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 NFATC2 4773 broad.mit.edu 37 20 50139839 50139839 + Missense_Mutation SNP G G A TCGA-HT-7874-01A-11D-2395-08 TCGA-HT-7874-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b 159201aa-9f74-4b4a-ba23-b6863a698317 g.chr20:50139839G>A ENST00000371564.3 - 2 1160 c.941C>T c.(940-942)tCg>tTg p.S314L NFATC2_ENST00000414705.1_Missense_Mutation_p.S294L|NFATC2_ENST00000396009.3_Missense_Mutation_p.S314L NM_001258296.1|NM_012340.4 NP_001245225.1|NP_036472.2 Q13469 NFAC2_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 314 B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity EWSR1/NFATC2(9) breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 53 Hepatocellular(150;0.248) CCCACAAGGCGAGTCCGTGGC 0.687000 5 21 0 0 1 0 0 PCDHA3 0 broad.mit.edu 37 5 140181778 140181778 + Missense_Mutation SNP T T G rs140096953 by1000genomes TCGA-HT-7874-01A-11D-2395-08 TCGA-HT-7874-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b 159201aa-9f74-4b4a-ba23-b6863a698317 g.chr5:140181778T>G ENST00000522353.2 + 1 996 c.996T>G c.(994-996)gaT>gaG p.D332E PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.D332E|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron NM_018906.2 NP_061729.1 NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAATGTCAGATCACTGCACAG 0.378000 21 99 0 0 1 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-HT-7874-01A-11D-2395-08 TCGA-HT-7874-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b 159201aa-9f74-4b4a-ba23-b6863a698317 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 4 43 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178952073 178952073 + Missense_Mutation SNP T T C TCGA-HT-7874-01A-11D-2395-08 TCGA-HT-7874-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b 159201aa-9f74-4b4a-ba23-b6863a698317 g.chr3:178952073T>C ENST00000263967.3 + 21 3285 c.3128T>C c.(3127-3129)aTg>aCg p.M1043T NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 1043 PI3K/PI4K. M -> I (in cancer; shows an increase in lipid kinase activity). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.M1043T(4) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) ATGAAACAAATGAATGATGCA 0.368000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 18 84 0 0 1 0 0 REPS1 85021 broad.mit.edu 37 6 139229869 139229869 + Missense_Mutation SNP C C G TCGA-HT-7874-01A-11D-2395-08 TCGA-HT-7874-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b 159201aa-9f74-4b4a-ba23-b6863a698317 g.chr6:139229869C>G ENST00000450536.2 - 18 2726 c.2152G>C c.(2152-2154)Gat>Cat p.D718H REPS1_ENST00000415951.2_Missense_Mutation_p.D659H|REPS1_ENST00000367663.4_Missense_Mutation_p.D691H|REPS1_ENST00000409812.2_Missense_Mutation_p.D627H|REPS1_ENST00000258062.5_Missense_Mutation_p.D717H Q96D71 REPS1_HUMAN RALBP1 associated Eps domain containing 1 718 Interaction with RALBP1 (By similarity). coated pit|plasma membrane calcium ion binding|SH3 domain binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2) 19 GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548) GTATGTTCATCAACTTCTGGC 0.388000 7 80 0 0 1 0 0 CYP4F3 4051 broad.mit.edu 37 19 15769595 15769595 + Missense_Mutation SNP T T A TCGA-HT-7874-01A-11D-2395-08 TCGA-HT-7874-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b 159201aa-9f74-4b4a-ba23-b6863a698317 g.chr19:15769595T>A ENST00000221307.7 + 12 1421 c.1373T>A c.