNP A A G TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr22:22664186A>G ENST00000426066.1 + 0 709 NR_027293.1 CAGATCAAGAAAGCACTCTGA 0.498000 4 95 0 0 1 0 0 AHCY 191 broad.mit.edu 37 20 32873405 32873405 + Silent SNP G G A rs139344907 byFrequency TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr20:32873405G>A ENST00000538132.1 - 9 1310 c.924C>T c.(922-924)atC>atT p.I308I AHCY_ENST00000217426.2_Silent_p.I336I NM_001161766.1 NP_001155238.1 P23526 SAHH_HUMAN adenosylhomocysteinase 336 methylation|xenobiotic metabolic process cytosol|melanosome adenosylhomocysteinase activity|protein binding endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 CCAGCAGGATGATGCGGCGCC 0.632000 9 134 0 0 1 0 0 PSPH 5723 broad.mit.edu 37 7 56085002 56085002 + Missense_Mutation SNP C C T TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr7:56085002C>T ENST00000395471.3 - 6 1151 c.346G>A c.(346-348)Gta>Ata p.V116I PSPH_ENST00000459834.1_Intron|PSPH_ENST00000275605.3_Missense_Mutation_p.V116I P78330 SERB_HUMAN phosphoserine phosphatase 116 L-serine biosynthetic process cytoplasm calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity p.V116I(1) cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1) 11 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) ACATGCTCTACAATACTCCTA 0.393000 3 85 0 0 1 0 0 FARP1 10160 broad.mit.edu 37 13 99083337 99083337 + Missense_Mutation SNP A A G TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr13:99083337A>G ENST00000376586.2 + 18 2282 c.1946A>G c.(1945-1947)gAg>gGg p.E649G FARP1_ENST00000319562.6_Missense_Mutation_p.E649G|FARP1_ENST00000595437.1_Missense_Mutation_p.E649G Q9Y4F1 FARP1_HUMAN FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) 649 DH. regulation of Rho protein signal transduction cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1) 49 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) GAGGCCTTGGAGGCCCTGGAG 0.582000 3 73 0 0 1 0 0 TRHDE 29953 broad.mit.edu 37 12 72893328 72893328 + Silent SNP C C T TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr12:72893328C>T ENST00000261180.4 + 6 1596 c.1500C>T c.(1498-1500)gaC>gaT p.D500D NM_013381.2 NP_037513.1 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 500 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding p.D500D(1) NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 TGCTGCTGGACGGTTTGGCCA 0.458000 34 50 0 0 1 0 0 NLRP11 204801 broad.mit.edu 37 19 56320377 56320377 + Missense_Mutation SNP G G T TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr19:56320377G>T ENST00000443188.1 - 5 2309 c.1599C>A c.(1597-1599)gaC>gaA p.D533E NLRP11_ENST00000592953.1_Missense_Mutation_p.D434E|NLRP11_ENST00000589824.2_Missense_Mutation_p.D533E|NLRP11_ENST00000360133.3_Missense_Mutation_p.D533E|NLRP11_ENST00000589093.1_Missense_Mutation_p.D533E NM_145007.3 NP_659444.2 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 533 ATP binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 66 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) CCGGGTCACGGTCCAAATGTT 0.448000 4 316 3.59834e-05 3.74343e-05 1 1 0 CPXCR1 53336 broad.mit.edu 37 X 88009269 88009269 + Missense_Mutation SNP T T A TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chrX:88009269T>A ENST00000276127.4 + 3 1113 c.854T>A c.(853-855)tTt>tAt p.F285Y CPXCR1_ENST00000373111.1_Missense_Mutation_p.F285Y NM_033048.5 NP_149037.4 Q8N123 CPXCR_HUMAN CPX chromosome region, candidate 1 285 intracellular zinc ion binding NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2) 40 GGAAGGCTTTTTAACACTTAC 0.303000 26 37 0 0 1 0 0 FAM92A1P2 0 broad.mit.edu 37 4 183959372 183959372 + RNA SNP G G A TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr4:183959372G>A ENST00000502308.1 + 0 555 NR_003612.1 TTTGAATTTCGACCTTTAAAA 0.468000 4 12 0 0 1 0 0 DSG2 1829 broad.mit.edu 37 18 29126335 29126335 + Missense_Mutation SNP G G T TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr18:29126335G>T ENST00000261590.8 + 15 3195 c.2986G>T c.(2986-2988)Ggg>Tgg p.G996W RP11-75N4.2_ENST00000583706.1_RNA NM_001943.3 NP_001934.2 Q14126 DSG2_HUMAN desmoglein 2 996 cellular component disassembly involved in apoptosis|homophilic cell adhesion desmosome|integral to membrane calcium ion binding breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(10;0.0068) ACAGCCTCATGGGGGTGGATC 0.498000 5 77 0.014758 0.0149904 1 1 0 CACNA2D4 93589 broad.mit.edu 37 12 1995491 1995491 + Silent SNP G G A TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr12:1995491G>A ENST00000382722.5 - 8 1253 c.891C>T c.(889-891)gaC>gaT p.D297D CACNA2D4_ENST00000587995.1_Silent_p.D297D|CACNA2D4_ENST00000586184.1_Silent_p.D297D|CACNA2D4_ENST00000585708.1_Silent_p.D233D|CACNA2D4_ENST00000588077.1_Silent_p.D233D|CACNA2D4_ENST00000585732.1_Intron NM_172364.4 NP_758952.4 Q7Z3S7 CA2D4_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 4 297 VWFA. integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 39 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451) TGCCGCTCACGTCCACCAAAA 0.488000 28 41 0 0 1 0 0 CA13 377677 broad.mit.edu 37 8 86180769 86180769 + Silent SNP A A G rs143754749 TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr8:86180769A>G ENST00000321764.3 + 6 884 c.582A>G c.