(1372-1374)tTt>tAt p.F458Y CYP4F3_ENST00000585846.1_Missense_Mutation_p.F458Y|CYP4F3_ENST00000591058.1_Missense_Mutation_p.F458Y|CYP4F3_ENST00000586182.1_Missense_Mutation_p.F458Y NM_000896.2 NP_000887.2 Q08477 CP4F3_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 3 458 leukotriene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1) 34 CCTCTGGCTTTTATTCCCTTC 0.592000 7 135 0 0 1 0 0 GOLGA6L2 283685 broad.mit.edu 37 15 23690510 23690510 + Missense_Mutation SNP T T G rs3866720 by1000genomes TCGA-HT-7874-01A-11D-2395-08 TCGA-HT-7874-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b 159201aa-9f74-4b4a-ba23-b6863a698317 g.chr15:23690510T>G ENST00000567107.1 - 2 212 c.160A>C c.(160-162)Aat>Cat p.N54H GOLGA6L2_ENST00000345070.5_5'UTR|GOLGA6L2_ENST00000312015.5_Missense_Mutation_p.N54H golgin A6 family-like 2 breast(1)|endometrium(7) 8 TTAGTGCCATTATTTATTTTC 0.498000 2 15 0 0 1 0 0 RPF2 84154 broad.mit.edu 37 6 111346773 111346773 + Silent SNP T T A TCGA-HT-7874-01A-11D-2395-08 TCGA-HT-7874-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b 159201aa-9f74-4b4a-ba23-b6863a698317 g.chr6:111346773T>A ENST00000441448.2 + 10 1001 c.909T>A c.(907-909)atT>atA p.I303I NM_032194.1 NP_115570.1 Q9H7B2 RPF2_HUMAN ribosome production factor 2 homolog (S. cerevisiae) 303 nucleolus protein binding p.I303I(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2) 7 CAAAAAGAATTAAAAAAAATT 0.368000 9 26 0 0 1 0 0 IP6K3 117283 broad.mit.edu 37 6 33690730 33690730 + Missense_Mutation SNP C C G TCGA-HT-7874-01A-11D-2395-08 TCGA-HT-7874-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b 159201aa-9f74-4b4a-ba23-b6863a698317 g.chr6:33690730C>G ENST00000451316.1 - 7 1535 c.1000G>C c.(1000-1002)Gaa>Caa p.E334Q IP6K3_ENST00000293756.4_Missense_Mutation_p.E334Q NM_001142883.1 NP_001136355.1 Q96PC2 IP6K3_HUMAN inositol hexakisphosphate kinase 3 334 inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation cytoplasm ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity skin(1) 1 TCTGGTGGTTCCTGCCCATCA 0.602000 12 71 0 0 1 0 0 PLSCR2 57047 broad.mit.edu 37 3 146173222 146173222 + Missense_Mutation SNP T T C TCGA-HT-7874-01A-11D-2395-08 TCGA-HT-7874-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b 159201aa-9f74-4b4a-ba23-b6863a698317 g.chr3:146173222T>C ENST00000497985.1 - 6 783 c.344A>G c.(343-345)aAc>aGc p.N115S PLSCR2_ENST00000336685.2_Missense_Mutation_p.N42S NM_001199978.1 NP_001186907.1 Q9NRY7 PLS2_HUMAN phospholipid scramblase 2 42 phospholipid scrambling integral to membrane|plasma membrane calcium ion binding|phospholipid scramblase activity endometrium(2)|large_intestine(5)|lung(7)|stomach(1) 15 TTCATACATGTTACTACTTTC 0.323000 5 96 0 0 1 0 0 CCDC97 90324 broad.mit.edu 37 19 41826329 41826329 + Missense_Mutation SNP A A G TCGA-HT-7874-01A-11D-2395-08 TCGA-HT-7874-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b 159201aa-9f74-4b4a-ba23-b6863a698317 g.chr19:41826329A>G ENST00000269967.3 + 4 987 c.865A>G c.(865-867)Atg>Gtg p.M289V NM_052848.1 NP_443080.1 Q96F63 CCD97_HUMAN coiled-coil domain containing 97 289 biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6) 17 CACCAGCCGCATGCACCAGCG 0.637000 10 44 0 0 1 0 0 HFE 3077 broad.mit.edu 37 6 26094421 26094421 + Silent SNP C C T TCGA-HT-7874-01A-11D-2395-08 TCGA-HT-7874-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b 159201aa-9f74-4b4a-ba23-b6863a698317 g.chr6:26094421C>T ENST00000357618.5 + 6 1136 c.1014C>T c.