(580-582)acA>acG p.T194T CA13_ENST00000517298.1_3'UTR NM_198584.2 NP_940986.1 Q8N1Q1 CAH13_HUMAN carbonic anhydrase XIII 194 one-carbon metabolic process carbonate dehydratase activity|zinc ion binding large_intestine(1)|lung(6) 7 ACTACTGGACATATCCTGGTT 0.403000 7 137 0 0 1 0 0 ATP1A2 477 broad.mit.edu 37 1 160099056 160099056 + Splice_Site SNP C C T TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr1:160099056C>T ENST00000361216.3 + 11 1416 c.1326_splice c.e11-1 p.R443_splice ATP1A2_ENST00000392233.3_Splice_Site_p.R443_splice|ATP1A2_ENST00000472488.1_3'UTR NM_000702.3 NP_000693.1 P50993 AT1A2_HUMAN ATPase, Na+/K+ transporting, alpha 2 polypeptide 443 ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 69 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) CTTCTGGCAGCGGGACACAGC 0.557000 84 163 0 0 1 0 0 C8A 731 broad.mit.edu 37 1 57378109 57378109 + Missense_Mutation SNP A A T TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr1:57378109A>T ENST00000361249.3 + 10 1510 c.1414A>T c.(1414-1416)Agc>Tgc p.S472C NM_000562.2 NP_000553.1 P07357 CO8A_HUMAN complement component 8, alpha polypeptide 472 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular space|membrane attack complex NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 43 GCGGCACACAAGCCTGGGGCC 0.602000 36 70 0 0 1 0 0 BCORL1 63035 broad.mit.edu 37 X 129147463 129147463 + Missense_Mutation SNP G G A TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chrX:129147463G>A ENST00000540052.1 + 3 759 c.715G>A c.(715-717)Gtc>Atc p.V239I BCORL1_ENST00000303743.5_Missense_Mutation_p.V239I|BCORL1_ENST00000218147.7_Missense_Mutation_p.V239I|BCORL1_ENST00000359304.2_Missense_Mutation_p.V239I NM_021946.4 NP_068765.3 Q5H9F3 BCORL_HUMAN BCL6 corepressor-like 1 239 Pro-rich. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 75 GCTTGTTCCAGTCCAAGTTGC 0.637000 92 163 0 0 1 0 0 RIPK4 54101 broad.mit.edu 37 21 43161012 43161012 + Nonsense_Mutation SNP G G A TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr21:43161012G>A ENST00000352483.2 - 9 2549 c.2485C>T c.(2485-2487)Cga>Tga p.R829* RIPK4_ENST00000544709.1_Nonsense_Mutation_p.R718*|RIPK4_ENST00000542057.1_Nonsense_Mutation_p.R718*|RIPK4_ENST00000332512.3_Nonsense_Mutation_p.R781*|AP001615.9_ENST00000423276.1_RNA Q96T11 Q96T11_HUMAN receptor-interacting serine-threonine kinase 4 781 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 GTCTTGCTTCGCCGCAGGAGC 0.672000 15 40 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 21049263 21049263 + Silent SNP C C T TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr16:21049263C>T ENST00000261383.3 - 34 4769 c.4770G>A c.(4768-4770)tcG>tcA p.S1590S DNAH3_ENST00000415178.1_Silent_p.S1590S NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1590 AAA 1 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) ACAGTTGTTCCGAGCACAGGC 0.547000 16 29 0 0 1 0 0 TRGC1 0 broad.mit.edu 37 7 38301855 38301856 + RNA DEL GT GT - TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr7:38301855_38301856delGT ENST00000443402.2 - 0 330 NM_001003799.1|NM_001003806.1 NP_001003799.1|NP_001003806.1 TCAATTGTTCGTGTGTGTGTGT 0.356 8 229 --- --- --- --- GOLGA2 2801 broad.mit.edu 37 9 131019389 131019390 + Frame_Shift_Ins INS - - A TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr9:131019389_131019390insA ENST00000421699.2 - 26 2977_2978 c.2965_2966insT c.(2965-2967)ccgfs p.P989fs NM_004486.4 NP_004477.3 Q08379 GOGA2_HUMAN golgin A2 989 Golgi cisterna membrane protein binding p.Y977fs*9(2) NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 34 GTCAGCCCGGTAAAAAAAAGGA 0.564 7 220 --- --- --- --- RP11-536C10.7 0 broad.mit.edu 37 14 19408019 19408019 + RNA DEL A A - TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr14:19408019delA ENST00000548050.1 - 0 279 NR_046104.1 CTGTGGAGCCAAAAAAAAAAT 0.393 3 3 --- --- --- --- MYH13 8735 broad.mit.edu 37 17 10248554 10248554 + Frame_Shift_Del DEL T T - TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr17:10248554delT ENST00000418404.3 - 14 1712 c.1549delA c.(1549-1551)tgfs p.M517fs MYH13_ENST00000252172.4_Frame_Shift_Del_p.M517fs|MYH13_ENST00000570743.1_Frame_Shift_Del_p.M517fs Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 517 Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 GCCAGGTCCATTCCGAAGTCA 0.522 13 181 --- --- --- --- RP4-610C12.4 0 broad.mit.edu 37 20 29517268 29517268 + RNA DEL A A - TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42c28a52-8073-48ea-9d4b-48ecea6c5c22 e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09 g.chr20:29517268delA ENST00000380888.3 - 0 98 CAAGAGCCCCAACAGGAGCTC 0.527 2 4 --- --- --- ---