(1012-1014)gcC>gcT p.A338A HFE_ENST00000309234.6_Intron|HFE_ENST00000461397.1_Silent_p.A324A|HFE_ENST00000349999.4_Silent_p.A250A|HFE_ENST00000397022.3_Silent_p.A315A|HFE_ENST00000336625.8_Silent_p.A232A|HFE_ENST00000488199.1_Silent_p.A236A|HFE_ENST00000317896.7_Silent_p.A246A|HFE_ENST00000352392.4_Silent_p.A66A|HFE_ENST00000470149.1_Silent_p.A335A|HFE_ENST00000353147.5_Silent_p.A158A NM_000410.3|NM_139006.2 NP_000401.1|NP_620575.1 Q30201 HFE_HUMAN hemochromatosis 338 antigen processing and presentation of peptide antigen via MHC class I|cellular iron ion homeostasis|immune response|iron ion transport|protein complex assembly|receptor-mediated endocytosis apical part of cell|basal part of cell|cytoplasmic vesicle|early endosome|integral to plasma membrane|MHC class I protein complex|perinuclear region of cytoplasm|recycling endosome protein binding endometrium(3)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 CAGGAGGAGCCATGGGGCACT 0.502000 Hemochromatosis 10 50 0 0 1 0 0 GAR1 54433 broad.mit.edu 37 4 110745576 110745576 + Missense_Mutation SNP A A G TCGA-HT-7874-01A-11D-2395-08 TCGA-HT-7874-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b 159201aa-9f74-4b4a-ba23-b6863a698317 g.chr4:110745576A>G ENST00000226796.6 + 7 907 c.643A>G c.(643-645)Aga>Gga p.R215G GAR1_ENST00000394631.3_Missense_Mutation_p.R215G NM_018983.3 NP_061856.1 Q9NY12 GAR1_HUMAN GAR1 ribonucleoprotein 215 RGG-box 2. rRNA processing|snRNA pseudouridine synthesis box H/ACA snoRNP complex|Cajal body cation channel activity|pseudouridine synthase activity|snoRNA binding kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1) 9 TTAATCAGGGAGAGGACATTA 0.328000 4 65 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414346 20414346 + Silent SNP G G A TCGA-HT-7874-01A-11D-2395-08 TCGA-HT-7874-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b 159201aa-9f74-4b4a-ba23-b6863a698317 g.chr9:20414346G>A ENST00000380338.4 - 5 784 c.498C>T c.(496-498)agC>agT p.S166S MLLT3_ENST00000429426.2_Silent_p.S163S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 166 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S166S(4) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctactgctgctgctgc 0.527000 T MLL ALL 4 61 0 0 1 0 0 LIMK1 3984 broad.mit.edu 37 7 73513495 73513495 + Missense_Mutation SNP T T C TCGA-HT-7874-01A-11D-2395-08 TCGA-HT-7874-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b 159201aa-9f74-4b4a-ba23-b6863a698317 g.chr7:73513495T>C ENST00000418310.1 + 5 727 c.625T>C c.(625-627)Tca>Cca p.S209P LIMK1_ENST00000491052.1_3'UTR|LIMK1_ENST00000538333.3_Missense_Mutation_p.S145P|LIMK1_ENST00000336180.2_Missense_Mutation_p.S179P P53667 LIMK1_HUMAN LIM domain kinase 1 179 PDZ. actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction cytosol|growth cone|nucleus ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 21 Lung NSC(55;0.137) GCGTGGACTTTCAGTCTCCAT 0.677000 31 132 0 0 1 0 0 BTG3 10950 broad.mit.edu 37 21 18966541 18966541 + Missense_Mutation SNP G G A TCGA-HT-7874-01A-11D-2395-08 TCGA-HT-7874-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b 159201aa-9f74-4b4a-ba23-b6863a698317 g.chr21:18966541G>A ENST00000339775.6 - 6 914 c.761C>T c.(760-762)cCa>cTa p.P254L BTG3_ENST00000348354.6_Missense_Mutation_p.P210L NM_001130914.1 NP_001124386.1 Q14201 BTG3_HUMAN BTG family, member 3 210 negative regulation of cell proliferation|negative regulation of mitotic cell cycle cytoplasm endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4) 8 Epithelial(23;0.000283)|all cancers(11;0.0012)|Lung(58;0.0191)|OV - Ovarian serous cystadenocarcinoma(11;0.0206)|COAD - Colon adenocarcinoma(22;0.0315)|LUSC - Lung squamous cell carcinoma(23;0.0703)|Colorectal(24;0.0971) ATAACCAAATGGAACAGGAGG 0.458000 5 67 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132466834 132466834 + Silent SNP G G A TCGA-HT-7874-01A-11D-2395-08 TCGA-HT-7874-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b 159201aa-9f74-4b4a-ba23-b6863a698317 g.chr12:132466834G>A ENST00000333577.4 + 6 1957 c.1848G>A c.(1846-1848)caG>caA p.Q616Q EP400_ENST00000389562.2_Silent_p.Q579Q|EP400_ENST00000330386.6_Silent_p.Q580Q|EP400_ENST00000332482.4_Silent_p.Q543Q|EP400_ENST00000389561.2_Silent_p.Q580Q Q96L91 EP400_HUMAN E1A binding protein p400 616 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) TTGCACAGCAGCCGCAAGTGG 0.657000 18 99 0 0 1 0 0 CLCA2 9635 broad.mit.edu 37 1 86919122 86919122 + Silent SNP C C T TCGA-HT-7874-01A-11D-2395-08 TCGA-HT-7874-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b 159201aa-9f74-4b4a-ba23-b6863a698317 g.chr1:86919122C>T ENST00000370565.4 + 13 2388 c.2226C>T c.(2224-2226)agC>agT p.S742S CLCA2_ENST00000498802.1_3'UTR NM_006536.5 NP_006527.1 Q9UQC9 CLCA2_HUMAN chloride channel accessory 2 742 cell adhesion basal plasma membrane|cell junction|extracellular region|integral to plasma membrane chloride channel activity NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 42 Lung NSC(277;0.238) all cancers(265;0.0233)|Epithelial(280;0.0452) GGGGCTTTAGCCGAGTCAGCT 0.463000 4 51 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-HT-7874-01A-11D-2395-08 TCGA-HT-7874-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b 159201aa-9f74-4b4a-ba23-b6863a698317 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 15 76 0 0 1 0 0 CCDC88B 283234 broad.mit.edu 37 11 64112395 64112395 + Silent SNP G G A TCGA-HT-7874-01A-11D-2395-08 TCGA-HT-7874-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b 159201aa-9f74-4b4a-ba23-b6863a698317 g.chr11:64112395G>A ENST00000356786.5 + 14 2426 c.2382G>A c.(2380-2382)cgG>cgA p.R794R CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'UTR NM_032251.5 NP_115627.6 A6NC98 CC88B_HUMAN coiled-coil domain containing 88B 794 microtubule cytoskeleton organization cytoplasm microtubule binding endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 CCCGGCTGCGGGAGGCAGTGG 0.741000 3 6 0 0 1 0 0 PCDH19 57526 broad.mit.edu 37 X 99662610 99662610 + Missense_Mutation SNP T T C TCGA-HT-7874-01A-11D-2395-08 TCGA-HT-7874-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b 159201aa-9f74-4b4a-ba23-b6863a698317 g.chrX:99662610T>C ENST00000373034.4 - 1 2661 c.986A>G c.(985-987)cAc>cGc p.H329R PCDH19_ENST00000420881.2_Missense_Mutation_p.H329R|PCDH19_ENST00000255531.7_Missense_Mutation_p.H329R NM_001184880.1 NP_001171809.1 Q8TAB3 PCD19_HUMAN protocadherin 19 329 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 68 GACCTTGCAGTGTGCCGGGAT 0.592000 18 64 0 0 1 0 0 COA6 388753 broad.mit.edu 37 1 234509403 234509403 + Missense_Mutation SNP C C G rs117011051 by1000genomes TCGA-HT-7874-01A-11D-2395-08 TCGA-HT-7874-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b 159201aa-9f74-4b4a-ba23-b6863a698317 g.chr1:234509403C>G ENST00000366615.4 + 1 202 c.191C>G c.(190-192)gCc>gGc p.A64G NM_001206641.1 NP_001193570.1 cytochrome c oxidase assembly factor 6 homolog (S. cerevisiae) CGAAAGGAAGCCGGACGTGGG 0.716000 7 142 0 0 1 0 0 ZCCHC5 203430 broad.mit.edu 37 X 77913195 77913195 + Silent SNP A A T TCGA-HT-7874-01A-11D-2395-08 TCGA-HT-7874-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b 159201aa-9f74-4b4a-ba23-b6863a698317 g.chrX:77913195A>T ENST00000321110.1 - 2 1018 c.723T>A c.(721-723)acT>acA p.T241T NM_152694.2 NP_689907.1 Q8N8U3 ZCHC5_HUMAN zinc finger, CCHC domain containing 5 241 nucleic acid binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1) 37 TGAAGGTTAAAGTGTATTGCA 0.502000 9 33 0 0 1 0 0 SAMM50 25813 broad.mit.edu 37 22 44377307 44377307 + Missense_Mutation SNP C C T TCGA-HT-7874-01A-11D-2395-08 TCGA-HT-7874-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b 159201aa-9f74-4b4a-ba23-b6863a698317 g.chr22:44377307C>T ENST00000350028.4 + 11 1130 c.973C>T c.(973-975)Ccc>Tcc p.P325S SAMM50_ENST00000396202.3_Missense_Mutation_p.P115S NM_015380.4 NP_056195.3 Q9Y512 SAM50_HUMAN SAMM50 sorting and assembly machinery component 325 protein import into mitochondrial outer membrane integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex protein binding endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222) AATGTTGGTACCCATTGGTGA 0.388000 6 75 0 0 1 0 0 MYOF 26509 broad.mit.edu 37 10 95072807 95072807 + Silent SNP G G A TCGA-HT-7874-01A-11D-2395-08 TCGA-HT-7874-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b 159201aa-9f74-4b4a-ba23-b6863a698317 g.chr10:95072807G>A ENST00000371501.4 - 51 5981 c.5859C>T c.(5857-5859)taC>taT p.Y1953Y MYOF_ENST00000358334.5_Silent_p.Y1940Y|MYOF_ENST00000371502.4_Silent_p.Y1943Y|MYOF_ENST00000359263.4_Silent_p.Y1953Y Q9NZM1 MYOF_HUMAN myoferlin 1953 blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 CTTTCTCTGCGTAGCATGGCC 0.473000 28 436 0 0 1 0 0 ARAP3 64411 broad.mit.edu 37 5 141035828 141035828 + Missense_Mutation SNP G G A TCGA-HT-7874-01A-11D-2395-08 TCGA-HT-7874-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b 159201aa-9f74-4b4a-ba23-b6863a698317 g.chr5:141035828G>A ENST00000239440.4 - 28 3870 c.3805C>T c.(3805-3807)Cgg>Tgg p.R1269W ARAP3_ENST00000513878.1_Missense_Mutation_p.R931W|ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000508305.1_Missense_Mutation_p.R1100W NM_022481.5 NP_071926.4 Q8WWN8 ARAP3_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 1269 PH 3. cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1) 53 GGCCACTCCCGTTCTGGTTTA 0.522000 7 111 0 0 1 0 0 HNRNPA0 10949 broad.mit.edu 37 5 137089402 137089402 + Missense_Mutation SNP G G T TCGA-HT-7874-01A-11D-2395-08 TCGA-HT-7874-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b 159201aa-9f74-4b4a-ba23-b6863a698317 g.chr5:137089402G>T ENST00000314940.4 - 1 637 c.354C>A c.(352-354)ttC>ttA p.F118L NM_006805.3 NP_006796.1 Q13151 ROA0_HUMAN heterogeneous nuclear ribonucleoprotein A0 118 RRM 2. nuclear mRNA splicing, via spliceosome heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|RNA binding large_intestine(1)|lung(2)|skin(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CAAACTGCGAGAAGTGCTCGA 0.587000 31 71 1.06801e-11 1.17071e-11 1 1 0 MROH2B 133558 broad.mit.edu 37 5 41015559 41015559 + Missense_Mutation SNP C C A TCGA-HT-7874-01A-11D-2395-08 TCGA-HT-7874-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b 159201aa-9f74-4b4a-ba23-b6863a698317 g.chr5:41015559C>A ENST00000399564.4 - 29 3356 c.2906G>T c.(2905-2907)aGa>aTa p.R969I MROH2B_ENST00000506092.2_Missense_Mutation_p.R524I NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B ACCCTGCAGTCTTTCCACTTC 0.413000 9 36 0.00621372 0.00621372 1 1 0 MAGEC1 9947 broad.mit.edu 37 X 140994428 140994428 + Missense_Mutation SNP C C A rs72236299 TCGA-HT-7874-01A-11D-2395-08 TCGA-HT-7874-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b 159201aa-9f74-4b4a-ba23-b6863a698317 g.chrX:140994428C>A ENST00000285879.4 + 4 1524 c.1238C>A c.(1237-1239)aCc>aAc p.T413N MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 413 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) ATTCCTATGACCTCCTCCTTC 0.463000 HNSCC(15;0.026) 11 316 2.80697e-09 3.01882e-09 1 1 0 BAZ1B 9031 broad.mit.edu 37 7 72925148 72925148 + Missense_Mutation SNP G G A TCGA-HT-7874-01A-11D-2395-08 TCGA-HT-7874-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b 159201aa-9f74-4b4a-ba23-b6863a698317 g.chr7:72925148G>A ENST00000339594.4 - 2 480 c.142C>T c.(142-144)Cgc>Tgc p.R48C BAZ1B_ENST00000404251.1_Missense_Mutation_p.R48C NM_032408.3 NP_115784.1 Q9UIG0 BAZ1B_HUMAN bromodomain adjacent to zinc finger domain, 1B 48 Mediates the tyrosine-protein kinase activity.|WAC. ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent WINAC complex ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Lung NSC(55;0.0659)|all_lung(88;0.152) GTCCAAATGCGCTCACTGTAC 0.463000 30 87 0 0 1 0 0 PRKCG 5582 broad.mit.edu 37 19 54395814 54395814 + Missense_Mutation SNP C C G TCGA-HT-7874-01A-11D-2395-08 TCGA-HT-7874-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b 159201aa-9f74-4b4a-ba23-b6863a698317 g.chr19:54395814C>G ENST00000263431.3 + 7 1020 c.738C>G c.(736-738)gaC>gaG p.D246E PRKCG_ENST00000540413.1_Missense_Mutation_p.D246E|PRKCG_ENST00000542049.1_Missense_Mutation_p.D133E|PRKCG_ENST00000536044.1_Missense_Mutation_p.D246E NM_002739.3 NP_002730.1 P05129 KPCG_HUMAN protein kinase C, gamma 246 C2. activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission cytosol ATP binding|protein kinase C activity|zinc ion binding large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1) 10 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0521) AGGTGTGGGACTGGGACCGGA 0.672000 4 19 0 0 1 0 0 ZNF645 158506 broad.mit.edu 37 X 22291314 22291314 + Missense_Mutation SNP G G A TCGA-HT-7874-01A-11D-2395-08 TCGA-HT-7874-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b 159201aa-9f74-4b4a-ba23-b6863a698317 g.chrX:22291314G>A ENST00000323684.1 + 1 250 c.206G>A c.(205-207)cGa>cAa p.R69Q NM_152577.3 NP_689790.1 Q8N7E2 ZN645_HUMAN zinc finger protein 645 69 intracellular zinc ion binding cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1) 27 ATCTATGGGCGAATAATTCCG 0.383000 24 93 0 0 1 0 0 KDR 3791 broad.mit.edu 37 4 55960997 55960997 + Missense_Mutation SNP C C G TCGA-HT-7874-01A-11D-2395-08 TCGA-HT-7874-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b 159201aa-9f74-4b4a-ba23-b6863a698317 g.chr4:55960997C>G ENST00000263923.4 - 21 3238 c.2943G>C c.(2941-2943)aaG>aaC p.K981N NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 981 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 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) CACTGAGGGACTTCTCCTCCA 0.522000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 26 123 0 0 1 0 0 DGKK 139189 broad.mit.edu 37 X 50127815 50127815 + RNA SNP A A C TCGA-HT-7874-01A-11D-2395-08 TCGA-HT-7874-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b 159201aa-9f74-4b4a-ba23-b6863a698317 g.chrX:50127815A>C ENST00000376025.2 - 0 2414 Q5KSL6 DGKK_HUMAN diacylglycerol kinase, kappa activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(276;0.236) TGCTTTCCTCATCCAGAGCTA 0.453000 13 92 0 0 1 0 0 EGFR 1956 broad.mit.edu 37 7 55214348 55214348 + Silent SNP C C T rs2072454 byFrequency TCGA-HT-7874-01A-11D-2395-08 TCGA-HT-7874-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b 159201aa-9f74-4b4a-ba23-b6863a698317 g.chr7:55214348C>T ENST00000275493.2 + 4 651 c.474C>T c.(472-474)aaC>aaT p.N158N EGFR_ENST00000442591.1_Silent_p.N158N|EGFR_ENST00000455089.1_Intron|EGFR_ENST00000454757.2_Silent_p.N105N|EGFR_ENST00000342916.3_Silent_p.N158N|EGFR_ENST00000344576.2_Silent_p.N158N|EGFR_ENST00000420316.2_Silent_p.N158N NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 158 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.N158N(1) 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) CCCTGTGCAACGTGGAGAGCA 0.547000 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 5 60 0 0 1 0 0 UGT2B11 10720 broad.mit.edu 37 4 70070265 70070265 + Missense_Mutation SNP T T C TCGA-HT-7874-01A-11D-2395-08 TCGA-HT-7874-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b 159201aa-9f74-4b4a-ba23-b6863a698317 g.chr4:70070265T>C ENST00000446444.1 - 5 1201 c.1193A>G c.(1192-1194)gAt>gGt p.D398G RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA NM_001073.1 NP_001064.1 O75310 UDB11_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B11 398 estrogen metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 42 ATCAGGTTGATCAAAAAACAA 0.448000 14 211 0 0 1 0 0 DDX6 1656 broad.mit.edu 37 11 118629613 118629614 + Splice_Site INS - - G TCGA-HT-7874-01A-11D-2395-08 TCGA-HT-7874-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b 159201aa-9f74-4b4a-ba23-b6863a698317 g.chr11:118629613_118629614insG ENST00000264018.4 - 9 1170 c.e9-2 DDX6_ENST00000526070.2_Splice_Site|DDX6_ENST00000534980.1_Splice_Site NM_004397.4 NP_004388.2 P26196 DDX6_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 6 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1) 13 all_hematologic(175;0.0839) Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103) OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377) ATGGGAATTCTGGGGGGGGAGC 0.426 T IGH@ B-NHL 7 173 --- --- --- --- CHEK1 1111 broad.mit.edu 37 11 125505377 125505378 + Frame_Shift_Ins INS - - A rs35817404 TCGA-HT-7874-01A-11D-2395-08 TCGA-HT-7874-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b 159201aa-9f74-4b4a-ba23-b6863a698317 g.chr11:125505377_125505378insA ENST00000534070.1 + 7 922_923 c.667_668insA c.(667-669)aaafs p.K223fs CHEK1_ENST00000532449.1_3'UTR|CHEK1_ENST00000428830.2_Frame_Shift_Ins_p.K223fs|CHEK1_ENST00000524737.1_Frame_Shift_Ins_p.K223fs|CHEK1_ENST00000438015.1_Frame_Shift_Ins_p.K223fs|CHEK1_ENST00000544373.1_Frame_Shift_Ins_p.K223fs|CHEK1_ENST00000278916.3_Frame_Shift_Ins_p.K223fs|CHEK1_ENST00000427383.2_Frame_Shift_Ins_p.K239fs NM_001274.5 NP_001265.2 O14757 CHK1_HUMAN checkpoint kinase 1 223 Protein kinase. E -> V (in dbSNP:rs35817404). cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence condensed nuclear chromosome|microtubule organizing center|nucleoplasm ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(175;0.228) Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748) TGACTGGAAAGAAAAAAAAACA 0.361 Other conserved DNA damage response genes 7 153 --- --- --- --- SHROOM4 57477 broad.mit.edu 37 X 50377684 50377685 + Frame_Shift_Ins INS - - G TCGA-HT-7874-01A-11D-2395-08 TCGA-HT-7874-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b 159201aa-9f74-4b4a-ba23-b6863a698317 g.chrX:50377684_50377685insG ENST00000376020.2 - 4 1413_1414 c.1388_1389insC c.(1387-1389)cacfs p.H463fs SHROOM4_ENST00000460112.3_Frame_Shift_Ins_p.H347fs|SHROOM4_ENST00000289292.7_Frame_Shift_Ins_p.H463fs NM_020717.3 NP_065768.2 Q9ULL8 SHRM4_HUMAN shroom family member 4 463 actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 52 Ovarian(276;0.236) TTCCTCCTGTAGGGGGGCATGG 0.554 13 135 --- --- --- ---